#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RPH3A	22895	broad.mit.edu	37	12	113328749	113328749	+	Silent	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:113328749A>T	ENST00000389385.4	+	19	2213	c.1716A>T	c.(1714-1716)atA>atT	p.I572I	RPH3A_ENST00000543106.2_Silent_p.I572I|RPH3A_ENST00000551052.1_Silent_p.I568I|RPH3A_ENST00000447659.2_Silent_p.I523I|RPH3A_ENST00000420983.2_Silent_p.I572I|RPH3A_ENST00000548866.1_Silent_p.I523I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.I572I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	572	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGGGCATCATACGCTGCGTGC	0.582																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1714-1716)atA>atT		rabphilin 3A homolog (mouse)							128.0	85.0	100.0					12																	113328749		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113328749A>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1716A>T	12.37:g.113328749A>T						RPH3A_ENST00000548866.1_Silent_p.I523I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Silent_p.I568I|RPH3A_ENST00000420983.2_Silent_p.I572I|RPH3A_ENST00000543106.2_Silent_p.I572I|RPH3A_ENST00000447659.2_Silent_p.I523I|RPH3A_ENST00000415485.3_Silent_p.I572I	p.I572I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	19	2213	+			572			C2 2.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.1716A>T	CCDS44979.1																																																																																				0.582	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		3	35	0	0	0	1	0	3	35				
OPHN1	4983	broad.mit.edu	37	X	67430102	67430102	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:67430102G>A	ENST00000355520.5	-	9	1366	c.725C>T	c.(724-726)aCc>aTc	p.T242I	OPHN1_ENST00000540071.1_Missense_Mutation_p.T242I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	242					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTCTTCCCGGGTACTGGAGAA	0.378																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(724-726)aCc>aTc		oligophrenin 1							161.0	131.0	141.0					X																	67430102		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67430102G>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.725C>T	X.37:g.67430102G>A	ENSP00000347710:p.Thr242Ile					OPHN1_ENST00000540071.1_Missense_Mutation_p.T242I	p.T242I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			9	1366	-			242					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.725C>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244649	0.79912	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.04454	3.62;3.62	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.991;0.999;0.994	T	0.07501	-1.0769	10	0.87932	D	0	.	14.6487	0.68780	0.0:0.0:1.0:0.0	.	242;242;242	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	I	242	ENSP00000347710:T242I;ENSP00000438617:T242I	ENSP00000347710:T242I	T	-	2	0	OPHN1	67346827	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.330000	0.90019	2.127000	0.65507	0.506000	0.49869	ACC		0.378	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		14	7	0	0	0	1	0	14	7				
BAG2	9532	broad.mit.edu	37	6	57048751	57048751	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:57048751T>A	ENST00000370693.5	+	3	771	c.399T>A	c.(397-399)agT>agA	p.S133R	BAG2_ENST00000545080.1_Missense_Mutation_p.S100R	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	133	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGCCAAGAGTCATTTAATGT	0.433																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(397-399)agT>agA		BCL2-associated athanogene 2							156.0	151.0	153.0					6																	57048751		2203	4300	6503	SO:0001583	missense	9532				apoptosis|protein folding		protein binding	g.chr6:57048751T>A	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.399T>A	6.37:g.57048751T>A	ENSP00000359727:p.Ser133Arg					BAG2_ENST00000545080.1_Missense_Mutation_p.S100R	p.S133R	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	771	+	Lung NSC(77;0.126)		133			BAG.		B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	ENST00000370693.5	37	c.399T>A	CCDS4961.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.328164	0.24080	.	.	ENSG00000112208	ENST00000370693;ENST00000438730;ENST00000545080	D;D	0.87887	-2.31;-2.31	6.06	2.48	0.30137	BAG domain (3);	0.443430	0.31392	N	0.007731	T	0.56217	0.1970	N	0.22421	0.69	0.35862	D	0.827556	B;B	0.18741	0.025;0.03	B;B	0.25614	0.038;0.062	T	0.36768	-0.9734	10	0.18710	T	0.47	-15.216	1.8984	0.03262	0.1213:0.277:0.1259:0.4758	.	100;133	B4DXE2;O95816	.;BAG2_HUMAN	R	133;82;100	ENSP00000359727:S133R;ENSP00000441795:S100R	ENSP00000359727:S133R	S	+	3	2	BAG2	57156710	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	0.569000	0.23638	0.204000	0.20548	0.528000	0.53228	AGT		0.433	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			4	160	0	0	0	1	0	4	160				
NFATC2	4773	broad.mit.edu	37	20	50133394	50133394	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:50133394G>A	ENST00000396009.3	-	3	1480	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	NFATC2_ENST00000371564.3_Missense_Mutation_p.R421W|NFATC2_ENST00000414705.1_Missense_Mutation_p.R401W|NFATC2_ENST00000610033.1_Missense_Mutation_p.R202W|NFATC2_ENST00000609507.1_Missense_Mutation_p.R202W|NFATC2_ENST00000609943.1_Missense_Mutation_p.R401W	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	421	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGTGGGCCCGGTGATGTGGC	0.587																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1261-1263)Cgg>Tgg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							79.0	71.0	74.0					20																	50133394		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50133394G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1261C>T	20.37:g.50133394G>A	ENSP00000379330:p.Arg421Trp					NFATC2_ENST00000414705.1_Missense_Mutation_p.R401W|NFATC2_ENST00000396009.3_Missense_Mutation_p.R421W	p.R421W	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			3	1480	-	Hepatocellular(150;0.248)		421			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1261C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728694	0.89390	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.72942	-0.7;-0.7;-0.7	5.25	5.25	0.73442	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.89565	0.3809	10	0.87932	D	0	-25.2161	18.8714	0.92317	0.0:0.0:1.0:0.0	.	401;401;421;421	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	W	421;421;202;401	ENSP00000360619:R421W;ENSP00000379330:R421W;ENSP00000396471:R401W	ENSP00000360619:R421W	R	-	1	2	NFATC2	49566801	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.203000	0.65174	2.455000	0.83008	0.650000	0.86243	CGG		0.587	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		6	86	0	0	0	1	0	6	86				
CREBBP	1387	broad.mit.edu	37	16	3823862	3823862	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:3823862C>T	ENST00000262367.5	-	13	3162	c.2353G>A	c.(2353-2355)Gcc>Acc	p.A785T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A747T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	785					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCGCCTGGGCCATCATGTTG	0.597			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2353-2355)Gcc>Acc		CREB binding protein							91.0	92.0	92.0					16																	3823862		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3823862C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2353G>A	16.37:g.3823862C>T	ENSP00000262367:p.Ala785Thr					CREBBP_ENST00000382070.3_Missense_Mutation_p.A747T	p.A785T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	13	3162	-		Ovarian(90;0.0266)	785					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2353G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623102	0.66901	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82984	-1.67;-1.6	5.32	5.32	0.75619	.	0.075515	0.53938	D	0.000041	T	0.62877	0.2464	N	0.02539	-0.55	0.33904	D	0.638885	B;B	0.32396	0.369;0.226	B;B	0.25291	0.059;0.059	T	0.66913	-0.5803	10	0.16420	T	0.52	-18.1117	19.3568	0.94418	0.0:1.0:0.0:0.0	.	815;785	Q4LE28;Q92793	.;CBP_HUMAN	T	785;815;747	ENSP00000262367:A785T;ENSP00000371502:A747T	ENSP00000262367:A785T	A	-	1	0	CREBBP	3763863	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	4.075000	0.57584	2.663000	0.90544	0.557000	0.71058	GCC		0.597	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		4	126	0	0	0	1	0	4	126				
SLC6A2	6530	broad.mit.edu	37	16	55719143	55719143	+	Missense_Mutation	SNP	G	G	A	rs1805066	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:55719143G>A	ENST00000379906.2	+	4	988	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	245			V -> I (in dbSNP:rs1805066).		monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATGGTCGTCGTCATCGTCTT	0.527													G|||	8	0.00159744	0.0	0.0014	5008	,	,		19765	0.0		0.007	False		,,,				2504	0.0					ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(733-735)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	7,4389	12.9+/-30.5	0,7,2191	146.0	133.0	137.0		733,733,418,733	3.3	0.0	16	dbSNP_89	137	78,8522	45.4+/-104.0	1,76,4223	yes	missense,missense,missense,missense	SLC6A2	NM_001043.3,NM_001172501.1,NM_001172502.1,NM_001172504.1	29,29,29,29	1,83,6414	AA,AG,GG		0.907,0.1592,0.654	benign,benign,benign,benign	245/618,245/618,140/513,245/629	55719143	85,12911	2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719143G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.733G>A	16.37:g.55719143G>A	ENSP00000369237:p.Val245Ile					SLC6A2_ENST00000568943.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V140I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V245I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V245I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V245I	p.V245I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	4	988	+			245		V -> I (in dbSNP:rs1805066).			B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.733G>A	CCDS10754.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	G	6.774	0.511735	0.12944	0.001592	0.00907	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74209	-0.82;-0.82;-0.82	5.65	3.3	0.37823	.	0.238813	0.42548	N	0.000693	T	0.35158	0.0922	N	0.01624	-0.795	0.19300	N	0.999975	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.11329	0.004;0.001;0.006;0.004	T	0.28839	-1.0031	10	0.39692	T	0.17	.	6.0778	0.19925	0.1975:0.1437:0.6588:0.0	rs1805066;rs52797605;rs1805066	245;4;140;245	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	245;4;245;245	ENSP00000394956:V245I;ENSP00000369237:V245I;ENSP00000219833:V245I	ENSP00000219833:V245I	V	+	1	0	SLC6A2	54276644	0.996000	0.38824	0.006000	0.13384	0.401000	0.30781	2.436000	0.44819	0.509000	0.28195	-0.140000	0.14226	GTC		0.527	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			18	77	0	0	0	1	0	18	77				
ZC3H13	23091	broad.mit.edu	37	13	46542134	46542134	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:46542134T>A	ENST00000242848.4	-	15	4174	c.3826A>T	c.(3826-3828)Aga>Tga	p.R1276*	ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R232*|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1276*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1276	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAACTTCTTCTTGAACTATGG	0.368																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3826-3828)Aga>Tga		zinc finger CCCH-type containing 13							130.0	126.0	127.0					13																	46542134		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46542134T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3826A>T	13.37:g.46542134T>A	ENSP00000242848:p.Arg1276*					ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R232*|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1276*	p.R1276*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4174	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1276			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.3826A>T		.	.	.	.	.	.	.	.	.	.	T	46	12.543334	0.99676	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6538	0.77118	0.0:0.0:0.0:1.0	.	.	.	.	X	1276;232;1276	.	ENSP00000242848:R1276X	R	-	1	2	ZC3H13	45440135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.197000	0.42696	2.157000	0.67596	0.482000	0.46254	AGA		0.368	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	98	0	0	0	1	0	4	98				
NCOA3	8202	broad.mit.edu	37	20	46252677	46252677	+	Missense_Mutation	SNP	C	C	T	rs145292442		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:46252677C>T	ENST00000371998.3	+	4	297	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	NCOA3_ENST00000371997.3_Missense_Mutation_p.R36W|NCOA3_ENST00000372004.3_Missense_Mutation_p.R36W|NCOA3_ENST00000341724.6_Missense_Mutation_p.R36W			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	36	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGTGAAAAACGGAGACGGGA	0.398																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(106-108)Cgg>Tgg		nuclear receptor coactivator 3		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	66.0	70.0	68.0		106,106,106,106	2.7	1.0	20	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	101,101,101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	36/1424,36/1416,36/1421,36/1425	46252677	2,13004	2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46252677C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.106C>T	20.37:g.46252677C>T	ENSP00000361066:p.Arg36Trp					NCOA3_ENST00000371998.3_Missense_Mutation_p.R36W|NCOA3_ENST00000371997.3_Missense_Mutation_p.R36W|NCOA3_ENST00000341724.6_Missense_Mutation_p.R36W	p.R36W	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			4	322	+			36					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.106C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107550	0.37145	0.0	2.33E-4	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03860	3.78;3.9;3.9;3.79	6.16	2.72	0.32119	Helix-loop-helix DNA-binding (4);	0.198772	0.39909	N	0.001240	T	0.05410	0.0143	M	0.69358	2.11	0.43994	D	0.996695	B;B;B;B;B	0.23937	0.01;0.057;0.057;0.094;0.057	B;B;B;B;B	0.15052	0.001;0.009;0.005;0.012;0.005	T	0.32613	-0.9900	10	0.42905	T	0.14	-3.1164	2.4846	0.04595	0.3407:0.241:0.0:0.4183	.	36;40;36;36;36	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	W	36	ENSP00000342123:R36W;ENSP00000361073:R36W;ENSP00000361066:R36W;ENSP00000361065:R36W	ENSP00000345671:R36W	R	+	1	2	NCOA3	45686084	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.547000	0.45786	0.554000	0.29061	-1.316000	0.01300	CGG		0.398	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		16	44	0	0	0	1	0	16	44				
OR6F1	343169	broad.mit.edu	37	1	247875250	247875250	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:247875250G>T	ENST00000302084.2	-	1	855	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTTTGATCAGATCCAAGGCA	0.488																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(808-810)Ctg>Atg		olfactory receptor, family 6, subfamily F, member 1							106.0	103.0	104.0					1																	247875250		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875250G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.808C>A	1.37:g.247875250G>T	ENSP00000305640:p.Leu270Met					RP11-634B7.4_ENST00000449298.1_RNA	p.L270M	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	855	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		270					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.808C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	6.849	0.525952	0.13066	.	.	ENSG00000169214	ENST00000302084	T	0.00227	8.5	3.49	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34133	N	0.004232	T	0.00241	0.0007	L	0.39085	1.19	0.09310	N	1	D	0.76494	0.999	D	0.71656	0.974	T	0.54549	-0.8277	10	0.33940	T	0.23	-16.3963	4.1676	0.10313	0.2391:0.0:0.5776:0.1833	.	270	Q8NGZ6	OR6F1_HUMAN	M	270	ENSP00000305640:L270M	ENSP00000305640:L270M	L	-	1	2	OR6F1	245941873	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.616000	0.05591	0.723000	0.32274	0.591000	0.81541	CTG		0.488	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		47	68	1	0	1.15181e-12	1	1.25269e-12	47	68				
HELZ2	85441	broad.mit.edu	37	20	62203587	62203587	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:62203587G>C	ENST00000467148.1	-	1	221	c.152C>G	c.(151-153)tCt>tGt	p.S51C	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	51					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGCCTCCTGAGAGTGGCAGGT	0.711																																						ENST00000467148.1																			0											c.(151-153)tCt>tGt		helicase with zinc finger 2, transcriptional coactivator							27.0	21.0	23.0					20																	62203587		2180	4288	6468	SO:0001583	missense	85441							g.chr20:62203587G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.152C>G	20.37:g.62203587G>C	ENSP00000417401:p.Ser51Cys					HELZ2_ENST00000479540.1_5'UTR	p.S51C	NM_001037335.2	NP_001032412.2					1	221	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.152C>G	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268792	0.80469	.	.	ENSG00000130589	ENST00000467148	T	0.02709	4.19	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);	0.229548	0.37669	N	0.001995	T	0.15003	0.0362	M	0.76574	2.34	0.40375	D	0.979386	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.97	T	0.01767	-1.1278	10	0.72032	D	0.01	-13.0336	16.3882	0.83523	0.0:0.0:1.0:0.0	.	51;51	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	C	51	ENSP00000417401:S51C	ENSP00000417401:S51C	S	-	2	0	RP4-697K14.7	61674031	1.000000	0.71417	0.302000	0.25058	0.927000	0.56198	6.907000	0.75724	1.863000	0.54032	0.655000	0.94253	TCT		0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	18	0	0	0	1	0	4	18				
ZP3	7784	broad.mit.edu	37	7	76058916	76058916	+	Missense_Mutation	SNP	C	C	T	rs149364780		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:76058916C>T	ENST00000394857.3	+	2	455	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000336517.4_Missense_Mutation_p.R82C	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	133	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GAGGACTAACCGCGCAGAGAT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19150	0.0		0.001	False		,,,				2504	0.0					ENST00000336517.4																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(244-246)Cgc>Tgc		zona pellucida glycoprotein 3 (sperm receptor)		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	90.0	100.0		397,244	4.5	0.0	7	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	ZP3	NM_001110354.1,NM_007155.5	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	133/425,82/374	76058916	1,13005	2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76058916C>T	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.397C>T	7.37:g.76058916C>T	ENSP00000378326:p.Arg133Cys					ZP3_ENST00000394857.3_Missense_Mutation_p.R133C|ZP3_ENST00000416245.1_5'UTR	p.R82C	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN			3	590	+			133			ZP.		Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.244C>T	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406583	0.42715	2.27E-4	0.0	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.82433	-1.61;-1.61	5.4	4.52	0.55395	Zona pellucida sperm-binding protein (3);	1.289640	0.05188	N	0.502659	D	0.90195	0.6935	M	0.76838	2.35	0.23309	N	0.997933	D;D	0.76494	0.999;0.999	P;P	0.62014	0.897;0.826	T	0.71866	-0.4463	10	0.56958	D	0.05	-3.1926	8.4169	0.32676	0.0:0.8217:0.0:0.1783	.	82;133	P21754-3;P21754	.;ZP3_HUMAN	C	82;133;133	ENSP00000337310:R82C;ENSP00000378326:R133C	ENSP00000337310:R82C	R	+	1	0	ZP3	75896852	0.013000	0.17824	0.029000	0.17559	0.454000	0.32378	1.142000	0.31540	1.288000	0.44600	0.555000	0.69702	CGC		0.617	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			25	156	0	0	0	1	0	25	156				
MYOZ3	91977	broad.mit.edu	37	5	150056388	150056388	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:150056388G>A	ENST00000297130.4	+	7	906	c.707G>A	c.(706-708)aGa>aAa	p.R236K	MYOZ3_ENST00000520112.1_Silent_p.Q152Q|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236K|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTCAACAGAGTGGCCCAG	0.642																																						ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(706-708)aGa>aAa		myozenin 3							60.0	67.0	65.0					5																	150056388		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150056388G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.707G>A	5.37:g.150056388G>A	ENSP00000297130:p.Arg236Lys					MYOZ3_ENST00000520112.1_Silent_p.Q152Q|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236K	p.R236K	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	906	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	236						Missense_Mutation	SNP	ENST00000297130.4	37	c.707G>A	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121384	0.94385	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.73047	-0.71;-0.71	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000015	D	0.84460	0.5477	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86752	0.1961	10	0.87932	D	0	-21.4683	14.2397	0.65950	0.0:0.0:1.0:0.0	.	236	Q8TDC0	MYOZ3_HUMAN	K	236	ENSP00000428815:R236K;ENSP00000297130:R236K	ENSP00000297130:R236K	R	+	2	0	MYOZ3	150036581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.989000	0.76219	2.427000	0.82271	0.655000	0.94253	AGA		0.642	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		39	197	0	0	0	1	0	39	197				
ESR1	2099	broad.mit.edu	37	6	152332804	152332804	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:152332804G>T	ENST00000206249.3	+	5	1472	c.1110G>T	c.(1108-1110)ttG>ttT	p.L370F	ESR1_ENST00000427531.2_Missense_Mutation_p.L197F|ESR1_ENST00000338799.5_Missense_Mutation_p.L370F|ESR1_ENST00000456483.2_Missense_Mutation_p.L258F|ESR1_ENST00000443427.1_Missense_Mutation_p.L370F|ESR1_ENST00000440973.1_Missense_Mutation_p.L370F|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	370	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TTGTGGATTTGACCCTCCATG	0.463																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1108-1110)ttG>ttT		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						130.0	118.0	122.0					6																	152332804		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332804G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1110G>T	6.37:g.152332804G>T	ENSP00000206249:p.Leu370Phe					ESR1_ENST00000338799.5_Missense_Mutation_p.L370F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.L258F|ESR1_ENST00000206249.3_Missense_Mutation_p.L370F|ESR1_ENST00000443427.1_Missense_Mutation_p.L370F|ESR1_ENST00000544394.1_Missense_Mutation_p.L197F	p.L370F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1480	+		Ovarian(120;0.0448)	370			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1110G>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.71|19.71	3.877752|3.877752	0.72294|0.72294	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488|ENST00000427531	D;D;D;D;D;T;T|.	0.99098|.	-5.42;-5.42;-5.42;-5.42;-5.42;-0.28;-1.2|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.75332|.	0.3835|.	M|M	0.93638|0.93638	3.44|3.44	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;1.0;1.0;1.0|.	T|.	0.81433|.	-0.0935|.	10|.	0.87932|.	D|.	0|.	.|.	6.9457|6.9457	0.24518|0.24518	0.2144:0.0:0.7856:0.0|0.2144:0.0:0.7856:0.0	.|.	274;151;65;369;370;370|.	B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372|.	.;.;.;.;.;ESR1_HUMAN|.	F|L	370;370;258;151;370;370;298;197;43|275	ENSP00000405330:L370F;ENSP00000342630:L370F;ENSP00000415934:L258F;ENSP00000387500:L370F;ENSP00000206249:L370F;ENSP00000445454:L197F;ENSP00000401995:L43F|.	ENSP00000206249:L370F|.	L|X	+|+	3|2	2|2	ESR1|ESR1	152374497|152374497	0.988000|0.988000	0.35896|0.35896	0.992000|0.992000	0.48379|0.48379	0.997000|0.997000	0.91878|0.91878	2.109000|2.109000	0.41863|0.41863	2.494000|2.494000	0.84150|0.84150	0.591000|0.591000	0.81541|0.81541	TTG|TGA		0.463	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			18	60	1	0	1.96292e-10	1	2.0966e-10	18	60				
IL17RB	55540	broad.mit.edu	37	3	53899156	53899156	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:53899156G>A	ENST00000288167.3	+	11	1339	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	444	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.			Missing (in Ref. 2; AA sequence). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GCACAAATACGTGGTGGTCTA	0.478																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(1330-1332)Gtg>Atg		interleukin 17 receptor B							113.0	103.0	107.0					3																	53899156		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53899156G>A	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1330G>A	3.37:g.53899156G>A	ENSP00000288167:p.Val444Met						p.V444M	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	1339	+			444	Missing (in Ref. 2; AA sequence).		SEFIR.		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.1330G>A	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	G	9.224	1.034105	0.19590	.	.	ENSG00000056736	ENST00000288167	T	0.34859	1.34	5.59	-3.78	0.04333	SEFIR (1);	0.911744	0.09397	N	0.807796	T	0.16171	0.0389	N	0.10874	0.06	0.23030	N	0.998407	B	0.19073	0.033	B	0.10450	0.005	T	0.22836	-1.0205	10	0.35671	T	0.21	-3.4622	6.7082	0.23262	0.3737:0.3715:0.2548:0.0	.	444	Q9NRM6	I17RB_HUMAN	M	444	ENSP00000288167:V444M	ENSP00000288167:V444M	V	+	1	0	IL17RB	53874196	0.386000	0.25180	0.966000	0.40874	0.916000	0.54674	0.051000	0.14141	-0.409000	0.07553	0.650000	0.86243	GTG		0.478	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		37	24	0	0	0	1	0	37	24				
REEP6	92840	broad.mit.edu	37	19	1496452	1496452	+	Splice_Site	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:1496452G>C	ENST00000233596.3	+	4	621	c.517G>C	c.(517-519)Gtc>Ctc	p.V173L		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	173					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCAGGAACGGTGGGTGCTC	0.662																																						ENST00000233596.3																			0				lung(1)|ovary(1)	2						c.e4+1		receptor accessory protein 6							30.0	36.0	34.0					19																	1496452		2202	4295	6497	SO:0001630	splice_region_variant	92840					integral to membrane		g.chr19:1496452G>C	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.517+1G>C	19.37:g.1496452G>C							p.V173_splice	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	621	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	173					B2RE01|D6W5Z0|Q96LM0	Splice_Site	SNP	ENST00000233596.3	37	c.517_splice	CCDS12070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.477218|2.477218	0.44044|0.44044	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000395484|ENST00000233596;ENST00000395479	.|T	.|0.41400	.|1.0	4.49|4.49	3.43|3.43	0.39272|0.39272	.|.	.|.	.|.	.|.	.|.	T|T	0.25269|0.25269	0.0614|0.0614	L|L	0.27053|0.27053	0.805|0.805	0.43756|0.43756	D|D	0.996266|0.996266	.|P	.|0.39391	.|0.671	.|B	.|0.35813	.|0.211	T|T	0.02691|0.02691	-1.1123|-1.1123	6|9	0.23891|0.13470	T|T	0.37|0.59	-0.5917|-0.5917	10.2394|10.2394	0.43303|0.43303	0.095:0.0:0.905:0.0|0.095:0.0:0.905:0.0	.|.	.|173	.|Q96HR9	.|REEP6_HUMAN	P|L	240|173	.|ENSP00000233596:V173L	ENSP00000378865:R240P|ENSP00000233596:V173L	R|V	+|+	2|1	0|0	REEP6|REEP6	1447452|1447452	1.000000|1.000000	0.71417|0.71417	0.820000|0.820000	0.32676|0.32676	0.321000|0.321000	0.28281|0.28281	6.103000|6.103000	0.71492|0.71492	0.886000|0.886000	0.36113|0.36113	0.450000|0.450000	0.29827|0.29827	CGT|GTC		0.662	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393	Missense_Mutation	21	28	0	0	0	1	0	21	28				
IRAK3	11213	broad.mit.edu	37	12	66620516	66620516	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:66620516A>T	ENST00000261233.4	+	7	1088	c.667A>T	c.(667-669)Aac>Tac	p.N223Y	IRAK3_ENST00000457197.2_Missense_Mutation_p.N162Y	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCATCACCCAAACATACTAGA	0.388																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(667-669)Aac>Tac		interleukin-1 receptor-associated kinase 3							137.0	126.0	130.0					12																	66620516		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66620516A>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.667A>T	12.37:g.66620516A>T	ENSP00000261233:p.Asn223Tyr					IRAK3_ENST00000457197.2_Missense_Mutation_p.N162Y	p.N223Y	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	7	1088	+			223			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.667A>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.230082	0.39399	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.49139	0.79;0.79	5.7	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.190330	0.43416	D	0.000569	T	0.65913	0.2737	M	0.87758	2.905	0.42444	D	0.992724	B;D	0.54047	0.176;0.964	B;P	0.58077	0.067;0.832	T	0.69694	-0.5076	9	.	.	.	-17.4414	9.9131	0.41417	0.7675:0.2325:0.0:0.0	.	162;223	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	Y	223;162	ENSP00000261233:N223Y;ENSP00000409852:N162Y	.	N	+	1	0	IRAK3	64906783	1.000000	0.71417	0.998000	0.56505	0.060000	0.15804	3.555000	0.53727	0.997000	0.38969	0.533000	0.62120	AAC		0.388	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			34	19	0	0	0	1	0	34	19				
ASPM	259266	broad.mit.edu	37	1	197111671	197111671	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:197111671C>G	ENST00000367409.4	-	3	1967	c.1711G>C	c.(1711-1713)Gtt>Ctt	p.V571L	ASPM_ENST00000294732.7_Missense_Mutation_p.V571L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	571					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCGAGCAACTGAAGCTGTT	0.348																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1711-1713)Gtt>Ctt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							134.0	141.0	139.0					1																	197111671		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111671C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1711G>C	1.37:g.197111671C>G	ENSP00000356379:p.Val571Leu					ASPM_ENST00000294732.7_Missense_Mutation_p.V571L	p.V571L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1967	-			571					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1711G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568398	0.28003	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.56941	0.43;1.72	5.11	-0.299	0.12808	.	1.272180	0.05465	N	0.551924	T	0.39572	0.1083	L	0.46157	1.445	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.13683	-1.0500	10	0.23891	T	0.37	.	1.0527	0.01583	0.2264:0.2722:0.1109:0.3905	.	571;571	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	L	571	ENSP00000356379:V571L;ENSP00000294732:V571L	ENSP00000294732:V571L	V	-	1	0	ASPM	195378294	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.432000	0.06956	-0.249000	0.09569	0.643000	0.83706	GTT		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		46	56	0	0	0	1	0	46	56				
TMEM185A	84548	broad.mit.edu	37	X	148693015	148693015	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:148693015C>G	ENST00000316916.8	-	2	474	c.170G>C	c.(169-171)gGa>gCa	p.G57A	TMEM185A_ENST00000507237.1_Missense_Mutation_p.G57A|TMEM185A_ENST00000536359.1_Intron	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	57						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACTGAGGCTCCAACAATGAC	0.468																																						ENST00000316916.8																			0				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15						c.(169-171)gGa>gCa		transmembrane protein 185A							220.0	209.0	212.0					X																	148693015		2203	4299	6502	SO:0001583	missense	84548					integral to membrane		g.chrX:148693015C>G	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.170G>C	X.37:g.148693015C>G	ENSP00000359449:p.Gly57Ala					TMEM185A_ENST00000507237.1_Missense_Mutation_p.G57A|TMEM185A_ENST00000536359.1_Intron	p.G57A	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN			2	474	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		57					B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	c.170G>C	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598558	0.87055	.	.	ENSG00000155984	ENST00000316916;ENST00000507237	T;T	0.32753	1.44;1.44	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52034	-0.8629	10	0.36615	T	0.2	.	16.2802	0.82672	0.0:1.0:0.0:0.0	.	57	Q8NFB2	T185A_HUMAN	A	57	ENSP00000359449:G57A;ENSP00000427766:G57A	ENSP00000359449:G57A	G	-	2	0	TMEM185A	148500816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.249000	0.78278	2.040000	0.60383	0.594000	0.82650	GGA		0.468	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508		207	203	0	0	0	1	0	207	203				
ANXA2R	389289	broad.mit.edu	37	5	43040044	43040044	+	Silent	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:43040044C>A	ENST00000314890.3	-	2	1524	c.105G>T	c.(103-105)ccG>ccT	p.P35P	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	35																	GAAGAGGCCACGGCCCACGAT	0.567											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(103-105)ccG>ccT		annexin A2 receptor							41.0	46.0	44.0					5																	43040044		2203	4300	6503	SO:0001819	synonymous_variant	389289						receptor activity	g.chr5:43040044C>A	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.105G>T	5.37:g.43040044C>A			OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.P35P	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1524	-			35					Q8NHX5	Silent	SNP	ENST00000314890.3	37	c.105G>T	CCDS34153.1																																																																																				0.567	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		106	119	1	0	3.19611e-63	1	3.72047e-63	106	119				
ERBB4	2066	broad.mit.edu	37	2	212248564	212248564	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:212248564T>C	ENST00000342788.4	-	28	4013	c.3703A>G	c.(3703-3705)Aaa>Gaa	p.K1235E	ERBB4_ENST00000402597.1_Missense_Mutation_p.K1225E|ERBB4_ENST00000436443.1_Missense_Mutation_p.K1219E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1235					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCAAACGCTTTCTTGGCCTTC	0.488										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3703-3705)Aaa>Gaa		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							247.0	227.0	234.0					2																	212248564		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248564T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3703A>G	2.37:g.212248564T>C	ENSP00000342235:p.Lys1235Glu	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.K1225E|ERBB4_ENST00000436443.1_Missense_Mutation_p.K1219E	p.K1235E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	28	4013	-		Renal(323;0.06)|Lung NSC(271;0.197)	1235					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3703A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	8.862	0.947220	0.18356	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75260	-0.92;-0.92;-0.92	5.11	5.11	0.69529	.	0.129044	0.53938	D	0.000054	T	0.69287	0.3094	L	0.42245	1.32	0.52501	D	0.999953	B;B;B;B	0.28933	0.187;0.228;0.187;0.118	B;B;B;B	0.32762	0.152;0.138;0.152;0.073	T	0.67538	-0.5645	10	0.37606	T	0.19	.	15.3585	0.74448	0.0:0.0:0.0:1.0	.	1209;1225;1219;1235	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	E	1235;1219;1225	ENSP00000342235:K1235E;ENSP00000403204:K1219E;ENSP00000385565:K1225E	ENSP00000342235:K1235E	K	-	1	0	ERBB4	211956809	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.734000	0.68580	2.269000	0.75478	0.455000	0.32223	AAA		0.488	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		65	47	0	0	0	1	0	65	47				
CFAP44	55779	broad.mit.edu	37	3	113146035	113146035	+	Splice_Site	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:113146035T>G	ENST00000295868.2	-	3	414	c.252A>C	c.(250-252)acA>acC	p.T84T	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Splice_Site_p.T84T|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATACCTACCTGTAGTGCTTT	0.363																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.e3+1		WD repeat domain 52							152.0	140.0	144.0					3																	113146035		2203	4300	6503	SO:0001630	splice_region_variant	55779							g.chr3:113146035T>G																												ENST00000295868.2:c.253+1A>C	3.37:g.113146035T>G						WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Splice_Site_p.T84_splice	p.T84_splice	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			3	318	-			84						Splice_Site	SNP	ENST00000295868.2	37	c.253_splice	CCDS2972.1																																																																																				0.363	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Silent	16	74	0	0	0	1	0	16	74				
AGAP7P	653268	broad.mit.edu	37	10	51465226	51465226	+	Silent	SNP	T	T	G	rs1047416		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:51465226T>G	ENST00000374095.5	-	7	1355	c.1230A>C	c.(1228-1230)gcA>gcC	p.A410A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		410	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGACCCATGCATCCCGCT	0.542																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1228-1230)gcA>gcC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							19.0	24.0	22.0					10																	51465226		2172	4242	6414	SO:0001819	synonymous_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465226T>G																												ENST00000374095.5:c.1230A>C	10.37:g.51465226T>G							p.A410A	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1355	-			410			PH.		A6NGH4	Silent	SNP	ENST00000374095.5	37	c.1230A>C	CCDS41524.1																																																																																				0.542	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			4	175	0	0	0	1	0	4	175				
FLRT3	23767	broad.mit.edu	37	20	14306375	14306375	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:14306375G>C	ENST00000378053.3	-	2	2034	c.1778C>G	c.(1777-1779)tCt>tGt	p.S593C	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S593C|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	593					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.S593Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATCTGAAAAGAAGTTTCCCT	0.398																																						ENST00000378053.3																			1	Substitution - Missense(1)	p.S593Y(1)	large_intestine(1)	breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1777-1779)tCt>tGt		fibronectin leucine rich transmembrane protein 3							184.0	166.0	172.0					20																	14306375		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306375G>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1778C>G	20.37:g.14306375G>C	ENSP00000367292:p.Ser593Cys					MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S593C|MACROD2_ENST00000310348.4_Intron	p.S593C	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2034	-		Colorectal(1;0.0464)	593					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1778C>G	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101353	0.56183	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.65549	-0.16;-0.16	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.73487	-0.3967	10	0.66056	D	0.02	-12.6686	20.8598	0.99761	0.0:0.0:1.0:0.0	.	593	Q9NZU0	FLRT3_HUMAN	C	593	ENSP00000367292:S593C;ENSP00000339912:S593C	ENSP00000339912:S593C	S	-	2	0	FLRT3	14254375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	TCT		0.398	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		16	125	0	0	0	1	0	16	125				
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:65413405C>T	ENST00000343002.2	+	7	1958	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000519389.1_Nonsense_Mutation_p.R486*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1456-1458)Cga>Tga		hephaestin							47.0	42.0	44.0					X																	65413405		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413405C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1294C>T	X.37:g.65413405C>T	ENSP00000343939:p.Arg432*					HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*	p.R486*			Q9BQS7	HEPH_HUMAN			8	1635	+			432			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.1456C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.919599	0.97105	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	.	.	.	5.39	4.47	0.54385	.	0.346769	0.27185	N	0.020534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	9.3231	0.37977	0.1586:0.6896:0.1518:0.0	.	.	.	.	X	486;435;165;435;435;432;432	.	ENSP00000337418:R165X	R	+	1	2	HEPH	65330130	0.001000	0.12720	1.000000	0.80357	0.984000	0.73092	0.645000	0.24782	2.259000	0.74868	0.594000	0.82650	CGA		0.368	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		3	16	0	0	0	1	0	3	16				
MME	4311	broad.mit.edu	37	3	154878231	154878231	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:154878231C>G	ENST00000460393.1	+	17	1774	c.1654C>G	c.(1654-1656)Cag>Gag	p.Q552E	MME_ENST00000462745.1_Missense_Mutation_p.Q552E|MME_ENST00000492661.1_Missense_Mutation_p.Q552E|MME_ENST00000493237.1_Missense_Mutation_p.Q552E|MME_ENST00000360490.2_Missense_Mutation_p.Q552E|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	552					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGGAAGAAATCAGATAGGTAA	0.333																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1654-1656)Cag>Gag		membrane metallo-endopeptidase	Candoxatril(DB00616)						162.0	175.0	171.0					3																	154878231		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154878231C>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1654C>G	3.37:g.154878231C>G	ENSP00000418525:p.Gln552Glu					MME_ENST00000462745.1_Missense_Mutation_p.Q552E|MME_ENST00000492661.1_Missense_Mutation_p.Q552E|MME_ENST00000493237.1_Missense_Mutation_p.Q552E|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.Q552E	p.Q552E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		17	1774	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	552					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1654C>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013528	0.75161	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.5	5.5	0.81552	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.061231	0.64402	D	0.000004	D	0.87803	0.6269	N	0.05510	-0.035	0.58432	D	0.99999	D	0.67145	0.996	D	0.67103	0.949	D	0.86249	0.1648	10	0.20046	T	0.44	-13.0766	19.3983	0.94617	0.0:1.0:0.0:0.0	.	552	P08473	NEP_HUMAN	E	552	ENSP00000420389:Q552E;ENSP00000418525:Q552E;ENSP00000419653:Q552E;ENSP00000417079:Q552E;ENSP00000353679:Q552E	ENSP00000353679:Q552E	Q	+	1	0	MME	156360925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.884000	0.69729	2.596000	0.87737	0.650000	0.86243	CAG		0.333	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		51	236	0	0	0	1	0	51	236				
NPAP1	23742	broad.mit.edu	37	15	24922513	24922513	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:24922513C>G	ENST00000329468.2	+	1	1973	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	500	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCCCCAACACCTCCTAGCTCC	0.517																																						ENST00000329468.2																			0											c.(1498-1500)cCt>cGt		nuclear pore associated protein 1							188.0	200.0	196.0					15																	24922513		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922513C>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1499C>G	15.37:g.24922513C>G	ENSP00000333735:p.Pro500Arg						p.P500R	NM_018958.2	NP_061831.2					1	1973	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1499C>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.006	0.756563	0.15846	.	.	ENSG00000185823	ENST00000329468	T	0.12147	2.71	1.74	-0.489	0.12052	.	2.846930	0.01241	N	0.008603	T	0.10078	0.0247	L	0.29908	0.895	0.09310	N	1	P	0.44734	0.842	B	0.38378	0.272	T	0.16364	-1.0405	10	0.56958	D	0.05	.	2.884	0.05656	0.0:0.5018:0.298:0.2003	.	500	Q9NZP6	CO002_HUMAN	R	500	ENSP00000333735:P500R	ENSP00000333735:P500R	P	+	2	0	C15orf2	22473606	0.000000	0.05858	0.007000	0.13788	0.126000	0.20510	-0.588000	0.05774	-0.119000	0.11830	0.313000	0.20887	CCT		0.517	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		64	170	0	0	0	1	0	64	170				
EGFR	1956	broad.mit.edu	37	7	55225403	55225403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:55225403G>C	ENST00000275493.2	+	11	1432	c.1255G>C	c.(1255-1257)Gcc>Ccc	p.A419P	EGFR_ENST00000455089.1_Missense_Mutation_p.A374P|EGFR_ENST00000442591.1_Missense_Mutation_p.A419P|EGFR_ENST00000344576.2_Missense_Mutation_p.A419P|EGFR_ENST00000342916.3_Missense_Mutation_p.A419P|EGFR_ENST00000454757.2_Missense_Mutation_p.A366P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	419					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|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 fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGACCTCCATGCCTTTGAGAA	0.448		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1255-1257)Gcc>Ccc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						103.0	89.0	94.0					7																	55225403		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55225403G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1255G>C	7.37:g.55225403G>C	ENSP00000275493:p.Ala419Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.A419P|EGFR_ENST00000454757.2_Missense_Mutation_p.A366P|EGFR_ENST00000455089.1_Missense_Mutation_p.A374P|EGFR_ENST00000344576.2_Missense_Mutation_p.A419P|EGFR_ENST00000442591.1_Missense_Mutation_p.A419P	p.A419P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		11	1432	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		419					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1255G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166344	0.57476	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.79	4.9	0.64082	EGF receptor, L domain (1);	0.259259	0.44483	D	0.000442	T	0.24928	0.0605	N	0.04090	-0.28	0.48632	D	0.999683	B;B;B;B	0.16166	0.006;0.002;0.016;0.004	B;B;B;B	0.25614	0.014;0.024;0.062;0.018	T	0.06899	-1.0801	10	0.51188	T	0.08	.	13.3189	0.60423	0.0763:0.0:0.9237:0.0	.	374;419;419;419	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	P	374;419;289;419;419;419;366;213	ENSP00000415559:A374P;ENSP00000342376:A419P;ENSP00000345973:A419P;ENSP00000275493:A419P;ENSP00000410031:A419P;ENSP00000395243:A366P	ENSP00000275493:A419P	A	+	1	0	EGFR	55192897	0.984000	0.35163	0.975000	0.42487	0.894000	0.52154	3.434000	0.52841	1.443000	0.47586	0.561000	0.74099	GCC		0.448	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		11	254	0	0	0	1	0	11	254				
GLYAT	10249	broad.mit.edu	37	11	58480315	58480315	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:58480315G>C	ENST00000344743.3	-	4	375	c.234C>G	c.(232-234)atC>atG	p.I78M	GLYAT_ENST00000278400.3_Missense_Mutation_p.I78M|GLYAT_ENST00000529732.1_Missense_Mutation_p.I78M	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	78					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTTGGAGTAGATTTGGTAAG	0.348																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(232-234)atC>atG		glycine-N-acyltransferase	Glycine(DB00145)						197.0	181.0	187.0					11																	58480315		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480315G>C	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.234C>G	11.37:g.58480315G>C	ENSP00000340200:p.Ile78Met					GLYAT_ENST00000529732.1_Missense_Mutation_p.I78M|GLYAT_ENST00000278400.3_Missense_Mutation_p.I78M	p.I78M	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			4	375	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	78					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.234C>G	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102774	0.20632	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.17213	2.29;2.29;2.29	5.76	-0.988	0.10245	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.492800	0.20138	N	0.098454	T	0.31199	0.0789	M	0.78344	2.41	0.09310	N	0.999994	D;D	0.59357	0.985;0.979	D;D	0.65010	0.922;0.931	T	0.07385	-1.0775	10	0.52906	T	0.07	-17.7341	4.3201	0.11013	0.2252:0.0:0.3945:0.3803	.	78;78	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	M	78	ENSP00000340200:I78M;ENSP00000431688:I78M;ENSP00000278400:I78M	ENSP00000278400:I78M	I	-	3	3	GLYAT	58236891	0.214000	0.23563	0.076000	0.20297	0.077000	0.17291	-0.134000	0.10436	-0.100000	0.12241	-0.806000	0.03193	ATC		0.348	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			27	76	0	0	0	1	0	27	76				
INVS	27130	broad.mit.edu	37	9	103055252	103055252	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:103055252A>T	ENST00000262457.2	+	14	2898	c.2713A>T	c.(2713-2715)Aga>Tga	p.R905*	INVS_ENST00000541287.1_Nonsense_Mutation_p.R809*|INVS_ENST00000262456.2_Nonsense_Mutation_p.R735*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	905					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GATAATTCAGAGAGAACGAAG	0.537																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2713-2715)Aga>Tga		inversin							49.0	51.0	50.0					9																	103055252		2203	4300	6503	SO:0001587	stop_gained	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103055252A>T	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2713A>T	9.37:g.103055252A>T	ENSP00000262457:p.Arg905*					INVS_ENST00000541287.1_Nonsense_Mutation_p.R809*|INVS_ENST00000262456.2_Nonsense_Mutation_p.R735*	p.R905*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			14	2898	+		Acute lymphoblastic leukemia(62;0.056)	905					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Nonsense_Mutation	SNP	ENST00000262457.2	37	c.2713A>T	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	A	40	8.250623	0.98727	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	.	.	.	5.45	1.68	0.24146	.	0.313241	0.38164	N	0.001791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	5.7154	0.17958	0.5827:0.3305:0.0867:0.0	.	.	.	.	X	905;809;735	.	ENSP00000262456:R735X	R	+	1	2	INVS	102095073	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	1.562000	0.36353	0.037000	0.15575	-0.321000	0.08615	AGA		0.537	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		20	65	0	0	0	1	0	20	65				
MAGI1	9223	broad.mit.edu	37	3	65425585	65425585	+	Silent	SNP	C	C	T	rs374381483		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58.0	58.0	58.0					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	87	0	0	0	1	0	4	87				
EIF3B	8662	broad.mit.edu	37	7	2412371	2412371	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:2412371C>T	ENST00000360876.4	+	12	1807	c.1751C>T	c.(1750-1752)gCt>gTt	p.A584V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A584V	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CACGGAGAGGCTCCGCGGATA	0.468																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1750-1752)gCt>gTt		eukaryotic translation initiation factor 3, subunit B							122.0	106.0	111.0					7																	2412371		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2412371C>T	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1751C>T	7.37:g.2412371C>T	ENSP00000354125:p.Ala584Val					EIF3B_ENST00000397011.2_Missense_Mutation_p.A584V	p.A584V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	12	1807	+		Ovarian(82;0.0253)	584						Missense_Mutation	SNP	ENST00000360876.4	37	c.1751C>T	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691845	0.48097	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05199	3.48;3.48	5.55	4.66	0.58398	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.311339	0.40640	N	0.001046	T	0.06826	0.0174	L	0.39245	1.2	0.29394	N	0.862436	B	0.10296	0.003	B	0.16722	0.016	T	0.08086	-1.0739	10	0.48119	T	0.1	-17.0403	9.9131	0.41417	0.0:0.7876:0.14:0.0723	.	584	P55884	EIF3B_HUMAN	V	584;584;584;508	ENSP00000354125:A584V;ENSP00000380206:A584V	ENSP00000316638:A584V	A	+	2	0	EIF3B	2378897	1.000000	0.71417	0.720000	0.30636	0.762000	0.43233	4.727000	0.61993	1.329000	0.45376	0.655000	0.94253	GCT		0.468	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			4	73	0	0	0	1	0	4	73				
LAMA3	3909	broad.mit.edu	37	18	21438783	21438783	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:21438783G>A	ENST00000313654.9	+	34	4653	c.4412G>A	c.(4411-4413)cGa>cAa	p.R1471Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1471Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1471					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCACATAAGCGAAGGACTAAG	0.443																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4411-4413)cGa>cAa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						166.0	150.0	155.0					18																	21438783		1971	4156	6127	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21438783G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4412G>A	18.37:g.21438783G>A	ENSP00000324532:p.Arg1471Gln					LAMA3_ENST00000399516.3_Missense_Mutation_p.R1471Q	p.R1471Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			34	4653	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1471					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4412G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	8.521	0.868760	0.17322	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18960	2.18;2.18	5.47	3.66	0.41972	Growth factor, receptor (1);	.	.	.	.	T	0.17238	0.0414	L	0.52905	1.665	0.24527	N	0.994132	B;B	0.31769	0.339;0.072	B;B	0.20384	0.029;0.006	T	0.15838	-1.0423	9	0.23302	T	0.38	.	8.7493	0.34605	0.2905:0.0:0.7095:0.0	.	1471;1471	Q6VU67;Q16787	.;LAMA3_HUMAN	Q	1471;1471;1469	ENSP00000324532:R1471Q;ENSP00000382432:R1471Q	ENSP00000324532:R1471Q	R	+	2	0	LAMA3	19692781	0.576000	0.26700	0.001000	0.08648	0.153000	0.21895	2.009000	0.40903	0.670000	0.31165	0.561000	0.74099	CGA		0.443	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		58	40	0	0	0	1	0	58	40				
ADCY2	108	broad.mit.edu	37	5	7698431	7698431	+	Silent	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:7698431C>G	ENST00000338316.4	+	7	1142	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L	ADCY2_ENST00000537121.1_Silent_p.L171L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	351					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTATATCTCTCCCTAACCATG	0.373																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1051-1053)ctC>ctG		adenylate cyclase 2 (brain)							165.0	167.0	166.0					5																	7698431		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7698431C>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1053C>G	5.37:g.7698431C>G						ADCY2_ENST00000537121.1_Silent_p.L171L	p.L351L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			7	1142	+			351					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1053C>G	CCDS3872.2																																																																																				0.373	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		63	52	0	0	0	1	0	63	52				
STX7	8417	broad.mit.edu	37	6	132791109	132791109	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:132791109G>C	ENST00000367941.2	-	7	631	c.518C>G	c.(517-519)tCt>tGt	p.S173C	STX7_ENST00000448348.3_5'Flank|STX7_ENST00000367937.4_Missense_Mutation_p.S173C	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	173	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		CCTGATAGAAGATTCTCTCTC	0.428																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(517-519)tCt>tGt		syntaxin 7							110.0	92.0	98.0					6																	132791109		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132791109G>C	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.518C>G	6.37:g.132791109G>C	ENSP00000356918:p.Ser173Cys					STX7_ENST00000367937.4_Missense_Mutation_p.S173C	p.S173C	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	7	631	-	Breast(56;0.0615)		173			t-SNARE coiled-coil homology.		E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.518C>G	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396134	0.62177	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.23552	1.9;1.9;1.9	5.17	4.3	0.51218	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.281504	0.41194	D	0.000923	T	0.33847	0.0877	L	0.53249	1.67	0.45733	D	0.998634	D	0.69078	0.997	D	0.68353	0.957	T	0.18777	-1.0326	10	0.66056	D	0.02	-11.0355	14.1437	0.65336	0.0731:0.0:0.9269:0.0	.	173	O15400	STX7_HUMAN	C	173;173;128;173	ENSP00000356918:S173C;ENSP00000412202:S173C;ENSP00000356914:S173C	ENSP00000309600:S128C	S	-	2	0	STX7	132832802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.731000	0.68554	1.284000	0.44531	0.655000	0.94253	TCT		0.428	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			4	45	0	0	0	1	0	4	45				
HTR5A	3361	broad.mit.edu	37	7	154863002	154863002	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:154863002C>T	ENST00000287907.2	+	1	969	c.393C>T	c.(391-393)aaC>aaT	p.N131N	HTR5A-AS1_ENST00000395731.2_Silent_p.T4T|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Silent_p.T4T	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	131					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCATCTGGAACGTGACGGCCA	0.642																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(391-393)aaC>aaT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							74.0	55.0	62.0					7																	154863002		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863002C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.393C>T	7.37:g.154863002C>T						AC093726.4_ENST00000543018.1_Silent_p.T4T|AC093726.4_ENST00000395731.2_Silent_p.T4T|AC093726.4_ENST00000493904.1_5'UTR	p.N131N	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	969	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	131					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.393C>T	CCDS5936.1																																																																																				0.642	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		4	62	0	0	0	1	0	4	62				
HAVCR1	26762	broad.mit.edu	37	5	156456717	156456717	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:156456717T>G	ENST00000522693.1	-	8	1419	c.1088A>C	c.(1087-1089)tAc>tCc	p.Y363S	HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.Y363S|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000517644.1_5'Flank			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCATGGGCGTAAACTCTCAA	0.418																																						ENST00000425854.1																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1087-1089)tAc>tCc		hepatitis A virus cellular receptor 1							100.0	89.0	92.0					5																	156456717		1897	4119	6016	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156456717T>G	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000522693.1:c.1088A>C	5.37:g.156456717T>G	ENSP00000428524:p.Tyr363Ser					HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.Y363S|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000523175.1_3'UTR	p.Y363S			Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1620	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	0					O43656	Missense_Mutation	SNP	ENST00000522693.1	37	c.1088A>C		.	.	.	.	.	.	.	.	.	.	T	12.34	1.908807	0.33721	.	.	ENSG00000113249	ENST00000522693;ENST00000425854	T;T	0.19669	2.13;2.13	3.61	-2.99	0.05497	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.26744	0.158	B	0.17722	0.019	T	0.26224	-1.0109	8	0.87932	D	0	-0.2512	4.6749	0.12706	0.0:0.3627:0.2962:0.3411	.	363	E9PFX0	.	S	363	ENSP00000428524:Y363S;ENSP00000403333:Y363S	ENSP00000403333:Y363S	Y	-	2	0	HAVCR1	156389295	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.392000	0.07314	-0.537000	0.06290	-0.904000	0.02843	TAC		0.418	HAVCR1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373697.1			11	32	0	0	0	1	0	11	32				
ALKBH5	54890	broad.mit.edu	37	17	18088053	18088053	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:18088053G>A	ENST00000399138.4	+	1	501	c.496G>A	c.(496-498)Gag>Aag	p.E166K	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	166					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGAGATCCCCGAGTGGGTGCA	0.672																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(496-498)Gag>Aag		alkB, alkylation repair homolog 5 (E. coli)							27.0	31.0	30.0					17																	18088053		1924	4125	6049	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18088053G>A	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.496G>A	17.37:g.18088053G>A	ENSP00000382091:p.Glu166Lys					RP11-258F1.1_ENST00000583062.1_RNA|ALKBH5_ENST00000541285.1_Intron	p.E166K	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			1	501	+	all_neural(463;0.228)		166					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.496G>A	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885224	0.51908	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	T	0.30448	1.53	4.84	3.87	0.44632	.	0.488251	0.24583	N	0.037298	T	0.17874	0.0429	L	0.34521	1.04	0.29583	N	0.848999	P	0.36660	0.564	B	0.24541	0.054	T	0.08932	-1.0698	10	0.11794	T	0.64	-6.3751	13.0984	0.59206	0.0774:0.0:0.9226:0.0	.	166	Q6P6C2-2	.	K	166;155;166	ENSP00000382091:E166K	ENSP00000261650:E166K	E	+	1	0	ALKBH5	18028778	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.073000	0.64395	1.254000	0.44035	0.655000	0.94253	GAG		0.672	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		17	55	0	0	0	1	0	17	55				
CSH1	1442	broad.mit.edu	37	17	61972625	61972625	+	Intron	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:61972625G>C	ENST00000316193.8	-	5	598				CSH1_ENST00000453363.3_Intron|CSH1_ENST00000329882.8_Missense_Mutation_p.Q222E	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTTGGGCACTGTTCCCTCCCT	0.547									Russell-Silver syndrome																													ENST00000329882.8																			0				central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(664-666)Cag>Gag		chorionic somatomammotropin hormone 1 (placental lactogen)							76.0	76.0	76.0					17																	61972625		2193	4300	6493	SO:0001627	intron_variant	1442	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972625G>C	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.457-46C>G	17.37:g.61972625G>C						CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron	p.Q222E			P01243	CSH_HUMAN			4	734	-			0					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.664C>G	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	g	10.29	1.309750	0.23821	.	.	ENSG00000136488	ENST00000329882	D	0.87179	-2.22	2.56	1.5	0.22942	.	3.219470	0.03036	N	0.152734	T	0.81814	0.4902	.	.	.	0.09310	N	0.999999	P	0.36222	0.544	B	0.32393	0.145	T	0.70443	-0.4870	9	0.87932	D	0	.	8.2209	0.31541	0.0:0.2486:0.7514:0.0	.	222	A6NFB4	.	E	222	ENSP00000333268:Q222E	ENSP00000333268:Q222E	Q	-	1	0	CSH1	59326357	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.325000	0.07976	0.352000	0.24053	0.313000	0.20887	CAG		0.547	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		47	110	0	0	0	1	0	47	110				
RACGAP1	29127	broad.mit.edu	37	12	50385913	50385913	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:50385913C>T	ENST00000548961.1	-	2	117	c.112G>A	c.(112-114)Gtt>Att	p.V38I	RACGAP1_ENST00000454520.2_Missense_Mutation_p.V528I|RACGAP1_ENST00000312377.5_Missense_Mutation_p.V528I|RACGAP1_ENST00000427314.2_Missense_Mutation_p.V528I|RACGAP1_ENST00000547905.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000434422.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000551016.1_Missense_Mutation_p.V528I					Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AGGCGCTCAACCACCTAAAAG	0.443																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(1582-1584)Gtt>Att		Rac GTPase activating protein 1							99.0	97.0	98.0					12																	50385913		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50385913C>T		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000548961.1:c.112G>A	12.37:g.50385913C>T	ENSP00000446889:p.Val38Ile					RACGAP1_ENST00000551016.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000548961.1_Missense_Mutation_p.V38I|RACGAP1_ENST00000547905.1_Missense_Mutation_p.V528I|RACGAP1_ENST00000454520.2_Missense_Mutation_p.V528I|RACGAP1_ENST00000312377.5_Missense_Mutation_p.V528I|RACGAP1_ENST00000427314.2_Missense_Mutation_p.V528I	p.V528I			Q9H0H5	RGAP1_HUMAN			16	1883	-			528			Rho-GAP.			Missense_Mutation	SNP	ENST00000548961.1	37	c.1582G>A		.	.	.	.	.	.	.	.	.	.	C	15.04	2.714951	0.48622	.	.	ENSG00000161800	ENST00000548961;ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.76	4.87	0.63330	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.101398	0.64402	N	0.000002	T	0.20455	0.0492	L	0.31420	0.93	0.80722	D	1	B	0.17465	0.022	B	0.12837	0.008	T	0.02743	-1.1116	10	0.30854	T	0.27	-8.2571	14.8622	0.70389	0.0:0.9313:0.0:0.0687	.	528	Q9H0H5	RGAP1_HUMAN	I	38;528;528;528;528;528;528;264	ENSP00000446889:V38I;ENSP00000404190:V528I;ENSP00000309871:V528I;ENSP00000413241:V528I;ENSP00000404808:V528I;ENSP00000449374:V528I;ENSP00000449370:V528I;ENSP00000449565:V264I	ENSP00000309871:V528I	V	-	1	0	RACGAP1	48672180	0.904000	0.30761	1.000000	0.80357	0.982000	0.71751	1.782000	0.38654	1.577000	0.49804	0.650000	0.86243	GTT		0.443	RACGAP1-017	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000406031.2	NM_013277		67	99	0	0	0	1	0	67	99				
LRP1	4035	broad.mit.edu	37	12	57539234	57539234	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:57539234G>A	ENST00000243077.3	+	6	1268	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	LRP1_ENST00000338962.4_Missense_Mutation_p.V268M|LRP1_ENST00000553277.1_Missense_Mutation_p.V268M|LRP1_ENST00000554174.1_Missense_Mutation_p.V268M|RP11-545N8.3_ENST00000554476.1_RNA|RP11-545N8.3_ENST00000555461.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	268					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.V268M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AAAGGGCTTCGTGGATGAGCA	0.597																																						ENST00000243077.3																			1	Substitution - Missense(1)	p.V268M(1)	lung(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(802-804)Gtg>Atg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						105.0	81.0	89.0					12																	57539234		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57539234G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.802G>A	12.37:g.57539234G>A	ENSP00000243077:p.Val268Met					LRP1_ENST00000553277.1_Missense_Mutation_p.V268M|LRP1_ENST00000554174.1_Missense_Mutation_p.V268M|LRP1_ENST00000338962.4_Missense_Mutation_p.V268M|RP11-545N8.3_ENST00000555461.1_RNA	p.V268M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	6	1268	+			268					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.802G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556685	0.65425	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	4.83	4.83	0.62350	Six-bladed beta-propeller, TolB-like (1);	0.170597	0.38837	N	0.001558	D	0.92358	0.7575	L	0.31476	0.935	0.33281	D	0.562266	D;P;B;D	0.67145	0.991;0.928;0.279;0.996	P;B;B;P	0.49502	0.613;0.288;0.023;0.613	D	0.94065	0.7330	10	0.46703	T	0.11	.	15.8256	0.78703	0.0:0.0:1.0:0.0	.	268;268;268;268	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	M	268	ENSP00000451449:V268M;ENSP00000243077:V268M;ENSP00000341264:V268M;ENSP00000451737:V268M	ENSP00000243077:V268M	V	+	1	0	LRP1	55825501	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.715000	0.61909	2.696000	0.92011	0.555000	0.69702	GTG		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		30	92	0	0	0	1	0	30	92				
TP53BP1	7158	broad.mit.edu	37	15	43705329	43705329	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:43705329C>T	ENST00000263801.3	-	24	5530	c.5278G>A	c.(5278-5280)Gaa>Aaa	p.E1760K	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1715K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1765K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1763K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1760	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Poly-Glu.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCTCTTCTTCACTGCTTCCT	0.527								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5278-5280)Gaa>Aaa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							109.0	85.0	93.0					15																	43705329		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43705329C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5278G>A	15.37:g.43705329C>T	ENSP00000263801:p.Glu1760Lys					TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1715K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1765K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1763K	p.E1760K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	24	5530	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1760			BRCT 1.|Poly-Glu.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5278G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199441	0.94997	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	6.03	6.03	0.97812	BRCT (3);	0.114699	0.64402	D	0.000008	D	0.92990	0.7769	M	0.66939	2.045	0.45318	D	0.998316	D;D;D	0.76494	0.999;0.991;0.999	D;D;D	0.71414	0.94;0.946;0.973	D	0.91836	0.5479	10	0.49607	T	0.09	-18.1024	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1760;1765;1763	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	K	1760;1765;1715;1763	ENSP00000263801:E1760K;ENSP00000371475:E1765K;ENSP00000371470:E1715K;ENSP00000393497:E1763K	ENSP00000263801:E1760K	E	-	1	0	TP53BP1	41492621	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.963000	0.70372	2.861000	0.98227	0.655000	0.94253	GAA		0.527	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	40	0	0	0	1	0	7	40				
TRIO	7204	broad.mit.edu	37	5	14420038	14420038	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:14420038C>G	ENST00000344204.4	+	34	5135	c.5111C>G	c.(5110-5112)tCc>tGc	p.S1704C	TRIO_ENST00000537187.1_Missense_Mutation_p.S1704C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1704	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTGACCGCTCCCCAGCGGCA	0.592																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(5110-5112)tCc>tGc		trio Rho guanine nucleotide exchange factor							51.0	48.0	49.0					5																	14420038		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14420038C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5111C>G	5.37:g.14420038C>G	ENSP00000339299:p.Ser1704Cys					TRIO_ENST00000537187.1_Missense_Mutation_p.S1704C	p.S1704C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			34	5135	+	Lung NSC(4;0.000742)		1704			SH3 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.5111C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721964	0.48728	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.14893	2.47;2.47	5.03	5.03	0.67393	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.978;0.997	P;D	0.66497	0.887;0.944	T	0.10474	-1.0628	10	0.59425	D	0.04	.	18.3835	0.90459	0.0:1.0:0.0:0.0	.	1704;1704	O75962-5;O75962	.;TRIO_HUMAN	C	1704;1704;1391	ENSP00000339299:S1704C;ENSP00000446348:S1704C	ENSP00000339299:S1704C	S	+	2	0	TRIO	14473038	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	7.755000	0.85180	2.347000	0.79759	0.491000	0.48974	TCC		0.592	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		24	19	0	0	0	1	0	24	19				
FREM1	158326	broad.mit.edu	37	9	14863832	14863832	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:14863832C>G	ENST00000380880.3	-	3	1087	c.304G>C	c.(304-306)Gac>Cac	p.D102H	FREM1_ENST00000380881.4_Missense_Mutation_p.D102H|FREM1_ENST00000422223.2_Missense_Mutation_p.D102H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	102					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCACTGTGTCTTCATCAAGA	0.423																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(304-306)Gac>Cac		FRAS1 related extracellular matrix 1							120.0	119.0	119.0					9																	14863832		1979	4157	6136	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14863832C>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.304G>C	9.37:g.14863832C>G	ENSP00000370262:p.Asp102His					FREM1_ENST00000422223.2_Missense_Mutation_p.D102H|FREM1_ENST00000380880.3_Missense_Mutation_p.D102H	p.D102H			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	4	1119	-			102					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.304G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966508	0.92855	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.20463	2.09;2.07;2.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61505	-0.7049	10	0.87932	D	0	-19.2916	19.8046	0.96525	0.0:1.0:0.0:0.0	.	102	Q5H8C1	FREM1_HUMAN	H	102	ENSP00000370263:D102H;ENSP00000412940:D102H;ENSP00000370262:D102H	ENSP00000370257:D102H	D	-	1	0	FREM1	14853832	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.445000	0.80570	2.748000	0.94277	0.655000	0.94253	GAC		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		10	16	0	0	0	1	0	10	16				
DDX5	1655	broad.mit.edu	37	17	62499306	62499306	+	Splice_Site	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:62499306T>C	ENST00000225792.5	-	7	1211	c.810A>G	c.(808-810)agA>agG	p.R270R	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000578804.1_Splice_Site_p.R270R|DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Splice_Site_p.R191R	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	270	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GGACACTTACTCTTATTTGAT	0.378			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e7+1		DEAD (Asp-Glu-Ala-Asp) box helicase 5							149.0	152.0	151.0					17																	62499306		2203	4300	6503	SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499306T>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.810+1A>G	17.37:g.62499306T>C						DDX5_ENST00000450599.2_Splice_Site_p.R191_splice|DDX5_ENST00000578804.1_Splice_Site_p.R270_splice	p.R270_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		7	1211	-	Breast(5;2.15e-14)		270			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	SNP	ENST00000225792.5	37	c.810_splice	CCDS11659.1																																																																																				0.378	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Silent	83	82	0	0	0	1	0	83	82				
MTAP	4507	broad.mit.edu	37	9	21854752	21854752	+	Silent	SNP	G	G	A	rs372861176		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:21854752G>A	ENST00000460874.2	+	6	849	c.624G>A	c.(622-624)gcG>gcA	p.A208A	MTAP_ENST00000380172.4_Silent_p.A191A|MTAP_ENST00000580900.1_Silent_p.A191A|RP11-145E5.5_ENST00000404796.2_Intron					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		CCTGGGGGGCGGATGTTATCA	0.532																																						ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(571-573)gcG>gcA		methylthioadenosine phosphorylase	Adenine(DB00173)	G		1,4405	2.1+/-5.4	0,1,2202	78.0	77.0	77.0		573	-10.6	0.5	9		77	0,8600		0,0,4300	no	coding-synonymous	MTAP	NM_002451.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		191/284	21854752	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21854752G>A	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.624G>A	9.37:g.21854752G>A						RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Silent_p.A208A|MTAP_ENST00000580900.1_Silent_p.A191A	p.A191A	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	6	779	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	191						Silent	SNP	ENST00000460874.2	37	c.573G>A																																																																																					0.532	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		57	33	0	0	0	1	0	57	33				
FHL1	2273	broad.mit.edu	37	X	135289240	135289240	+	Silent	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:135289240C>A	ENST00000345434.3	+	3	303	c.222C>A	c.(220-222)ccC>ccA	p.P74P	FHL1_ENST00000370683.1_Silent_p.P90P|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Silent_p.P74P|FHL1_ENST00000370690.3_Silent_p.P74P|FHL1_ENST00000370676.3_Silent_p.P90P|FHL1_ENST00000394153.2_Silent_p.P74P|FHL1_ENST00000394155.2_Silent_p.P74P|FHL1_ENST00000539015.1_Silent_p.P103P|FHL1_ENST00000543669.1_Silent_p.P74P			Q13642	FHL1_HUMAN	four and a half LIM domains 1	74	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCACCCCTTGGCCAATG	0.572																																						ENST00000543669.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(220-222)ccC>ccA		four and a half LIM domains 1							135.0	114.0	121.0					X																	135289240		2203	4300	6503	SO:0001819	synonymous_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135289240C>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.222C>A	X.37:g.135289240C>A						FHL1_ENST00000370683.1_Silent_p.P90P|FHL1_ENST00000394153.2_Silent_p.P74P|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394155.2_Silent_p.P74P|FHL1_ENST00000370676.3_Silent_p.P90P|FHL1_ENST00000370690.3_Silent_p.P74P|FHL1_ENST00000345434.3_Silent_p.P74P|FHL1_ENST00000535737.1_Silent_p.P74P|FHL1_ENST00000539015.1_Silent_p.P103P	p.P74P	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN			3	933	+	Acute lymphoblastic leukemia(192;0.000127)		74			LIM zinc-binding 1.		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Silent	SNP	ENST00000345434.3	37	c.222C>A	CCDS55507.1																																																																																				0.572	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		4	192	1	0	1	1	1	4	192				
CDK8	1024	broad.mit.edu	37	13	26967560	26967560	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:26967560C>A	ENST00000381527.3	+	7	1206	c.703C>A	c.(703-705)Cac>Aac	p.H235N	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		ACCAATATTTCACTGTCGACA	0.343																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(703-705)Cac>Aac		cyclin-dependent kinase 8							172.0	163.0	166.0					13																	26967560		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26967560C>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.703C>A	13.37:g.26967560C>A	ENSP00000370938:p.His235Asn					CDK8_ENST00000536792.1_3'UTR	p.H235N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	7	1206	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	235			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.703C>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472454	0.84640	.	.	ENSG00000132964	ENST00000381527	T	0.64260	-0.09	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	N	0.05383	-0.06	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.974;0.985	T	0.65356	-0.6188	10	0.28530	T	0.3	-12.1181	19.3479	0.94372	0.0:1.0:0.0:0.0	.	235;235	P49336-2;P49336	.;CDK8_HUMAN	N	235	ENSP00000370938:H235N	ENSP00000370938:H235N	H	+	1	0	CDK8	25865560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.627000	0.88993	0.650000	0.86243	CAC		0.343	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			57	47	1	0	5.12918e-33	1	5.8563e-33	57	47				
ZNF81	347344	broad.mit.edu	37	X	47774931	47774931	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:47774931C>T	ENST00000376954.1	+	6	1254	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H296Y			P51508	ZNF81_HUMAN	zinc finger protein 81	296					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)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAAAAAATTCATACTGTGGA	0.358																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(886-888)Cat>Tat		zinc finger protein 81							47.0	41.0	43.0					X																	47774931		1833	4084	5917	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774931C>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.886C>T	X.37:g.47774931C>T	ENSP00000366153:p.His296Tyr					ZNF81_ENST00000338637.7_Missense_Mutation_p.H296Y	p.H296Y			P51508	ZNF81_HUMAN			6	1254	+		all_lung(315;0.0973)	296					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.886C>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	7.298	0.612405	0.14066	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.26518	1.73;1.73	4.11	3.24	0.37175	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001242	T	0.50752	0.1634	M	0.88512	2.96	0.29599	N	0.847858	D	0.71674	0.998	P	0.61940	0.896	T	0.56251	-0.8010	10	0.87932	D	0	.	10.5535	0.45103	0.1932:0.8068:0.0:0.0	.	296	P51508	ZNF81_HUMAN	Y	296	ENSP00000366153:H296Y;ENSP00000341151:H296Y	ENSP00000341151:H296Y	H	+	1	0	ZNF81	47659875	0.998000	0.40836	0.118000	0.21660	0.381000	0.30169	3.537000	0.53590	1.077000	0.40990	0.600000	0.82982	CAT		0.358	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		14	20	0	0	0	1	0	14	20				
APEH	327	broad.mit.edu	37	3	49723767	49723767	+	IGR	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:49723767G>C	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.T332R|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_Missense_Mutation_p.T257R|MST1_ENST00000545762.1_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTTTCTGGCGTAAATCGGTG	0.657																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(994-996)aCg>aGg		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	13.0	13.0					3																	49723767		2187	4269	6456	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723767G>C	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723767G>C						MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.T257R	p.T332R	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1356	-			318			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.995C>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	8.365	0.833959	0.16820	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.64085	-0.08;-0.08	5.67	-7.28	0.01456	Kringle (4);Kringle-like fold (1);	1.925480	0.02856	N	0.129683	T	0.55146	0.1902	M	0.65498	2.005	0.23802	N	0.996809	B;B	0.12013	0.005;0.001	B;B	0.20184	0.028;0.016	T	0.49661	-0.8916	10	0.62326	D	0.03	.	4.6548	0.12611	0.5992:0.0975:0.1081:0.1953	.	318;332	P26927;G3XAK1	HGFL_HUMAN;.	R	332;257	ENSP00000414287:T332R;ENSP00000373234:T257R	ENSP00000373234:T257R	T	-	2	0	MST1	49698771	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.812000	0.04496	-1.117000	0.02965	-0.812000	0.03155	ACG		0.657	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			6	20	0	0	0	1	0	6	20				
RSRC1	51319	broad.mit.edu	37	3	157841762	157841762	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:157841762C>G	ENST00000295930.3	+	3	464	c.302C>G	c.(301-303)tCa>tGa	p.S101*	RSRC1_ENST00000480820.1_Nonsense_Mutation_p.S101*|RSRC1_ENST00000464171.1_Nonsense_Mutation_p.S101*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.S101*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.S101*	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	101	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AGGTCTAGGTCAAAAAGCAGA	0.383																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(301-303)tCa>tGa		arginine/serine-rich coiled-coil 1							86.0	85.0	86.0					3																	157841762		2203	4300	6503	SO:0001587	stop_gained	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157841762C>G	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.302C>G	3.37:g.157841762C>G	ENSP00000295930:p.Ser101*					RSRC1_ENST00000480820.1_Nonsense_Mutation_p.S101*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.S101*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.S101*|RSRC1_ENST00000295930.3_Nonsense_Mutation_p.S101*	p.S101*	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		3	427	+			133			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	ENST00000295930.3	37	c.302C>G	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	38	6.704248	0.97776	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	4.86	4.86	0.63082	.	0.200151	0.33057	N	0.005321	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.3733	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	101	.	ENSP00000295930:S101X	S	+	2	0	RSRC1	159324456	1.000000	0.71417	0.990000	0.47175	0.902000	0.53008	5.967000	0.70403	2.393000	0.81446	0.591000	0.81541	TCA		0.383	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		31	74	0	0	0	1	0	31	74				
CACNG3	10368	broad.mit.edu	37	16	24358114	24358114	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:24358114C>G	ENST00000005284.3	+	2	1473	c.271C>G	c.(271-273)Cag>Gag	p.Q91E		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	91					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGACTACGAACAGGACACAGC	0.567																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(271-273)Cag>Gag		calcium channel, voltage-dependent, gamma subunit 3							87.0	78.0	81.0					16																	24358114		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358114C>G	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.271C>G	16.37:g.24358114C>G	ENSP00000005284:p.Gln91Glu						p.Q91E	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1473	+			91						Missense_Mutation	SNP	ENST00000005284.3	37	c.271C>G	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962272	0.34659	.	.	ENSG00000006116	ENST00000005284	D	0.90133	-2.62	5.61	5.61	0.85477	.	0.252628	0.39985	N	0.001205	D	0.88826	0.6542	L	0.43152	1.355	0.39047	D	0.960243	P	0.40578	0.722	P	0.45913	0.497	D	0.84901	0.0842	10	0.02654	T	1	-10.2069	19.6189	0.95647	0.0:1.0:0.0:0.0	.	91	O60359	CCG3_HUMAN	E	91	ENSP00000005284:Q91E	ENSP00000005284:Q91E	Q	+	1	0	CACNG3	24265615	0.810000	0.29049	1.000000	0.80357	0.813000	0.45954	1.466000	0.35310	2.808000	0.96608	0.655000	0.94253	CAG		0.567	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		8	37	0	0	0	1	0	8	37				
CDH1	999	broad.mit.edu	37	16	68857424	68857424	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:68857424G>C	ENST00000261769.5	+	13	2250	c.2059G>C	c.(2059-2061)Gac>Cac	p.D687H	CDH1_ENST00000422392.2_Missense_Mutation_p.D626H|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	687	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.E682fs*34(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGCGTGTGTGACTGTGAAGG	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		1	Deletion - Frameshift(1)	p.E682fs*34(1)	breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(2059-2061)Gac>Cac		cadherin 1, type 1, E-cadherin (epithelial)							120.0	120.0	120.0					16																	68857424		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68857424G>C	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2059G>C	16.37:g.68857424G>C	ENSP00000261769:p.Asp687His					CDH1_ENST00000422392.2_Missense_Mutation_p.D626H|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	p.D687H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	13	2250	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	687			Cadherin 5.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.2059G>C	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980924	0.53827	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.71579	-0.58;-0.58	6.04	6.04	0.98038	Cadherin (1);Cadherin-like (1);	0.000000	0.53938	D	0.000050	D	0.83229	0.5209	M	0.75884	2.315	0.58432	D	0.999999	D;D	0.69078	0.997;0.996	D;P	0.68765	0.96;0.833	D	0.84341	0.0527	10	0.87932	D	0	.	15.6522	0.77108	0.0:0.1366:0.8634:0.0	.	626;687	Q9UII8;P12830	.;CADH1_HUMAN	H	687;705;626	ENSP00000261769:D687H;ENSP00000414946:D626H	ENSP00000261769:D687H	D	+	1	0	CDH1	67414925	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	3.897000	0.56273	2.873000	0.98535	0.563000	0.77884	GAC		0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		19	120	0	0	0	1	0	19	120				
WDFY3	23001	broad.mit.edu	37	4	85758209	85758209	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:85758209G>T	ENST00000295888.4	-	7	856	c.449C>A	c.(448-450)cCt>cAt	p.P150H	WDFY3_ENST00000322366.6_Missense_Mutation_p.P150H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	150					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGGTGGAAGGCACTGACAT	0.413																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(448-450)cCt>cAt		WD repeat and FYVE domain containing 3							81.0	74.0	76.0					4																	85758209		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85758209G>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.449C>A	4.37:g.85758209G>T	ENSP00000295888:p.Pro150His					WDFY3_ENST00000295888.4_Missense_Mutation_p.P150H	p.P150H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	7	856	-		Hepatocellular(203;0.114)	150					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.449C>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960927	0.92791	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.28255	1.62;1.62	5.76	5.76	0.90799	.	0.051399	0.85682	D	0.000000	T	0.60534	0.2276	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.91635	0.786;0.999	T	0.62854	-0.6766	10	0.87932	D	0	.	19.9623	0.97256	0.0:0.0:1.0:0.0	.	150;150	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	H	150	ENSP00000318466:P150H;ENSP00000295888:P150H	ENSP00000295888:P150H	P	-	2	0	WDFY3	85977233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.675000	0.98638	2.713000	0.92767	0.455000	0.32223	CCT		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		13	17	1	0	1.5842e-08	1	1.67408e-08	13	17				
DDX59	83479	broad.mit.edu	37	1	200613413	200613413	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:200613413C>A	ENST00000331314.6	-	8	2042	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	610						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATCATGTTTTCTGATAATATC	0.308																																						ENST00000331314.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1828-1830)aGa>aTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							127.0	115.0	119.0					1																	200613413		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613413C>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1829G>T	1.37:g.200613413C>A	ENSP00000330460:p.Arg610Ile					DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	p.R610I	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN			8	2042	-			610					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1829G>T	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.759377|2.759377	0.49468|0.49468	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000429498|ENST00000367346;ENST00000331314	.|T	.|0.26223	.|1.75	5.61|5.61	3.41|3.41	0.39046|0.39046	.|.	.|0.266920	.|0.42821	.|D	.|0.000646	T|T	0.25232|0.25232	0.0613|0.0613	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|P	.|0.36577	.|0.558	.|B	.|0.39258	.|0.295	T|T	0.12192|0.12192	-1.0557|-1.0557	5|10	.|0.87932	.|D	.|0	-27.5061|-27.5061	12.706|12.706	0.57061|0.57061	0.0:0.794:0.0:0.206|0.0:0.794:0.0:0.206	.|.	.|610	.|Q5T1V6	.|DDX59_HUMAN	H|I	187|196;610	.|ENSP00000330460:R610I	.|ENSP00000330460:R610I	Q|R	-|-	3|2	2|0	DDX59|DDX59	198880036|198880036	0.691000|0.691000	0.27709|0.27709	0.968000|0.968000	0.41197|0.41197	0.996000|0.996000	0.88848|0.88848	0.301000|0.301000	0.19174|0.19174	1.370000|1.370000	0.46153|0.46153	0.643000|0.643000	0.83706|0.83706	CAG|AGA		0.308	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		13	36	1	0	2.27111e-07	1	2.3747e-07	13	36				
DST	667	broad.mit.edu	37	6	56494070	56494070	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:56494070C>T	ENST00000361203.3	-	28	3827	c.3820G>A	c.(3820-3822)Gtt>Att	p.V1274I	DST_ENST00000244364.6_Missense_Mutation_p.V948I|DST_ENST00000370765.6_Missense_Mutation_p.V948I|DST_ENST00000370754.5_Missense_Mutation_p.V1452I|DST_ENST00000370788.2_Missense_Mutation_p.V1274I|DST_ENST00000421834.2_Missense_Mutation_p.V1274I|DST_ENST00000370769.4_Missense_Mutation_p.V1274I|DST_ENST00000446842.2_Missense_Mutation_p.V948I|DST_ENST00000518935.1_Missense_Mutation_p.V948I|DST_ENST00000312431.6_Missense_Mutation_p.V1274I			Q03001	DYST_HUMAN	dystonin	1274					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCACATGAACATTTTGCCAC	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4354-4356)Gtt>Att		dystonin							273.0	225.0	242.0					6																	56494070		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56494070C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3820G>A	6.37:g.56494070C>T	ENSP00000354508:p.Val1274Ile					DST_ENST00000370765.6_Missense_Mutation_p.V948I|DST_ENST00000244364.6_Missense_Mutation_p.V948I|DST_ENST00000421834.2_Missense_Mutation_p.V1274I|DST_ENST00000312431.6_Missense_Mutation_p.V1274I|DST_ENST00000370769.4_Missense_Mutation_p.V1274I|DST_ENST00000446842.2_Missense_Mutation_p.V948I|DST_ENST00000518935.1_Missense_Mutation_p.V948I|DST_ENST00000370788.2_Missense_Mutation_p.V1274I|DST_ENST00000361203.3_Missense_Mutation_p.V1274I	p.V1452I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4353	-	Lung NSC(77;0.103)		1274					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4354G>A		.	.	.	.	.	.	.	.	.	.	C	11.48	1.651886	0.29336	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.85	3.05	0.35203	.	0.266665	0.26496	N	0.024041	T	0.06826	0.0174	N	0.04705	-0.18	0.24340	N	0.994967	B;B;B;B;B;B;B;B	0.26041	0.002;0.007;0.003;0.05;0.14;0.016;0.002;0.014	B;B;B;B;B;B;B;B	0.30105	0.002;0.004;0.002;0.032;0.111;0.045;0.002;0.045	T	0.28902	-1.0029	9	0.23302	T	0.38	.	9.2649	0.37634	0.0:0.6428:0.0:0.3572	.	1274;1274;1452;948;948;948;1274;948	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	I	948;1452;1274;1274;948;1274;1274;1274;948;1314;948;948	ENSP00000244364:V948I;ENSP00000359790:V1452I;ENSP00000359805:V1274I;ENSP00000400883:V1274I;ENSP00000393645:V948I;ENSP00000307959:V1274I;ENSP00000359824:V1274I;ENSP00000354508:V1274I;ENSP00000404924:V948I;ENSP00000431030:V1314I;ENSP00000359801:V948I;ENSP00000431003:V948I	ENSP00000244364:V948I	V	-	1	0	DST	56602029	0.999000	0.42202	0.981000	0.43875	0.967000	0.64934	0.784000	0.26816	0.351000	0.24027	-0.145000	0.13849	GTT		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		26	119	0	0	0	1	0	26	119				
FAM166A	401565	broad.mit.edu	37	9	140140219	140140219	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:140140219A>G	ENST00000344774.4	-	2	197	c.143T>C	c.(142-144)gTg>gCg	p.V48A	FAM166A_ENST00000388932.2_Missense_Mutation_p.V48A	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	48						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCTCTTCTGCACACTGGGGTC	0.612																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(142-144)gTg>gCg		family with sequence similarity 166, member A							51.0	54.0	53.0					9																	140140219		2202	4299	6501	SO:0001583	missense	401565							g.chr9:140140219A>G	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.143T>C	9.37:g.140140219A>G	ENSP00000344729:p.Val48Ala					FAM166A_ENST00000388932.2_Missense_Mutation_p.V48A	p.V48A	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			2	197	-			48					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.143T>C	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.472231	0.63737	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.47528	0.84;0.84;0.84	5.1	3.88	0.44766	.	0.332375	0.23635	N	0.046088	T	0.50257	0.1605	M	0.67397	2.05	0.09310	N	1	P	0.42078	0.77	P	0.45377	0.478	T	0.50092	-0.8868	10	0.66056	D	0.02	-18.9922	9.7823	0.40656	0.8457:0.0:0.0:0.1543	.	48	Q6J272	F166A_HUMAN	A	48	ENSP00000344729:V48A;ENSP00000373584:V48A;ENSP00000420741:V48A	ENSP00000344729:V48A	V	-	2	0	FAM166A	139260040	0.006000	0.16342	0.081000	0.20488	0.971000	0.66376	2.208000	0.42797	1.912000	0.55364	0.379000	0.24179	GTG		0.612	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		9	104	0	0	0	1	0	9	104				
EPHB6	2051	broad.mit.edu	37	7	142564266	142564266	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:142564266T>C	ENST00000392957.2	+	10	2277	c.1490T>C	c.(1489-1491)gTg>gCg	p.V497A	EPHB6_ENST00000411471.2_Missense_Mutation_p.V220A|EPHB6_ENST00000442129.1_Missense_Mutation_p.V497A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	497	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGCACCAGGTGAGCCGGGCA	0.587																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(1489-1491)gTg>gCg		EPH receptor B6							66.0	64.0	65.0					7																	142564266		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564266T>C	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1490T>C	7.37:g.142564266T>C	ENSP00000376684:p.Val497Ala					EPHB6_ENST00000411471.2_Missense_Mutation_p.V220A|EPHB6_ENST00000442129.1_Missense_Mutation_p.V497A	p.V497A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			10	2277	+	Melanoma(164;0.059)		497			Fibronectin type-III 2.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1490T>C	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926572	0.34002	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.56941	0.43;0.43;0.43	5.04	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000702	T	0.64983	0.2648	M	0.73217	2.22	0.35104	D	0.765521	D	0.71674	0.998	D	0.66716	0.946	T	0.69128	-0.5227	10	0.17369	T	0.5	.	10.6388	0.45582	0.0:0.0:0.3081:0.6919	.	497	O15197	EPHB6_HUMAN	A	497;497;220	ENSP00000376684:V497A;ENSP00000410789:V497A;ENSP00000409061:V220A	ENSP00000376684:V497A	V	+	2	0	EPHB6	142274388	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.457000	0.45005	0.848000	0.35191	0.454000	0.30748	GTG		0.587	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			24	65	0	0	0	1	0	24	65				
CYB5R3	1727	broad.mit.edu	37	22	43026970	43026970	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr22:43026970C>T	ENST00000352397.5	-	4	503	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	CYB5R3_ENST00000402438.1_Missense_Mutation_p.R61Q|CYB5R3_ENST00000361740.4_Missense_Mutation_p.R117Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R61Q|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R61Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R61Q	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	84	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TCCATCAATTCGAGCCGAGAG	0.587																																						ENST00000361740.4																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(349-351)cGa>cAa		cytochrome b5 reductase 3	NADH(DB00157)						118.0	97.0	104.0					22																	43026970		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43026970C>T	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.251G>A	22.37:g.43026970C>T	ENSP00000338461:p.Arg84Gln					CYB5R3_ENST00000352397.5_Missense_Mutation_p.R84Q|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R61Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R61Q|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R61Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R61Q	p.R117Q	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN			4	349	-			84		T -> S (in dbSNP:rs1800457).	FAD-binding FR-type.		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.350G>A	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611848	0.28712	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	3.73	0.507	0.16967	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.257317	0.35495	N	0.003177	T	0.75715	0.3887	L	0.42487	1.325	0.09310	N	1	B;B	0.25719	0.111;0.132	B;B	0.14578	0.011;0.011	T	0.64812	-0.6319	10	0.48119	T	0.1	-6.1245	8.6969	0.34301	0.0:0.7335:0.0:0.2665	.	117;84	B7Z7L3;P00387	.;NB5R3_HUMAN	Q	117;61;84;61;61;61;61	ENSP00000354468:R117Q;ENSP00000379597:R61Q;ENSP00000338461:R84Q;ENSP00000384834:R61Q;ENSP00000384457:R61Q;ENSP00000385679:R61Q;ENSP00000403439:R61Q	ENSP00000338461:R84Q	R	-	2	0	CYB5R3	41356914	0.739000	0.28196	0.001000	0.08648	0.613000	0.37349	2.646000	0.46630	0.202000	0.20498	-0.362000	0.07510	CGA		0.587	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			10	53	0	0	0	1	0	10	53				
MYOF	26509	broad.mit.edu	37	10	95089563	95089563	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:95089563G>C	ENST00000359263.4	-	44	4839	c.4840C>G	c.(4840-4842)Caa>Gaa	p.Q1614E	MYOF_ENST00000371501.4_Missense_Mutation_p.Q1614E|MYOF_ENST00000371502.4_Missense_Mutation_p.Q1633E|MYOF_ENST00000358334.5_Missense_Mutation_p.Q1601E|MYOF_ENST00000485212.1_5'Flank	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1614	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTTTTCTTGAGGTAAGTAG	0.393																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4840-4842)Caa>Gaa		myoferlin							139.0	131.0	134.0					10																	95089563		1851	4104	5955	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95089563G>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4840C>G	10.37:g.95089563G>C	ENSP00000352208:p.Gln1614Glu					MYOF_ENST00000371502.4_Missense_Mutation_p.Q1633E|MYOF_ENST00000359263.4_Missense_Mutation_p.Q1614E|MYOF_ENST00000358334.5_Missense_Mutation_p.Q1601E	p.Q1614E			Q9NZM1	MYOF_HUMAN			44	4962	-			1614			C2 5.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.4840C>G	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578351	0.86645	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.3	5.3	0.74995	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.234806	0.45361	D	0.000369	T	0.73869	0.3642	L	0.42632	1.34	0.80722	D	1	P;D	0.56968	0.891;0.978	P;P	0.57204	0.615;0.815	T	0.75808	-0.3187	10	0.72032	D	0.01	-4.1229	19.1392	0.93441	0.0:0.0:1.0:0.0	.	1601;1614	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	E	1601;1614;1614;1633	ENSP00000351094:Q1601E;ENSP00000352208:Q1614E;ENSP00000360556:Q1614E;ENSP00000360557:Q1633E	ENSP00000351094:Q1601E	Q	-	1	0	MYOF	95079553	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.222000	0.95196	2.765000	0.95021	0.555000	0.69702	CAA		0.393	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		51	65	0	0	0	1	0	51	65				
COL11A2	1302	broad.mit.edu	37	6	33135307	33135307	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:33135307C>A	ENST00000374708.4	-	54	4018	c.3760G>T	c.(3760-3762)Gat>Tat	p.D1254Y	COL11A2_ENST00000395197.1_Missense_Mutation_p.D1280Y|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1314Y|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1259Y|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1319Y|COL11A2_ENST00000341947.2_Missense_Mutation_p.D1340Y|COL11A2_ENST00000374713.1_Missense_Mutation_p.D1293Y|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1233Y|COL11A2_ENST00000477772.1_Intron	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1340	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCGCCAGGATCTCCCTGAAAC	0.652																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4018-4020)Gat>Tat		collagen, type XI, alpha 2							28.0	26.0	27.0					6																	33135307		1508	2708	4216	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135307C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3760G>T	6.37:g.33135307C>A	ENSP00000363840:p.Asp1254Tyr					COL11A2_ENST00000374708.4_Missense_Mutation_p.D1254Y|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1280Y|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1314Y|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1319Y|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1233Y|COL11A2_ENST00000374713.1_Missense_Mutation_p.D1293Y|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1259Y	p.D1340Y	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			56	4245	-			1340			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4018G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889607	0.33348	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.94417	-3.42;-3.4;-3.4;-3.4;-3.4;-3.42;-3.4;-3.4	4.09	4.09	0.47781	.	0.282844	0.32736	N	0.005712	D	0.94660	0.8278	M	0.79693	2.465	0.58432	D	0.999999	P;P;P	0.51791	0.946;0.946;0.948	P;P;B	0.50708	0.648;0.648;0.446	D	0.95284	0.8389	10	0.87932	D	0	.	13.9145	0.63887	0.0:1.0:0.0:0.0	.	1233;1254;1340	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	Y	1254;1340;1319;1314;1293;1280;1259;1233	ENSP00000363840:D1254Y;ENSP00000339915:D1340Y;ENSP00000350079:D1319Y;ENSP00000363846:D1314Y;ENSP00000363845:D1293Y;ENSP00000378623:D1280Y;ENSP00000363844:D1259Y;ENSP00000355123:D1233Y	ENSP00000339915:D1340Y	D	-	1	0	COL11A2	33243285	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	5.618000	0.67722	2.119000	0.64992	0.442000	0.29010	GAT		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			19	40	1	0	4.96729e-08	1	5.21216e-08	19	40				
WDR46	9277	broad.mit.edu	37	6	33247107	33247107	+	Silent	SNP	C	C	T	rs2475		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:33247107C>T	ENST00000374617.4	-	15	2135	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	593							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCTTGGCCTTCGCCTCCTTAT	0.632																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(1777-1779)gcG>gcA		WD repeat domain 46							90.0	96.0	94.0					6																	33247107		2203	4300	6503	SO:0001819	synonymous_variant	9277							g.chr6:33247107C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1779G>A	6.37:g.33247107C>T						B3GALT4_ENST00000606990.1_Intron	p.A593A	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN			15	2135	-			593					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Silent	SNP	ENST00000374617.4	37	c.1779G>A	CCDS4772.1																																																																																				0.632	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		92	131	0	0	0	1	0	92	131				
ZNF548	147694	broad.mit.edu	37	19	57905567	57905567	+	Intron	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:57905567G>A	ENST00000366197.5	+	2	265				AC003002.6_ENST00000600421.1_3'UTR|AC004076.7_ENST00000597410.1_Missense_Mutation_p.R6Q|ZNF548_ENST00000598895.1_Silent_p.A9A|ZNF548_ENST00000336128.7_Silent_p.A9A|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Silent_p.A9A|AC003002.6_ENST00000596400.1_Silent_p.A9A	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCCCCTGGCGATGGCAGAAA	0.537																																						ENST00000597410.1																			0											c.(16-18)cGa>cAa									29.0	26.0	27.0					19																	57905567		876	1991	2867	SO:0001627	intron_variant	147694							g.chr19:57905567G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.16-2849G>A	19.37:g.57905567G>A						ZNF548_ENST00000366197.5_Intron|AC003002.6_ENST00000596400.1_Silent_p.A9A|ZNF548_ENST00000336128.7_Silent_p.A9A|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000598895.1_Silent_p.A9A|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Silent_p.A9A	p.R6Q							1	17	+								Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.17G>A	CCDS46209.1																																																																																				0.537	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		6	13	0	0	0	1	0	6	13				
BTG3	10950	broad.mit.edu	37	21	18971140	18971140	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:18971140T>A	ENST00000348354.6	-	4	570	c.314A>T	c.(313-315)tAt>tTt	p.Y105F	BTG3_ENST00000339775.6_Missense_Mutation_p.Y149F	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	105					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCTCTCCATACCTAAGAAT	0.348																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(445-447)tAt>tTt		BTG family, member 3							53.0	51.0	52.0					21																	18971140		2203	4300	6503	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18971140T>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.314A>T	21.37:g.18971140T>A	ENSP00000284879:p.Tyr105Phe					BTG3_ENST00000348354.6_Missense_Mutation_p.Y105F	p.Y149F	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	5	599	-			105			Poly-Ser.		D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.446A>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917734	0.52546	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.06	5.06	0.68205	Anti-proliferative protein (4);	0.361597	0.29565	N	0.011782	T	0.35158	0.0922	N	0.20574	0.59	0.29932	N	0.821824	D;B	0.67145	0.996;0.288	P;B	0.59056	0.851;0.069	T	0.18903	-1.0322	9	0.33940	T	0.23	-17.1534	8.011	0.30353	0.0:0.0923:0.0:0.9077	.	149;105	Q14201-2;Q14201	.;BTG3_HUMAN	F	149;105	.	ENSP00000344609:Y149F	Y	-	2	0	BTG3	17893011	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	4.422000	0.59854	2.208000	0.71279	0.528000	0.53228	TAT		0.348	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		5	12	0	0	0	1	0	5	12				
KRTAP11-1	337880	broad.mit.edu	37	21	32253521	32253521	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:32253521G>C	ENST00000332378.4	-	1	353	c.323C>G	c.(322-324)tCt>tGt	p.S108C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	108						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S108C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACATCCACTAGAGACAAAGGT	0.562																																						ENST00000332378.4																			1	Substitution - Missense(1)	p.S108C(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(322-324)tCt>tGt		keratin associated protein 11-1							69.0	70.0	70.0					21																	32253521		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253521G>C	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.323C>G	21.37:g.32253521G>C	ENSP00000330720:p.Ser108Cys						p.S108C	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	353	-			108					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.323C>G	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851849	0.51270	.	.	ENSG00000182591	ENST00000332378	T	0.05199	3.48	5.4	5.4	0.78164	.	0.503338	0.20380	N	0.093477	T	0.29190	0.0726	M	0.85945	2.785	0.39020	D	0.959729	D	0.76494	0.999	D	0.67382	0.951	T	0.05146	-1.0903	10	0.87932	D	0	-11.8711	17.0969	0.86637	0.0:0.0:1.0:0.0	.	108	Q8IUC1	KR111_HUMAN	C	108	ENSP00000330720:S108C	ENSP00000330720:S108C	S	-	2	0	KRTAP11-1	31175392	0.999000	0.42202	0.993000	0.49108	0.369000	0.29798	2.865000	0.48412	2.722000	0.93159	0.650000	0.86243	TCT		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			23	56	0	0	0	1	0	23	56				
SLIT2	9353	broad.mit.edu	37	4	20597338	20597338	+	Silent	SNP	G	G	T	rs538291228	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:20597338G>T	ENST00000504154.1	+	31	3453	c.3201G>T	c.(3199-3201)ggG>ggT	p.G1067G	SLIT2_ENST00000503823.1_Silent_p.G1059G|SLIT2_ENST00000273739.5_Silent_p.G1080G|SLIT2_ENST00000503837.1_Silent_p.G1063G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1067	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACACCAGGGTACGTAGGTG	0.453													G|||	4	0.000798722	0.0	0.0	5008	,	,		18722	0.004		0.0	False		,,,				2504	0.0					ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3199-3201)ggG>ggT		slit homolog 2 (Drosophila)							221.0	205.0	211.0					4																	20597338		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20597338G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3201G>T	4.37:g.20597338G>T						SLIT2_ENST00000273739.5_Silent_p.G1080G|SLIT2_ENST00000503823.1_Silent_p.G1059G|SLIT2_ENST00000503837.1_Silent_p.G1063G	p.G1067G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			31	3453	+			1067			EGF-like 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3201G>T	CCDS3426.1																																																																																				0.453	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			110	78	1	0	7.18566e-60	1	8.33201e-60	110	78				
GLI3	2737	broad.mit.edu	37	7	42004440	42004440	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:42004440C>T	ENST00000395925.3	-	15	4315	c.4231G>A	c.(4231-4233)Gac>Aac	p.D1411N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1411					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGACTTGTGTCACTGAGCTGT	0.567									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(4231-4233)Gac>Aac		GLI family zinc finger 3							73.0	75.0	75.0					7																	42004440		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004440C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4231G>A	7.37:g.42004440C>T	ENSP00000379258:p.Asp1411Asn					GLI3_ENST00000479210.1_5'UTR	p.D1411N	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	4315	-			1411					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.4231G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230627	0.79688	.	.	ENSG00000106571	ENST00000395925	T	0.13196	2.61	5.51	5.51	0.81932	.	0.313646	0.38436	N	0.001693	T	0.15522	0.0374	N	0.22421	0.69	0.80722	D	1	P	0.47762	0.9	P	0.48400	0.576	T	0.08330	-1.0727	10	0.16420	T	0.52	.	19.4277	0.94751	0.0:1.0:0.0:0.0	.	1411	P10071	GLI3_HUMAN	N	1411	ENSP00000379258:D1411N	ENSP00000379258:D1411N	D	-	1	0	GLI3	41970965	0.967000	0.33354	0.816000	0.32577	0.874000	0.50279	2.815000	0.48018	2.568000	0.86640	0.655000	0.94253	GAC		0.567	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		36	120	0	0	0	1	0	36	120				
GGTLC1	92086	broad.mit.edu	37	20	23966576	23966576	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:23966576T>C	ENST00000335694.4	-	4	544	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M114V|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M114V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	114					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TGGCCCACCATGATCGTCGGG	0.662																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(340-342)Atg>Gtg		gamma-glutamyltransferase light chain 1							73.0	84.0	80.0					20																	23966576		1511	2706	4217	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966576T>C	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.340A>G	20.37:g.23966576T>C	ENSP00000337587:p.Met114Val					GGTLC1_ENST00000286890.4_Missense_Mutation_p.M114V|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M114V	p.M114V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			4	544	-			114					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.340A>G	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.861034	0.00552	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.03635	3.86;3.86;3.86	0.844	-1.69	0.08186	.	0.431019	0.23404	N	0.048541	T	0.00552	0.0018	N	0.00055	-2.375	0.20873	N	0.999834	B	0.02656	0.0	B	0.01281	0.0	T	0.46582	-0.9181	10	0.02654	T	1	-8.8903	4.0832	0.09935	0.0:1.0E-4:0.3498:0.6501	.	114	Q9BX51	GGTL1_HUMAN	V	114	ENSP00000286890:M114V;ENSP00000278765:M114V;ENSP00000337587:M114V	ENSP00000278765:M114V	M	-	1	0	GGTLC1	23914576	0.984000	0.35163	0.077000	0.20336	0.112000	0.19704	0.105000	0.15333	0.077000	0.16863	0.076000	0.15429	ATG		0.662	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		31	189	0	0	0	1	0	31	189				
DMD	1756	broad.mit.edu	37	X	32305785	32305785	+	Silent	SNP	G	G	T	rs140791274	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:32305785G>T	ENST00000357033.4	-	43	6357	c.6151C>A	c.(6151-6153)Cgg>Agg	p.R2051R	DMD_ENST00000378677.2_Silent_p.R2047R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2051					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R2047W(1)|p.R2046W(1)|p.R2051W(1)|p.R710W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTCAATCCGACCTGAGCTT	0.348																																						ENST00000357033.4																			4	Substitution - Missense(4)	p.R2047W(1)|p.R2046W(1)|p.R2051W(1)|p.R710W(1)	lung(4)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6151-6153)Cgg>Agg		dystrophin							82.0	63.0	70.0					X																	32305785		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32305785G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6151C>A	X.37:g.32305785G>T						DMD_ENST00000378677.2_Silent_p.R2047R	p.R2051R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			43	6357	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2051					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6151C>A	CCDS14233.1																																																																																				0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	13	1	0	0.00116845	1	0.00120068	6	13				
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ctgctgctgctgcAGCCCCAG	0.552																																						ENST00000496593.1																			0																																																			113157							g.chr11:61405030T>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405030T>A								NR_002775.2						0	1634	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		3	34	0	0	0	1	0	3	34				
LCE3E	353145	broad.mit.edu	37	1	152538502	152538502	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:152538502G>T	ENST00000368789.1	-	2	238	c.183C>A	c.(181-183)caC>caA	p.H61Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	61					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GCCGGCATCGGTGGTGGCGCC	0.677																																						ENST00000368789.1																			0				lung(6)|ovary(1)	7						c.(181-183)caC>caA		late cornified envelope 3E							44.0	54.0	51.0					1																	152538502		2203	4299	6502	SO:0001583	missense	353145				keratinization			g.chr1:152538502G>T		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"""Late cornified envelopes"""	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.183C>A	1.37:g.152538502G>T	ENSP00000357778:p.His61Gln						p.H61Q	NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	238	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		61					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.183C>A	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	g	0.884	-0.727852	0.03158	.	.	ENSG00000185966	ENST00000368789	T	0.03920	3.76	3.69	1.79	0.24919	.	.	.	.	.	T	0.07279	0.0184	.	.	.	0.27845	N	0.940961	D	0.76494	0.999	D	0.78314	0.991	T	0.14868	-1.0457	8	0.87932	D	0	.	5.9574	0.19281	0.2465:0.0:0.7535:0.0	.	61	Q5T5B0	LCE3E_HUMAN	Q	61	ENSP00000357778:H61Q	ENSP00000357778:H61Q	H	-	3	2	LCE3E	150805126	0.011000	0.17503	0.481000	0.27354	0.012000	0.07955	-0.007000	0.12810	0.349000	0.23975	-0.366000	0.07423	CAC		0.677	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		4	162	1	0	0.150653	1	0.152703	4	162				
EIF4B	1975	broad.mit.edu	37	12	53421933	53421933	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:53421933G>C	ENST00000262056.9	+	8	1266	c.940G>C	c.(940-942)Gat>Cat	p.D314H	EIF4B_ENST00000420463.3_Missense_Mutation_p.D314H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D275H|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	314	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GAGCTCCAGAGATGATTACTC	0.468																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(940-942)Gat>Cat		eukaryotic translation initiation factor 4B							59.0	62.0	61.0					12																	53421933		1901	4119	6020	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53421933G>C	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.940G>C	12.37:g.53421933G>C	ENSP00000262056:p.Asp314His					RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D314H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D275H	p.D314H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			8	1266	+			314			Arg-rich.|Asp-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.940G>C	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835222	0.50951	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T	0.54279	0.81;0.81;0.78;0.58	4.66	4.66	0.58398	.	0.065958	0.56097	D	0.000031	T	0.59865	0.2225	L	0.59436	1.845	0.35934	D	0.832727	P;P;D;P	0.59357	0.949;0.917;0.985;0.789	P;P;P;P	0.55055	0.698;0.502;0.767;0.502	T	0.69658	-0.5086	10	0.59425	D	0.04	.	10.6858	0.45841	0.0914:0.0:0.9086:0.0	.	275;314;290;314	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	H	314;314;290;275;269;268	ENSP00000262056:D314H;ENSP00000388806:D314H;ENSP00000449746:D269H;ENSP00000450324:D268H	ENSP00000262056:D314H	D	+	1	0	EIF4B	51708200	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.659000	0.54489	2.512000	0.84698	0.655000	0.94253	GAT		0.468	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		25	88	0	0	0	1	0	25	88				
ZNF544	27300	broad.mit.edu	37	19	58762729	58762729	+	Intron	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:58762729C>T	ENST00000596652.1	+	5	478				ZNF544_ENST00000269829.4_Intron|ZNF544_ENST00000596825.1_Intron|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000594384.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000333581.5_Silent_p.F100F|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599227.1_Intron|ZNF544_ENST00000599953.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544						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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		gcttcaggttcccggtctggg	0.448																																						ENST00000333581.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(298-300)ttC>ttT		zinc finger protein 544							65.0	61.0	62.0					19																	58762729		876	1991	2867	SO:0001627	intron_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58762729C>T	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.244+4569C>T	19.37:g.58762729C>T						ZNF544_ENST00000596825.1_Intron|ZNF544_ENST00000269829.4_Intron|ZNF544_ENST00000599953.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000594384.1_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_Intron	p.F100F			Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	534	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	0					A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	c.300C>T	CCDS12973.1																																																																																				0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		14	62	0	0	0	1	0	14	62				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	129	0	0	0	1	0	5	129				
TRRAP	8295	broad.mit.edu	37	7	98591296	98591296	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:98591296T>C	ENST00000359863.4	+	65	10150	c.9941T>C	c.(9940-9942)cTt>cCt	p.L3314P	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3303P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3285P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3314					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CACCCCACCCTTCTGTCTTCC	0.542																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9940-9942)cTt>cCt		transformation/transcription domain-associated protein							197.0	162.0	174.0					7																	98591296		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98591296T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9941T>C	7.37:g.98591296T>C	ENSP00000352925:p.Leu3314Pro					TRRAP_ENST00000446306.3_Missense_Mutation_p.L3303P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3285P	p.L3314P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		65	10150	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3314					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9941T>C	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.074199|4.074199	0.76415|0.76415	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03330	.|3.97;3.97	5.42|5.42	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.14141|0.14141	0.0342|0.0342	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.993;0.997	.|D;P;P	.|0.69654	.|0.965;0.77;0.862	T|T	0.00783|0.00783	-1.1568|-1.1568	5|10	.|0.39692	.|T	.|0.17	.|.	11.3911|11.3911	0.49815|0.49815	0.0:0.0714:0.0:0.9286|0.0:0.0714:0.0:0.9286	.|.	.|3285;3042;3314	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	L|P	3043|3314;3285;3302	.|ENSP00000352925:L3314P;ENSP00000347733:L3285P	.|ENSP00000347733:L3285P	F|L	+|+	1|2	0|0	TRRAP|TRRAP	98429232|98429232	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.997000|0.997000	0.91878|0.91878	7.956000|7.956000	0.87863|0.87863	0.988000|0.988000	0.38734|0.38734	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.542	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		16	94	0	0	0	1	0	16	94				
GPR150	285601	broad.mit.edu	37	5	94956164	94956164	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:94956164C>T	ENST00000380007.2	+	1	383	c.185C>T	c.(184-186)aCa>aTa	p.T62I		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGCAACACCACAGTGCTGTGC	0.726																																						ENST00000380007.2																			0				lung(2)	2						c.(184-186)aCa>aTa		G protein-coupled receptor 150							8.0	11.0	10.0					5																	94956164		2129	4210	6339	SO:0001583	missense	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956164C>T	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.185C>T	5.37:g.94956164C>T	ENSP00000369344:p.Thr62Ile						p.T62I	NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	1	383	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	62						Missense_Mutation	SNP	ENST00000380007.2	37	c.185C>T	CCDS4074.1	.	.	.	.	.	.	.	.	.	.	C	6.126	0.391413	0.11581	.	.	ENSG00000178015	ENST00000380007	T	0.35973	1.28	4.08	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.446692	0.18394	N	0.142563	T	0.20577	0.0495	L	0.34521	1.04	0.09310	N	1	B	0.34181	0.44	B	0.32090	0.14	T	0.10636	-1.0621	10	0.33141	T	0.24	-16.195	3.0955	0.06308	0.1869:0.4257:0.0:0.3874	.	62	Q8NGU9	GP150_HUMAN	I	62	ENSP00000369344:T62I	ENSP00000369344:T62I	T	+	2	0	GPR150	94981920	0.000000	0.05858	0.218000	0.23776	0.255000	0.26057	0.133000	0.15912	0.063000	0.16370	0.456000	0.33151	ACA		0.726	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			12	5	0	0	0	1	0	12	5				
SETD1A	9739	broad.mit.edu	37	16	30974808	30974808	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:30974808A>G	ENST00000262519.8	+	5	1258	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	191					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TACACCCCTCAGACTGTGCCC	0.527																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(571-573)cAg>cGg		SET domain containing 1A							149.0	145.0	146.0					16																	30974808		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30974808A>G	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.572A>G	16.37:g.30974808A>G	ENSP00000262519:p.Gln191Arg						p.Q191R	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			5	1258	+			191					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.572A>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966580	0.53507	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	D	0.94758	-3.51	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	L	0.43152	1.355	0.50813	D	0.999893	B	0.27416	0.178	B	0.27076	0.076	D	0.89165	0.3533	10	0.36615	T	0.2	.	15.3623	0.74487	1.0:0.0:0.0:0.0	.	191	O15047	SET1A_HUMAN	R	191	ENSP00000262519:Q191R	ENSP00000262519:Q191R	Q	+	2	0	SETD1A	30882309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.245000	0.65405	2.271000	0.75665	0.533000	0.62120	CAG		0.527	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		75	45	0	0	0	1	0	75	45				
SUPT6H	6830	broad.mit.edu	37	17	27003266	27003266	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:27003266G>C	ENST00000314616.6	+	7	998	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E239Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	239	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACTGGAGGAAGAGTATGAGTA	0.473																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(715-717)Gag>Cag		suppressor of Ty 6 homolog (S. cerevisiae)							130.0	130.0	130.0					17																	27003266		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27003266G>C	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.715G>C	17.37:g.27003266G>C	ENSP00000319104:p.Glu239Gln					SUPT6H_ENST00000347486.4_Missense_Mutation_p.E239Q	p.E239Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			7	998	+	Lung NSC(42;0.00431)		239			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.715G>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575864	0.86645	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.58	5.58	0.84498	.	0.160857	0.53938	D	0.000054	T	0.70456	0.3226	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.64694	-0.6347	9	0.23302	T	0.38	-17.5106	19.5589	0.95364	0.0:0.0:1.0:0.0	.	239	Q7KZ85	SPT6H_HUMAN	Q	239	.	ENSP00000319104:E239Q	E	+	1	0	SUPT6H	24027393	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.625000	0.88918	0.655000	0.94253	GAG		0.473	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		35	137	0	0	0	1	0	35	137				
CACNG5	27091	broad.mit.edu	37	17	64881325	64881325	+	Missense_Mutation	SNP	G	G	A	rs563780871		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:64881325G>A	ENST00000533854.1	+	6	1033	c.796G>A	c.(796-798)Gac>Aac	p.D266N	CACNG5_ENST00000307139.3_Missense_Mutation_p.D266N			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	266				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAAGTGCCCCGACTATGATCA	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18067	0.0		0.0	False		,,,				2504	0.0					ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(796-798)Gac>Aac		calcium channel, voltage-dependent, gamma subunit 5							67.0	56.0	60.0					17																	64881325		2203	4299	6502	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881325G>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.796G>A	17.37:g.64881325G>A	ENSP00000436836:p.Asp266Asn					CACNG5_ENST00000307139.3_Missense_Mutation_p.D266N	p.D266N			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		6	1033	+			266	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.796G>A	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880396	0.51801	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.46063	0.88;0.88	3.27	2.28	0.28536	.	.	.	.	.	T	0.24890	0.0604	N	0.19112	0.55	0.80722	D	1	B	0.31519	0.327	B	0.21917	0.037	T	0.07693	-1.0759	9	0.38643	T	0.18	.	11.6296	0.51166	0.0:0.0:0.8202:0.1798	.	266	Q9UF02	CCG5_HUMAN	N	266	ENSP00000436836:D266N;ENSP00000303092:D266N	ENSP00000303092:D266N	D	+	1	0	CACNG5	62311787	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	8.960000	0.93117	0.941000	0.37499	-0.251000	0.11542	GAC		0.642	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		25	83	0	0	0	1	0	25	83				
FMO3	2328	broad.mit.edu	37	1	171083484	171083484	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:171083484G>A	ENST00000367755.4	+	7	1276	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	FMO3_ENST00000392085.2_Missense_Mutation_p.A389T|FMO3_ENST00000542847.1_Missense_Mutation_p.A369T|FMO3_ENST00000538429.1_Missense_Mutation_p.A326T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	389					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GTCCCGCTGGGCAGCACAAGT	0.453																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1165-1167)Gca>Aca		flavin containing monooxygenase 3							36.0	39.0	38.0					1																	171083484		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083484G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1165G>A	1.37:g.171083484G>A	ENSP00000356729:p.Ala389Thr					FMO3_ENST00000538429.1_Missense_Mutation_p.A326T|FMO3_ENST00000542847.1_Missense_Mutation_p.A369T|FMO3_ENST00000392085.2_Missense_Mutation_p.A389T	p.A389T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			7	1276	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		389					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1165G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669257	0.88348	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.92	4.92	0.64577	.	0.048135	0.85682	D	0.000000	T	0.72028	0.3410	M	0.88031	2.925	0.80722	D	1	D;P;B	0.57257	0.979;0.659;0.31	P;P;P	0.56563	0.801;0.477;0.517	T	0.78553	-0.2160	10	0.62326	D	0.03	-14.4649	18.0978	0.89496	0.0:0.0:1.0:0.0	.	326;369;389	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	T	389;389;369;326	ENSP00000356729:A389T;ENSP00000375935:A389T;ENSP00000444073:A369T;ENSP00000439500:A326T	ENSP00000356729:A389T	A	+	1	0	FMO3	169350108	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.116000	0.64661	2.409000	0.81822	0.650000	0.86243	GCA		0.453	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		7	36	0	0	0	1	0	7	36				
ANKRD30A	91074	broad.mit.edu	37	10	37430711	37430711	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:37430711G>A	ENST00000602533.1	+	7	817	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E240K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E240K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	296					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGACACAGCTGAAAGCTTGGT	0.493																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(718-720)Gaa>Aaa		ankyrin repeat domain 30A							40.0	42.0	41.0					10																	37430711		1874	4098	5972	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430711G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.718G>A	10.37:g.37430711G>A	ENSP00000473551:p.Glu240Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E240K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E240K	p.E240K			Q9BXX3	AN30A_HUMAN			7	817	+			296					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	.	3.383	-0.126005	0.06795	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05081	3.5;3.5	0.566	0.566	0.17317	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	P	0.52842	0.956	D	0.65010	0.931	T	0.41233	-0.9520	8	0.44086	T	0.13	.	.	.	.	.	296	Q9BXX3	AN30A_HUMAN	K	240	ENSP00000354432:E240K;ENSP00000363792:E240K	ENSP00000354432:E240K	E	+	1	0	ANKRD30A	37470717	0.978000	0.34361	0.002000	0.10522	0.004000	0.04260	1.404000	0.34623	0.581000	0.29539	0.297000	0.19635	GAA		0.493	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		13	19	0	0	0	1	0	13	19				
USP9X	8239	broad.mit.edu	37	X	41007694	41007694	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:41007694G>A	ENST00000324545.8	+	12	2125	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	USP9X_ENST00000378308.2_Missense_Mutation_p.D498N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	498					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCAGAAGATGATAAAGATGG	0.433																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1492-1494)Gat>Aat		ubiquitin specific peptidase 9, X-linked							213.0	184.0	194.0					X																	41007694		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41007694G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1492G>A	X.37:g.41007694G>A	ENSP00000316357:p.Asp498Asn					USP9X_ENST00000378308.2_Missense_Mutation_p.D498N	p.D498N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			12	2125	+			498					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.1492G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190052	0.94923	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.65916	-0.18;-0.18	5.49	5.49	0.81192	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.80746	2.51	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.68039	0.955;0.904	T	0.79448	-0.1799	10	0.37606	T	0.19	.	18.4616	0.90739	0.0:0.0:1.0:0.0	.	498;498	Q93008-1;Q93008	.;USP9X_HUMAN	N	498	ENSP00000367558:D498N;ENSP00000316357:D498N	ENSP00000316357:D498N	D	+	1	0	USP9X	40892638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.298000	0.96132	2.301000	0.77427	0.538000	0.68166	GAT		0.433	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		32	40	0	0	0	1	0	32	40				
C6orf211	79624	broad.mit.edu	37	6	151785665	151785665	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:151785665C>G	ENST00000367294.3	+	4	729	c.470C>G	c.(469-471)gCt>gGt	p.A157G	C6orf211_ENST00000545879.1_Missense_Mutation_p.A38G|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	157										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCCATCATTGCTTTATGTACT	0.333																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(469-471)gCt>gGt		chromosome 6 open reading frame 211							81.0	78.0	79.0					6																	151785665		2202	4298	6500	SO:0001583	missense	79624						protein binding	g.chr6:151785665C>G	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.470C>G	6.37:g.151785665C>G	ENSP00000356263:p.Ala157Gly					C6orf211_ENST00000545879.1_Missense_Mutation_p.A38G|C6orf211_ENST00000483931.1_3'UTR	p.A157G	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	729	+			157					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.470C>G	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851944	0.32699	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.07567	3.18;3.18	5.64	2.8	0.32819	Domain of unknown function DUF89 (2);	0.396040	0.27668	N	0.018359	T	0.06554	0.0168	M	0.88241	2.94	0.09310	N	1	B	0.34399	0.452	B	0.39971	0.315	T	0.26950	-1.0088	10	0.25106	T	0.35	.	7.3677	0.26783	0.0:0.6759:0.1217:0.2024	.	157	Q9H993	CF211_HUMAN	G	157;38	ENSP00000356263:A157G;ENSP00000444121:A38G	ENSP00000356263:A157G	A	+	2	0	C6orf211	151827358	0.004000	0.15560	0.001000	0.08648	0.418000	0.31294	2.129000	0.42055	0.689000	0.31550	0.650000	0.86243	GCT		0.333	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		6	18	0	0	0	1	0	6	18				
ZNF248	57209	broad.mit.edu	37	10	38121537	38121537	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:38121537C>G	ENST00000395867.3	-	6	1296	c.746G>C	c.(745-747)aGa>aCa	p.R249T	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R249T|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	249					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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AATGAAGGTTCTTCCACATTC	0.373																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(745-747)aGa>aCa		zinc finger protein 248							75.0	73.0	74.0					10																	38121537		2203	4299	6502	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121537C>G	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.746G>C	10.37:g.38121537C>G	ENSP00000379208:p.Arg249Thr					ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R249T	p.R249T	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN			6	1296	-			249					Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.746G>C	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873485	0.51695	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.15718	2.4;2.4	4.86	2.99	0.34606	Zinc finger, C2H2 (1);	0.250963	0.28889	N	0.013804	T	0.13756	0.0333	L	0.55213	1.73	0.35035	D	0.759134	P	0.35433	0.501	B	0.29785	0.107	T	0.18713	-1.0328	10	0.87932	D	0	.	5.9376	0.19175	0.0:0.71:0.0:0.29	.	249	Q8NDW4	ZN248_HUMAN	T	249	ENSP00000379208:R249T;ENSP00000349882:R249T	ENSP00000349882:R249T	R	-	2	0	ZNF248	38161543	0.059000	0.20769	0.999000	0.59377	0.986000	0.74619	0.961000	0.29267	1.403000	0.46800	0.563000	0.77884	AGA		0.373	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		7	23	0	0	0	1	0	7	23				
AKAP9	10142	broad.mit.edu	37	7	91735020	91735020	+	Nonsense_Mutation	SNP	C	C	T	rs183257184		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:91735020C>T	ENST00000359028.2	+	47	11596	c.11371C>T	c.(11371-11373)Cga>Tga	p.R3791*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3737*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3787*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3791					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGGTGGCATCGAGTCACAGG	0.333			T	BRAF	papillary thyroid								C|||	1	0.000199681	0.0	0.0	5008	,	,		20977	0.0		0.001	False		,,,				2504	0.0					ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11371-11373)Cga>Tga		A kinase (PRKA) anchor protein 9							141.0	138.0	139.0					7																	91735020		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91735020C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11371C>T	7.37:g.91735020C>T	ENSP00000351922:p.Arg3791*					AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3787*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3737*	p.R3791*			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		47	11596	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3791					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.11371C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	54	22.378536	0.99947	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.55	5.55	0.83447	.	0.278967	0.19465	N	0.113618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4482	0.75248	0.147:0.853:0.0:0.0	.	.	.	.	X	3787;3791;3737;3791;1633	.	ENSP00000348573:R3787X	R	+	1	2	AKAP9	91572956	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.025000	0.49681	2.894000	0.99253	0.591000	0.81541	CGA		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		31	45	0	0	0	1	0	31	45				
C1QTNF9	338872	broad.mit.edu	37	13	24890210	24890210	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:24890210C>T	ENST00000382071.2	+	2	154	c.69C>T	c.(67-69)tgC>tgT	p.C23C	C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Silent_p.C23C			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	23						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AGGACACCTGCAGGCAAGGGC	0.542																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(67-69)tgC>tgT		C1q and tumor necrosis factor related protein 9							86.0	81.0	83.0					13																	24890210		2202	4280	6482	SO:0001819	synonymous_variant	338872					collagen	hormone activity	g.chr13:24890210C>T	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.69C>T	13.37:g.24890210C>T						C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.C23C	p.C23C			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	2	154	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	23					A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	c.69C>T	CCDS9306.1																																																																																				0.542	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		23	30	0	0	0	1	0	23	30				
ZNF665	79788	broad.mit.edu	37	19	53669336	53669336	+	Missense_Mutation	SNP	T	T	C	rs374207298		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:53669336T>C	ENST00000600412.1	-	2	327	c.212A>G	c.(211-213)cAt>cGt	p.H71R	ZNF665_ENST00000396424.3_Missense_Mutation_p.H136R|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	71					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTTTCAATATGCCTGTTTCC	0.373																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(211-213)cAt>cGt		zinc finger protein 665		T	ARG/HIS	1,4271		0,1,2135	120.0	126.0	124.0		407	-4.0	0.0	19		124	0,8550		0,0,4275	no	missense	ZNF665	NM_024733.3	29	0,1,6410	CC,CT,TT		0.0,0.0234,0.0078	benign	136/679	53669336	1,12821	2136	4275	6411	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669336T>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.212A>G	19.37:g.53669336T>C	ENSP00000469154:p.His71Arg					ZNF665_ENST00000396424.3_Missense_Mutation_p.H136R	p.H71R			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	327	-			71					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.212A>G		.	.	.	.	.	.	.	.	.	.	T	0.035	-1.311492	0.01342	2.34E-4	0.0	ENSG00000197497	ENST00000396424	T	0.06933	3.24	2.01	-4.01	0.04045	.	.	.	.	.	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B	0.26483	0.15	B	0.28709	0.093	T	0.27297	-1.0078	9	0.25751	T	0.34	.	5.9544	0.19265	0.146:0.0:0.2966:0.5573	.	136	Q9H7R5-2	.	R	136	ENSP00000379702:H136R	ENSP00000379702:H136R	H	-	2	0	ZNF665	58361148	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.132000	0.00148	-3.506000	0.00150	-0.438000	0.05819	CAT		0.373	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		55	31	0	0	0	1	0	55	31				
ANK3	288	broad.mit.edu	37	10	61834668	61834668	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:61834668C>G	ENST00000280772.2	-	37	6162	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1991					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACTAAATTCTATCCAGTCA	0.443																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5971-5973)Gaa>Caa		ankyrin 3, node of Ranvier (ankyrin G)							71.0	72.0	71.0					10																	61834668		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834668C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5971G>C	10.37:g.61834668C>G	ENSP00000280772:p.Glu1991Gln					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.E1991Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6162	-			1991					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5971G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829103	0.50845	.	.	ENSG00000151150	ENST00000280772	T	0.58210	0.35	5.93	5.93	0.95920	.	0.000000	0.42964	D	0.000639	T	0.56819	0.2011	L	0.59436	1.845	0.80722	D	1	D	0.55385	0.971	P	0.45343	0.477	T	0.53528	-0.8426	10	0.32370	T	0.25	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	1991	Q12955	ANK3_HUMAN	Q	1991	ENSP00000280772:E1991Q	ENSP00000280772:E1991Q	E	-	1	0	ANK3	61504674	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	5.667000	0.68067	2.814000	0.96858	0.655000	0.94253	GAA		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	43	0	0	0	1	0	10	43				
WDR60	55112	broad.mit.edu	37	7	158726893	158726893	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:158726893A>G	ENST00000407559.3	+	22	2778	c.2620A>G	c.(2620-2622)Aat>Gat	p.N874D		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	874					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTCAGATCCTAATCACTTTAT	0.313																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2620-2622)Aat>Gat		WD repeat domain 60							115.0	108.0	110.0					7																	158726893		1842	4086	5928	SO:0001583	missense	55112							g.chr7:158726893A>G		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2620A>G	7.37:g.158726893A>G	ENSP00000384290:p.Asn874Asp						p.N874D	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	22	2778	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	874					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2620A>G	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902427	0.52227	.	.	ENSG00000126870	ENST00000407559	T	0.66638	-0.22	5.47	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.214174	0.47852	D	0.000210	T	0.66187	0.2764	M	0.66939	2.045	0.38163	D	0.939107	P;P	0.52577	0.954;0.862	P;B	0.47470	0.548;0.33	T	0.66964	-0.5790	10	0.51188	T	0.08	-22.0101	8.1186	0.30957	0.8422:0.0:0.1578:0.0	.	357;874	A4D230;Q8WVS4	.;WDR60_HUMAN	D	874	ENSP00000384290:N874D	ENSP00000384290:N874D	N	+	1	0	WDR60	158419654	0.998000	0.40836	0.624000	0.29186	0.891000	0.51852	2.851000	0.48302	0.381000	0.24851	0.528000	0.53228	AAT		0.313	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		7	22	0	0	0	1	0	7	22				
ZNF761	388561	broad.mit.edu	37	19	53958684	53958684	+	RNA	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:53958684A>G	ENST00000454407.1	+	0	1376							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCATTTCAAATCA	0.388																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							91.0	92.0	92.0					19																	53958684		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958684A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958684A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1376	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		4	112	0	0	0	1	0	4	112				
FLII	2314	broad.mit.edu	37	17	18156627	18156627	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:18156627T>C	ENST00000327031.4	-	9	1226	c.1001A>G	c.(1000-1002)gAa>gGa	p.E334G	FLII_ENST00000545457.2_Missense_Mutation_p.E280G|FLII_ENST00000379450.4_Missense_Mutation_p.E249G|FLII_ENST00000578558.1_Missense_Mutation_p.E334G|FLII_ENST00000579294.1_Missense_Mutation_p.E323G|FLII_ENST00000584444.1_5'Flank	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	334	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCAGAGACTTTCAGGGACCAG	0.587																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1000-1002)gAa>gGa		flightless I homolog (Drosophila)							50.0	48.0	48.0					17																	18156627		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18156627T>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1001A>G	17.37:g.18156627T>C	ENSP00000324573:p.Glu334Gly					FLII_ENST00000545457.2_Missense_Mutation_p.E280G|FLII_ENST00000579294.1_Missense_Mutation_p.E323G|FLII_ENST00000578558.1_Missense_Mutation_p.E334G|FLII_ENST00000379450.4_Missense_Mutation_p.E249G	p.E334G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			9	1226	-	all_neural(463;0.228)		334			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.1001A>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964647	0.74131	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.39056	1.82;1.1;1.82	5.78	5.78	0.91487	.	0.112649	0.64402	D	0.000004	T	0.56992	0.2023	L	0.41027	1.25	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.994;0.994;0.97;0.98;0.99	T	0.59710	-0.7403	10	0.87932	D	0	-26.1253	16.1063	0.81225	0.0:0.0:0.0:1.0	.	249;249;334;334;303	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	G	334;334;249	ENSP00000324573:E334G;ENSP00000438536:E334G;ENSP00000368763:E249G	ENSP00000324573:E334G	E	-	2	0	FLII	18097352	1.000000	0.71417	0.557000	0.28306	0.128000	0.20619	7.747000	0.85070	2.205000	0.71048	0.528000	0.53228	GAA		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		12	38	0	0	0	1	0	12	38				
GSTP1	2950	broad.mit.edu	37	11	67352222	67352222	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:67352222C>G	ENST00000398606.3	+	4	460	c.211C>G	c.(211-213)Cgt>Ggt	p.R71G	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.R71G	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	71	GST N-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TACCATCCTGCGTCACCTGGG	0.612																																						ENST00000398606.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9						c.(211-213)Cgt>Ggt		glutathione S-transferase pi 1	Ethacrynic acid(DB00903)|Glutathione(DB00143)						83.0	92.0	89.0					11																	67352222		2005	4159	6164	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67352222C>G	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.211C>G	11.37:g.67352222C>G	ENSP00000381607:p.Arg71Gly					GSTP1_ENST00000398603.1_Missense_Mutation_p.R71G|GSTP1_ENST00000498765.1_3'UTR	p.R71G	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN			4	460	+			71			GST N-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.211C>G	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.646996	0.29246	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.09350	2.99;2.99	5.65	-3.57	0.04612	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.143985	0.38492	N	0.001670	T	0.28896	0.0717	M	0.90650	3.135	0.42052	D	0.991123	P	0.40211	0.707	P	0.56088	0.791	T	0.46105	-0.9215	9	0.87932	D	0	-17.2282	9.8888	0.41276	0.5263:0.2742:0.1996:0.0	.	71	P09211	GSTP1_HUMAN	G	71	ENSP00000381607:R71G;ENSP00000381604:R71G	ENSP00000381604:R71G	R	+	1	0	GSTP1	67108798	0.974000	0.33945	0.609000	0.28983	0.162000	0.22319	-0.053000	0.11846	-0.232000	0.09811	-0.187000	0.12897	CGT		0.612	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		21	125	0	0	0	1	0	21	125				
ELOVL7	79993	broad.mit.edu	37	5	60063693	60063693	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:60063693C>T	ENST00000508821.1	-	5	607	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	ELOVL7_ENST00000425382.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000505959.1_Missense_Mutation_p.R85Q|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R98Q	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	98					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AATGTCACATCGAAATGAATA	0.378																																						ENST00000505959.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(253-255)cGa>cAa		ELOVL fatty acid elongase 7							114.0	100.0	105.0					5																	60063693		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60063693C>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.293G>A	5.37:g.60063693C>T	ENSP00000424123:p.Arg98Gln					ELOVL7_ENST00000425382.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000508821.1_Missense_Mutation_p.R98Q|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R98Q	p.R85Q			A1L3X0	ELOV7_HUMAN			7	780	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	98					Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.254G>A	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242503	0.58995	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.64	0.718	0.18202	.	0.356787	0.28933	N	0.013677	T	0.21227	0.0511	M	0.64404	1.975	0.40403	D	0.979662	B;B	0.25719	0.067;0.132	B;B	0.31245	0.126;0.107	T	0.06643	-1.0815	10	0.24483	T	0.36	0.0047	10.2944	0.43616	0.0:0.665:0.0:0.335	.	85;98	D6RHD0;A1L3X0	.;ELOV7_HUMAN	Q	98;98;98;85;98;98	ENSP00000424123:R98Q;ENSP00000411255:R98Q;ENSP00000402634:R98Q;ENSP00000421043:R85Q;ENSP00000426400:R98Q;ENSP00000424081:R98Q	ENSP00000402634:R98Q	R	-	2	0	ELOVL7	60099450	0.908000	0.30866	0.998000	0.56505	0.987000	0.75469	0.281000	0.18810	0.163000	0.19507	-0.143000	0.13931	CGA		0.378	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			33	26	0	0	0	1	0	33	26				
BCLAF1	9774	broad.mit.edu	37	6	136599800	136599800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:136599800G>T	ENST00000531224.1	-	4	471	c.219C>A	c.(217-219)taC>taA	p.Y73*	BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Y71*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	73					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCTTCCTCTGTACCCATAAG	0.438																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(217-219)taC>taA		BCL2-associated transcription factor 1							89.0	86.0	87.0					6																	136599800		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599800G>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.219C>A	6.37:g.136599800G>T	ENSP00000435210:p.Tyr73*					BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Y73*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Y71*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Y71*	p.Y73*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	471	-	Colorectal(23;0.24)		73					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.219C>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071852	0.76301	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	4.64	0.57946	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-4.2511	7.9337	0.29918	0.2756:0.0:0.7244:0.0	.	.	.	.	X	73;71;73;73;71;71;73	.	ENSP00000229446:Y71X	Y	-	3	2	BCLAF1	136641493	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.666000	0.37460	1.131000	0.42111	0.557000	0.71058	TAC		0.438	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		15	125	1	0	5.03518e-11	1	5.41691e-11	15	125				
RBM39	9584	broad.mit.edu	37	20	34292657	34292657	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:34292657A>G	ENST00000253363.6	-	16	1448	c.1425T>C	c.(1423-1425)taT>taC	p.Y475Y	RBM39_ENST00000407261.4_Silent_p.Y318Y|RBM39_ENST00000528062.3_Silent_p.Y453Y|RBM39_ENST00000361162.6_Silent_p.Y469Y			Q14498	RBM39_HUMAN	RNA binding motif protein 39	475	Interaction with NCOA6. {ECO:0000250}.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GGCACTTCACATACACATTGC	0.373																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1405-1407)taT>taC		RNA binding motif protein 39							95.0	94.0	95.0					20																	34292657		2203	4300	6503	SO:0001819	synonymous_variant	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34292657A>G	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1425T>C	20.37:g.34292657A>G						RBM39_ENST00000253363.6_Silent_p.Y475Y|RBM39_ENST00000528062.3_Silent_p.Y453Y|RBM39_ENST00000407261.4_Silent_p.Y318Y	p.Y469Y	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			16	1791	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		475			Interaction with NCOA6 (By similarity).|RRM 3.		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	c.1407T>C	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	A	3.515	-0.098962	0.07010	.	.	ENSG00000131051	ENST00000448303	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	T	0.70561	0.3238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70263	-0.4920	4	.	.	.	.	14.8355	0.70180	1.0:0.0:0.0:0.0	.	.	.	.	R	326	.	.	C	-	1	0	RBM39	33756071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.491000	0.35583	2.154000	0.67381	0.528000	0.53228	TGT		0.373	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		21	145	0	0	0	1	0	21	145				
MAK	4117	broad.mit.edu	37	6	10818168	10818168	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:10818168A>G	ENST00000313243.2	-	4	575	c.193T>C	c.(193-195)Ttg>Ctg	p.L65L	MAK_ENST00000538030.1_Silent_p.L65L|MAK_ENST00000354489.2_Silent_p.L65L|MAK_ENST00000536370.1_Silent_p.L65L|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Silent_p.L65L|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	65	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACTTCTTTCAATTTAATAACA	0.244																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(193-195)Ttg>Ctg		male germ cell-associated kinase																																				SO:0001819	synonymous_variant	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10818168A>G		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.193T>C	6.37:g.10818168A>G						MAK_ENST00000538030.1_Silent_p.L65L|MAK_ENST00000474039.1_Silent_p.L65L|MAK_ENST00000536370.1_Silent_p.L65L|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Silent_p.L65L	p.L65L			P20794	MAK_HUMAN			4	575	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	65			Protein kinase.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	c.193T>C	CCDS4516.1																																																																																				0.244	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		8	9	0	0	0	1	0	8	9				
SYNJ2	8871	broad.mit.edu	37	6	158450035	158450035	+	Silent	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:158450035T>G	ENST00000355585.4	+	3	537	c.462T>G	c.(460-462)tcT>tcG	p.S154S	SYNJ2_ENST00000449859.2_Silent_p.S103S|SYNJ2_ENST00000367121.3_Silent_p.S154S|SYNJ2_ENST00000367122.2_Silent_p.S154S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	154	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGACAGCTCTGAATGGGGGA	0.607																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(460-462)tcT>tcG		synaptojanin 2							56.0	62.0	60.0					6																	158450035		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158450035T>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.462T>G	6.37:g.158450035T>G						SYNJ2_ENST00000367121.3_Silent_p.S154S|SYNJ2_ENST00000367122.2_Silent_p.S154S|SYNJ2_ENST00000449859.2_Silent_p.S103S	p.S154S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	537	+			154			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.462T>G	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	T	0.641	-0.813169	0.02798	.	.	ENSG00000078269	ENST00000367113	.	.	.	4.62	-8.0	0.01126	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71024	-0.4712	4	.	.	.	.	11.4235	0.49996	0.0:0.0996:0.1921:0.7083	.	.	.	.	R	129	.	.	L	+	2	0	SYNJ2	158370023	0.101000	0.21875	0.297000	0.24988	0.075000	0.17131	0.258000	0.18387	2.401000	0.81631	0.655000	0.94253	CTG		0.607	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			26	97	0	0	0	1	0	26	97				
NEU4	129807	broad.mit.edu	37	2	242758105	242758105	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:242758105C>G	ENST00000391969.2	+	5	1897	c.1186C>G	c.(1186-1188)Ctg>Gtg	p.L396V	NEU4_ENST00000325935.6_Missense_Mutation_p.L409V|NEU4_ENST00000405370.1_Missense_Mutation_p.L396V|NEU4_ENST00000404257.1_Missense_Mutation_p.L408V|NEU4_ENST00000407683.1_Missense_Mutation_p.L396V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	396					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGTATCCGCCTGAGCCAGTC	0.711																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(1186-1188)Ctg>Gtg		sialidase 4							8.0	10.0	9.0					2																	242758105		2171	4273	6444	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242758105C>G	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1186C>G	2.37:g.242758105C>G	ENSP00000375830:p.Leu396Val					NEU4_ENST00000325935.6_Missense_Mutation_p.L409V|NEU4_ENST00000407683.1_Missense_Mutation_p.L396V|NEU4_ENST00000405370.1_Missense_Mutation_p.L396V|NEU4_ENST00000404257.1_Missense_Mutation_p.L408V	p.L396V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	5	1897	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	396					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.1186C>G	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987401	0.53934	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	4.24	3.36	0.38483	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	L	0.58583	1.82	0.36142	D	0.846889	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	D	0.91588	0.5284	10	0.72032	D	0.01	-16.5654	11.7374	0.51773	0.0:0.9123:0.0:0.0877	.	408;408;396	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	V	396;396;406;408;396;409	ENSP00000385402:L396V;ENSP00000384804:L396V;ENSP00000385149:L408V;ENSP00000375830:L396V;ENSP00000320318:L409V	ENSP00000320318:L409V	L	+	1	2	NEU4	242406778	0.988000	0.35896	0.585000	0.28666	0.314000	0.28054	2.735000	0.47377	0.760000	0.33108	0.401000	0.26515	CTG		0.711	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		8	7	0	0	0	1	0	8	7				
UNC5D	137970	broad.mit.edu	37	8	35541103	35541103	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:35541103A>G	ENST00000404895.2	+	5	937	c.609A>G	c.(607-609)gaA>gaG	p.E203E	UNC5D_ENST00000453357.2_Silent_p.E198E|UNC5D_ENST00000416672.1_Silent_p.E203E|UNC5D_ENST00000287272.2_Silent_p.E203E|UNC5D_ENST00000420357.1_Silent_p.E203E	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	203	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACTCTGAACAAGACGAGA	0.453																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(607-609)gaA>gaG		unc-5 homolog D (C. elegans)							96.0	84.0	88.0					8																	35541103		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541103A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.609A>G	8.37:g.35541103A>G						UNC5D_ENST00000404895.2_Silent_p.E203E|UNC5D_ENST00000416672.1_Silent_p.E203E|UNC5D_ENST00000420357.1_Silent_p.E203E|UNC5D_ENST00000453357.2_Silent_p.E198E	p.E203E			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	629	+			203			Ig-like C2-type.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.609A>G	CCDS6093.2																																																																																				0.453	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			4	82	0	0	0	1	0	4	82				
PIK3R4	30849	broad.mit.edu	37	3	130463461	130463461	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:130463461C>T	ENST00000356763.3	-	2	1159	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATCAACAAAACGTTCAGGAGC	0.418																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(601-603)cGt>cAt		phosphoinositide-3-kinase, regulatory subunit 4							89.0	86.0	87.0					3																	130463461		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463461C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.602G>A	3.37:g.130463461C>T	ENSP00000349205:p.Arg201His						p.R201H	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			2	1159	-			201			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.602G>A	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888505	0.91814	.	.	ENSG00000196455	ENST00000356763	T	0.65732	-0.17	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046296	0.85682	D	0.000000	D	0.82751	0.5105	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85324	0.1086	10	0.87932	D	0	-9.3644	19.578	0.95452	0.0:1.0:0.0:0.0	.	201	Q99570	PI3R4_HUMAN	H	201	ENSP00000349205:R201H	ENSP00000349205:R201H	R	-	2	0	PIK3R4	131946151	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.741000	0.84997	2.705000	0.92388	0.462000	0.41574	CGT		0.418	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		14	46	0	0	0	1	0	14	46				
LMLN	89782	broad.mit.edu	37	3	197707201	197707201	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:197707201G>T	ENST00000330198.4	+	6	576	c.554G>T	c.(553-555)tGc>tTc	p.C185F	LMLN_ENST00000420910.2_Missense_Mutation_p.C185F|LMLN_ENST00000482695.1_Missense_Mutation_p.C133F|LMLN_ENST00000332636.5_Missense_Mutation_p.C133F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	185					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGCAGCAATGCCGGGTCTAC	0.478																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(553-555)tGc>tTc		leishmanolysin-like (metallopeptidase M8 family)							106.0	104.0	105.0					3																	197707201		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707201G>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.554G>T	3.37:g.197707201G>T	ENSP00000328829:p.Cys185Phe					LMLN_ENST00000420910.2_Missense_Mutation_p.C185F|LMLN_ENST00000332636.5_Missense_Mutation_p.C133F|LMLN_ENST00000482695.1_Missense_Mutation_p.C133F	p.C185F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	576	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	185					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.554G>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122476	0.77436	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.66439	2.03	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.997	D;D;D;D	0.91635	0.984;0.999;0.999;0.98	T	0.82061	-0.0644	10	0.87932	D	0	-14.3546	15.6129	0.76740	0.0:0.0:1.0:0.0	.	185;133;185;133	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	F	133;185;113;185;133	ENSP00000418324:C133F;ENSP00000328829:C185F;ENSP00000390872:C113F;ENSP00000410926:C185F;ENSP00000328611:C133F	ENSP00000328829:C185F	C	+	2	0	LMLN	199191598	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.785000	0.91822	2.635000	0.89317	0.650000	0.86243	TGC		0.478	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		36	163	1	0	2.2871e-25	1	2.58165e-25	36	163				
DOCK6	57572	broad.mit.edu	37	19	11323910	11323910	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:11323910C>T	ENST00000294618.7	-	35	4444	c.4433G>A	c.(4432-4434)cGc>cAc	p.R1478H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R817H|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1478					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCGTGCGTGCGGATGGTGCT	0.642																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4432-4434)cGc>cAc		dedicator of cytokinesis 6							41.0	49.0	46.0					19																	11323910		2189	4288	6477	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11323910C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4433G>A	19.37:g.11323910C>T	ENSP00000294618:p.Arg1478His					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R817H	p.R1478H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			35	4444	-			1478					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4433G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454616	0.84209	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.01947	4.54;4.54	5.04	4.01	0.46588	.	0.057454	0.64402	D	0.000002	T	0.12135	0.0295	M	0.90425	3.115	0.80722	D	1	D;P	0.65815	0.995;0.881	P;P	0.57679	0.825;0.564	T	0.01090	-1.1455	10	0.87932	D	0	-19.3858	12.4099	0.55461	0.0:0.9161:0.0:0.0839	.	817;1478	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	1478;817	ENSP00000294618:R1478H;ENSP00000321556:R817H	ENSP00000294618:R1478H	R	-	2	0	DOCK6	11184910	1.000000	0.71417	0.988000	0.46212	0.453000	0.32348	4.856000	0.62932	1.136000	0.42199	0.650000	0.86243	CGC		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		22	52	0	0	0	1	0	22	52				
PITPNM1	9600	broad.mit.edu	37	11	67263728	67263728	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:67263728C>T	ENST00000534749.1	-	14	2426	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	PITPNM1_ENST00000436757.2_Silent_p.P745P|PITPNM1_ENST00000356404.3_Silent_p.P746P|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	746	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTGGAACTTCGGGGCCAGCA	0.647																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2236-2238)ccG>ccA		phosphatidylinositol transfer protein, membrane-associated 1							41.0	42.0	42.0					11																	67263728		2200	4293	6493	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67263728C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2238G>A	11.37:g.67263728C>T						PITPNM1_ENST00000534749.1_Silent_p.P746P|PITPNM1_ENST00000436757.2_Silent_p.P745P	p.P746P	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			15	2463	-			746			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2238G>A	CCDS31620.1																																																																																				0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		19	45	0	0	0	1	0	19	45				
PUM2	23369	broad.mit.edu	37	2	20494150	20494150	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:20494150G>C	ENST00000361078.2	-	8	1161	c.1139C>G	c.(1138-1140)cCt>cGt	p.P380R	PUM2_ENST00000536417.1_Missense_Mutation_p.P324R|PUM2_ENST00000403432.1_Missense_Mutation_p.P380R|PUM2_ENST00000319801.5_Missense_Mutation_p.P380R|PUM2_ENST00000338086.5_Missense_Mutation_p.P380R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	380	Ala-rich.|Gln-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTGTCCAGGCTGAGCTTG	0.453																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1138-1140)cCt>cGt		pumilio RNA-binding family member 2							118.0	110.0	113.0					2																	20494150		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20494150G>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1139C>G	2.37:g.20494150G>C	ENSP00000354370:p.Pro380Arg					PUM2_ENST00000319801.5_Missense_Mutation_p.P380R|PUM2_ENST00000338086.5_Missense_Mutation_p.P380R|PUM2_ENST00000536417.1_Missense_Mutation_p.P324R|PUM2_ENST00000403432.1_Missense_Mutation_p.P380R	p.P380R			Q8TB72	PUM2_HUMAN			8	1161	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		380			Ala-rich.|Gln-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1139C>G		.	.	.	.	.	.	.	.	.	.	G	13.24	2.178660	0.38511	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.19250	2.19;2.46;2.49;2.22;2.19;2.16	5.81	4.88	0.63580	.	0.221370	0.47852	D	0.000219	T	0.17280	0.0415	L	0.36672	1.1	0.49687	D	0.999812	B;B;B	0.29136	0.005;0.012;0.234	B;B;B	0.28232	0.027;0.012;0.087	T	0.02917	-1.1094	10	0.34782	T	0.22	-12.3587	12.1875	0.54247	0.0:0.0:0.6715:0.3285	.	324;380;380	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	R	380;380;380;271;380;324	ENSP00000338173:P380R;ENSP00000354370:P380R;ENSP00000326746:P380R;ENSP00000409905:P271R;ENSP00000385992:P380R;ENSP00000440093:P324R	ENSP00000326746:P380R	P	-	2	0	PUM2	20357631	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.128000	0.64733	2.752000	0.94435	0.557000	0.71058	CCT		0.453	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		25	87	0	0	0	1	0	25	87				
TSPYL2	64061	broad.mit.edu	37	X	53114239	53114239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:53114239G>A	ENST00000375442.4	+	4	1233	c.1101G>A	c.(1099-1101)tgG>tgA	p.W367*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	367					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TTTTCAGCTGGTTCTCAAACC	0.617																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(1099-1101)tgG>tgA		TSPY-like 2							34.0	33.0	33.0					X																	53114239		2203	4300	6503	SO:0001587	stop_gained	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114239G>A	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1101G>A	X.37:g.53114239G>A	ENSP00000364591:p.Trp367*						p.W367*	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			4	1233	+			367					O94799|Q96DG7|Q9BZW6	Nonsense_Mutation	SNP	ENST00000375442.4	37	c.1101G>A	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	G	37	6.000821	0.97189	.	.	ENSG00000184205	ENST00000375442	.	.	.	3.33	3.33	0.38152	.	0.000000	0.38005	N	0.001845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5422	11.8304	0.52293	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000364591:W367X	W	+	3	0	TSPYL2	53130964	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.054000	0.71096	1.930000	0.55929	0.513000	0.50165	TGG		0.617	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		9	34	0	0	0	1	0	9	34				
NLRP11	204801	broad.mit.edu	37	19	56320181	56320181	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:56320181G>C	ENST00000589093.1	-	3	1888	c.1795C>G	c.(1795-1797)Cag>Gag	p.Q599E	NLRP11_ENST00000360133.3_Missense_Mutation_p.Q599E|NLRP11_ENST00000592953.1_Missense_Mutation_p.Q500E|NLRP11_ENST00000589824.2_Missense_Mutation_p.Q599E|NLRP11_ENST00000443188.1_Missense_Mutation_p.Q599E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	599							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAGATGCGCTGAACACTCAAC	0.408																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1795-1797)Cag>Gag		NLR family, pyrin domain containing 11							125.0	116.0	119.0					19																	56320181		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320181G>C	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1795C>G	19.37:g.56320181G>C	ENSP00000466285:p.Gln599Glu					NLRP11_ENST00000592953.1_Missense_Mutation_p.Q500E|NLRP11_ENST00000360133.3_Missense_Mutation_p.Q599E|NLRP11_ENST00000589824.2_Missense_Mutation_p.Q599E|NLRP11_ENST00000589093.1_Missense_Mutation_p.Q599E	p.Q599E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2505	-		Colorectal(82;0.0002)	599					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1795C>G	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	3.552	-0.091567	0.07053	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.52057	0.68;0.68	2.13	2.13	0.27403	.	.	.	.	.	T	0.28764	0.0713	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16289	0.008;0.015	T	0.27191	-1.0081	9	0.05721	T	0.95	.	7.8246	0.29307	0.0:0.0:1.0:0.0	.	599;599	P59045;P59045-2	NAL11_HUMAN;.	E	599	ENSP00000409898:Q599E;ENSP00000353251:Q599E	ENSP00000353251:Q599E	Q	-	1	0	NLRP11	61011993	0.001000	0.12720	0.005000	0.12908	0.031000	0.12232	0.520000	0.22878	1.521000	0.48983	0.655000	0.94253	CAG		0.408	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		41	93	0	0	0	1	0	41	93				
ZNF264	9422	broad.mit.edu	37	19	57705295	57705295	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:57705295G>A	ENST00000263095.6	+	2	500	c.86G>A	c.(85-87)gGg>gAg	p.G29E	ZNF264_ENST00000536056.1_Missense_Mutation_p.G29E|ZNF264_ENST00000599653.1_Missense_Mutation_p.G29E|ZNF264_ENST00000600531.1_Missense_Mutation_p.G29E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	29	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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGGAGTGGGGGCAGCTGGAC	0.537																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(85-87)gGg>gAg		zinc finger protein 264							168.0	163.0	165.0					19																	57705295		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57705295G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.86G>A	19.37:g.57705295G>A	ENSP00000263095:p.Gly29Glu					ZNF264_ENST00000536056.1_Missense_Mutation_p.G29E|ZNF264_ENST00000599653.1_Missense_Mutation_p.G29E|ZNF264_ENST00000600531.1_Missense_Mutation_p.G29E	p.G29E	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	2	500	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	29			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.86G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199824	0.38905	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01599	4.74;4.74	2.56	1.45	0.22620	Krueppel-associated box (4);	.	.	.	.	T	0.01835	0.0058	L	0.28344	0.845	0.24424	N	0.994602	D	0.54964	0.969	P	0.52066	0.689	T	0.14643	-1.0465	9	0.02654	T	1	.	4.8274	0.13423	0.1335:0.447:0.4195:0.0	.	29	O43296	ZN264_HUMAN	E	29	ENSP00000263095:G29E;ENSP00000440376:G29E	ENSP00000263095:G29E	G	+	2	0	ZNF264	62397107	0.340000	0.24792	0.990000	0.47175	0.572000	0.35998	0.551000	0.23361	0.588000	0.29660	0.491000	0.48974	GGG		0.537	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			72	157	0	0	0	1	0	72	157				
RHCG	51458	broad.mit.edu	37	15	90039687	90039687	+	Missense_Mutation	SNP	A	A	G	rs181242584	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:90039687A>G	ENST00000268122.4	-	1	157	c.89T>C	c.(88-90)gTg>gCg	p.V30A	RHCG_ENST00000544600.1_Missense_Mutation_p.V30A	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	30					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTCGTAGCGCACGAACACCCC	0.587													A|||	3	0.000599042	0.0	0.0043	5008	,	,		14172	0.0		0.0	False		,,,				2504	0.0					ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(88-90)gTg>gCg		Rh family, C glycoprotein							129.0	116.0	121.0					15																	90039687		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90039687A>G	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.89T>C	15.37:g.90039687A>G	ENSP00000268122:p.Val30Ala					RHCG_ENST00000544600.1_Missense_Mutation_p.V30A	p.V30A	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			1	157	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		30					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.89T>C	CCDS10351.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	A	18.66	3.671894	0.67928	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.27720	1.69;1.65	5.14	4.02	0.46733	.	0.250609	0.39475	N	0.001344	T	0.42630	0.1211	M	0.91818	3.245	0.58432	D	0.999997	P	0.45396	0.857	P	0.49387	0.609	T	0.54715	-0.8252	9	.	.	.	-15.4279	10.614	0.45439	0.924:0.0:0.076:0.0	.	30	Q9UBD6	RHCG_HUMAN	A	30;30;21	ENSP00000438123:V30A;ENSP00000268122:V30A	.	V	-	2	0	RHCG	87840691	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	8.719000	0.91436	0.815000	0.34398	0.402000	0.26972	GTG		0.587	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		52	184	0	0	0	1	0	52	184				
FAT2	2196	broad.mit.edu	37	5	150925037	150925037	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:150925037G>T	ENST00000261800.5	-	9	5663	c.5651C>A	c.(5650-5652)cCt>cAt	p.P1884H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1884					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATGGATAGGCCCGACTAT	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(5650-5652)cCt>cAt		FAT atypical cadherin 2							99.0	106.0	104.0					5																	150925037		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925037G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5651C>A	5.37:g.150925037G>T	ENSP00000261800:p.Pro1884His						p.P1884H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5663	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1884					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5651C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090945	0.36855	.	.	ENSG00000086570	ENST00000261800	T	0.60548	0.18	5.01	5.01	0.66863	Cadherin (1);Cadherin-like (1);	0.000000	0.53938	D	0.000046	T	0.72819	0.3508	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73911	-0.3833	10	0.51188	T	0.08	.	18.3202	0.90236	0.0:0.0:1.0:0.0	.	1884	Q9NYQ8	FAT2_HUMAN	H	1884	ENSP00000261800:P1884H	ENSP00000261800:P1884H	P	-	2	0	FAT2	150905230	1.000000	0.71417	0.076000	0.20297	0.025000	0.11179	7.904000	0.87408	2.330000	0.79161	0.467000	0.42956	CCT		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		64	135	1	0	4.09106e-26	1	4.6355e-26	64	135				
ANKS3	124401	broad.mit.edu	37	16	4777097	4777097	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:4777097G>A	ENST00000304283.4	-	4	546	c.252C>T	c.(250-252)atC>atT	p.I84I	ANKS3_ENST00000585773.1_Silent_p.I11I|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000592711.1_Intron|ANKS3_ENST00000450067.2_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	84										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGGTGCACGATTGTGTCGT	0.542																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(250-252)atC>atT		ankyrin repeat and sterile alpha motif domain containing 3							94.0	78.0	83.0					16																	4777097		2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4777097G>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.252C>T	16.37:g.4777097G>A						ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Silent_p.I11I|ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000592711.1_Intron	p.I84I	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			4	546	-			84					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.252C>T	CCDS10520.1																																																																																				0.542	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		17	34	0	0	0	1	0	17	34				
CLASRP	11129	broad.mit.edu	37	19	45571317	45571317	+	Intron	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:45571317G>A	ENST00000221455.3	+	15	1805				CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Splice_Site	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCCAAAGTCAGTAAGAATTTG	0.647																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.e14+1		CLK4-associating serine/arginine rich protein							37.0	38.0	38.0					19																	45571317		2203	4300	6503	SO:0001627	intron_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45571317G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1707+5G>A	19.37:g.45571317G>A						CLASRP_ENST00000221455.3_Intron|CLASRP_ENST00000391953.4_Intron				Q8N2M8	CLASR_HUMAN			14	2403	+								B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Splice_Site	SNP	ENST00000221455.3	37		CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523476	0.85600	.	.	ENSG00000104859	ENST00000391952;ENST00000544944	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9503	0.79830	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLASRP	50263157	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.519000	0.67074	2.370000	0.80446	0.313000	0.20887	.		0.647	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		32	17	0	0	0	1	0	32	17				
LRCH3	84859	broad.mit.edu	37	3	197518394	197518394	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:197518394C>G	ENST00000425562.2	+	1	245	c.245C>G	c.(244-246)aCg>aGg	p.T82R	LRCH3_ENST00000441090.2_Missense_Mutation_p.T82R|LRCH3_ENST00000438796.2_Missense_Mutation_p.T82R|RP11-803P9.1_ENST00000610089.1_lincRNA|LRCH3_ENST00000334859.4_Missense_Mutation_p.T82R|LRCH3_ENST00000414675.2_Missense_Mutation_p.T82R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	82						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CACGACCTGACGGACACCACC	0.766																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(244-246)aCg>aGg		leucine-rich repeats and calponin homology (CH) domain containing 3							6.0	8.0	7.0					3																	197518394		2147	4238	6385	SO:0001583	missense	84859					extracellular region		g.chr3:197518394C>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.245C>G	3.37:g.197518394C>G	ENSP00000393579:p.Thr82Arg					LRCH3_ENST00000441090.2_Missense_Mutation_p.T82R|LRCH3_ENST00000334859.4_Missense_Mutation_p.T82R|LRCH3_ENST00000425562.2_Missense_Mutation_p.T82R|LRCH3_ENST00000414675.2_Missense_Mutation_p.T82R	p.T82R			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	1	289	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		82					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.245C>G		.	.	.	.	.	.	.	.	.	.	C	21.9	4.211591	0.79240	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.51325	2.24;0.71;2.24;2.24;2.24	4.66	4.66	0.58398	.	0.136900	0.47093	D	0.000249	T	0.48786	0.1519	L	0.41027	1.25	0.80722	D	1	D;P;D;P	0.59767	0.986;0.639;0.977;0.933	P;B;P;P	0.50754	0.615;0.122;0.649;0.512	T	0.53236	-0.8467	10	0.87932	D	0	-7.5722	13.6102	0.62074	0.0:0.7309:0.2691:0.0	.	82;82;82;82	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	R	82	ENSP00000399751:T82R;ENSP00000394609:T82R;ENSP00000394965:T82R;ENSP00000334375:T82R;ENSP00000393579:T82R	ENSP00000334375:T82R	T	+	2	0	LRCH3	199002791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.499000	0.45372	2.422000	0.82143	0.644000	0.83932	ACG		0.766	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		3	34	0	0	0	1	0	3	34				
SORCS1	114815	broad.mit.edu	37	10	108521404	108521404	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:108521404C>T	ENST00000263054.6	-	5	908	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E301K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	301					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCCAAATTCAGCAGAGCTG	0.363																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(901-903)Gaa>Aaa		sortilin-related VPS10 domain containing receptor 1							131.0	113.0	119.0					10																	108521404		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108521404C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.901G>A	10.37:g.108521404C>T	ENSP00000263054:p.Glu301Lys					SORCS1_ENST00000344440.6_Missense_Mutation_p.E301K	p.E301K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	5	908	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	301					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.901G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182582	0.78677	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.21932	1.98;1.98	5.97	5.97	0.96955	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.34521	1.04	0.48135	D	0.999596	P;P;P;P;P	0.47302	0.893;0.887;0.887;0.82;0.887	B;P;P;B;P	0.50082	0.427;0.528;0.63;0.427;0.63	T	0.00298	-1.1837	9	.	.	.	-25.6961	15.9389	0.79739	0.0:1.0:0.0:0.0	.	301;301;301;301;301	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	301	ENSP00000263054:E301K;ENSP00000345964:E301K	.	E	-	1	0	SORCS1	108511394	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.736000	0.68597	2.836000	0.97738	0.655000	0.94253	GAA		0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		24	40	0	0	0	1	0	24	40				
CSMD3	114788	broad.mit.edu	37	8	113484819	113484819	+	Splice_Site	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:113484819C>G	ENST00000297405.5	-	32	5640		c.e32+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTTACTTACCAAACTCCTT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e32+1		CUB and Sushi multiple domains 3							109.0	103.0	105.0					8																	113484819		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113484819C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5395+1G>C	8.37:g.113484819C>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			32	5640	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120158	0.77323	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2401	0.89965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113553995	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.289000	0.78701	2.630000	0.89119	0.591000	0.81541	.		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	9	109	0	0	0	1	0	9	109				
SLC51A	200931	broad.mit.edu	37	3	195955139	195955139	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:195955139C>T	ENST00000296327.5	+	5	725	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	172					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ggctgctgctCACCAGGTGAG	0.672																																						ENST00000296327.5																			0											c.(514-516)ctC>ctT		solute carrier family 51, alpha subunit							47.0	48.0	48.0					3																	195955139		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195955139C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.516C>T	3.37:g.195955139C>T							p.L172L	NM_152672.5	NP_689885.4					5	725	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.516C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	4.625	0.116109	0.08831	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.5	1.41	0.22369	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25328	-1.0135	4	.	.	.	-13.6468	2.0856	0.03645	0.1221:0.405:0.239:0.2339	.	.	.	.	L	185	.	.	S	+	2	0	AC069257.9	197439536	0.991000	0.36638	0.993000	0.49108	0.469000	0.32828	0.039000	0.13884	0.414000	0.25790	0.655000	0.94253	TCA		0.672	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		28	216	0	0	0	1	0	28	216				
DDX3X	1654	broad.mit.edu	37	X	41205842	41205842	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:41205842C>T	ENST00000399959.2	+	14	2437	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	DDX3X_ENST00000457138.2_Missense_Mutation_p.R512C|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	528	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.R528C(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						ATATGTACATCGTATTGGTCG	0.368										HNSCC(61;0.18)																												ENST00000399959.2																			1	Substitution - Missense(1)	p.R528C(1)	NS(1)	NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1582-1584)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							167.0	159.0	162.0					X																	41205842		2194	4299	6493	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205842C>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1582C>T	X.37:g.41205842C>T	ENSP00000382840:p.Arg528Cys	HNSCC(61;0.18)				DDX3X_ENST00000457138.2_Missense_Mutation_p.R512C|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	p.R528C	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			14	2437	+			528			Helicase C-terminal.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1582C>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707943	0.89018	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	D;D	0.82433	-1.61;-1.61	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	H	0.96662	3.86	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	D	0.96435	0.9322	10	0.87932	D	0	-6.9543	17.9413	0.89027	0.0:1.0:0.0:0.0	.	512;540;528	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	C	528;512	ENSP00000382840:R528C;ENSP00000392494:R512C	ENSP00000382840:R528C	R	+	1	0	DDX3X	41090786	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.773000	0.85462	2.170000	0.68504	0.600000	0.82982	CGT		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		72	33	0	0	0	1	0	72	33				
RPS10	6204	broad.mit.edu	37	6	34392616	34392616	+	Splice_Site	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:34392616G>A	ENST00000326199.8	-	3	245	c.152C>T	c.(151-153)tCt>tTt	p.S51F	RPS10_ENST00000344700.3_Splice_Site_p.S51F|RPS10_ENST00000494077.1_5'UTR|RPS10-NUDT3_ENST00000605528.1_Splice_Site_p.S51F	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						GGACTTGAGAGACTGTAAGGC	0.483																																					Colon(121;749 1624 4895 8687 22360)	ENST00000605528.1																			0											c.e3-1									30.0	29.0	29.0					6																	34392616		2201	4294	6495	SO:0001630	splice_region_variant	100529239							g.chr6:34392616G>A	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.151-1C>T	6.37:g.34392616G>A						RPS10_ENST00000326199.8_Splice_Site_p.S51_splice|RPS10_ENST00000344700.3_Splice_Site_p.S51_splice|RPS10_ENST00000494077.1_5'UTR	p.S51_splice	NM_001202470.2	NP_001189399.1					3	168	-								B2R4E3|Q5TZC0	Splice_Site	SNP	ENST00000326199.8	37	c.150_splice	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987559	0.74589	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	D;D	0.89343	-2.35;-2.5	5.19	5.19	0.71726	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	H	0.98849	4.35	0.80722	D	1	B	0.27625	0.183	B	0.30716	0.119	D	0.93218	0.6606	10	0.66056	D	0.02	-11.6351	18.7885	0.91964	0.0:0.0:1.0:0.0	.	51	P46783	RS10_HUMAN	F	51	ENSP00000347271:S51F;ENSP00000363169:S51F	ENSP00000347271:S51F	S	-	2	0	RPS10	34500594	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.904000	0.87408	2.446000	0.82766	0.485000	0.47835	TCT		0.483	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1		Missense_Mutation	21	23	0	0	0	1	0	21	23				
FAM71B	153745	broad.mit.edu	37	5	156590594	156590594	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:156590594A>T	ENST00000302938.4	-	2	777	c.682T>A	c.(682-684)Tct>Act	p.S228T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	228	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGCAGAAGAGGTGGCTGCA	0.567																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(682-684)Tct>Act		family with sequence similarity 71, member B							110.0	108.0	108.0					5																	156590594		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590594A>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.682T>A	5.37:g.156590594A>T	ENSP00000305596:p.Ser228Thr						p.S228T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	777	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	228			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.682T>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559957	0.65538	.	.	ENSG00000170613	ENST00000302938	T	0.06933	3.24	3.96	3.96	0.45880	.	0.000000	0.41938	D	0.000785	T	0.21103	0.0508	L	0.60455	1.87	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01222	-1.1414	10	0.72032	D	0.01	-16.0043	9.5308	0.39193	1.0:0.0:0.0:0.0	.	228	Q8TC56	FA71B_HUMAN	T	228	ENSP00000305596:S228T	ENSP00000305596:S228T	S	-	1	0	FAM71B	156523172	0.673000	0.27539	0.051000	0.19133	0.545000	0.35147	3.420000	0.52735	2.014000	0.59158	0.533000	0.62120	TCT		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		45	101	0	0	0	1	0	45	101				
ZNF518A	9849	broad.mit.edu	37	10	97916275	97916275	+	RNA	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:97916275G>A	ENST00000534948.1	+	0	1053							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTGAAACATGAAGTTGACAA	0.303																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							66.0	65.0	65.0					10																	97916275		1800	4067	5867			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916275G>A	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916275G>A										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1053	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.303	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		20	61	0	0	0	1	0	20	61				
INCA1	388324	broad.mit.edu	37	17	4892181	4892181	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:4892181C>T	ENST00000574617.1	-	7	809	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000414043.3_5'Flank|INCA1_ENST00000575780.1_Missense_Mutation_p.E137K|INCA1_ENST00000576820.1_Missense_Mutation_p.E152K|CAMTA2_ENST00000358183.4_5'Flank|INCA1_ENST00000355025.3_Missense_Mutation_p.E137K|CAMTA2_ENST00000572543.1_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|CAMTA2_ENST00000381311.5_5'Flank|INCA1_ENST00000396829.2_Missense_Mutation_p.E152K|CAMTA2_ENST00000348066.3_5'Flank|RP5-1050D4.4_ENST00000575985.1_RNA			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	152					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						CAGCCCTCTTCGCCAAGCACC	0.572																																						ENST00000396829.2																			0				upper_aerodigestive_tract(1)	1						c.(454-456)Gaa>Aaa		inhibitor of CDK, cyclin A1 interacting protein 1							92.0	75.0	80.0					17																	4892181		2203	4300	6503	SO:0001583	missense	388324					nucleus		g.chr17:4892181C>T	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.454G>A	17.37:g.4892181C>T	ENSP00000458316:p.Glu152Lys					INCA1_ENST00000574617.1_Missense_Mutation_p.E152K|INCA1_ENST00000355025.3_Missense_Mutation_p.E137K|INCA1_ENST00000576820.1_Missense_Mutation_p.E152K|INCA1_ENST00000575780.1_Missense_Mutation_p.E137K	p.E152K	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN			8	1020	-			152					Q6J273|Q6PKN9	Missense_Mutation	SNP	ENST00000574617.1	37	c.454G>A	CCDS54074.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105538	0.37145	.	.	ENSG00000196388	ENST00000396829;ENST00000355025	.	.	.	4.08	-1.29	0.09288	.	1.335750	0.04808	N	0.434687	T	0.28034	0.0691	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.28902	-1.0029	9	0.46703	T	0.11	11.3671	7.5237	0.27643	0.0:0.5216:0.0:0.4784	.	137;152	Q0VD86-2;Q0VD86	.;INCA1_HUMAN	K	152;137	.	ENSP00000347129:E137K	E	-	1	0	INCA1	4832905	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.411000	0.07142	-0.169000	0.10834	-0.137000	0.14449	GAA		0.572	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	NM_213726		31	33	0	0	0	1	0	31	33				
CNOT1	23019	broad.mit.edu	37	16	58587688	58587688	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:58587688C>G	ENST00000317147.5	-	22	3300	c.2968G>C	c.(2968-2970)Gag>Cag	p.E990Q	CNOT1_ENST00000441024.2_Missense_Mutation_p.E990Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E985Q|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	990	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCACTTACCTCCTGTAAATGA	0.353																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2968-2970)Gag>Cag		CCR4-NOT transcription complex, subunit 1							114.0	112.0	112.0					16																	58587688		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58587688C>G	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2968G>C	16.37:g.58587688C>G	ENSP00000320949:p.Glu990Gln					CNOT1_ENST00000569240.1_Missense_Mutation_p.E985Q|CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.E990Q	p.E990Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	22	3300	-			990					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2968G>C	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374496	0.82573	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.50001	0.82;0.76	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.41356	1.27	0.80722	D	1	D;D;P	0.89917	0.989;1.0;0.853	D;D;P	0.72982	0.979;0.946;0.636	T	0.54490	-0.8286	10	0.30854	T	0.27	.	19.7939	0.96471	0.0:1.0:0.0:0.0	.	990;990;985	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Q	990;419;985;990	ENSP00000320949:E990Q;ENSP00000413113:E990Q	ENSP00000320949:E990Q	E	-	1	0	CNOT1	57145189	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.818000	0.86416	2.668000	0.90789	0.563000	0.77884	GAG		0.353	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		15	61	0	0	0	1	0	15	61				
ZDHHC12	84885	broad.mit.edu	37	9	131486279	131486279	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:131486279C>G	ENST00000372663.4	-	1	106	c.94G>C	c.(94-96)Gat>Cat	p.D32H	ZDHHC12_ENST00000372672.2_Missense_Mutation_p.D32H|RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372667.5_Missense_Mutation_p.D32H	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	32					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACCGGTATCGTGCAGGAAG	0.692																																						ENST00000372667.5																			0				central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						c.(94-96)Gat>Cat		zinc finger, DHHC-type containing 12							32.0	32.0	32.0					9																	131486279		2201	4299	6500	SO:0001583	missense	84885					integral to membrane	acyltransferase activity|zinc ion binding	g.chr9:131486279C>G	AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.94G>C	9.37:g.131486279C>G	ENSP00000361748:p.Asp32His					ZDHHC12_ENST00000372663.4_Missense_Mutation_p.D32H|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Missense_Mutation_p.D32H	p.D32H			Q96GR4	ZDH12_HUMAN			1	123	-			32					A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Missense_Mutation	SNP	ENST00000372663.4	37	c.94G>C	CCDS6909.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703284	0.88924	.	.	ENSG00000160446	ENST00000372663;ENST00000372672;ENST00000372667;ENST00000372664;ENST00000452105;ENST00000406904	T;T;T;T	0.52983	1.52;1.3;1.33;0.64	5.16	4.2	0.49525	.	0.420500	0.24191	N	0.040702	T	0.61375	0.2342	L	0.58101	1.795	0.40972	D	0.984706	D;D	0.76494	0.999;0.991	D;P	0.66847	0.947;0.752	T	0.61093	-0.7132	10	0.39692	T	0.17	.	13.4908	0.61393	0.0:0.7613:0.2387:0.0	.	32;32	Q96GR4-3;Q96GR4	.;ZDH12_HUMAN	H	32	ENSP00000361748:D32H;ENSP00000361752:D32H;ENSP00000387587:D32H;ENSP00000384205:D32H	ENSP00000361748:D32H	D	-	1	0	ZDHHC12	130526100	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	1.783000	0.38664	2.402000	0.81655	0.462000	0.41574	GAT		0.692	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054484.1	NM_032799		10	18	0	0	0	1	0	10	18				
SYMPK	8189	broad.mit.edu	37	19	46332459	46332459	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:46332459C>T	ENST00000245934.7	-	14	1998	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	585					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GATCTTTATGCGGACCTGGTG	0.627																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1753-1755)cGc>cAc		symplekin							36.0	30.0	32.0					19																	46332459		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332459C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1754G>A	19.37:g.46332459C>T	ENSP00000245934:p.Arg585His						p.R585H	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	1998	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	585					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1754G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771492	0.90108	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.32	5.32	0.75619	Armadillo-type fold (1);	0.056677	0.64402	D	0.000001	T	0.75576	0.3868	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.958	P;P	0.59948	0.866;0.585	T	0.77222	-0.2667	9	0.52906	T	0.07	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	600;585	Q4LE61;Q92797	.;SYMPK_HUMAN	H	585	.	ENSP00000245934:R585H	R	-	2	0	SYMPK	51024299	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	7.613000	0.82986	2.499000	0.84300	0.558000	0.71614	CGC		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	43	0	0	0	1	0	3	43				
ADCY1	107	broad.mit.edu	37	7	45614712	45614712	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:45614712G>A	ENST00000297323.7	+	1	592	c.570G>A	c.(568-570)gtG>gtA	p.V190V	ADCY1_ENST00000432715.1_De_novo_Start_InFrame	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	190					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTGGGCTCGTGGTGGCTGCGT	0.647																																						ENST00000432715.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71								adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						22.0	19.0	20.0					7																	45614712		2194	4274	6468	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45614712G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.570G>A	7.37:g.45614712G>A						ADCY1_ENST00000297323.7_Silent_p.V190V				Q08828	ADCY1_HUMAN			0	274	+								A4D2L8|Q75MI1	Translation_Start_Site	SNP	ENST00000297323.7	37		CCDS34631.1																																																																																				0.647	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		40	14	0	0	0	1	0	40	14				
WBSCR17	64409	broad.mit.edu	37	7	70853310	70853310	+	Missense_Mutation	SNP	C	C	T	rs267601554		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:70853310C>T	ENST00000333538.5	+	3	1146	c.512C>T	c.(511-513)tCc>tTc	p.S171F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	171	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCTGCGGTCCGTGCACAGT	0.557																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(511-513)tCc>tTc		Williams-Beuren syndrome chromosome region 17							138.0	108.0	118.0					7																	70853310		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853310C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.512C>T	7.37:g.70853310C>T	ENSP00000329654:p.Ser171Phe					WBSCR17_ENST00000498380.2_3'UTR	p.S171F	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			3	1146	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	171			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.512C>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274435	0.80580	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.59364	0.27;0.27	5.58	5.58	0.84498	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82379	0.5024	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86084	0.1546	10	0.87932	D	0	.	18.9334	0.92576	0.0:1.0:0.0:0.0	.	171	Q6IS24	GLTL3_HUMAN	F	171;149	ENSP00000329654:S171F;ENSP00000392019:S149F	ENSP00000329654:S171F	S	+	2	0	WBSCR17	70491246	1.000000	0.71417	0.583000	0.28640	0.466000	0.32739	7.768000	0.85345	2.782000	0.95742	0.655000	0.94253	TCC		0.557	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		15	55	0	0	0	1	0	15	55				
CASP6	839	broad.mit.edu	37	4	110610529	110610529	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:110610529G>C	ENST00000265164.2	-	7	916	c.839C>G	c.(838-840)tCa>tGa	p.S280*	AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Nonsense_Mutation_p.S191*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	280					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		AGTTAGCATTGAGGCAAAACA	0.408																																						ENST00000265164.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(838-840)tCa>tGa		caspase 6, apoptosis-related cysteine peptidase							73.0	80.0	78.0					4																	110610529		2203	4300	6503	SO:0001587	stop_gained	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110610529G>C	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.839C>G	4.37:g.110610529G>C	ENSP00000265164:p.Ser280*					CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Nonsense_Mutation_p.S191*	p.S280*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	7	916	-		Hepatocellular(203;0.217)	280					Q9BQE7	Nonsense_Mutation	SNP	ENST00000265164.2	37	c.839C>G	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	G	37	6.123425	0.97305	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	191;280	.	ENSP00000265164:S280X	S	-	2	0	CASP6	110829978	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.307000	0.96226	2.941000	0.99782	0.655000	0.94253	TCA		0.408	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		20	57	0	0	0	1	0	20	57				
MAN1A1	4121	broad.mit.edu	37	6	119509707	119509707	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:119509707C>T	ENST00000368468.3	-	11	2023	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	528					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCAACACCACCATCAAATCTG	0.383																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1582-1584)Ggt>Agt		mannosidase, alpha, class 1A, member 1							164.0	160.0	161.0					6																	119509707		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119509707C>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1582G>A	6.37:g.119509707C>T	ENSP00000357453:p.Gly528Ser						p.G528S	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2023	-		all_epithelial(87;0.173)	528					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1582G>A	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673760	0.67928	.	.	ENSG00000111885	ENST00000368468	T	0.71103	-0.54	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.10972	0.075	0.80722	D	1	D	0.53885	0.963	P	0.56751	0.805	T	0.54794	-0.8240	10	0.07175	T	0.84	-12.3534	20.1621	0.98139	0.0:1.0:0.0:0.0	.	528	P33908	MA1A1_HUMAN	S	528	ENSP00000357453:G528S	ENSP00000357453:G528S	G	-	1	0	MAN1A1	119551406	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	4.696000	0.61774	2.756000	0.94617	0.655000	0.94253	GGT		0.383	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		75	38	0	0	0	1	0	75	38				
PCDH15	65217	broad.mit.edu	37	10	55719586	55719586	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:55719586C>G	ENST00000320301.6	-	23	3422	c.3028G>C	c.(3028-3030)Gat>Cat	p.D1010H	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D939H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1017H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000409834.1_Missense_Mutation_p.D621H|PCDH15_ENST00000395433.1_Missense_Mutation_p.D988H|PCDH15_ENST00000395432.2_Missense_Mutation_p.D973H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1010H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1015H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1017H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1010	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCCCATCATCAAAAGCAACC	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3049-3051)Gat>Cat		protocadherin-related 15							81.0	72.0	75.0					10																	55719586		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55719586C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3028G>C	10.37:g.55719586C>G	ENSP00000322604:p.Asp1010His	HNSCC(58;0.16)				PCDH15_ENST00000395432.2_Missense_Mutation_p.D973H|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000437009.1_Missense_Mutation_p.D939H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D621H|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1010H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1010H|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1010H|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1015H|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1017H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D988H|PCDH15_ENST00000395446.1_Intron	p.D1017H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			24	3443	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1010			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3049G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497910	0.64186	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.49	4.58	0.56647	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89097	0.6618	H	0.98701	4.305	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;0.999;1.0	D	0.93364	0.6729	9	0.87932	D	0	.	15.1805	0.72952	0.0:0.8579:0.1421:0.0	.	988;1010;1010;1015;939;973;1010;1010;1017;1017;1010;1015;1010	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1017;1015;1010;1010;621;1017;973;1010;988;1010;1010;1015;939	ENSP00000363076:D1017H;ENSP00000410304:D1015H;ENSP00000378826:D1010H;ENSP00000386693:D621H;ENSP00000378832:D1017H;ENSP00000378820:D973H;ENSP00000354950:D1010H;ENSP00000378821:D988H;ENSP00000322604:D1010H;ENSP00000378818:D1010H;ENSP00000412628:D939H	ENSP00000322604:D1010H	D	-	1	0	PCDH15	55389592	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.327000	0.72910	1.302000	0.44855	-0.283000	0.09986	GAT		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		13	39	0	0	0	1	0	13	39				
AGAP2	116986	broad.mit.edu	37	12	58121794	58121794	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:58121794G>A	ENST00000547588.1	-	15	2691	c.2692C>T	c.(2692-2694)Cgg>Tgg	p.R898W	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2-AS1_ENST00000542466.2_3'UTR|AGAP2_ENST00000257897.3_Missense_Mutation_p.R542W	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	898	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAGGCATCCCGCTCCTCAAAA	0.557																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1624-1626)Cgg>Tgg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							130.0	122.0	125.0					12																	58121794		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58121794G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2692C>T	12.37:g.58121794G>A	ENSP00000449241:p.Arg898Trp					AGAP2_ENST00000547588.1_Missense_Mutation_p.R898W|AGAP2-AS1_ENST00000542466.2_3'UTR	p.R542W	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			14	1709	-			898			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1624C>T	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.080055|3.080055	0.55753|0.55753	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588	.|T;T	.|0.20200	.|2.09;2.09	5.0|5.0	3.12|3.12	0.35913|0.35913	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38427|0.38427	0.1040|0.1040	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.89917	.|1.0;0.366;0.957	.|D;B;P	.|0.78314	.|0.991;0.096;0.668	T|T	0.12066|0.12066	-1.0562|-1.0562	5|10	.|0.87932	.|D	.|0	.|.	12.4826|12.4826	0.55852|0.55852	0.0:0.0:0.4431:0.5569|0.0:0.0:0.4431:0.5569	.|.	.|542;898;898	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	V|W	741|542;898	.|ENSP00000257897:R542W;ENSP00000449241:R898W	.|ENSP00000257897:R542W	A|R	-|-	2|1	0|2	AGAP2|AGAP2	56408061|56408061	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	0.630000|0.630000	0.24553|0.24553	0.581000|0.581000	0.29539|0.29539	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.557	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		146	116	0	0	0	1	0	146	116				
SLC8B1	80024	broad.mit.edu	37	12	113737638	113737638	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:113737638A>C	ENST00000552014.1	-	17	2214	c.1699T>G	c.(1699-1701)Ttc>Gtc	p.F567V	SLC8B1_ENST00000202831.3_Missense_Mutation_p.F567V|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F511V|SLC8B1_ENST00000549069.1_Missense_Mutation_p.F126V|SLC8B1_ENST00000550047.1_Missense_Mutation_p.F82V			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	567					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										ACGACAAGGAAGTTCAGGTAG	0.567																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1699-1701)Ttc>Gtc									92.0	83.0	86.0					12																	113737638		2203	4300	6503	SO:0001583	missense	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113737638A>C	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1699T>G	12.37:g.113737638A>C	ENSP00000447091:p.Phe567Val					SLC24A6_ENST00000549069.1_Missense_Mutation_p.F126V|SLC24A6_ENST00000546737.1_Missense_Mutation_p.F511V|SLC24A6_ENST00000202831.3_Missense_Mutation_p.F567V|SLC24A6_ENST00000550047.1_Missense_Mutation_p.F82V	p.F567V			Q6J4K2	NCKX6_HUMAN			17	2214	-			567					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.1699T>G	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415070	0.83449	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000550047;ENST00000549069;ENST00000546737	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.58	5.58	0.84498	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.98	D	0.83892	0.0285	10	0.72032	D	0.01	.	15.8059	0.78506	1.0:0.0:0.0:0.0	.	567;272	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	V	567;567;511;82;126;511	ENSP00000447091:F567V;ENSP00000202831:F567V;ENSP00000447585:F82V;ENSP00000449519:F126V;ENSP00000450081:F511V	ENSP00000202831:F567V	F	-	1	0	SLC24A6	112222021	1.000000	0.71417	0.966000	0.40874	0.389000	0.30415	8.900000	0.92551	2.130000	0.65690	0.449000	0.29647	TTC		0.567	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		71	38	0	0	0	1	0	71	38				
ZRANB1	54764	broad.mit.edu	37	10	126631453	126631453	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:126631453G>T	ENST00000359653.4	+	1	762	c.391G>T	c.(391-393)Gct>Tct	p.A131S	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	131					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGACCAGTTGCTTTTTCTGT	0.463																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(391-393)Gct>Tct		zinc finger, RAN-binding domain containing 1							101.0	97.0	99.0					10																	126631453		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631453G>T	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.391G>T	10.37:g.126631453G>T	ENSP00000352676:p.Ala131Ser						p.A131S	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	762	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	131					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.391G>T	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	5.639	0.302495	0.10678	.	.	ENSG00000019995	ENST00000359653	T	0.18502	2.21	5.78	4.85	0.62838	.	0.210695	0.50627	D	0.000119	T	0.06188	0.0160	N	0.02011	-0.69	0.39783	D	0.972324	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	10	0.08837	T	0.75	-0.4742	13.1153	0.59297	0.0:0.3865:0.6135:0.0	.	131	Q9UGI0	ZRAN1_HUMAN	S	131	ENSP00000352676:A131S	ENSP00000352676:A131S	A	+	1	0	ZRANB1	126621443	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.688000	0.46984	2.724000	0.93272	0.655000	0.94253	GCT		0.463	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		24	54	1	0	2.21704e-12	1	2.39376e-12	24	54				
TTN	7273	broad.mit.edu	37	2	179529425	179529425	+	Intron	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179529425G>A	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T12053M|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCACAAGCGTTTTCTTTTC	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36157-36159)aCg>aTg		titin							61.0	58.0	59.0					2																	179529425		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529425G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+5519C>T	2.37:g.179529425G>A						TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	p.T12053M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		167	36382	-			10201			Ig-like 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36158C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.383613|2.383613	0.42207|0.42207	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000425332|ENST00000541862;ENST00000392423	.|.	.|.	.|.	5.53|5.53	-6.19|-6.19	0.02078|0.02078	.|.	.|.	.|.	.|.	.|.	T|T	0.17195|0.17195	0.0413|0.0413	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.30851	.|0.297	.|B	.|0.22152	.|0.038	T|T	0.16630|0.16630	-1.0396|-1.0396	4|7	.|0.48119	.|T	.|0.1	.|.	3.8218|3.8218	0.08839|0.08839	0.489:0.2695:0.1504:0.0911|0.489:0.2695:0.1504:0.0911	.|.	.|327	.|Q71S18	.|.	C|M	117|327;179	.|.	.|ENSP00000376219:T179M	R|T	-|-	1|2	0|0	TTN|TTN	179237670|179237670	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.898000|0.898000	0.52572|0.52572	-0.083000|-0.083000	0.11286|0.11286	-0.932000|-0.932000	0.03742|0.03742	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	11	0	0	0	1	0	61	11				
DDX51	317781	broad.mit.edu	37	12	132624979	132624979	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:132624979C>T	ENST00000397333.3	-	11	1700	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	554	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTGGATCTTCCCCTGTTCAA	0.612																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1660-1662)ggG>ggA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							85.0	96.0	92.0					12																	132624979		2059	4189	6248	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132624979C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1662G>A	12.37:g.132624979C>T							p.G554G	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	11	1700	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	554			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1662G>A	CCDS41865.1																																																																																				0.612	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		73	43	0	0	0	1	0	73	43				
UGT2B7	7364	broad.mit.edu	37	4	69962717	69962717	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:69962717T>A	ENST00000508661.1	+	1	506	c.479T>A	c.(478-480)cTg>cAg	p.L160Q	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.L160Q			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	160					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AGTGAGCTGCTGGCTGAGCTA	0.373																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(478-480)cTg>cAg		UDP glucuronosyltransferase 2 family, polypeptide B7							136.0	137.0	136.0					4																	69962717		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962717T>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.479T>A	4.37:g.69962717T>A	ENSP00000427659:p.Leu160Gln					UGT2B7_ENST00000508661.1_Missense_Mutation_p.L160Q|UGT2B7_ENST00000509763.1_Intron	p.L160Q	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	525	+			160					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.479T>A		.	.	.	.	.	.	.	.	.	.	T	15.67	2.901886	0.52227	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.64618	-0.11;-0.11	2.54	2.54	0.30619	.	0.777661	0.10526	U	0.664425	D	0.82737	0.5102	H	0.94542	3.55	0.26730	N	0.970601	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.68911	-0.5284	9	.	.	.	.	8.5583	0.33494	0.0:0.0:0.0:1.0	.	160;160	E9PBP8;P16662	.;UD2B7_HUMAN	Q	160	ENSP00000304811:L160Q;ENSP00000427659:L160Q	.	L	+	2	0	UGT2B7	69997306	0.791000	0.28800	0.054000	0.19295	0.045000	0.14185	5.322000	0.65852	1.157000	0.42530	0.260000	0.18958	CTG		0.373	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		18	60	0	0	0	1	0	18	60				
IFT46	56912	broad.mit.edu	37	11	118415635	118415635	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:118415635C>G	ENST00000264021.3	-	12	1329	c.911G>C	c.(910-912)aGc>aCc	p.S304T	TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_3'UTR|TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Missense_Mutation_p.S355T	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	304					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTGTCTCAGCTGAAGGTTAA	0.512																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(1063-1065)aGc>aCc		intraflagellar transport 46 homolog (Chlamydomonas)							144.0	147.0	146.0					11																	118415635		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118415635C>G	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.911G>C	11.37:g.118415635C>G	ENSP00000264021:p.Ser304Thr					TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_3'UTR|IFT46_ENST00000264021.3_Missense_Mutation_p.S304T	p.S355T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			13	1441	-			304					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.1064G>C	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281581	0.23392	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.48836	0.84;0.8	6.03	0.668	0.17912	.	0.472498	0.25535	N	0.030003	T	0.23649	0.0572	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.05550	-1.0878	10	0.18276	T	0.48	-9.5492	1.6254	0.02721	0.1126:0.3174:0.2088:0.3612	.	304;355	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	T	304;355	ENSP00000264021:S304T;ENSP00000264020:S355T	ENSP00000264020:S355T	S	-	2	0	IFT46	117920845	0.996000	0.38824	0.891000	0.34965	0.409000	0.31022	0.183000	0.16919	0.125000	0.18397	-0.136000	0.14681	AGC		0.512	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		3	11	0	0	0	1	0	3	11				
SHOX2	6474	broad.mit.edu	37	3	157815867	157815867	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:157815867G>A	ENST00000425436.3	-	5	970	c.945C>T	c.(943-945)atC>atT	p.I315I	SHOX2_ENST00000483851.2_Silent_p.I303I|SHOX2_ENST00000490689.2_Silent_p.I174I|SHOX2_ENST00000441443.2_Silent_p.I174I|SHOX2_ENST00000389589.4_Silent_p.I339I	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	315					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGAGATCGGCGATGCTGGAGT	0.677																																						ENST00000490689.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20						c.(520-522)atC>atT		short stature homeobox 2							172.0	181.0	178.0					3																	157815867		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157815867G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.945C>T	3.37:g.157815867G>A						SHOX2_ENST00000425436.3_Silent_p.I315I|SHOX2_ENST00000389589.4_Silent_p.I339I|SHOX2_ENST00000483851.2_Silent_p.I303I|SHOX2_ENST00000441443.2_Silent_p.I174I	p.I174I			O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	2055	-			315					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.522C>T	CCDS43164.1																																																																																				0.677	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			206	574	0	0	0	1	0	206	574				
BHLHB9	80823	broad.mit.edu	37	X	102005359	102005359	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chrX:102005359G>T	ENST00000372735.1	+	4	2021	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	BHLHB9_ENST00000448867.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000361229.4_Missense_Mutation_p.R479I|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R479I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	479					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCAGCCAGAGACATGATC	0.363																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1435-1437)aGa>aTa		basic helix-loop-helix domain containing, class B, 9							114.0	114.0	114.0					X																	102005359		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005359G>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1436G>T	X.37:g.102005359G>T	ENSP00000361820:p.Arg479Ile					BHLHB9_ENST00000361229.4_Missense_Mutation_p.R479I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000448867.1_Missense_Mutation_p.R479I|BHLHB9_ENST00000447531.1_Missense_Mutation_p.R479I	p.R479I			Q6PI77	BHLH9_HUMAN			4	2021	+			479					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1436G>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154586	0.57259	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.34	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.46758	D	0.000277	T	0.45736	0.1357	L	0.42245	1.32	0.48341	D	0.999631	D	0.89917	1.0	D	0.75484	0.986	T	0.30446	-0.9978	9	.	.	.	-19.8956	7.385	0.26878	0.1197:0.0:0.8803:0.0	.	479	Q6PI77	BHLH9_HUMAN	I	479	ENSP00000403226:R479I;ENSP00000354675:R479I;ENSP00000405893:R479I;ENSP00000391722:R479I;ENSP00000361820:R479I	.	R	+	2	0	BHLHB9	101892015	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	1.336000	0.33850	1.160000	0.42584	0.422000	0.28245	AGA		0.363	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		40	42	1	0	1.57019e-19	1	1.7525e-19	40	42				
CRLF3	51379	broad.mit.edu	37	17	29111242	29111242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:29111242G>A	ENST00000324238.6	-	8	1416	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	CRLF3_ENST00000544695.1_Missense_Mutation_p.S315L|CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	431					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATAGAAAAATGAGCATCCAAA	0.408																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1291-1293)tCa>tTa		cytokine receptor-like factor 3							93.0	85.0	88.0					17																	29111242		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29111242G>A	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1292C>T	17.37:g.29111242G>A	ENSP00000318804:p.Ser431Leu					CRLF3_ENST00000544695.1_Missense_Mutation_p.S315L	p.S431L	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			8	1416	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	431					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.1292C>T	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	g	18.27	3.586518	0.66105	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.66099	-0.19;-0.19	5.17	5.17	0.71159	.	0.108055	0.64402	D	0.000004	T	0.51584	0.1683	N	0.25890	0.77	0.80722	D	1	B	0.29988	0.264	B	0.26310	0.068	T	0.49835	-0.8897	10	0.39692	T	0.17	-9.1529	19.0006	0.92832	0.0:0.0:1.0:0.0	.	431	Q8IUI8	CRLF3_HUMAN	L	431;315	ENSP00000318804:S431L;ENSP00000444188:S315L	ENSP00000318804:S431L	S	-	2	0	CRLF3	26135368	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.422000	0.80217	2.561000	0.86390	0.563000	0.77884	TCA		0.408	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			30	45	0	0	0	1	0	30	45				
PAWR	5074	broad.mit.edu	37	12	80014868	80014868	+	Silent	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:80014868G>C	ENST00000328827.4	-	3	1008	c.636C>G	c.(634-636)tcC>tcG	p.S212S		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	212					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GTAGCAGATAGGAACTGCCTG	0.363																																						ENST00000328827.4																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(634-636)tcC>tcG		PRKC, apoptosis, WT1, regulator							280.0	222.0	242.0					12																	80014868		2203	4300	6503	SO:0001819	synonymous_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80014868G>C	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.636C>G	12.37:g.80014868G>C							p.S212S	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN			3	1008	-			212					O75796|Q6FHY9|Q8N700	Silent	SNP	ENST00000328827.4	37	c.636C>G	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	G	0.520	-0.862581	0.02610	.	.	ENSG00000177425	ENST00000551712	.	.	.	5.52	1.48	0.22813	.	.	.	.	.	T	0.44664	0.1304	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	-8.8887	3.2924	0.06953	0.157:0.1149:0.5466:0.1816	.	.	.	.	V	158	.	.	L	-	1	2	PAWR	78538999	0.731000	0.28111	0.592000	0.28758	0.055000	0.15305	0.054000	0.14205	0.823000	0.34589	0.650000	0.86243	CTA		0.363	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		56	136	0	0	0	1	0	56	136				
FAM118B	79607	broad.mit.edu	37	11	126110935	126110935	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:126110935C>G	ENST00000533050.1	+	4	828	c.335C>G	c.(334-336)tCt>tGt	p.S112C	FAM118B_ENST00000529731.1_Missense_Mutation_p.S112C|FAM118B_ENST00000360194.4_Missense_Mutation_p.S112C|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	112										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CAGAAACTCTCTCCTGTGAGT	0.393																																						ENST00000533050.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13						c.(334-336)tCt>tGt		family with sequence similarity 118, member B							93.0	91.0	92.0					11																	126110935		2201	4299	6500	SO:0001583	missense	79607							g.chr11:126110935C>G	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.335C>G	11.37:g.126110935C>G	ENSP00000433343:p.Ser112Cys					FAM118B_ENST00000360194.4_Missense_Mutation_p.S112C|FAM118B_ENST00000525728.1_3'UTR	p.S112C	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	4	828	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	112					Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	c.335C>G	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058570	0.55325	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.56611	1.33;1.33;0.61;1.33;0.45;0.58	6.08	6.08	0.98989	.	0.100972	0.64402	D	0.000001	T	0.64080	0.2566	L	0.27053	0.805	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.651	D;D;B	0.81914	0.995;0.99;0.299	T	0.63323	-0.6663	10	0.52906	T	0.07	-23.8594	20.6721	0.99693	0.0:1.0:0.0:0.0	.	112;112;112	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	C	112	ENSP00000433343:S112C;ENSP00000434952:S112C;ENSP00000432712:S112C;ENSP00000353321:S112C;ENSP00000437285:S112C;ENSP00000435754:S112C	ENSP00000353321:S112C	S	+	2	0	FAM118B	125616145	1.000000	0.71417	0.999000	0.59377	0.225000	0.24961	7.701000	0.84566	2.894000	0.99253	0.591000	0.81541	TCT		0.393	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		23	86	0	0	0	1	0	23	86				
ZDHHC17	23390	broad.mit.edu	37	12	77240409	77240409	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:77240409T>A	ENST00000426126.2	+	14	2106	c.1457T>A	c.(1456-1458)cTa>cAa	p.L486Q	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L486Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	486					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATGGGCTACCTATTCTTCTTG	0.358																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1456-1458)cTa>cAa		zinc finger, DHHC-type containing 17							183.0	156.0	164.0					12																	77240409		1831	4083	5914	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77240409T>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1457T>A	12.37:g.77240409T>A	ENSP00000403397:p.Leu486Gln					ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L486Q	p.L486Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			14	2106	+			486					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1457T>A	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901945	0.92035	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.34072	1.38;1.38	5.46	5.46	0.80206	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.216188	0.40144	N	0.001170	T	0.70727	0.3257	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80358	-0.1416	10	0.87932	D	0	-4.9523	15.529	0.75936	0.0:0.0:0.0:1.0	.	486	Q8IUH5	ZDH17_HUMAN	Q	486	ENSP00000403397:L486Q;ENSP00000334868:L486Q	ENSP00000334868:L486Q	L	+	2	0	ZDHHC17	75764540	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.959000	0.87885	2.073000	0.62155	0.528000	0.53228	CTA		0.358	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		6	11	0	0	0	1	0	6	11				
ABCF1	23	broad.mit.edu	37	6	30550868	30550868	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:30550868C>T	ENST00000326195.8	+	10	930	c.818C>T	c.(817-819)tCa>tTa	p.S273L	ABCF1_ENST00000376545.3_Missense_Mutation_p.S235L|MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	273					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAAGTGGCTTCATTAAAAGCA	0.483																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(817-819)tCa>tTa		ATP-binding cassette, sub-family F (GCN20), member 1							109.0	117.0	114.0					6																	30550868		1509	2708	4217	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30550868C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.818C>T	6.37:g.30550868C>T	ENSP00000313603:p.Ser273Leu					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S235L	p.S273L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			10	930	+			273					A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.818C>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665444	0.67700	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867	T;T;T	0.48201	0.82;0.88;0.92	5.23	5.23	0.72850	.	0.317749	0.30791	N	0.008870	T	0.22003	0.0530	N	0.21282	0.65	0.80722	D	1	B;P;P	0.42010	0.034;0.768;0.768	B;B;B	0.38225	0.016;0.268;0.268	T	0.03413	-1.1039	10	0.23302	T	0.38	-7.1738	17.5653	0.87918	0.0:1.0:0.0:0.0	.	235;273;273	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	L	273;235;274;274	ENSP00000313603:S273L;ENSP00000365728:S235L;ENSP00000405512:S274L	ENSP00000313603:S273L	S	+	2	0	ABCF1	30658847	0.991000	0.36638	0.983000	0.44433	0.781000	0.44180	5.569000	0.67391	2.451000	0.82905	0.313000	0.20887	TCA		0.483	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			68	127	0	0	0	1	0	68	127				
XIRP2	129446	broad.mit.edu	37	2	168103464	168103464	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:168103464G>A	ENST00000409195.1	+	9	5651	c.5562G>A	c.(5560-5562)caG>caA	p.Q1854Q	XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1679					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTAAATCAGAAAACAGTGA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5560-5562)caG>caA		xin actin-binding repeat containing 2							79.0	71.0	73.0					2																	168103464		1846	4088	5934	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103464G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5562G>A	2.37:g.168103464G>A						XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q1632Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1854Q|XIRP2_ENST00000409605.1_Intron	p.Q1854Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	5651	+			1679					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.5562G>A	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		63	27	0	0	0	1	0	63	27				
SLC7A14	57709	broad.mit.edu	37	3	170201150	170201150	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:170201150C>T	ENST00000231706.5	-	6	1383	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	356					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCCTCGGCATCGGGAAGAGGG	0.542											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1066-1068)ccG>ccA		solute carrier family 7, member 14							91.0	84.0	87.0					3																	170201150		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170201150C>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1068G>A	3.37:g.170201150C>T			OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.P356P	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		6	1383	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		356					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1068G>A	CCDS33892.1																																																																																				0.542	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		14	260	0	0	0	1	0	14	260				
MAP1S	55201	broad.mit.edu	37	19	17838760	17838760	+	Missense_Mutation	SNP	C	C	G	rs377353862		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:17838760C>G	ENST00000324096.4	+	5	2718	c.2567C>G	c.(2566-2568)aCg>aGg	p.T856R	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.T830R|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	856	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACGGCAAACGGAGAACGTC	0.667																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2566-2568)aCg>aGg		microtubule-associated protein 1S							19.0	19.0	19.0					19																	17838760		2202	4299	6501	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838760C>G	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2567C>G	19.37:g.17838760C>G	ENSP00000325313:p.Thr856Arg					MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.T830R|CTD-3149D2.4_ENST00000595363.1_RNA	p.T856R	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	2718	+			856			Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2567C>G	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	5.261	0.233685	0.09969	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.17370	2.28;2.28	4.67	-9.33	0.00639	.	1.392900	0.04743	N	0.423122	T	0.06826	0.0174	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.35151	-0.9800	10	0.07482	T	0.82	0.0113	1.2079	0.01899	0.4333:0.1185:0.218:0.2302	.	830;856	B4DH53;Q66K74	.;MAP1S_HUMAN	R	856;830	ENSP00000325313:T856R;ENSP00000439243:T830R	ENSP00000325313:T856R	T	+	2	0	MAP1S	17699760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.605000	0.05661	-1.992000	0.00975	-0.136000	0.14681	ACG		0.667	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		10	28	0	0	0	1	0	10	28				
TRHDE	29953	broad.mit.edu	37	12	73050773	73050773	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:73050773A>T	ENST00000261180.4	+	18	3012	c.2916A>T	c.(2914-2916)gaA>gaT	p.E972D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	972					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTAATACTGAAGGTGAACTCA	0.294																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2914-2916)gaA>gaT		thyrotropin-releasing hormone degrading enzyme							82.0	90.0	87.0					12																	73050773		2203	4297	6500	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73050773A>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2916A>T	12.37:g.73050773A>T	ENSP00000261180:p.Glu972Asp						p.E972D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			18	3012	+			972					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2916A>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228856	0.58777	.	.	ENSG00000072657	ENST00000261180	T	0.05925	3.37	5.2	4.05	0.47172	.	0.052540	0.85682	D	0.000000	T	0.07234	0.0183	L	0.52266	1.64	0.54753	D	0.999981	P	0.36199	0.543	B	0.34991	0.193	T	0.15983	-1.0418	10	0.72032	D	0.01	.	8.3288	0.32173	0.8309:0.0:0.1691:0.0	.	972	Q9UKU6	TRHDE_HUMAN	D	972	ENSP00000261180:E972D	ENSP00000261180:E972D	E	+	3	2	TRHDE	71337040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.786000	0.47790	0.914000	0.36822	0.460000	0.39030	GAA		0.294	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		76	30	0	0	0	1	0	76	30				
PCDHB5	26167	broad.mit.edu	37	5	140515316	140515316	+	Silent	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:140515316A>G	ENST00000231134.5	+	1	517	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGACAGAACCCTGTATAT	0.428																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(298-300)gaA>gaG									63.0	68.0	67.0					5																	140515316		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515316A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.300A>G	5.37:g.140515316A>G							p.E100E	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	517	+			100			Cadherin 1.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.300A>G	CCDS4247.1																																																																																				0.428	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		22	66	0	0	0	1	0	22	66				
AP3D1	8943	broad.mit.edu	37	19	2117225	2117225	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:2117225C>T	ENST00000345016.5	-	16	2086	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	AP3D1_ENST00000350812.6_Missense_Mutation_p.E450K|AP3D1_ENST00000355272.6_Missense_Mutation_p.E619K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E528K	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	619					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTACCCTTCGGGGACTGGA	0.642																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1855-1857)Gaa>Aaa		adaptor-related protein complex 3, delta 1 subunit							38.0	44.0	42.0					19																	2117225		1976	4152	6128	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2117225C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1855G>A	19.37:g.2117225C>T	ENSP00000344055:p.Glu619Lys					AP3D1_ENST00000356926.4_Missense_Mutation_p.E528K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E619K|AP3D1_ENST00000350812.6_Missense_Mutation_p.E450K	p.E619K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2061	-		Hepatocellular(1079;0.137)	619					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1855G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853813	0.91355	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	4.91	3.83	0.44106	Armadillo-like helical (1);Armadillo-type fold (1);	0.142238	0.64402	D	0.000007	T	0.39279	0.1072	M	0.82323	2.585	0.80722	D	1	D;P;D	0.89917	1.0;0.898;0.987	D;B;P	0.76575	0.988;0.246;0.81	T	0.38023	-0.9680	10	0.66056	D	0.02	.	13.2311	0.59945	0.1604:0.8396:0.0:0.0	.	619;619;528	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	K	528;619;619;619;450	ENSP00000349398:E528K;ENSP00000344055:E619K;ENSP00000347416:E619K;ENSP00000342321:E450K	ENSP00000341579:E619K	E	-	1	0	AP3D1	2068225	1.000000	0.71417	0.772000	0.31596	0.850000	0.48378	7.644000	0.83416	0.984000	0.38629	0.655000	0.94253	GAA		0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			9	28	0	0	0	1	0	9	28				
SRP54	6729	broad.mit.edu	37	14	35487966	35487966	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:35487966A>C	ENST00000556994.1	+	13	1439	c.1042A>C	c.(1042-1044)Atc>Ctc	p.I348L	SRP54_ENST00000546080.1_Missense_Mutation_p.I299L|SRP54_ENST00000555557.1_Missense_Mutation_p.I284L|SRP54_ENST00000216774.6_Missense_Mutation_p.I348L			P61011	SRP54_HUMAN	signal recognition particle 54kDa	348	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CTTCAGTCAGATCTTGGTTAG	0.289																																						ENST00000556994.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1042-1044)Atc>Ctc		signal recognition particle 54kDa							152.0	149.0	150.0					14																	35487966		2203	4299	6502	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35487966A>C	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.1042A>C	14.37:g.35487966A>C	ENSP00000451818:p.Ile348Leu					SRP54_ENST00000546080.1_Missense_Mutation_p.I299L|SRP54_ENST00000555557.1_Missense_Mutation_p.I284L|SRP54_ENST00000216774.6_Missense_Mutation_p.I348L	p.I348L			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	13	1439	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		348			M-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.1042A>C	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247273	0.59103	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.63	5.63	0.86233	Signal recognition particle, SRP54 subunit, M-domain (3);	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.41027	1.25	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.008	T	0.48854	-0.8998	9	0.27082	T	0.32	-14.9964	15.8313	0.78752	1.0:0.0:0.0:0.0	.	299;348	B4DUW6;P61011	.;SRP54_HUMAN	L	348;348;299;284	.	ENSP00000216774:I348L	I	+	1	0	SRP54	34557717	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.253000	0.95501	2.139000	0.66308	0.482000	0.46254	ATC		0.289	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		4	33	0	0	0	1	0	4	33				
EPHB4	2050	broad.mit.edu	37	7	100421372	100421372	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:100421372C>A	ENST00000358173.3	-	3	773	c.305G>T	c.(304-306)cGg>cTg	p.R102L	EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R102L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	102	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGCCCAGCCCGAGGCAGGGA	0.672																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(304-306)cGg>cTg		EPH receptor B4							66.0	62.0	63.0					7																	100421372		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421372C>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.305G>T	7.37:g.100421372C>A	ENSP00000350896:p.Arg102Leu					EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R102L	p.R102L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	773	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		102					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.305G>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	c	11.73	1.727055	0.30593	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.09630	2.96;2.96	5.23	3.42	0.39159	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.294536	0.24296	N	0.039779	T	0.07503	0.0189	L	0.27053	0.805	0.09310	N	1	P;P;P;P;P	0.45827	0.665;0.867;0.8;0.843;0.8	B;B;B;B;B	0.40741	0.094;0.26;0.162;0.339;0.326	T	0.22312	-1.0220	10	0.42905	T	0.14	.	7.0449	0.25040	0.0:0.7202:0.0:0.2798	.	102;102;102;102;102	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	L	102	ENSP00000353833:R102L;ENSP00000350896:R102L	ENSP00000350896:R102L	R	-	2	0	EPHB4	100259308	0.134000	0.22483	0.026000	0.17262	0.804000	0.45430	0.646000	0.24797	0.596000	0.29794	0.556000	0.70494	CGG		0.672	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		53	72	1	0	7.71302e-15	1	8.48147e-15	53	72				
KIF4B	285643	broad.mit.edu	37	5	154395793	154395793	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:154395793C>G	ENST00000435029.4	+	1	2534	c.2374C>G	c.(2374-2376)Cct>Gct	p.P792A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	792	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGAATCCACCTCCTAAACT	0.443																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2374-2376)Cct>Gct		kinesin family member 4B							48.0	52.0	50.0					5																	154395793		2202	4300	6502	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395793C>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2374C>G	5.37:g.154395793C>G	ENSP00000387875:p.Pro792Ala						p.P792A	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2534	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	792			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2374C>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	6.447	0.450655	0.12223	.	.	ENSG00000226650	ENST00000435029	T	0.66638	-0.22	2.14	2.14	0.27477	.	.	.	.	.	T	0.49745	0.1575	L	0.39397	1.21	0.37952	D	0.932674	B	0.17268	0.021	B	0.16289	0.015	T	0.37820	-0.9689	9	0.08837	T	0.75	.	8.2417	0.31665	0.0:1.0:0.0:0.0	.	792	Q2VIQ3	KIF4B_HUMAN	A	792	ENSP00000387875:P792A	ENSP00000387875:P792A	P	+	1	0	KIF4B	154375986	0.683000	0.27633	0.986000	0.45419	0.826000	0.46750	2.484000	0.45242	1.138000	0.42230	0.563000	0.77884	CCT		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			8	55	0	0	0	1	0	8	55				
FKBP8	23770	broad.mit.edu	37	19	18648530	18648530	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:18648530G>C	ENST00000596558.2	-	6	932	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	FKBP8_ENST00000610101.1_Missense_Mutation_p.L116V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000608443.1_Missense_Mutation_p.L276V|FKBP8_ENST00000222308.4_Missense_Mutation_p.L275V|FKBP8_ENST00000597960.3_Missense_Mutation_p.L276V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L304V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	275					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						AGGTTGTTCAGACACTTCACC	0.622																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(826-828)Ctg>Gtg		FK506 binding protein 8, 38kDa							94.0	74.0	81.0					19																	18648530		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648530G>C	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.823C>G	19.37:g.18648530G>C	ENSP00000472302:p.Leu275Val					FKBP8_ENST00000596558.1_Missense_Mutation_p.L275V|FKBP8_ENST00000544835.2_Missense_Mutation_p.L116V|FKBP8_ENST00000453489.2_Missense_Mutation_p.L304V|FKBP8_ENST00000222308.3_Missense_Mutation_p.L276V	p.L276V			Q14318	FKBP8_HUMAN			6	946	-			275					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.826C>G		.	.	.	.	.	.	.	.	.	.	G	13.19	2.162484	0.38217	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.76578	-1.03;-1.03;-1.03	4.67	2.54	0.30619	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.078876	0.52532	D	0.000075	T	0.80839	0.4700	M	0.64997	1.995	0.42249	D	0.991962	P;P;P;D	0.61697	0.941;0.908;0.903;0.99	P;P;P;P	0.59948	0.607;0.714;0.727;0.866	T	0.76214	-0.3041	10	0.19590	T	0.45	-14.8703	9.8518	0.41061	0.1664:0.0:0.8336:0.0	.	304;219;275;276	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	276;116;304	ENSP00000222308:L276V;ENSP00000441267:L116V;ENSP00000388891:L304V	ENSP00000222308:L276V	L	-	1	2	FKBP8	18509530	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	2.837000	0.48191	0.596000	0.29794	0.644000	0.83932	CTG		0.622	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		31	54	0	0	0	1	0	31	54				
SNTG2	54221	broad.mit.edu	37	2	1241661	1241661	+	Splice_Site	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:1241661T>A	ENST00000308624.5	+	10	850	c.721T>A	c.(721-723)Tgg>Agg	p.W241R	SNTG2_ENST00000407292.1_Splice_Site_p.W114R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	241					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTCCCCAGGTGGAATGCGTT	0.667																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.e10-1		syntrophin, gamma 2							29.0	33.0	32.0					2																	1241661		2196	4292	6488	SO:0001630	splice_region_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241661T>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.720-1T>A	2.37:g.1241661T>A						SNTG2_ENST00000407292.1_Splice_Site_p.W114_splice	p.W241_splice	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	850	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	241					Q05AH5	Splice_Site	SNP	ENST00000308624.5	37	c.719_splice	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	T	0.806	-0.753642	0.03041	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.52526	0.66;0.66	4.68	4.68	0.58851	.	0.319061	0.34879	N	0.003620	T	0.17619	0.0423	N	0.01352	-0.895	0.25427	N	0.988211	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.11036	-1.0604	10	0.25106	T	0.35	.	7.2498	0.26142	0.0:0.1009:0.0:0.8991	.	114;241	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	R	241;114	ENSP00000311837:W241R;ENSP00000385020:W114R	ENSP00000311837:W241R	W	+	1	0	SNTG2	1224212	0.999000	0.42202	0.881000	0.34555	0.006000	0.05464	3.248000	0.51430	1.863000	0.54032	0.533000	0.62120	TGG		0.667	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	Missense_Mutation	5	9	0	0	0	1	0	5	9				
POU3F3	5455	broad.mit.edu	37	2	105472255	105472255	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:105472255A>C	ENST00000361360.2	+	1	287	c.287A>C	c.(286-288)cAg>cCg	p.Q96P	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	96	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACGCGCACCAGTGGGTCACA	0.746																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(286-288)cAg>cCg		POU class 3 homeobox 3							6.0	8.0	7.0					2																	105472255		1458	2937	4395	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472255A>C		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.287A>C	2.37:g.105472255A>C	ENSP00000355001:p.Gln96Pro					RP11-13J10.1_ENST00000598623.1_RNA	p.Q96P	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	287	+			96			Ala-rich.|Gly-rich.		P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.287A>C	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	a	6.182	0.401720	0.11696	.	.	ENSG00000198914	ENST00000361360	D	0.86366	-2.11	1.62	0.12	0.14691	.	0.554753	0.15076	U	0.281920	D	0.84483	0.5482	L	0.60067	1.865	0.40408	D	0.979724	P	0.44006	0.824	P	0.46208	0.507	T	0.79754	-0.1670	10	0.87932	D	0	.	5.5616	0.17146	0.8342:0.0:0.1658:0.0	.	96	P20264	PO3F3_HUMAN	P	96	ENSP00000355001:Q96P	ENSP00000355001:Q96P	Q	+	2	0	POU3F3	104838687	1.000000	0.71417	0.088000	0.20740	0.000000	0.00434	3.927000	0.56499	-0.169000	0.10834	0.000000	0.15137	CAG		0.746	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			7	14	0	0	0	1	0	7	14				
DOCK10	55619	broad.mit.edu	37	2	225670843	225670843	+	Splice_Site	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:225670843C>A	ENST00000258390.7	-	34	3881	c.3814G>T	c.(3814-3816)Gca>Tca	p.A1272S	DOCK10_ENST00000409592.3_Splice_Site_p.A1266S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1272					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTCAAGTACCTGCTATGGAA	0.338																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.e34+1		dedicator of cytokinesis 10							102.0	102.0	102.0					2																	225670843		1858	4093	5951	SO:0001630	splice_region_variant	55619						GTP binding	g.chr2:225670843C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3814+1G>T	2.37:g.225670843C>A						DOCK10_ENST00000258390.7_Splice_Site_p.A1272_splice	p.A1266_splice			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	34	3909	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1272					B3FL70|O75178|Q9NW06|Q9NXI8	Splice_Site	SNP	ENST00000258390.7	37	c.3796_splice	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268183|3.268183	0.59540|0.59540	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390|ENST00000422684	T;T|.	0.22134|.	1.97;1.97|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68155|0.68155	0.2970|0.2970	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999992|0.999992	B;B|.	0.33000|.	0.094;0.393|.	B;B|.	0.27500|.	0.039;0.08|.	T|T	0.61197|0.61197	-0.7111|-0.7111	9|5	.|.	.|.	.|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1272;1266|.	Q96BY6;B3FL70|.	DOC10_HUMAN;.|.	S|H	1266;1272|162	ENSP00000386694:A1266S;ENSP00000258390:A1272S|.	.|.	A|Q	-|-	1|3	0|2	DOCK10|DOCK10	225379087|225379087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.692000|6.692000	0.74578|0.74578	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Missense_Mutation	4	8	1	0	0.150653	1	0.152703	4	8				
UGGT2	55757	broad.mit.edu	37	13	96684209	96684209	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:96684209C>T	ENST00000376747.3	-	2	245	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	UGGT2_ENST00000376712.4_Missense_Mutation_p.E59K|UGGT2_ENST00000376714.3_Missense_Mutation_p.E59K|UGGT2_ENST00000397618.3_Missense_Mutation_p.E59K	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	59					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCATTACTTTCTTCTGCCATA	0.269																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(175-177)Gaa>Aaa		UDP-glucose glycoprotein glucosyltransferase 2							49.0	52.0	51.0					13																	96684209		2198	4281	6479	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96684209C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.175G>A	13.37:g.96684209C>T	ENSP00000365938:p.Glu59Lys					UGGT2_ENST00000376712.4_Missense_Mutation_p.E59K|UGGT2_ENST00000397618.3_Missense_Mutation_p.E59K|UGGT2_ENST00000376714.3_Missense_Mutation_p.E59K	p.E59K	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			2	245	-			59					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.175G>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257933	0.95368	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.38240	2.78;1.15	6.03	6.03	0.97812	.	0.104234	0.64402	D	0.000004	T	0.63628	0.2527	M	0.86178	2.8	0.58432	D	0.999999	D;D;D	0.62365	0.982;0.982;0.991	P;P;P	0.58721	0.802;0.802;0.844	T	0.67425	-0.5674	10	0.87932	D	0	-32.114	20.5666	0.99351	0.0:1.0:0.0:0.0	.	59;59;59	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	K	59	ENSP00000365938:E59K;ENSP00000380743:E59K	ENSP00000365902:E59K	E	-	1	0	UGGT2	95482210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.440000	0.73435	2.854000	0.98071	0.655000	0.94253	GAA		0.269	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		13	12	0	0	0	1	0	13	12				
ZNF80	7634	broad.mit.edu	37	3	113955233	113955233	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:113955233T>G	ENST00000482457.2	-	1	1192	c.689A>C	c.(688-690)tAt>tCt	p.Y230S	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	230					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)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AGTGAGGGAATAGCTGTAGTA	0.468																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(688-690)tAt>tCt		zinc finger protein 80							110.0	110.0	110.0					3																	113955233		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955233T>G	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.689A>C	3.37:g.113955233T>G	ENSP00000417192:p.Tyr230Ser						p.Y230S	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	1192	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	230					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.689A>C	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	T	0.084	-1.178304	0.01633	.	.	ENSG00000174255	ENST00000482457	T	0.06687	3.27	3.22	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01189	0.0039	N	0.00202	-1.86	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.42241	-0.9463	9	0.02654	T	1	.	0.8392	0.01146	0.1634:0.2124:0.3338:0.2904	.	230	P51504	ZNF80_HUMAN	S	230	ENSP00000417192:Y230S	ENSP00000309812:Y230S	Y	-	2	0	ZNF80	115437923	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-1.365000	0.02587	-0.469000	0.06911	0.459000	0.35465	TAT		0.468	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		13	77	0	0	0	1	0	13	77				
RIMS2	9699	broad.mit.edu	37	8	104927760	104927760	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:104927760G>T	ENST00000436393.2	+	5	1425	c.1184G>T	c.(1183-1185)tGt>tTt	p.C395F	RIMS2_ENST00000406091.3_Missense_Mutation_p.C617F|RIMS2_ENST00000262231.10_Missense_Mutation_p.C472F|RIMS2_ENST00000507740.1_Missense_Mutation_p.C425F			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	695					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGTCGGCTTTGTGCATTTATT	0.333										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1273-1275)tGt>tTt		regulating synaptic membrane exocytosis 2							108.0	101.0	103.0					8																	104927760		1820	4078	5898	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104927760G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1184G>T	8.37:g.104927760G>T	ENSP00000390665:p.Cys395Phe	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.C617F|RIMS2_ENST00000436393.2_Missense_Mutation_p.C395F|RIMS2_ENST00000262231.10_Missense_Mutation_p.C472F	p.C425F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		5	1510	+			695					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1274G>T		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716921	0.89205	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.39226	0.1070	N	0.17278	0.47	0.80722	D	1	P;D;D;P;P;D	0.76494	0.665;0.992;0.999;0.866;0.863;0.97	P;D;D;P;P;D	0.91635	0.573;0.957;0.999;0.901;0.82;0.961	T	0.29088	-1.0023	9	0.56958	D	0.05	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	695;695;395;472;425;617	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	F	617;648;617;695;8;425;472;425;425;395	ENSP00000427018:C617F;ENSP00000384892:C617F;ENSP00000425205:C425F;ENSP00000262231:C472F;ENSP00000423559:C425F;ENSP00000386228:C425F;ENSP00000390665:C395F	ENSP00000262231:C472F	C	+	2	0	RIMS2	104996936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	TGT		0.333	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		24	68	1	0	1.16021e-09	1	1.23479e-09	24	68				
TTN	7273	broad.mit.edu	37	2	179417911	179417911	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179417911C>A	ENST00000591111.1	-	285	85017	c.84793G>T	c.(84793-84795)Gat>Tat	p.D28265Y	TTN_ENST00000359218.5_Missense_Mutation_p.D20966Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D29906Y|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27338Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20841Y|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21033Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28265	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTGTATCATTGCGAGTA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89716-89718)Gat>Tat		titin							158.0	154.0	156.0					2																	179417911		1919	4127	6046	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417911C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84793G>T	2.37:g.179417911C>A	ENSP00000465570:p.Asp28265Tyr					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28265Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27338Y|TTN_ENST00000460472.2_Missense_Mutation_p.D20841Y|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21033Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D20966Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.D29906Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	89940	-			28265			Fibronectin type-III 118.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89716G>T		.	.	.	.	.	.	.	.	.	.	C	16.20	3.056121	0.55325	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94525	0.8237	H	0.98769	4.325	0.80722	D	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	0.96520	0.9385	9	0.87932	D	0	.	19.5232	0.95194	0.0:1.0:0.0:0.0	.	20841;20966;21033;28265	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	27338;20841;21033;20966;20838	ENSP00000343764:D27338Y;ENSP00000434586:D20841Y;ENSP00000340554:D21033Y;ENSP00000352154:D20966Y	ENSP00000340554:D21033Y	D	-	1	0	TTN	179126157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	GAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	102	1	0	3.28513e-13	1	3.58596e-13	25	102				
PPP1R9A	55607	broad.mit.edu	37	7	94539776	94539776	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:94539776G>C	ENST00000433881.1	+	2	883	c.351G>C	c.(349-351)gaG>gaC	p.E117D	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E117D|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E117D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	117	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTAAGTTGGAGTCTTCTGTTT	0.413										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(349-351)gaG>gaC		protein phosphatase 1, regulatory subunit 9A							104.0	100.0	101.0					7																	94539776		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539776G>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.351G>C	7.37:g.94539776G>C	ENSP00000398870:p.Glu117Asp	HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E117D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E117D|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E117D	p.E117D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	567	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		117			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.351G>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703084	0.30232	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.66	4.78	0.61160	.	0.109128	0.64402	D	0.000006	D	0.93739	0.7999	L	0.50919	1.6	0.39877	D	0.973581	P;D;D;D;P	0.60160	0.952;0.974;0.987;0.958;0.799	P;P;P;P;B	0.57776	0.53;0.719;0.827;0.45;0.318	D	0.93250	0.6634	9	.	.	.	.	11.6039	0.51020	0.155:0.0:0.845:0.0	.	117;117;117;117;117	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	D	117	ENSP00000405514:E117D;ENSP00000344524:E117D;ENSP00000411342:E117D;ENSP00000398870:E117D;ENSP00000289495:E117D;ENSP00000402893:E117D	.	E	+	3	2	PPP1R9A	94377712	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.852000	0.55934	1.532000	0.49169	0.591000	0.81541	GAG		0.413	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		18	99	0	0	0	1	0	18	99				
DNMT3B	1789	broad.mit.edu	37	20	31375191	31375191	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:31375191G>T	ENST00000328111.2	+	6	909	c.588G>T	c.(586-588)caG>caT	p.Q196H	DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q208H|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q120H|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q154H|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q196H|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000375623.4_Missense_Mutation_p.Q154H	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	196	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGACAGCCAGCAGGGGGGCA	0.627																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(586-588)caG>caT		DNA (cytosine-5-)-methyltransferase 3 beta							57.0	55.0	55.0					20																	31375191		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31375191G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.588G>T	20.37:g.31375191G>T	ENSP00000328547:p.Gln196His					DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q154H|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q196H|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q196H|DNMT3B_ENST00000375623.4_Missense_Mutation_p.Q154H|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q120H|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q208H	p.Q196H	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			6	909	+			196			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.588G>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971501	0.18736	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;D;T;D	0.97279	-4.32;-4.32;-4.27;-4.25;-4.26;-4.14;-0.16;-4.32	3.79	-0.73	0.11154	.	0.780131	0.12408	N	0.471542	D	0.92267	0.7547	N	0.19112	0.55	0.27910	N	0.938661	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001;0.002	D	0.83958	0.0320	10	0.45353	T	0.12	-1.1073	12.1467	0.54028	0.0:0.0:0.3983:0.6017	.	120;154;208;196;196;196	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	H	196;282;196;196;154;120;196;154;208	ENSP00000328547:Q196H;ENSP00000313397:Q196H;ENSP00000337764:Q196H;ENSP00000403169:Q154H;ENSP00000412305:Q120H;ENSP00000345105:Q196H;ENSP00000364774:Q154H;ENSP00000201963:Q208H	ENSP00000201963:Q208H	Q	+	3	2	DNMT3B	30838852	0.019000	0.18553	0.320000	0.25306	0.085000	0.17905	-0.176000	0.09811	-0.074000	0.12820	-1.399000	0.01144	CAG		0.627	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		39	53	1	0	4.67007e-22	1	5.23188e-22	39	53				
OR52E8	390079	broad.mit.edu	37	11	5878738	5878738	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:5878738C>A	ENST00000537935.1	-	1	226	c.195G>T	c.(193-195)atG>atT	p.M65I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGTAGTACATAGGCTCAT	0.458																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(193-195)atG>atT		olfactory receptor, family 52, subfamily E, member 8							120.0	139.0	133.0					11																	5878738		2152	4296	6448	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878738C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.195G>T	11.37:g.5878738C>A	ENSP00000444054:p.Met65Ile					TRIM5_ENST00000380027.1_Intron	p.M65I	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	226	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	65					B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.195G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038192	0.35989	.	.	ENSG00000183269	ENST00000537935	T	0.09350	2.99	4.24	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.180510	0.39210	N	0.001430	T	0.39733	0.1089	H	0.97611	4.04	0.31146	N	0.706037	D	0.58268	0.982	P	0.54544	0.755	T	0.64807	-0.6320	10	0.87932	D	0	.	13.2751	0.60182	0.0:0.839:0.1609:0.0	.	65	Q6IFG1	O52E8_HUMAN	I	65	ENSP00000444054:M65I	ENSP00000444054:M65I	M	-	3	0	OR52E8	5835314	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	3.745000	0.55119	1.143000	0.42306	-0.234000	0.12200	ATG		0.458	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		84	51	1	0	3.1376e-36	1	3.59618e-36	84	51				
FAM160B1	57700	broad.mit.edu	37	10	116620577	116620577	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:116620577C>A	ENST00000369248.4	+	15	2352	c.2017C>A	c.(2017-2019)Cac>Aac	p.H673N	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H673N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	673										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCCACACATCCACGAGTACCT	0.403																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(2017-2019)Cac>Aac		family with sequence similarity 160, member B1							297.0	269.0	278.0					10																	116620577		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116620577C>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2017C>A	10.37:g.116620577C>A	ENSP00000358251:p.His673Asn					FAM160B1_ENST00000369250.3_Missense_Mutation_p.H673N	p.H673N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			15	2352	+			673					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.2017C>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362887	0.82353	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000411414	T;T;T	0.51325	0.71;0.71;0.71	5.05	5.05	0.67936	.	0.045700	0.85682	D	0.000000	T	0.50803	0.1637	L	0.41906	1.305	0.80722	D	1	B;B	0.31485	0.325;0.153	B;B	0.42386	0.386;0.036	T	0.49799	-0.8901	10	0.40728	T	0.16	-17.1245	18.4261	0.90610	0.0:1.0:0.0:0.0	.	673;673	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	N	673;673;10	ENSP00000358251:H673N;ENSP00000358253:H673N;ENSP00000411924:H10N	ENSP00000358251:H673N	H	+	1	0	FAM160B1	116610567	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	4.805000	0.62561	2.344000	0.79699	0.563000	0.77884	CAC		0.403	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		6	195	1	0	0.0215528	1	0.0220712	6	195				
SP100	6672	broad.mit.edu	37	2	231380302	231380302	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:231380302G>A	ENST00000264052.5	+	25	2942	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	863	Poly-Glu.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ggaagaggaagaagatgaaga	0.353																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2587-2589)Gaa>Aaa		SP100 nuclear antigen							16.0	16.0	16.0					2																	231380302		2203	4298	6501	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380302G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2587G>A	2.37:g.231380302G>A	ENSP00000264052:p.Glu863Lys					SP100_ENST00000340126.4_Intron	p.E863K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2942	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	863			Poly-Glu.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2587G>A	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595368	0.28445	.	.	ENSG00000067066	ENST00000264052	T	0.18016	2.24	0.158	0.158	0.14942	.	.	.	.	.	T	0.08133	0.0203	N	0.20685	0.6	0.80722	D	1	P	0.42584	0.784	B	0.33690	0.168	T	0.24368	-1.0162	9	0.87932	D	0	.	6.0348	0.19702	5.0E-4:0.0:0.9995:0.0	.	863	P23497	SP100_HUMAN	K	863	ENSP00000264052:E863K	ENSP00000264052:E863K	E	+	1	0	SP100	231088546	1.000000	0.71417	0.495000	0.27527	0.495000	0.33615	6.393000	0.73217	0.202000	0.20498	0.205000	0.17691	GAA		0.353	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		11	8	0	0	0	1	0	11	8				
RCAN2	10231	broad.mit.edu	37	6	46293251	46293251	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:46293251A>T	ENST00000330430.6	-	0	154				RCAN2_ENST00000306764.7_Intron|RCAN2_ENST00000405162.1_Intron|RCAN2_ENST00000371374.1_Intron	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2						calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GAGTTAGGCAACCTCAGAGTT	0.557																																						ENST00000330430.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8								regulator of calcineurin 2							36.0	38.0	38.0					6																	46293251		1906	4116	6022			10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46293251A>T	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.-35T>A	6.37:g.46293251A>T						RCAN2_ENST00000371374.1_Intron|RCAN2_ENST00000306764.7_Intron|RCAN2_ENST00000405162.1_Intron		NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN			0	154	-								A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Translation_Start_Site	SNP	ENST00000330430.6	37		CCDS43469.1																																																																																				0.557	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			19	34	0	0	0	1	0	19	34				
C5orf42	65250	broad.mit.edu	37	5	37180155	37180155	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:37180155C>G	ENST00000508244.1	-	27	5794	c.5701G>C	c.(5701-5703)Gaa>Caa	p.E1901Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1901Q|C5orf42_ENST00000274258.7_Missense_Mutation_p.E781Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1901						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTTCCTCTTCTGTAAATGCT	0.239																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(2341-2343)Gaa>Caa		chromosome 5 open reading frame 42							61.0	67.0	65.0					5																	37180155		2184	4271	6455	SO:0001583	missense	65250							g.chr5:37180155C>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5701G>C	5.37:g.37180155C>G	ENSP00000421690:p.Glu1901Gln					C5orf42_ENST00000425232.2_Missense_Mutation_p.E1901Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1901Q	p.E781Q			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		28	5928	-	all_lung(31;0.000616)		1901					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.2341G>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	4.301	0.055170	0.08291	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.21361	2.01;2.01;2.02;2.01	5.72	3.94	0.45596	.	0.614680	0.13522	N	0.381632	T	0.05318	0.0141	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34800	-0.9814	10	0.02654	T	1	.	9.115	0.36753	0.0:0.1439:0.5612:0.2949	.	1901;781	E9PH94;Q9H799	.;CE042_HUMAN	Q	1901;1901;781;949;781	ENSP00000421690:E1901Q;ENSP00000389014:E1901Q;ENSP00000274258:E781Q;ENSP00000424223:E949Q	ENSP00000274258:E781Q	E	-	1	0	C5orf42	37215912	0.029000	0.19370	0.020000	0.16555	0.400000	0.30750	0.562000	0.23531	0.789000	0.33779	-0.783000	0.03347	GAA		0.239	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		9	29	0	0	0	1	0	9	29				
NRCAM	4897	broad.mit.edu	37	7	107823215	107823215	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:107823215C>T	ENST00000425651.2	-	20	2453	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	NRCAM_ENST00000379022.4_Silent_p.L818L|NRCAM_ENST00000413765.2_Silent_p.L799L|NRCAM_ENST00000379028.3_Silent_p.L818L|NRCAM_ENST00000379024.4_Silent_p.L799L|NRCAM_ENST00000351718.4_Silent_p.L802L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	818	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAACTTTGATCAGGTATGGAA	0.483																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2452-2454)ctG>ctA		neuronal cell adhesion molecule							99.0	94.0	95.0					7																	107823215		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107823215C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2454G>A	7.37:g.107823215C>T						NRCAM_ENST00000351718.4_Silent_p.L802L|NRCAM_ENST00000413765.2_Silent_p.L799L|NRCAM_ENST00000379022.4_Silent_p.L818L|NRCAM_ENST00000379024.4_Silent_p.L799L|NRCAM_ENST00000425651.2_Silent_p.L818L	p.L818L			Q92823	NRCAM_HUMAN			23	2924	-			818			Fibronectin type-III 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.2454G>A	CCDS47686.1																																																																																				0.483	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		27	43	0	0	0	1	0	27	43				
PAPPA2	60676	broad.mit.edu	37	1	176526263	176526263	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:176526263C>T	ENST00000367662.3	+	2	1969	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R269W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	269					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCTGGGAGGCGGGAGCGGCT	0.577																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(805-807)Cgg>Tgg		pappalysin 2							43.0	43.0	43.0					1																	176526263		1905	4139	6044	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526263C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.805C>T	1.37:g.176526263C>T	ENSP00000356634:p.Arg269Trp					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R269W	p.R269W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1969	+			269					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.805C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688205	0.68271	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.74002	-0.8;-0.8	4.58	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.272559	0.29684	N	0.011466	T	0.81531	0.4842	L	0.59436	1.845	0.35604	D	0.808141	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.963	D	0.84883	0.0832	10	0.66056	D	0.02	-15.5241	9.6815	0.40072	0.3914:0.6086:0.0:0.0	.	269;269	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	W	269	ENSP00000356634:R269W;ENSP00000356633:R269W	ENSP00000356633:R269W	R	+	1	2	PAPPA2	174792886	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.065000	0.30592	0.861000	0.35504	0.313000	0.20887	CGG		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	34	0	0	0	1	0	32	34				
LRP1B	53353	broad.mit.edu	37	2	141625742	141625742	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:141625742G>A	ENST00000389484.3	-	26	5231	c.4260C>T	c.(4258-4260)gaC>gaT	p.D1420D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1420					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTCATGTCTTTATAGA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4258-4260)gaC>gaT		low density lipoprotein receptor-related protein 1B							106.0	100.0	102.0					2																	141625742		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625742G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4260C>T	2.37:g.141625742G>A		TSP Lung(27;0.18)					p.D1420D	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	26	5231	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1420					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4260C>T	CCDS2182.1																																																																																				0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	38	0	0	0	1	0	21	38				
POLR2B	5431	broad.mit.edu	37	4	57861015	57861015	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:57861015A>G	ENST00000381227.1	+	6	972	c.559A>G	c.(559-561)Att>Gtt	p.I187V	snoU13_ENST00000459266.1_RNA|POLR2B_ENST00000314595.5_Missense_Mutation_p.I187V|POLR2B_ENST00000431623.2_Missense_Mutation_p.I112V|POLR2B_ENST00000441246.2_Missense_Mutation_p.I180V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	187					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTATTTCATTATTAATGGATC	0.284																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(559-561)Att>Gtt		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							59.0	62.0	61.0					4																	57861015		2185	4298	6483	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57861015A>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.559A>G	4.37:g.57861015A>G	ENSP00000370625:p.Ile187Val					POLR2B_ENST00000314595.5_Missense_Mutation_p.I187V|POLR2B_ENST00000441246.2_Missense_Mutation_p.I180V|POLR2B_ENST00000431623.2_Missense_Mutation_p.I112V	p.I187V			P30876	RPB2_HUMAN			6	972	+	Glioma(25;0.08)|all_neural(26;0.181)		187					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.559A>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022545	0.75275	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.48	5.48	0.80851	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.33710	1.025	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.87578	0.998;0.998	T	0.59402	-0.7461	10	0.17369	T	0.5	.	15.8594	0.79009	1.0:0.0:0.0:0.0	.	112;187	C9J4M6;P30876	.;RPB2_HUMAN	V	187;112;180;187	ENSP00000370625:I187V;ENSP00000391096:I112V;ENSP00000391452:I180V;ENSP00000312735:I187V	ENSP00000312735:I187V	I	+	1	0	POLR2B	57555772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.160000	0.94734	2.211000	0.71520	0.460000	0.39030	ATT		0.284	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		24	16	0	0	0	1	0	24	16				
RBBP8NL	140893	broad.mit.edu	37	20	60989012	60989012	+	Silent	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:60989012G>C	ENST00000252998.1	-	10	1551	c.1395C>G	c.(1393-1395)ctC>ctG	p.L465L		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	465						extracellular space (GO:0005615)											CGGCAGGGCTGAGTGACCCAT	0.711																																						ENST00000252998.1																			0											c.(1393-1395)ctC>ctG		RBBP8 N-terminal like							10.0	9.0	9.0					20																	60989012		2153	4232	6385	SO:0001819	synonymous_variant	140893							g.chr20:60989012G>C	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1395C>G	20.37:g.60989012G>C							p.L465L	NM_080833.2	NP_543023.2					10	1551	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	c.1395C>G	CCDS13498.1																																																																																				0.711	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		5	7	0	0	0	1	0	5	7				
MKI67	4288	broad.mit.edu	37	10	129907334	129907334	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:129907334C>T	ENST00000368654.3	-	13	3145	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.E564K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	924					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTCTATTTCCTTCATCTCT	0.348																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(2770-2772)Gaa>Aaa		marker of proliferation Ki-67							145.0	139.0	141.0					10																	129907334		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907334C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2770G>A	10.37:g.129907334C>T	ENSP00000357643:p.Glu924Lys					MKI67_ENST00000368653.3_Missense_Mutation_p.E564K	p.E924K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3145	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	924					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.2770G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586712	0.28268	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01572	4.81;4.76	3.83	2.84	0.33178	.	1.176860	0.06329	N	0.705851	T	0.01592	0.0051	L	0.27053	0.805	0.09310	N	1	P;P;P	0.47409	0.736;0.582;0.895	B;B;B	0.41332	0.207;0.207;0.354	T	0.21143	-1.0254	10	0.05959	T	0.93	.	7.3765	0.26831	0.0:0.8613:0.0:0.1387	.	923;564;924	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	924;564;923	ENSP00000357643:E924K;ENSP00000357642:E564K	ENSP00000357642:E564K	E	-	1	0	MKI67	129797324	0.040000	0.19996	0.019000	0.16419	0.044000	0.14063	1.039000	0.30266	0.862000	0.35528	0.563000	0.77884	GAA		0.348	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		20	65	0	0	0	1	0	20	65				
ZNF516	9658	broad.mit.edu	37	18	74154314	74154314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:74154314C>A	ENST00000443185.2	-	3	1014	c.697G>T	c.(697-699)Gag>Tag	p.E233*	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACGCAGGCCTCGCCGCTGCCG	0.687																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(697-699)Gag>Tag		zinc finger protein 516							12.0	15.0	14.0					18																	74154314		2075	4205	6280	SO:0001587	stop_gained	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154314C>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.697G>T	18.37:g.74154314C>A	ENSP00000394757:p.Glu233*					ZNF516_ENST00000524431.2_5'UTR	p.E233*	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1014	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	233						Nonsense_Mutation	SNP	ENST00000443185.2	37	c.697G>T		.	.	.	.	.	.	.	.	.	.	C	19.45	3.830553	0.71258	.	.	ENSG00000101493	ENST00000443185	.	.	.	3.51	3.51	0.40186	.	4.636590	0.01015	N	0.003895	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-2.5438	10.8672	0.46862	0.0:1.0:0.0:0.0	.	.	.	.	X	233	.	ENSP00000394757:E233X	E	-	1	0	ZNF516	72283302	0.821000	0.29204	0.001000	0.08648	0.202000	0.24057	3.478000	0.53158	2.269000	0.75478	0.563000	0.77884	GAG		0.687	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		4	4	1	0	1	1	1	4	4				
SHC3	53358	broad.mit.edu	37	9	91653097	91653097	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:91653097C>G	ENST00000375835.4	-	11	1773	c.1467G>C	c.(1465-1467)aaG>aaC	p.K489N	SHC3_ENST00000375831.1_Missense_Mutation_p.K37N|SHC3_ENST00000375830.1_Missense_Mutation_p.K37N	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	489	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCTCCAGCATCTTGGCATCTG	0.577																																						ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1465-1467)aaG>aaC		SHC (Src homology 2 domain containing) transforming protein 3							166.0	165.0	165.0					9																	91653097		2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91653097C>G	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1467G>C	9.37:g.91653097C>G	ENSP00000364995:p.Lys489Asn					SHC3_ENST00000375830.1_Missense_Mutation_p.K37N|SHC3_ENST00000375831.1_Missense_Mutation_p.K37N	p.K489N	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			11	1773	-			489			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1467G>C	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230043	0.22542	.	.	ENSG00000148082	ENST00000375835;ENST00000375831;ENST00000375830	T;T;T	0.63255	-0.03;-0.03;-0.03	5.15	1.2	0.21068	.	0.587759	0.18367	N	0.143393	T	0.41971	0.1182	L	0.36672	1.1	0.09310	N	1	B	0.30763	0.294	B	0.30716	0.119	T	0.14980	-1.0453	10	0.27785	T	0.31	-35.6747	0.813	0.01097	0.1496:0.2973:0.257:0.2961	.	489	Q92529	SHC3_HUMAN	N	489;37;37	ENSP00000364995:K489N;ENSP00000364991:K37N;ENSP00000364990:K37N	ENSP00000364990:K37N	K	-	3	2	SHC3	90842917	0.044000	0.20184	0.992000	0.48379	0.630000	0.37929	0.224000	0.17738	0.403000	0.25479	0.591000	0.81541	AAG		0.577	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		60	144	0	0	0	1	0	60	144				
SPEN	23013	broad.mit.edu	37	1	16256092	16256092	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:16256092A>T	ENST00000375759.3	+	11	3561	c.3357A>T	c.(3355-3357)ttA>ttT	p.L1119F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1119					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAGGTATTAGATGATCAAG	0.428																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(3355-3357)ttA>ttT		spen family transcriptional repressor							36.0	38.0	38.0					1																	16256092		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16256092A>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3357A>T	1.37:g.16256092A>T	ENSP00000364912:p.Leu1119Phe						p.L1119F	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	3561	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1119					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.3357A>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	1.031	-0.681714	0.03353	.	.	ENSG00000065526	ENST00000375759	T	0.09630	2.96	5.2	1.48	0.22813	.	.	.	.	.	T	0.10165	0.0249	L	0.60455	1.87	0.28571	N	0.91061	P	0.45283	0.855	B	0.39068	0.289	T	0.17440	-1.0369	9	0.46703	T	0.11	-3.4397	4.5674	0.12193	0.5751:0.0:0.2878:0.1371	.	1119	Q96T58	MINT_HUMAN	F	1119	ENSP00000364912:L1119F	ENSP00000364912:L1119F	L	+	3	2	SPEN	16128679	0.007000	0.16637	0.579000	0.28588	0.448000	0.32197	0.182000	0.16900	0.079000	0.16929	0.528000	0.53228	TTA		0.428	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		20	29	0	0	0	1	0	20	29				
TBC1D22B	55633	broad.mit.edu	37	6	37247260	37247260	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:37247260C>T	ENST00000373491.3	+	3	440	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	98							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CAACTGCAGCCCAAGTTCTAG	0.478																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(292-294)gcC>gcT		TBC1 domain family, member 22B							104.0	101.0	102.0					6																	37247260		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37247260C>T	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.294C>T	6.37:g.37247260C>T							p.A98A	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		3	440	+			98					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.294C>T	CCDS4832.1																																																																																				0.478	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		46	91	0	0	0	1	0	46	91				
PACS1	55690	broad.mit.edu	37	11	66006744	66006744	+	Missense_Mutation	SNP	G	G	A	rs369934909		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:66006744G>A	ENST00000320580.4	+	21	2458	c.2425G>A	c.(2425-2427)Gtg>Atg	p.V809M	PACS1_ENST00000524815.1_5'Flank|PACS1_ENST00000529757.1_Missense_Mutation_p.V345M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	809					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCTGGCCATCGTGGGGTAAGG	0.657																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(2425-2427)Gtg>Atg		phosphofurin acidic cluster sorting protein 1		G	MET/VAL	1,4399	2.1+/-5.4	0,1,2199	71.0	57.0	62.0		2425	-0.6	0.0	11		62	0,8590		0,0,4295	no	missense	PACS1	NM_018026.2	21	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	benign	809/964	66006744	1,12989	2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66006744G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2425G>A	11.37:g.66006744G>A	ENSP00000316454:p.Val809Met					PACS1_ENST00000529757.1_Missense_Mutation_p.V345M	p.V809M	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			21	2458	+			809					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.2425G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130932	0.06753	2.27E-4	0.0	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.44482	0.92;0.92	4.94	-0.598	0.11649	.	0.949205	0.08925	N	0.873810	T	0.21227	0.0511	N	0.12182	0.205	0.37300	D	0.908641	B	0.19331	0.035	B	0.14578	0.011	T	0.12372	-1.0550	10	0.30078	T	0.28	-4.7129	5.1324	0.14917	0.4882:0.152:0.3598:0.0	.	809	Q6VY07	PACS1_HUMAN	M	809;345	ENSP00000316454:V809M;ENSP00000432858:V345M	ENSP00000316454:V809M	V	+	1	0	PACS1	65763320	0.078000	0.21339	0.044000	0.18714	0.144000	0.21451	0.127000	0.15790	-0.312000	0.08741	-0.266000	0.10368	GTG		0.657	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		25	42	0	0	0	1	0	25	42				
RET	5979	broad.mit.edu	37	10	43600624	43600624	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr10:43600624G>C	ENST00000355710.3	+	4	1082	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RET_ENST00000340058.5_Missense_Mutation_p.E284Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	284					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGCCGTGGTGGAGTTCAAGCG	0.652		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(850-852)Gag>Cag		ret proto-oncogene	Sunitinib(DB01268)						44.0	38.0	40.0					10																	43600624		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43600624G>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.850G>C	10.37:g.43600624G>C	ENSP00000347942:p.Glu284Gln					RET_ENST00000340058.5_Missense_Mutation_p.E284Q	p.E284Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			4	1082	+		Ovarian(717;0.0423)	284					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.850G>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	17.67	3.446107	0.63178	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80738	-1.29;-1.41	4.95	3.07	0.35406	.	0.487974	0.25520	N	0.030101	T	0.76955	0.4060	L	0.55481	1.735	0.34986	D	0.754585	B;B;B	0.30511	0.282;0.134;0.21	B;B;B	0.35607	0.081;0.101;0.206	T	0.79683	-0.1701	10	0.66056	D	0.02	.	9.9916	0.41874	0.0762:0.1388:0.785:0.0	.	30;284;284	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Q	284	ENSP00000347942:E284Q;ENSP00000344798:E284Q	ENSP00000344798:E284Q	E	+	1	0	RET	42920630	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	1.299000	0.33424	0.660000	0.30964	0.556000	0.70494	GAG		0.652	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		11	27	0	0	0	1	0	11	27				
AHDC1	27245	broad.mit.edu	37	1	27878171	27878171	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:27878171C>T	ENST00000247087.5	-	5	1052	c.456G>A	c.(454-456)ctG>ctA	p.L152L	AHDC1_ENST00000374011.2_Silent_p.L152L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	152	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCGGGCGGCTCAGTCGGAGCC	0.632																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(454-456)ctG>ctA		AT hook, DNA binding motif, containing 1							97.0	97.0	97.0					1																	27878171		2203	4300	6503	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27878171C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.456G>A	1.37:g.27878171C>T						AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Silent_p.L152L	p.L152L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1424	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	152			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.456G>A	CCDS30652.1																																																																																				0.632	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			43	104	0	0	0	1	0	43	104				
TRIM26	7726	broad.mit.edu	37	6	30166570	30166570	+	Missense_Mutation	SNP	C	C	T	rs144770536		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:30166570C>T	ENST00000454678.2	-	4	747	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R104Q|TRIM26_ENST00000437089.1_Missense_Mutation_p.R104Q	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	104					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CTCTCGGTGTCGCTCGCACAA	0.647																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(310-312)cGa>cAa		tripartite motif containing 26		C	GLN/ARG,GLN/ARG	0,3018		0,0,1509	92.0	80.0	85.0		311,311	4.6	1.0	6	dbSNP_134	85	1,5415		0,1,2707	no	missense,missense	TRIM26	NM_001242783.1,NM_003449.4	43,43	0,1,4216	TT,TC,CC		0.0185,0.0,0.0119	possibly-damaging,possibly-damaging	104/540,104/540	30166570	1,8433	1509	2708	4217	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166570C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.311G>A	6.37:g.30166570C>T	ENSP00000410446:p.Arg104Gln					TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Missense_Mutation_p.R104Q|TRIM26_ENST00000437089.1_Missense_Mutation_p.R104Q	p.R104Q	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			4	747	-			104					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.311G>A	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272733	0.40194	0.0	1.85E-4	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.64	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.000000	0.41500	D	0.000865	T	0.10380	0.0254	N	0.05078	-0.115	0.25824	N	0.984254	P	0.50369	0.934	B	0.39503	0.301	T	0.07424	-1.0773	10	0.24483	T	0.36	.	15.0707	0.72034	0.0:1.0:0.0:0.0	.	104	Q12899	TRI26_HUMAN	Q	104	ENSP00000391879:R104Q;ENSP00000410446:R104Q;ENSP00000395491:R104Q;ENSP00000413673:R104Q;ENSP00000387530:R104Q;ENSP00000400920:R104Q	ENSP00000413673:R104Q	R	-	2	0	TRIM26	30274549	0.029000	0.19370	0.998000	0.56505	0.551000	0.35334	1.997000	0.40786	2.410000	0.81850	0.579000	0.79373	CGA		0.647	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		8	63	0	0	0	1	0	8	63				
ARPP19	10776	broad.mit.edu	37	15	52849391	52849391	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:52849391T>A	ENST00000566423.1	-	3	207	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000561650.1_Missense_Mutation_p.E9V|ARPP19_ENST00000568196.1_Missense_Mutation_p.E9V|ARPP19_ENST00000249822.4_Missense_Mutation_p.E25V|ARPP19_ENST00000565288.1_5'Flank|ARPP19_ENST00000567669.1_Missense_Mutation_p.E25V|ARPP19_ENST00000563277.1_Missense_Mutation_p.E9V|ARPP19_ENST00000564163.1_Missense_Mutation_p.E44V|ARPP19_ENST00000569281.2_Missense_Mutation_p.E25V|ARPP19_ENST00000561971.1_Missense_Mutation_p.E44V|ARPP19_ENST00000563566.1_Missense_Mutation_p.E9V			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	25					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCTGCTTTCTCTGGACTAGT	0.323																																						ENST00000566423.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(73-75)gAg>gTg		cAMP-regulated phosphoprotein, 19kDa							89.0	88.0	88.0					15																	52849391		2194	4293	6487	SO:0001583	missense	10776				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	g.chr15:52849391T>A	AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"""endosulfine alpha-like"""	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.74A>T	15.37:g.52849391T>A	ENSP00000455625:p.Glu25Val					ARPP19_ENST00000563566.1_Missense_Mutation_p.E9V|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000569281.2_Missense_Mutation_p.E25V|ARPP19_ENST00000563277.1_Missense_Mutation_p.E9V|ARPP19_ENST00000567669.1_Missense_Mutation_p.E25V|ARPP19_ENST00000561650.1_Missense_Mutation_p.E9V|ARPP19_ENST00000561971.1_Missense_Mutation_p.E44V|ARPP19_ENST00000249822.4_Missense_Mutation_p.E25V|ARPP19_ENST00000564163.1_Missense_Mutation_p.E44V|ARPP19_ENST00000568196.1_Missense_Mutation_p.E9V	p.E25V			P56211	ARP19_HUMAN			3	207	-			25					B2R497|Q6IAM2|Q86TA6|Q9UD70	Missense_Mutation	SNP	ENST00000566423.1	37	c.74A>T	CCDS32242.1	.	.	.	.	.	.	.	.	.	.	.	19.27	3.795735	0.70452	.	.	ENSG00000128989	ENST00000249822	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.64404	1.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.78802	-0.2061	9	0.66056	D	0.02	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	25	P56211	ARP19_HUMAN	V	25	.	ENSP00000249822:E25V	E	-	2	0	ARPP19	50636683	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAG		0.323	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419834.1	NM_006628		12	61	0	0	0	1	0	12	61				
ARNT2	9915	broad.mit.edu	37	15	80872870	80872870	+	Missense_Mutation	SNP	C	C	G	rs144530385		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:80872870C>G	ENST00000303329.4	+	16	1897	c.1732C>G	c.(1732-1734)Cgt>Ggt	p.R578G	hsa-mir-5572_ENST00000583188.1_RNA|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567G|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.R567G	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	578					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACAGGGAGTCGTCCGCCCTT	0.567																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1699-1701)Cgt>Ggt		aryl-hydrocarbon receptor nuclear translocator 2							82.0	72.0	75.0					15																	80872870		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80872870C>G	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1732C>G	15.37:g.80872870C>G	ENSP00000307479:p.Arg578Gly					RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Missense_Mutation_p.R578G|ARNT2_ENST00000527771.1_Missense_Mutation_p.R567G	p.R567G			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		17	2038	+			578					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1699C>G	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375824	0.42105	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.59083	0.29	5.02	5.02	0.67125	.	0.205292	0.42682	D	0.000679	T	0.58395	0.2119	M	0.62723	1.935	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.58487	-0.7628	10	0.59425	D	0.04	.	18.32	0.90234	0.0:1.0:0.0:0.0	.	578	Q9HBZ2	ARNT2_HUMAN	G	567;578	ENSP00000307479:R578G	ENSP00000307479:R578G	R	+	1	0	ARNT2	78659925	1.000000	0.71417	0.843000	0.33291	0.433000	0.31745	3.852000	0.55934	2.328000	0.79073	0.561000	0.74099	CGT		0.567	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			19	53	0	0	0	1	0	19	53				
ZNF844	284391	broad.mit.edu	37	19	12186814	12186814	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:12186814C>T	ENST00000439326.3	+	4	1054	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	293					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCAGATGGTTCCATTCCTTTC	0.403																																						ENST00000439326.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(877-879)ttC>ttT		zinc finger protein 844							59.0	54.0	56.0					19																	12186814		692	1591	2283	SO:0001819	synonymous_variant	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12186814C>T	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.879C>T	19.37:g.12186814C>T						ZNF844_ENST00000441304.2_3'UTR	p.F293F	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1054	+			293					Q5JPI8	Silent	SNP	ENST00000439326.3	37	c.879C>T	CCDS45985.1																																																																																				0.403	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			6	11	0	0	0	1	0	6	11				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-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 peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	63	0	0	0	1	0	7	63				
XRN2	22803	broad.mit.edu	37	20	21324757	21324757	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:21324757C>A	ENST00000377191.3	+	16	1535	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	XRN2_ENST00000430571.2_Missense_Mutation_p.F404L|XRN2_ENST00000539513.1_Missense_Mutation_p.F426L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	480					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATACGAGTTTCACATCTGATG	0.418																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(1438-1440)ttC>ttA		5'-3' exoribonuclease 2							155.0	141.0	146.0					20																	21324757		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21324757C>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1440C>A	20.37:g.21324757C>A	ENSP00000366396:p.Phe480Leu					XRN2_ENST00000430571.2_Missense_Mutation_p.F404L|XRN2_ENST00000539513.1_Missense_Mutation_p.F426L	p.F480L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			16	1535	+			480					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.1440C>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638456	0.29157	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.73575	-0.76;-0.76;-0.76	5.48	3.54	0.40534	.	0.673781	0.16462	N	0.213378	T	0.44953	0.1318	N	0.03194	-0.395	0.37447	D	0.914644	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	10	0.07175	T	0.84	-11.3281	7.1966	0.25855	0.0:0.7061:0.1392:0.1548	.	480	Q9H0D6	XRN2_HUMAN	L	480;404;426	ENSP00000366396:F480L;ENSP00000413548:F404L;ENSP00000441113:F426L	ENSP00000366396:F480L	F	+	3	2	XRN2	21272757	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.302000	0.33459	0.758000	0.33059	-0.142000	0.14014	TTC		0.418	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		55	81	1	0	4.25531e-23	1	4.78522e-23	55	81				
KIF7	374654	broad.mit.edu	37	15	90176070	90176070	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:90176070T>A	ENST00000394412.3	-	14	2952	c.2876A>T	c.(2875-2877)aAg>aTg	p.K959M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	959					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCTCAGGCGCTTGCTCTCCAG	0.657																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2875-2877)aAg>aTg		kinesin family member 7							28.0	27.0	28.0					15																	90176070		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90176070T>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2876A>T	15.37:g.90176070T>A	ENSP00000377934:p.Lys959Met						p.K959M	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		14	2952	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		959					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2876A>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492409	0.64074	.	.	ENSG00000166813	ENST00000394412	T	0.36878	1.23	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.919;0.998	T	0.63413	-0.6643	10	0.52906	T	0.07	.	14.9858	0.71348	0.0:0.0:0.0:1.0	.	445;959	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	959	ENSP00000377934:K959M	ENSP00000377934:K959M	K	-	2	0	KIF7	87977074	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.966000	0.87956	2.007000	0.58848	0.460000	0.39030	AAG		0.657	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		9	25	0	0	0	1	0	9	25				
MEX3D	399664	broad.mit.edu	37	19	1556195	1556195	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:1556195G>A	ENST00000402693.4	-	2	1322	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA|MEX3D_ENST00000388824.6_Silent_p.A441A	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	441					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCACCGGGGCACCGGGAC	0.776																																						ENST00000402693.4																			0				endometrium(1)|lung(3)	4						c.(1321-1323)gcC>gcT		mex-3 RNA binding family member D							2.0	2.0	2.0					19																	1556195		1178	2815	3993	SO:0001819	synonymous_variant	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556195G>A	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.1323C>T	19.37:g.1556195G>A						MEX3D_ENST00000388824.6_Silent_p.A441A	p.A441A	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1322	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	441					A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	ENST00000402693.4	37	c.1323C>T	CCDS32865.2																																																																																				0.776	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		3	8	0	0	0	1	0	3	8				
PGK2	5232	broad.mit.edu	37	6	49754424	49754424	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:49754424G>T	ENST00000304801.3	-	1	629	c.477C>A	c.(475-477)gaC>gaA	p.D159E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	159					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGACATAGACGTCCCCTAGCT	0.488																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(475-477)gaC>gaA		phosphoglycerate kinase 2							109.0	105.0	106.0					6																	49754424		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754424G>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.477C>A	6.37:g.49754424G>T	ENSP00000305995:p.Asp159Glu						p.D159E	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	629	-	Lung NSC(77;0.0402)		159					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.477C>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277497	0.23307	.	.	ENSG00000170950	ENST00000304801	D	0.95272	-3.66	4.09	-1.04	0.10068	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.66297	2.02	0.44366	D	0.997269	D	0.71674	0.998	D	0.77557	0.99	D	0.91698	0.5371	10	0.51188	T	0.08	-29.9265	8.2512	0.31724	0.6127:0.0:0.3873:0.0	.	159	P07205	PGK2_HUMAN	E	159	ENSP00000305995:D159E	ENSP00000305995:D159E	D	-	3	2	PGK2	49862383	0.995000	0.38212	0.008000	0.14137	0.051000	0.14879	0.973000	0.29422	-0.166000	0.10890	-0.482000	0.04802	GAC		0.488	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			42	75	1	0	2.59497e-14	1	2.84302e-14	42	75				
UHRF1BP1L	23074	broad.mit.edu	37	12	100491278	100491278	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:100491278C>G	ENST00000279907.7	-	6	746	c.534G>C	c.(532-534)ttG>ttC	p.L178F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L178F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	178										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTAAAAGTCAAAACCTAAG	0.323																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(532-534)ttG>ttC		UHRF1 binding protein 1-like							86.0	83.0	84.0					12																	100491278		2201	4300	6501	SO:0001583	missense	23074							g.chr12:100491278C>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.534G>C	12.37:g.100491278C>G	ENSP00000279907:p.Leu178Phe					UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L178F	p.L178F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			6	746	-			178					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.534G>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460508	0.63513	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	T;T	0.37584	2.45;1.19	5.45	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.59904	-0.7366	10	0.66056	D	0.02	-7.1509	9.5406	0.39248	0.0:0.7632:0.0:0.2368	.	178;178	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	F	178	ENSP00000279907:L178F;ENSP00000349285:L178F	ENSP00000279907:L178F	L	-	3	2	UHRF1BP1L	99015409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.424000	0.34848	0.724000	0.32296	0.655000	0.94253	TTG		0.323	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		26	33	0	0	0	1	0	26	33				
MAST1	22983	broad.mit.edu	37	19	12981863	12981863	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:12981863T>A	ENST00000251472.4	+	24	3179	c.3140T>A	c.(3139-3141)gTa>gAa	p.V1047E	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCAACAAGGTAGCAGTGACC	0.602																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(3139-3141)gTa>gAa		microtubule associated serine/threonine kinase 1							98.0	98.0	98.0					19																	12981863		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12981863T>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3140T>A	19.37:g.12981863T>A	ENSP00000251472:p.Val1047Glu						p.V1047E	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			24	3179	+			1047			PDZ.			Missense_Mutation	SNP	ENST00000251472.4	37	c.3140T>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541457	0.85917	.	.	ENSG00000105613	ENST00000251472	T	0.38240	1.15	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66384	-0.5937	10	0.87932	D	0	-15.8111	12.3753	0.55277	0.0:0.0:0.0:1.0	.	1047	Q9Y2H9	MAST1_HUMAN	E	1047	ENSP00000251472:V1047E	ENSP00000251472:V1047E	V	+	2	0	MAST1	12842863	1.000000	0.71417	0.959000	0.39883	0.975000	0.68041	6.299000	0.72770	1.807000	0.52817	0.379000	0.24179	GTA		0.602	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		42	115	0	0	0	1	0	42	115				
LCN12	286256	broad.mit.edu	37	9	139848183	139848183	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:139848183C>G	ENST00000371633.3	+	3	283	c.283C>G	c.(283-285)Ctg>Gtg	p.L95V	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	95					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTCTTATGTGCTGATACCGGC	0.642																																						ENST00000371633.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(283-285)Ctg>Gtg		lipocalin 12							33.0	36.0	35.0					9																	139848183		2070	4191	6261	SO:0001583	missense	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139848183C>G	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.283C>G	9.37:g.139848183C>G	ENSP00000360696:p.Leu95Val					LCN12_ENST00000466277.1_3'UTR	p.L95V	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	3	283	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	95					A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	c.283C>G	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301914	0.23736	.	.	ENSG00000184925	ENST00000371633;ENST00000371632	T;D	0.82803	3.0;-1.65	2.37	1.39	0.22231	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.27164	N	0.020630	D	0.86343	0.5910	M	0.72118	2.19	0.09310	N	1	P;P	0.43662	0.785;0.814	P;P	0.58331	0.837;0.729	T	0.76876	-0.2797	10	0.87932	D	0	-17.6388	6.0719	0.19893	0.3039:0.6961:0.0:0.0	.	95;95	Q8IW14;Q6JVE5	.;LCN12_HUMAN	V	95;29	ENSP00000360696:L95V;ENSP00000360695:L29V	ENSP00000360695:L29V	L	+	1	2	LCN12	138968004	0.005000	0.15991	0.004000	0.12327	0.246000	0.25737	0.678000	0.25277	0.499000	0.27970	0.313000	0.20887	CTG		0.642	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		4	24	0	0	0	1	0	4	24				
PAQR5	54852	broad.mit.edu	37	15	69682093	69682093	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:69682093C>T	ENST00000340965.3	+	6	1154	c.486C>T	c.(484-486)ctC>ctT	p.L162L	PAQR5_ENST00000395407.2_Silent_p.L162L|PAQR5_ENST00000561153.1_Silent_p.L162L|RP11-253M7.6_ENST00000560870.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	162					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACACCATCCTCAGCACAGGCC	0.582																																						ENST00000340965.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						c.(484-486)ctC>ctT		progestin and adipoQ receptor family member V							137.0	101.0	113.0					15																	69682093		2199	4298	6497	SO:0001819	synonymous_variant	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69682093C>T		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.486C>T	15.37:g.69682093C>T						PAQR5_ENST00000395407.2_Silent_p.L162L|PAQR5_ENST00000561153.1_Silent_p.L162L	p.L162L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN			6	1154	+			162					Q8IXU2	Silent	SNP	ENST00000340965.3	37	c.486C>T	CCDS10232.1																																																																																				0.582	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		14	50	0	0	0	1	0	14	50				
BRD4	23476	broad.mit.edu	37	19	15350601	15350601	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:15350601T>C	ENST00000263377.2	-	16	3535	c.3314A>G	c.(3313-3315)cAg>cGg	p.Q1105R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1105	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGAGGGGCTGGGGCTGGAC	0.701			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3313-3315)cAg>cGg		bromodomain containing 4							41.0	45.0	44.0					19																	15350601		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15350601T>C	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3314A>G	19.37:g.15350601T>C	ENSP00000263377:p.Gln1105Arg						p.Q1105R	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		16	3535	-			1105					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.3314A>G	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112492	0.37242	.	.	ENSG00000141867	ENST00000263377	T	0.32515	1.45	4.23	4.23	0.50019	.	0.000000	0.43747	D	0.000539	T	0.40119	0.1104	L	0.36672	1.1	0.80722	D	1	P	0.39094	0.659	P	0.55391	0.775	T	0.15464	-1.0436	10	0.35671	T	0.21	-4.5396	12.3222	0.54991	0.0:0.0:0.0:1.0	.	1105	O60885	BRD4_HUMAN	R	1105	ENSP00000263377:Q1105R	ENSP00000263377:Q1105R	Q	-	2	0	BRD4	15211601	.	.	1.000000	0.80357	0.991000	0.79684	.	.	1.531000	0.49152	0.459000	0.35465	CAG		0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		17	40	0	0	0	1	0	17	40				
MFAP3	4238	broad.mit.edu	37	5	153432536	153432536	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr5:153432536G>T	ENST00000436816.1	+	3	571	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	MFAP3_ENST00000439768.2_5'UTR|MFAP3_ENST00000322602.5_Missense_Mutation_p.D118Y	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	118	Ig-like C2-type.				extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCTTTTGATGACCGTGGGCT	0.403																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(352-354)Gac>Tac		microfibrillar-associated protein 3							227.0	221.0	223.0					5																	153432536		2203	4300	6503	SO:0001583	missense	4238					integral to membrane|plasma membrane		g.chr5:153432536G>T		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.352G>T	5.37:g.153432536G>T	ENSP00000409933:p.Asp118Tyr					MFAP3_ENST00000322602.5_Missense_Mutation_p.D118Y|MFAP3_ENST00000439768.2_5'UTR	p.D118Y	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	571	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	118			Ig-like C2-type.		B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	37	c.352G>T	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645769	0.87958	.	.	ENSG00000037749	ENST00000522782;ENST00000436816;ENST00000322602	T;T;T	0.58797	0.91;0.31;0.31	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86342	0.1705	10	0.87932	D	0	-25.049	19.8034	0.96518	0.0:0.0:1.0:0.0	.	118	P55082	MFAP3_HUMAN	Y	118	ENSP00000430852:D118Y;ENSP00000409933:D118Y;ENSP00000322956:D118Y	ENSP00000322956:D118Y	D	+	1	0	MFAP3	153412729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.561000	0.98142	2.760000	0.94817	0.655000	0.94253	GAC		0.403	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		24	164	1	0	3.08376e-08	1	3.24721e-08	24	164				
NCAM2	4685	broad.mit.edu	37	21	22656566	22656566	+	Silent	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr21:22656566A>T	ENST00000400546.1	+	3	432	c.183A>T	c.(181-183)atA>atT	p.I61I	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.I86I|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	61	Ig-like C2-type 1.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAGAGAAGATAATTTCAACAC	0.363																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(181-183)atA>atT		neural cell adhesion molecule 2							122.0	113.0	116.0					21																	22656566		1847	4094	5941	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22656566A>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.183A>T	21.37:g.22656566A>T						NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.I86I	p.I61I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	3	432	+		Lung NSC(9;0.195)	61			Ig-like C2-type 1.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.183A>T	CCDS42910.1																																																																																				0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		13	47	0	0	0	1	0	13	47				
FAM174B	400451	broad.mit.edu	37	15	93173554	93173554	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:93173554C>A	ENST00000327355.5	-	2	664	c.366G>T	c.(364-366)aaG>aaT	p.K122N	FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	122						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						ACTTGCGTGTCTTCTTTAACC	0.507																																						ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(364-366)aaG>aaT		family with sequence similarity 174, member B							109.0	102.0	104.0					15																	93173554		2059	4199	6258	SO:0001583	missense	400451					integral to membrane		g.chr15:93173554C>A		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.366G>T	15.37:g.93173554C>A	ENSP00000329040:p.Lys122Asn					FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	p.K122N	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			2	664	-			122					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.366G>T	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332580	0.60853	.	.	ENSG00000185442	ENST00000327355	T	0.63417	-0.04	5.38	2.08	0.27032	.	0.000000	0.85682	D	0.000000	T	0.73760	0.3628	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72760	-0.4196	10	0.72032	D	0.01	-13.7881	7.0401	0.25015	0.0:0.5946:0.0:0.4054	.	122	Q3ZCQ3	F174B_HUMAN	N	122	ENSP00000329040:K122N	ENSP00000329040:K122N	K	-	3	2	FAM174B	90974558	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	0.776000	0.26704	0.656000	0.30886	0.591000	0.81541	AAG		0.507	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		13	12	1	0	1.61879e-10	1	1.73525e-10	13	12				
TMEM67	91147	broad.mit.edu	37	8	94798550	94798550	+	Missense_Mutation	SNP	G	G	A	rs369219859		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:94798550G>A	ENST00000453321.3	+	13	1446	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	TMEM67_ENST00000409623.3_Missense_Mutation_p.R382Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	463					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGAGTAATTCGAGTTGCTACT	0.378																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1387-1389)cGa>cAa		transmembrane protein 67		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65.0	64.0	64.0		1145,1388	5.7	0.9	8		64	1,8599		0,1,4299	no	missense,missense	TMEM67	NM_001142301.1,NM_153704.5	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	382/915,463/996	94798550	1,13005	2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94798550G>A	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1388G>A	8.37:g.94798550G>A	ENSP00000389998:p.Arg463Gln					TMEM67_ENST00000409623.3_Missense_Mutation_p.R382Q	p.R463Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		13	1446	+	Breast(36;4.14e-07)		463					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.1388G>A	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855670	0.91355	0.0	1.16E-4	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623;ENST00000453906	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.98869	1.0765	10	0.48119	T	0.1	-10.3668	19.8273	0.96622	0.0:0.0:1.0:0.0	.	463;382;382	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	Q	360;463;382;169	ENSP00000388671:R360Q;ENSP00000389998:R463Q;ENSP00000386966:R382Q;ENSP00000403035:R169Q	ENSP00000314488:R453Q	R	+	2	0	TMEM67	94867726	1.000000	0.71417	0.937000	0.37676	0.744000	0.42396	8.157000	0.89647	2.665000	0.90641	0.655000	0.94253	CGA		0.378	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		52	39	0	0	0	1	0	52	39				
UBA7	7318	broad.mit.edu	37	3	49842758	49842758	+	Silent	SNP	G	G	A	rs1128278		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:49842758G>A	ENST00000333486.3	-	24	3180	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	1008					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		tcatagtgcagaggtgggaag	0.597																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(3022-3024)Ctg>Ttg		ubiquitin-like modifier activating enzyme 7							105.0	80.0	88.0					3																	49842758		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49842758G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.3022C>T	3.37:g.49842758G>A							p.L1008L	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	24	3180	-			1008					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.3022C>T	CCDS2805.1																																																																																				0.597	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		19	21	0	0	0	1	0	19	21				
CLEC17A	388512	broad.mit.edu	37	19	14705352	14705352	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:14705352C>A	ENST00000417570.1	+	5	339	c.301C>A	c.(301-303)Cca>Aca	p.P101T	CLEC17A_ENST00000397439.2_Missense_Mutation_p.P84T|CLEC17A_ENST00000547437.1_Missense_Mutation_p.P101T	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	101						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										ACCAAGACCTCCAAGGGCAGG	0.582																																						ENST00000547437.1																			0											c.(301-303)Cca>Aca		C-type lectin domain family 17, member A							37.0	38.0	38.0					19																	14705352		1947	4136	6083	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14705352C>A	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.301C>A	19.37:g.14705352C>A	ENSP00000393719:p.Pro101Thr					CLEC17A_ENST00000417570.1_Missense_Mutation_p.P101T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.P84T	p.P101T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			5	378	+			101					A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.301C>A	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.563473	0.45694	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62639	0.01;1.06;0.01	3.18	3.18	0.36537	.	.	.	.	.	T	0.66567	0.2802	L	0.27053	0.805	0.18873	N	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.994;0.998	T	0.55354	-0.8154	9	0.62326	D	0.03	-13.6999	10.5949	0.45331	0.0:1.0:0.0:0.0	.	101;101;101;101	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	T	101;84;101	ENSP00000450065:P101T;ENSP00000380581:P84T;ENSP00000393719:P101T	ENSP00000341620:P101T	P	+	1	0	CLEC17A	14566352	0.660000	0.27420	0.262000	0.24481	0.005000	0.04900	3.085000	0.50151	1.727000	0.51537	0.450000	0.29827	CCA		0.582	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		5	12	1	0	0.184627	1	0.186505	5	12				
TPCN2	219931	broad.mit.edu	37	11	68822238	68822238	+	Missense_Mutation	SNP	G	G	A	rs575128798		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:68822238G>A	ENST00000294309.3	+	3	325	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	TPCN2_ENST00000542467.1_Missense_Mutation_p.R75Q	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	75					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGCTTTACCGACGGTATTAC	0.602																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(223-225)cGa>cAa		two pore segment channel 2							140.0	89.0	106.0					11																	68822238		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822238G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.224G>A	11.37:g.68822238G>A	ENSP00000294309:p.Arg75Gln					TPCN2_ENST00000542467.1_Missense_Mutation_p.R75Q	p.R75Q	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	325	+			75					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.224G>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433124	0.83776	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97186	-4.25;-4.28	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	D	0.97576	0.9206	L	0.60455	1.87	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;P	0.63283	0.913;0.875	D	0.97271	0.9911	10	0.37606	T	0.19	-8.6032	17.4898	0.87700	0.0:0.0:1.0:0.0	.	75;75	E7ETX0;Q8NHX9	.;TPC2_HUMAN	Q	5;75;75	ENSP00000294309:R75Q;ENSP00000445551:R75Q	ENSP00000294309:R75Q	R	+	2	0	TPCN2	68578814	1.000000	0.71417	0.745000	0.31077	0.624000	0.37722	7.867000	0.87062	2.299000	0.77371	0.462000	0.41574	CGA		0.602	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		9	27	0	0	0	1	0	9	27				
KMT2C	58508	broad.mit.edu	37	7	151835944	151835944	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:151835944C>T	ENST00000262189.6	-	58	14798	c.14580G>A	c.(14578-14580)gtG>gtA	p.V4860V	KMT2C_ENST00000485655.2_Silent_p.V65V|KMT2C_ENST00000355193.2_Silent_p.V4917V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4860	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTCAAAAGTCACCACTTCAG	0.428																																						ENST00000355193.2																			0											c.(14749-14751)gtG>gtA		lysine (K)-specific methyltransferase 2C							153.0	145.0	148.0					7																	151835944		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151835944C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14580G>A	7.37:g.151835944C>T						KMT2C_ENST00000485655.2_Silent_p.V65V|KMT2C_ENST00000262189.6_Silent_p.V4860V	p.V4917V							59	14969	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.14751G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260160	0.23051	.	.	ENSG00000055609	ENST00000360104	.	.	.	4.89	3.03	0.35002	.	.	.	.	.	T	0.55481	0.1923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47649	-0.9101	4	.	.	.	.	7.1837	0.25786	0.0:0.5613:0.2841:0.1546	.	.	.	.	N	2417	.	.	D	-	1	0	MLL3	151466877	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.018000	0.30002	0.554000	0.29061	0.655000	0.94253	GAC		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			20	58	0	0	0	1	0	20	58				
TRIM71	131405	broad.mit.edu	37	3	32933123	32933123	+	Silent	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:32933123T>C	ENST00000383763.5	+	4	2490	c.2427T>C	c.(2425-2427)atT>atC	p.I809I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	809					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						GGCGCATCATTGTGGCGGATT	0.602																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2425-2427)atT>atC		tripartite motif containing 71, E3 ubiquitin protein ligase							95.0	101.0	99.0					3																	32933123		2057	4201	6258	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933123T>C		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.2427T>C	3.37:g.32933123T>C							p.I809I	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2490	+			809						Silent	SNP	ENST00000383763.5	37	c.2427T>C	CCDS43060.1																																																																																				0.602	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		92	51	0	0	0	1	0	92	51				
PNPLA1	285848	broad.mit.edu	37	6	36269754	36269754	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:36269754C>G	ENST00000394571.2	+	6	892	c.892C>G	c.(892-894)Cga>Gga	p.R298G	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R212G|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R203G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	298					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.R203G(1)|p.R298G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCAAGCCTTCGAGCACGGCA	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			2	Substitution - Missense(2)	p.R203G(1)|p.R298G(1)	lung(2)	breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(892-894)Cga>Gga		patatin-like phospholipase domain containing 1							72.0	71.0	71.0					6																	36269754		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36269754C>G		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.892C>G	6.37:g.36269754C>G	ENSP00000378072:p.Arg298Gly		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R212G|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R203G	p.R298G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	892	+			298					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.892C>G	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410719	0.25465	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.28255	1.84;1.84;1.62;1.62	4.92	3.01	0.34805	.	1.200700	0.06099	N	0.665029	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B	0.26483	0.026;0.15	B;B	0.29176	0.018;0.099	T	0.36016	-0.9765	10	0.23302	T	0.38	-0.1868	5.4581	0.16602	0.1977:0.702:0.0:0.1003	.	298;212	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	G	203;212;299;298	ENSP00000373367:R203G;ENSP00000321116:R212G;ENSP00000391868:R299G;ENSP00000378072:R298G	ENSP00000321116:R212G	R	+	1	2	PNPLA1	36377732	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.110000	0.41873	1.434000	0.47414	0.655000	0.94253	CGA		0.582	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		33	108	0	0	0	1	0	33	108				
RPGRIP1	57096	broad.mit.edu	37	14	21796588	21796588	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:21796588G>C	ENST00000400017.2	+	18	2901	c.2901G>C	c.(2899-2901)caG>caC	p.Q967H	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q624H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q293H|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.Q967H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q929H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q326H	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	967					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCAGGATCAGATGGCATCTC	0.433																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2899-2901)caG>caC		retinitis pigmentosa GTPase regulator interacting protein 1							65.0	59.0	61.0					14																	21796588		1865	4101	5966	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21796588G>C	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2901G>C	14.37:g.21796588G>C	ENSP00000382895:p.Gln967His					RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q293H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q929H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q624H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q326H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q967H	p.Q967H			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	18	2901	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	967			Interaction with RPGR.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2901G>C	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	1.620	-0.521723	0.04171	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.79352	-0.15;-0.95;-0.98;-0.98;-0.49;-1.26;-1.25	4.74	3.84	0.44239	.	0.898596	0.09507	N	0.792893	D	0.85039	0.5606	M	0.68317	2.08	0.09310	N	1	P;P;P;D;P;D	0.67145	0.928;0.928;0.928;0.996;0.928;0.976	P;P;P;P;P;P	0.62560	0.73;0.73;0.73;0.904;0.73;0.72	T	0.71787	-0.4487	10	0.59425	D	0.04	-3.2013	10.7905	0.46429	0.0:0.1916:0.8084:0.0	.	350;326;442;293;583;967	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	H	624;929;967;967;293;442;326	ENSP00000450445:Q624H;ENSP00000451219:Q929H;ENSP00000382895:Q967H;ENSP00000206660:Q967H;ENSP00000372391:Q293H;ENSP00000451262:Q442H;ENSP00000309721:Q326H	ENSP00000206660:Q967H	Q	+	3	2	RPGRIP1	20866428	0.002000	0.14202	0.402000	0.26371	0.015000	0.08874	0.478000	0.22212	1.214000	0.43395	-0.182000	0.12963	CAG		0.433	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		35	43	0	0	0	1	0	35	43				
GAS6	2621	broad.mit.edu	37	13	114549558	114549558	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:114549558G>A	ENST00000327773.6	-	4	431	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GAS6_ENST00000355761.4_Silent_p.C41C|GAS6_ENST00000357389.3_Silent_p.C95C|GAS6_ENST00000476291.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	95					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ACTTGTTGATGCAGTCTGCAG	0.542																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(283-285)tgC>tgT		growth arrest-specific 6							175.0	153.0	160.0					13																	114549558		2203	4300	6503	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114549558G>A		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.285C>T	13.37:g.114549558G>A						GAS6_ENST00000327773.6_Silent_p.C95C|GAS6_ENST00000355761.4_Silent_p.C41C	p.C95C			Q14393	GAS6_HUMAN			4	437	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	95					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.285C>T	CCDS45072.1																																																																																				0.542	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		63	28	0	0	0	1	0	63	28				
TG	7038	broad.mit.edu	37	8	133925509	133925509	+	Splice_Site	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:133925509C>T	ENST00000220616.4	+	20	4417	c.4377C>T	c.(4375-4377)tgC>tgT	p.C1459C	TG_ENST00000377869.1_Splice_Site_p.C1459C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1459					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTGGGATGCGGTAGGTCCA	0.567																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e20+1		thyroglobulin							74.0	62.0	66.0					8																	133925509		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133925509C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4378+1C>T	8.37:g.133925509C>T						TG_ENST00000377869.1_Splice_Site_p.C1459_splice	p.C1459_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	20	4417	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1459					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37	c.4378_splice	CCDS34944.1																																																																																				0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Silent	75	13	0	0	0	1	0	75	13				
FAT4	79633	broad.mit.edu	37	4	126336557	126336557	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:126336557A>G	ENST00000394329.3	+	5	6452	c.6439A>G	c.(6439-6441)Atc>Gtc	p.I2147V	FAT4_ENST00000335110.5_Missense_Mutation_p.I445V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2147	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTACTTGACATCAATGATAA	0.378																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6439-6441)Atc>Gtc		FAT atypical cadherin 4							89.0	84.0	86.0					4																	126336557		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336557A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6439A>G	4.37:g.126336557A>G	ENSP00000377862:p.Ile2147Val					FAT4_ENST00000335110.5_Missense_Mutation_p.I445V	p.I2147V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6452	+			2147			Cadherin 20.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6439A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	0.086	-1.175556	0.01646	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.60171	0.21;0.21	5.42	1.61	0.23674	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34676	U	0.003768	T	0.24470	0.0593	N	0.01771	-0.73	0.39701	D	0.971183	B;B	0.22276	0.067;0.002	B;B	0.33846	0.171;0.004	T	0.25257	-1.0137	10	0.02654	T	1	.	5.2696	0.15617	0.7237:0.0:0.1443:0.1321	.	445;2147	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2147;445	ENSP00000377862:I2147V;ENSP00000335169:I445V	ENSP00000335169:I445V	I	+	1	0	FAT4	126556007	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	5.151000	0.64875	0.328000	0.23435	-0.379000	0.06801	ATC		0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		42	27	0	0	0	1	0	42	27				
ITGA4	3676	broad.mit.edu	37	2	182374418	182374418	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:182374418A>G	ENST00000397033.2	+	16	2159	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	577					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCCAATTCAGATTGAAGCTGC	0.388																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1729-1731)Att>Gtt		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						127.0	113.0	117.0					2																	182374418		1872	4106	5978	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182374418A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1729A>G	2.37:g.182374418A>G	ENSP00000380227:p.Ile577Val						p.I577V	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		16	2159	+			577					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1729A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.871142	0.00542	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.42513	0.97;0.97	6.02	0.681	0.17986	Integrin alpha-2 (1);	0.359455	0.33772	N	0.004578	T	0.16342	0.0393	N	0.04880	-0.145	0.23585	N	0.997357	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.30238	-0.9985	10	0.06494	T	0.89	.	9.4344	0.38630	0.5841:0.0:0.4159:0.0	.	399;577	Q59H74;P13612	.;ITA4_HUMAN	V	577	ENSP00000380227:I577V;ENSP00000233573:I577V	ENSP00000233573:I577V	I	+	1	0	ITGA4	182082663	0.437000	0.25593	0.767000	0.31495	0.037000	0.13140	0.662000	0.25038	0.190000	0.20209	-0.297000	0.09499	ATT		0.388	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			16	76	0	0	0	1	0	16	76				
PIAS1	8554	broad.mit.edu	37	15	68479984	68479984	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr15:68479984T>G	ENST00000249636.6	+	14	1915	c.1767T>G	c.(1765-1767)ttT>ttG	p.F589L	PIAS1_ENST00000545237.1_Missense_Mutation_p.F591L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	589	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAGATGTTTCTTGATCAGT	0.507																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1771-1773)ttT>ttG		protein inhibitor of activated STAT, 1							87.0	84.0	85.0					15																	68479984		1967	4172	6139	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68479984T>G	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1767T>G	15.37:g.68479984T>G	ENSP00000249636:p.Phe589Leu					PIAS1_ENST00000249636.6_Missense_Mutation_p.F589L	p.F591L			O75925	PIAS1_HUMAN			15	2514	+			589			4 X 4 AA repeats of N-T-S-L.|Ser-rich.		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1773T>G	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422153	0.43020	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.37584	1.2;1.19	5.74	-1.87	0.07737	.	0.141443	0.64402	D	0.000004	T	0.30386	0.0763	L	0.47716	1.5	0.45541	D	0.998499	B	0.06786	0.001	B	0.04013	0.001	T	0.14783	-1.0460	10	0.59425	D	0.04	-18.316	15.2083	0.73198	0.0:0.5894:0.0:0.4106	.	589	O75925	PIAS1_HUMAN	L	589;591	ENSP00000249636:F589L;ENSP00000438574:F591L	ENSP00000249636:F589L	F	+	3	2	PIAS1	66267038	0.781000	0.28676	0.799000	0.32177	0.635000	0.38103	-0.129000	0.10515	-0.626000	0.05596	-0.250000	0.11733	TTT		0.507	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			35	24	0	0	0	1	0	35	24				
SIGIRR	59307	broad.mit.edu	37	11	407459	407459	+	Silent	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:407459G>T	ENST00000431843.2	-	6	897	c.591C>A	c.(589-591)ctC>ctA	p.L197L	SIGIRR_ENST00000382520.2_Silent_p.L197L|SIGIRR_ENST00000531205.1_Silent_p.L197L|SIGIRR_ENST00000332725.3_Silent_p.L197L|SIGIRR_ENST00000397632.3_Silent_p.L197L|SIGIRR_ENST00000529486.1_5'UTR	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	197	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCCAGGAAGAGCTTGTAGC	0.711																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(589-591)ctC>ctA		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							17.0	17.0	17.0					11																	407459		2145	4243	6388	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407459G>T		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.591C>A	11.37:g.407459G>T						SIGIRR_ENST00000332725.3_Silent_p.L197L|SIGIRR_ENST00000397632.3_Silent_p.L197L|SIGIRR_ENST00000531205.1_Silent_p.L197L|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.L197L	p.L197L	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	897	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	197			TIR.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.591C>A	CCDS31325.1																																																																																				0.711	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		4	7	1	0	0.00024832	1	0.000256942	4	7				
LHX1	3975	broad.mit.edu	37	17	35299544	35299544	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:35299544G>A	ENST00000254457.5	+	4	2134	c.723G>A	c.(721-723)ctG>ctA	p.L241L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	241					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TGAAGCAGCTGAGCGCCCTGG	0.726																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(721-723)ctG>ctA		LIM homeobox 1							10.0	13.0	12.0					17																	35299544		2183	4258	6441	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35299544G>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.723G>A	17.37:g.35299544G>A						RP11-445F12.2_ENST00000607336.1_RNA	p.L241L	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			4	2134	+		Breast(25;0.00607)	241					Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.723G>A	CCDS11316.1																																																																																				0.726	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		7	9	0	0	0	1	0	7	9				
COL6A3	1293	broad.mit.edu	37	2	238275630	238275630	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:238275630C>G	ENST00000295550.4	-	11	5652	c.5200G>C	c.(5200-5202)Gag>Cag	p.E1734Q	COL6A3_ENST00000346358.4_Missense_Mutation_p.E1534Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1533Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1127Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1528Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1528Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1734	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5200-5202)Gag>Cag		collagen, type VI, alpha 3							61.0	57.0	59.0					2																	238275630		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275630C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5200G>C	2.37:g.238275630C>G	ENSP00000295550:p.Glu1734Gln					COL6A3_ENST00000409809.1_Missense_Mutation_p.E1528Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1528Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1533Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1127Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1534Q	p.E1734Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5652	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1734			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5200G>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610955	0.28712	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.222293	0.31177	N	0.008102	D	0.88959	0.6579	L	0.48986	1.54	0.48762	D	0.999708	D;D;B	0.89917	1.0;1.0;0.294	D;D;B	0.77004	0.989;0.986;0.172	D	0.86819	0.2003	10	0.33940	T	0.23	.	19.5163	0.95167	0.0:1.0:0.0:0.0	.	1127;1528;1734	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	1734;1533;1528;1127;1528;1534	ENSP00000295550:E1734Q;ENSP00000315609:E1533Q;ENSP00000315873:E1528Q;ENSP00000418285:E1127Q;ENSP00000386844:E1528Q;ENSP00000295546:E1534Q	ENSP00000295550:E1734Q	E	-	1	0	COL6A3	237940369	0.093000	0.21703	0.940000	0.37924	0.085000	0.17905	2.013000	0.40942	2.604000	0.88044	0.650000	0.86243	GAG		0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		23	34	0	0	0	1	0	23	34				
PSIP1	11168	broad.mit.edu	37	9	15486044	15486044	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:15486044A>G	ENST00000380733.4	-	6	759	c.416T>C	c.(415-417)aTa>aCa	p.I139T	PSIP1_ENST00000380738.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380716.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380715.1_Missense_Mutation_p.I139T|PSIP1_ENST00000397519.2_Missense_Mutation_p.I139T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	139					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGGAGTAGTTATGTCAACTGC	0.328																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(415-417)aTa>aCa		PC4 and SFRS1 interacting protein 1							135.0	138.0	137.0					9																	15486044		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15486044A>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.416T>C	9.37:g.15486044A>G	ENSP00000370109:p.Ile139Thr					PSIP1_ENST00000397519.2_Missense_Mutation_p.I139T|PSIP1_ENST00000380716.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380738.4_Missense_Mutation_p.I139T|PSIP1_ENST00000380715.1_Missense_Mutation_p.I139T	p.I139T			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	6	759	-			139					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.416T>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	A	1.765	-0.485712	0.04352	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.40225	1.04;1.04;1.09;1.09;1.09	5.18	5.18	0.71444	.	0.421202	0.27664	N	0.018373	T	0.30417	0.0764	L	0.47716	1.5	0.25575	N	0.986854	B;B;B	0.27732	0.187;0.118;0.067	B;B;B	0.22152	0.038;0.012;0.018	T	0.16928	-1.0386	10	0.14252	T	0.57	.	7.7226	0.28742	0.8357:0.0:0.1643:0.0	.	139;139;139	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	T	139	ENSP00000370109:I139T;ENSP00000370114:I139T;ENSP00000370091:I139T;ENSP00000370092:I139T;ENSP00000380653:I139T	ENSP00000370091:I139T	I	-	2	0	PSIP1	15476044	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.796000	0.47869	2.089000	0.63090	0.459000	0.35465	ATA		0.328	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		69	34	0	0	0	1	0	69	34				
HHIPL2	79802	broad.mit.edu	37	1	222717278	222717278	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:222717278C>A	ENST00000343410.6	-	2	633	c.575G>T	c.(574-576)cGc>cTc	p.R192L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	192					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R192L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCCAGGTGGCGGTTGAGATA	0.602																																						ENST00000343410.6																			1	Substitution - Missense(1)	p.R192L(1)	lung(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(574-576)cGc>cTc		HHIP-like 2							56.0	61.0	59.0					1																	222717278		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717278C>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.575G>T	1.37:g.222717278C>A	ENSP00000342118:p.Arg192Leu						p.R192L	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	633	-			192					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.575G>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	2.687	-0.274012	0.05679	.	.	ENSG00000143512	ENST00000343410	T	0.76839	-1.05	5.47	4.56	0.56223	Folate receptor-like (1);	0.211356	0.46442	D	0.000289	T	0.69753	0.3146	M	0.65320	2	0.30013	N	0.815043	B	0.15473	0.013	B	0.19666	0.026	T	0.58509	-0.7624	10	0.07990	T	0.79	-12.559	8.8649	0.35280	0.0:0.7696:0.0:0.2304	.	192	Q6UWX4	HIPL2_HUMAN	L	192	ENSP00000342118:R192L	ENSP00000342118:R192L	R	-	2	0	HHIPL2	220783901	0.000000	0.05858	0.962000	0.40283	0.153000	0.21895	-0.099000	0.11007	1.298000	0.44778	0.591000	0.81541	CGC		0.602	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		25	85	1	0	6.21321e-17	1	6.88304e-17	25	85				
MLXIP	22877	broad.mit.edu	37	12	122618456	122618456	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:122618456A>C	ENST00000319080.7	+	9	1786	c.1654A>C	c.(1654-1656)Aag>Cag	p.K552Q	MLXIP_ENST00000538698.1_Missense_Mutation_p.K159Q|MLXIP_ENST00000377037.2_Missense_Mutation_p.K142Q					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGCAGGCCTAAGCAGCCCCA	0.612																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1654-1656)Aag>Cag		MLX interacting protein							18.0	20.0	19.0					12																	122618456		1931	4134	6065	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122618456A>C	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1654A>C	12.37:g.122618456A>C	ENSP00000312834:p.Lys552Gln					MLXIP_ENST00000377037.2_Missense_Mutation_p.K142Q|MLXIP_ENST00000538698.1_Missense_Mutation_p.K159Q	p.K552Q			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1786	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	552						Missense_Mutation	SNP	ENST00000319080.7	37	c.1654A>C		.	.	.	.	.	.	.	.	.	.	A	17.84	3.488485	0.64074	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	D;D;D	0.88124	-2.34;-2.34;-2.34	5.09	3.94	0.45596	.	0.416480	0.26609	N	0.023423	D	0.91415	0.7291	.	.	.	0.34287	D	0.682778	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.94	D	0.91788	0.5441	9	0.30078	T	0.28	-16.6173	10.7491	0.46198	0.9249:0.0:0.0751:0.0	.	552;552	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	Q	552;159;159;142	ENSP00000312834:K552Q;ENSP00000440769:K159Q;ENSP00000366236:K142Q	ENSP00000312834:K552Q	K	+	1	0	MLXIP	121184409	1.000000	0.71417	0.997000	0.53966	0.811000	0.45836	4.551000	0.60740	0.773000	0.33404	0.533000	0.62120	AAG		0.612	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		20	10	0	0	0	1	0	20	10				
GOLIM4	27333	broad.mit.edu	37	3	167747016	167747016	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:167747016T>C	ENST00000470487.1	-	11	2197	c.1508A>G	c.(1507-1509)gAa>gGa	p.E503G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E475G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	503	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCACCTCCTTCCTCTCCTTG	0.373																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1507-1509)gAa>gGa		golgi integral membrane protein 4							127.0	109.0	115.0					3																	167747016		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747016T>C	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1508A>G	3.37:g.167747016T>C	ENSP00000417354:p.Glu503Gly					GOLIM4_ENST00000309027.4_Missense_Mutation_p.E475G	p.E503G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			11	2197	-			503			Gln-rich.|Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1508A>G	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343256	0.82022	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.97	4.97	0.65823	.	0.253810	0.44902	D	0.000406	T	0.72260	0.3438	M	0.73598	2.24	0.46631	D	0.999131	D;P	0.54772	0.968;0.915	P;P	0.53185	0.72;0.72	T	0.75892	-0.3157	9	0.52906	T	0.07	-10.5979	14.7032	0.69168	0.0:0.0:0.0:1.0	.	475;503	F8W785;O00461	.;GOLI4_HUMAN	G	503;475	.	ENSP00000309893:E475G	E	-	2	0	GOLIM4	169229710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.212000	0.58514	1.884000	0.54569	0.449000	0.29647	GAA		0.373	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			11	118	0	0	0	1	0	11	118				
DDAH2	23564	broad.mit.edu	37	6	31692648	31692648	+	IGR	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:31692648T>G	ENST00000375789.2	-	0	1688				C6orf25_ENST00000480039.1_Missense_Mutation_p.D216E|C6orf25_ENST00000375809.3_Intron|C6orf25_ENST00000375805.2_Intron|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Nonstop_Mutation_p.*223E			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2						arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGGAAGGGGATAGCCAGAATC	0.537																																						ENST00000375810.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(667-669)Tag>Gag		chromosome 6 open reading frame 25							47.0	46.0	47.0					6																	31692648		2203	4300	6503	SO:0001628	intergenic_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692648T>G	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212		6.37:g.31692648T>G						C6orf25_ENST00000375809.3_Intron|C6orf25_ENST00000480039.1_Missense_Mutation_p.D216E|C6orf25_ENST00000375805.2_Intron	p.*223E			O95866	G6B_HUMAN			5	707	+			0					A2BEZ7	Nonstop_Mutation	SNP	ENST00000375789.2	37	c.667T>G	CCDS4718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.015|0.015	-1.569633|-1.569633	0.00895|0.00895	.|.	.|.	ENSG00000204420|ENSG00000204420	ENST00000480039|ENST00000375810	T|.	0.45668|.	0.89|.	4.98|4.98	-4.81|-4.81	0.03180|0.03180	.|.	.|.	.|.	.|.	.|.	T|.	0.05593|.	0.0147|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33599|.	-0.9862|.	5|.	.|.	.|.	.|.	.|.	1.0153|1.0153	0.01506|0.01506	0.1403:0.2572:0.2707:0.3319|0.1403:0.2572:0.2707:0.3319	.|.	.|.	.|.	.|.	E|E	216|223	ENSP00000419306:D216E|.	.|.	D|X	+|+	3|1	2|0	C6orf25|C6orf25	31800627|31800627	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	-0.444000|-0.444000	0.06854|0.06854	-0.529000|-0.529000	0.06358|0.06358	0.482000|0.482000	0.46254|0.46254	GAT|TAG		0.537	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			20	84	0	0	0	1	0	20	84				
KCNJ2	3759	broad.mit.edu	37	17	68171263	68171263	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:68171263A>G	ENST00000243457.3	+	2	466	c.83A>G	c.(82-84)aAt>aGt	p.N28S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.N28S	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	28					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCAGTTGCAAATGGCTTTGGG	0.517																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(82-84)aAt>aGt		potassium inwardly-rectifying channel, subfamily J, member 2							97.0	88.0	91.0					17																	68171263		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171263A>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.83A>G	17.37:g.68171263A>G	ENSP00000243457:p.Asn28Ser					KCNJ2_ENST00000535240.1_Missense_Mutation_p.N28S	p.N28S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	466	+	Breast(10;1.64e-08)		28					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.83A>G	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665285	0.67700	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	T;T	0.42131	0.98;0.98	5.79	5.79	0.91817	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	L	0.55990	1.75	0.80722	D	1	P	0.42649	0.786	P	0.48738	0.588	T	0.42224	-0.9464	9	.	.	.	.	16.1388	0.81509	1.0:0.0:0.0:0.0	.	28	P63252	IRK2_HUMAN	S	28	ENSP00000441848:N28S;ENSP00000243457:N28S	.	N	+	2	0	KCNJ2	65682858	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	9.339000	0.96797	2.205000	0.71048	0.528000	0.53228	AAT		0.517	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		19	64	0	0	0	1	0	19	64				
COL3A1	1281	broad.mit.edu	37	2	189876410	189876410	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:189876410G>A	ENST00000304636.3	+	51	4481	c.4311G>A	c.(4309-4311)gtG>gtA	p.V1437V	COL3A1_ENST00000317840.5_Silent_p.V1134V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1437	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GCAAGGCTGTGAGACTACCTA	0.393																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(4309-4311)gtG>gtA		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						228.0	206.0	214.0					2																	189876410		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189876410G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4311G>A	2.37:g.189876410G>A						COL3A1_ENST00000317840.5_Silent_p.V1134V	p.V1437V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		51	4481	+			1437			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.4311G>A	CCDS2297.1																																																																																				0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		28	25	0	0	0	1	0	28	25				
PRAMEF2	65122	broad.mit.edu	37	1	12918969	12918969	+	Silent	SNP	C	C	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:12918969C>G	ENST00000240189.2	+	2	192	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	35					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGGTGCTCTATCTCCCAC	0.627																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(103-105)ctC>ctG		PRAME family member 2							104.0	112.0	110.0					1																	12918969		2201	4296	6497	SO:0001819	synonymous_variant	65122							g.chr1:12918969C>G		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.105C>G	1.37:g.12918969C>G							p.L35L	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	192	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	35						Silent	SNP	ENST00000240189.2	37	c.105C>G	CCDS149.1																																																																																				0.627	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		83	57	0	0	0	1	0	83	57				
INTS9	55756	broad.mit.edu	37	8	28747393	28747393	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:28747393G>A	ENST00000521022.1	-	1	88	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	HMBOX1_ENST00000287701.10_5'Flank|HMBOX1_ENST00000444075.1_5'Flank|HMBOX1_ENST00000558662.1_5'Flank|HMBOX1_ENST00000397358.3_5'Flank|INTS9_ENST00000521777.1_5'UTR|HMBOX1_ENST00000403668.2_5'Flank|HMBOX1_ENST00000355231.5_5'Flank|HMBOX1_ENST00000519047.1_5'Flank|INTS9_ENST00000397363.4_5'UTR|HMBOX1_ENST00000523613.1_5'Flank|INTS9_ENST00000416984.2_Silent_p.L3L	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	3					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGACTCACCAGTTTCATAATG	0.527																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(7-9)Ctg>Ttg		integrator complex subunit 9							102.0	76.0	85.0					8																	28747393		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28747393G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.7C>T	8.37:g.28747393G>A						INTS9_ENST00000397363.4_5'UTR|INTS9_ENST00000521777.1_5'UTR|INTS9_ENST00000521022.1_Silent_p.L3L	p.L3L	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	1	366	-		Ovarian(32;0.0439)	3					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.7C>T	CCDS34873.1																																																																																				0.527	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		12	9	0	0	0	1	0	12	9				
DENND4C	55667	broad.mit.edu	37	9	19335103	19335103	+	Splice_Site	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:19335103G>A	ENST00000380432.2	+	14	1914	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	DENND4C_ENST00000434457.2_Splice_Site_p.K863K|DENND4C_ENST00000602925.1_Splice_Site_p.K863K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	627					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATTATAATAAGGTAAGTAGGA	0.328																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e14+1		DENN/MADD domain containing 4C							79.0	79.0	79.0					9																	19335103		2203	4300	6503	SO:0001630	splice_region_variant	55667					integral to membrane		g.chr9:19335103G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1881+1G>A	9.37:g.19335103G>A						DENND4C_ENST00000540671.1_5'UTR|DENND4C_ENST00000434457.2_Splice_Site_p.K863_splice|DENND4C_ENST00000380432.2_Splice_Site_p.K627_splice|DENND4C_ENST00000602925.1_Splice_Site_p.K863_splice	p.K54_splice			Q5VZ89	DEN4C_HUMAN			14	1914	+			627					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Splice_Site	SNP	ENST00000380432.2	37	c.162_splice																																																																																					0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	Silent	5	10	0	0	0	1	0	5	10				
ROS1	6098	broad.mit.edu	37	6	117647402	117647402	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:117647402T>G	ENST00000368508.3	-	33	5740	c.5542A>C	c.(5542-5544)Att>Ctt	p.I1848L	ROS1_ENST00000368507.3_Missense_Mutation_p.I1842L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1848	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTAATATAATATTCTCACTG	0.338			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(5542-5544)Att>Ctt		c-ros oncogene 1 , receptor tyrosine kinase							108.0	106.0	107.0					6																	117647402		2202	4299	6501	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117647402T>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5542A>C	6.37:g.117647402T>G	ENSP00000357494:p.Ile1848Leu					ROS1_ENST00000368507.3_Missense_Mutation_p.I1842L|GOPC_ENST00000467125.1_Intron	p.I1848L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	33	5740	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1848			Fibronectin type-III 9.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5542A>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681036	0.47886	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.72615	-0.67;-0.67	5.1	3.94	0.45596	.	0.094616	0.46145	D	0.000317	T	0.70587	0.3241	L	0.56124	1.755	0.80722	D	1	D	0.59357	0.985	D	0.67548	0.952	T	0.72763	-0.4195	10	0.52906	T	0.07	.	10.2242	0.43216	0.0:0.0783:0.0:0.9217	.	1848	P08922	ROS1_HUMAN	L	1848;1842	ENSP00000357494:I1848L;ENSP00000357493:I1842L	ENSP00000357493:I1842L	I	-	1	0	ROS1	117754095	0.998000	0.40836	0.469000	0.27204	0.408000	0.30992	2.294000	0.43567	0.894000	0.36317	0.528000	0.53228	ATT		0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			50	13	0	0	0	1	0	50	13				
TTN	7273	broad.mit.edu	37	2	179395596	179395596	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:179395596G>A	ENST00000591111.1	-	308	101047	c.100823C>T	c.(100822-100824)tCt>tTt	p.S33608F	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26309F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35249F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32681F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26184F|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26376F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33608					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S32681C(1)|p.S26184C(1)|p.S26309C(1)|p.S32679C(1)|p.S26376C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGTTTTGGAGACTTAACTGC	0.493																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.S32681C(1)|p.S26184C(1)|p.S26309C(1)|p.S32679C(1)|p.S26376C(1)	lung(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(105745-105747)tCt>tTt		titin							130.0	127.0	128.0					2																	179395596		1876	4102	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395596G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100823C>T	2.37:g.179395596G>A	ENSP00000465570:p.Ser33608Phe					TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33608F|TTN_ENST00000342992.6_Missense_Mutation_p.S32681F|TTN_ENST00000460472.2_Missense_Mutation_p.S26184F|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26376F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26309F|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA	p.S35249F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	105970	-			33608					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.105746C>T		.	.	.	.	.	.	.	.	.	.	G	16.51	3.142957	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69306	-0.39;-0.03;-0.05;-0.05	4.99	4.99	0.66335	Ribonuclease H-like (1);	.	.	.	.	T	0.64875	0.2638	L	0.32530	0.975	0.52099	D	0.999945	P;P;P;P	0.42123	0.771;0.771;0.771;0.771	B;B;B;P	0.45428	0.355;0.355;0.355;0.48	T	0.70303	-0.4909	9	0.87932	D	0	.	18.2867	0.90117	0.0:0.0:1.0:0.0	.	26184;26309;26376;33608	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	32681;26184;26376;26309;26181	ENSP00000343764:S32681F;ENSP00000434586:S26184F;ENSP00000340554:S26376F;ENSP00000352154:S26309F	ENSP00000340554:S26376F	S	-	2	0	TTN	179103842	1.000000	0.71417	0.999000	0.59377	0.549000	0.35272	7.025000	0.76449	2.321000	0.78463	0.455000	0.32223	TCT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		108	26	0	0	0	1	0	108	26				
GTF3C5	9328	broad.mit.edu	37	9	135927456	135927456	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:135927456A>G	ENST00000372097.5	+	5	1101	c.778A>G	c.(778-780)Atc>Gtc	p.I260V	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.I260V|GTF3C5_ENST00000372095.5_Missense_Mutation_p.I135V|GTF3C5_ENST00000372099.6_Missense_Mutation_p.I251V	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	260					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCTGTTTGACATCCGTCCCAT	0.577																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(778-780)Atc>Gtc		general transcription factor IIIC, polypeptide 5, 63kDa							223.0	165.0	185.0					9																	135927456		2203	4300	6503	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135927456A>G	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.778A>G	9.37:g.135927456A>G	ENSP00000361169:p.Ile260Val					GTF3C5_ENST00000372108.5_Missense_Mutation_p.I260V|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.I135V|GTF3C5_ENST00000372099.6_Missense_Mutation_p.I251V	p.I260V	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	5	1101	+			260					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.778A>G	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	A	7.617	0.675988	0.14841	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697	T;T;T	0.42513	0.98;0.98;0.97	4.84	-0.32	0.12721	.	0.342942	0.33290	N	0.005070	T	0.23210	0.0561	L	0.27053	0.805	0.21841	N	0.999517	B;B;B	0.23377	0.084;0.001;0.0	B;B;B	0.24155	0.051;0.002;0.003	T	0.10683	-1.0619	10	0.30078	T	0.28	-15.2342	5.0492	0.14499	0.5084:0.1553:0.3363:0.0	.	135;260;260	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	V	260;213;251;135;110;260;135	ENSP00000361169:I260V;ENSP00000361171:I251V;ENSP00000361180:I260V	ENSP00000361161:I110V	I	+	1	0	GTF3C5	134917277	0.026000	0.19158	0.463000	0.27130	0.751000	0.42716	0.899000	0.28417	-0.066000	0.12998	0.520000	0.50463	ATC		0.577	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		39	41	0	0	0	1	0	39	41				
CADPS	8618	broad.mit.edu	37	3	62459953	62459953	+	Silent	SNP	T	T	C	rs148854672		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:62459953T>C	ENST00000383710.4	-	24	3721	c.3372A>G	c.(3370-3372)cgA>cgG	p.R1124R	CADPS_ENST00000357948.3_Silent_p.R1045R|CADPS_ENST00000283269.9_Silent_p.R1085R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1124	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATCTGTTGATCGACTGGTTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		14918	0.0		0.001	False		,,,				2504	0.0					ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3370-3372)cgA>cgG		Ca++-dependent secretion activator		T	,,	0,4406		0,0,2203	184.0	180.0	182.0		3372,3135,3255	6.1	1.0	3	dbSNP_134	182	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	,,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,,	1124/1354,1045/1275,1085/1315	62459953	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62459953T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3372A>G	3.37:g.62459953T>C						CADPS_ENST00000283269.9_Silent_p.R1085R|CADPS_ENST00000357948.3_Silent_p.R1045R	p.R1124R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	24	3721	-		Lung SC(41;0.0452)	1124			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3372A>G	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.371|7.371	0.626725|0.626725	0.14257|0.14257	0.0|0.0	3.49E-4|3.49E-4	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000466621	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|.	.|.	.|.	.|.	T|T	0.64327|0.64327	0.2588|0.2588	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63242|0.63242	-0.6681|-0.6681	4|4	.|.	.|.	.|.	.|.	11.6307|11.6307	0.51173|0.51173	0.0:0.0684:0.0:0.9316|0.0:0.0684:0.0:0.9316	.|.	.|.	.|.	.|.	G|V	111|36	.|.	.|.	D|I	-|-	2|1	0|0	CADPS|CADPS	62434993|62434993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.003000|3.003000	0.49505|0.49505	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.413	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		6	89	0	0	0	1	0	6	89				
PDZRN3	23024	broad.mit.edu	37	3	73437118	73437118	+	Splice_Site	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:73437118C>A	ENST00000263666.4	-	8	1633		c.e8+1		PDZRN3_ENST00000535920.1_Splice_Site|PDZRN3_ENST00000466348.1_Splice_Site|PDZRN3_ENST00000462146.2_Splice_Site|PDZRN3_ENST00000466780.1_Splice_Site|PDZRN3_ENST00000479530.1_Splice_Site	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3						neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCCAATTTACCTGGAGTTCA	0.433																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.e8+1		PDZ domain containing ring finger 3							144.0	163.0	157.0					3																	73437118		2203	4300	6503	SO:0001630	splice_region_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73437118C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1518+1G>T	3.37:g.73437118C>A						PDZRN3_ENST00000466348.1_Splice_Site|PDZRN3_ENST00000466780.1_Splice_Site|PDZRN3_ENST00000535920.1_Splice_Site|PDZRN3_ENST00000479530.1_Splice_Site|PDZRN3_ENST00000462146.2_Splice_Site		NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	8	1633	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)						A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Splice_Site	SNP	ENST00000263666.4	37		CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055639	0.55325	.	.	ENSG00000121440	ENST00000494559;ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6737	0.88224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDZRN3	73519808	1.000000	0.71417	0.994000	0.49952	0.634000	0.38068	7.593000	0.82686	2.340000	0.79590	0.655000	0.94253	.		0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	Intron	99	82	1	0	1.13762e-57	1	1.314e-57	99	82				
PRR23B	389151	broad.mit.edu	37	3	138739168	138739168	+	Silent	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:138739168T>C	ENST00000329447.5	-	1	600	c.336A>G	c.(334-336)tcA>tcG	p.S112S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	112										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCGCTCCTGAGCGTTCGT	0.632																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(334-336)tcA>tcG		proline rich 23B							50.0	50.0	50.0					3																	138739168		2203	4300	6503	SO:0001819	synonymous_variant	389151							g.chr3:138739168T>C	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.336A>G	3.37:g.138739168T>C						MRPS22_ENST00000495075.1_Intron	p.S112S	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	600	-			112					B2RNV9	Silent	SNP	ENST00000329447.5	37	c.336A>G	CCDS33868.1																																																																																				0.632	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		17	126	0	0	0	1	0	17	126				
MYH8	4626	broad.mit.edu	37	17	10297619	10297619	+	Missense_Mutation	SNP	C	C	T	rs143448404	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:10297619C>T	ENST00000403437.2	-	35	5207	c.5113G>A	c.(5113-5115)Gcc>Acc	p.A1705T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1705					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTGTTCGGCGATTTTCCTG	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	2	0.000399361	0.0015	0.0	5008	,	,		15519	0.0		0.0	False		,,,				2504	0.0					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5113-5115)Gcc>Acc		myosin, heavy chain 8, skeletal muscle, perinatal		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	131.0	116.0	121.0		5113	5.1	0.3	17	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH8	NM_002472.2	58	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	possibly-damaging	1705/1938	10297619	5,13001	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297619C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5113G>A	17.37:g.10297619C>T	ENSP00000384330:p.Ala1705Thr					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1705T	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			35	5207	-			1705					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5113G>A	CCDS11153.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.4	4.824375	0.90955	6.81E-4	2.33E-4	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83837	-1.77	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.41396	U	0.000884	D	0.90359	0.6983	M	0.91140	3.18	0.58432	D	0.999998	D	0.53312	0.959	P	0.50659	0.647	D	0.92382	0.5914	10	0.62326	D	0.03	.	18.6157	0.91302	0.0:1.0:0.0:0.0	.	1705	P13535	MYH8_HUMAN	T	1705	ENSP00000384330:A1705T	ENSP00000252173:A1705T	A	-	1	0	MYH8	10238344	1.000000	0.71417	0.335000	0.25508	0.645000	0.38454	5.884000	0.69729	2.632000	0.89209	0.650000	0.86243	GCC		0.572	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		15	94	0	0	0	1	0	15	94				
XRCC5	7520	broad.mit.edu	37	2	217001937	217001937	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:217001937C>T	ENST00000392133.3	+	13	1701	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	XRCC5_ENST00000392132.2_Missense_Mutation_p.H414Y|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	414	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TCATATCAAGCATAACTATGA	0.368								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1240-1242)Cat>Tat	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							110.0	107.0	108.0					2																	217001937		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217001937C>T	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1240C>T	2.37:g.217001937C>T	ENSP00000375978:p.His414Tyr					XRCC5_ENST00000392132.2_Missense_Mutation_p.H414Y|XRCC5_ENST00000471649.1_3'UTR	p.H414Y			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	13	1701	+		Renal(323;0.0328)	414			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1240C>T	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825571	0.16749	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.29917	1.55;1.55	5.55	2.57	0.30868	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.648359	0.16944	N	0.193155	T	0.19046	0.0457	N	0.14661	0.345	0.23624	N	0.997267	B	0.11235	0.004	B	0.09377	0.004	T	0.21930	-1.0231	10	0.62326	D	0.03	.	11.7437	0.51807	0.0723:0.2581:0.6696:0.0	.	414	P13010	XRCC5_HUMAN	Y	414	ENSP00000375978:H414Y;ENSP00000375977:H414Y	ENSP00000375977:H414Y	H	+	1	0	XRCC5	216710182	1.000000	0.71417	0.935000	0.37517	0.235000	0.25334	2.550000	0.45811	0.707000	0.31934	-0.867000	0.03001	CAT		0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		6	34	0	0	0	1	0	6	34				
MAGI2	9863	broad.mit.edu	37	7	77708282	77708282	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:77708282C>T	ENST00000354212.4	-	21	3941	c.3688G>A	c.(3688-3690)Gga>Aga	p.G1230R	MAGI2_ENST00000419488.1_Missense_Mutation_p.G1216R|MAGI2_ENST00000522391.1_Missense_Mutation_p.G1230R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1230					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGACCTGTCCCGTGCCTCTC	0.433																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3688-3690)Gga>Aga		membrane associated guanylate kinase, WW and PDZ domain containing 2							222.0	188.0	199.0					7																	77708282		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77708282C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3688G>A	7.37:g.77708282C>T	ENSP00000346151:p.Gly1230Arg					MAGI2_ENST00000522391.1_Missense_Mutation_p.G1230R|MAGI2_ENST00000419488.1_Missense_Mutation_p.G1216R	p.G1230R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			21	3941	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1230					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3688G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052353	0.93793	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17213	2.29;2.29;2.29	5.45	5.45	0.79879	PDZ/DHR/GLGF (1);	0.000000	0.36854	U	0.002375	T	0.30634	0.0771	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.10660	-1.0620	10	0.72032	D	0.01	.	19.6414	0.95758	0.0:1.0:0.0:0.0	.	1230;1216;1230	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	R	1216;1230;1230;1230	ENSP00000405766:G1216R;ENSP00000346151:G1230R;ENSP00000428389:G1230R	ENSP00000346151:G1230R	G	-	1	0	MAGI2	77546218	1.000000	0.71417	0.980000	0.43619	0.938000	0.57974	7.776000	0.85560	2.721000	0.93114	0.655000	0.94253	GGA		0.433	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		19	126	0	0	0	1	0	19	126				
PARM1	25849	broad.mit.edu	37	4	75938035	75938035	+	Silent	SNP	C	C	T	rs374029387		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:75938035C>T	ENST00000307428.7	+	2	656	c.444C>T	c.(442-444)ctC>ctT	p.L148L	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	148					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCCCACACTCATCTCCCCTC	0.567																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(442-444)ctC>ctT		prostate androgen-regulated mucin-like protein 1							185.0	200.0	195.0					4																	75938035		2153	4248	6401	SO:0001819	synonymous_variant	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938035C>T	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.444C>T	4.37:g.75938035C>T						RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	p.L148L	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	656	+			148					B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	c.444C>T	CCDS47077.1																																																																																				0.567	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		70	158	0	0	0	1	0	70	158				
RNF6	6049	broad.mit.edu	37	13	26789049	26789049	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:26789049G>C	ENST00000381588.4	-	5	1722	c.970C>G	c.(970-972)Cat>Gat	p.H324D	RNF6_ENST00000346166.3_Missense_Mutation_p.H324D|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H324D|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	324	Arg-rich.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGGGAATTATGATAAACAGTG	0.413																																						ENST00000381588.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(970-972)Cat>Gat		ring finger protein (C3H2C3 type) 6							189.0	182.0	184.0					13																	26789049		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789049G>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.970C>G	13.37:g.26789049G>C	ENSP00000371000:p.His324Asp					RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.H324D|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.H324D	p.H324D	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	1722	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	324			Arg-rich.		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.970C>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.157296	0.01686	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.06933	3.24;3.24;3.24	4.51	0.611	0.17586	.	0.911953	0.09311	N	0.819632	T	0.07999	0.0200	L	0.47716	1.5	0.09310	N	1	B	0.19583	0.037	B	0.21546	0.035	T	0.39502	-0.9611	10	0.42905	T	0.14	-2.7023	4.2975	0.10908	0.3232:0.0:0.5266:0.1502	.	324	Q9Y252	RNF6_HUMAN	D	324	ENSP00000342121:H324D;ENSP00000371000:H324D;ENSP00000370982:H324D	ENSP00000342121:H324D	H	-	1	0	RNF6	25687049	0.609000	0.26975	0.002000	0.10522	0.758000	0.43043	2.037000	0.41174	0.134000	0.18681	0.557000	0.71058	CAT		0.413	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		32	105	0	0	0	1	0	32	105				
DOCK5	80005	broad.mit.edu	37	8	25174611	25174611	+	Silent	SNP	G	G	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:25174611G>T	ENST00000276440.7	+	14	1451	c.1407G>T	c.(1405-1407)acG>acT	p.T469T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	469	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGGTGACGATGTCTGTGC	0.498																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1405-1407)acG>acT		dedicator of cytokinesis 5							245.0	207.0	220.0					8																	25174611		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25174611G>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1407G>T	8.37:g.25174611G>T							p.T469T	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	14	1451	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	469			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.1407G>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	0.854	-0.737590	0.03111	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.49	0.541	0.17168	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35798	-0.9774	4	.	.	.	.	5.2061	0.15291	0.3175:0.4381:0.1816:0.0628	.	.	.	.	Y	241	.	.	D	+	1	0	DOCK5	25230528	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	0.759000	0.26461	0.043000	0.15746	-1.873000	0.00551	GAT		0.498	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		101	84	1	0	2.54621e-43	1	2.92962e-43	101	84				
ATP2A3	489	broad.mit.edu	37	17	3850779	3850779	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:3850779C>T	ENST00000352011.3	-	8	1055	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	ATP2A3_ENST00000397035.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397041.3_Missense_Mutation_p.R334Q			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	334					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGGCAGGCTTCGCACGATGGC	0.667																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1000-1002)cGa>cAa		ATPase, Ca++ transporting, ubiquitous							89.0	70.0	76.0					17																	3850779		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850779C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1001G>A	17.37:g.3850779C>T	ENSP00000301387:p.Arg334Gln					ATP2A3_ENST00000397041.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397035.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000359983.3_Missense_Mutation_p.R334Q|ATP2A3_ENST00000397043.3_Missense_Mutation_p.R334Q	p.R334Q	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1151	-			334					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1001G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535551	0.85812	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	3.88	3.88	0.44766	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.99642	4.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.983;0.989;0.993;0.989;0.989;0.989	D	0.98936	1.0789	10	0.87932	D	0	.	16.1086	0.81244	0.0:1.0:0.0:0.0	.	334;334;334;334;334;334	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	Q	334	ENSP00000380236:R334Q;ENSP00000301387:R334Q;ENSP00000353072:R334Q;ENSP00000380234:R334Q;ENSP00000312577:R334Q;ENSP00000380229:R334Q	ENSP00000312577:R334Q	R	-	2	0	ATP2A3	3797528	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	7.604000	0.82830	2.428000	0.82296	0.563000	0.77884	CGA		0.667	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		31	94	0	0	0	1	0	31	94				
MFSD8	256471	broad.mit.edu	37	4	128861105	128861105	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr4:128861105C>A	ENST00000296468.3	-	7	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.D156Y	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	201					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTAATCACATCCCATGTCACA	0.318																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(601-603)Gat>Tat		major facilitator superfamily domain containing 8							96.0	97.0	96.0					4																	128861105		2203	4296	6499	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128861105C>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.601G>T	4.37:g.128861105C>A	ENSP00000296468:p.Asp201Tyr					MFSD8_ENST00000513559.1_Missense_Mutation_p.D156Y|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Intron	p.D201Y	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			7	728	-			201					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.601G>T	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756341	0.31137	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	D;D	0.85258	-1.96;-1.86	4.5	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.122680	0.06506	N	0.737164	T	0.80954	0.4723	L	0.29908	0.895	0.80722	D	1	P;D	0.55172	0.832;0.97	B;P	0.54174	0.252;0.744	T	0.75202	-0.3401	10	0.02654	T	1	-6.9259	6.3389	0.21312	0.0:0.6563:0.2084:0.1353	.	163;201	B7Z280;Q8NHS3	.;MFSD8_HUMAN	Y	201;156	ENSP00000296468:D201Y;ENSP00000425000:D156Y	ENSP00000296468:D201Y	D	-	1	0	MFSD8	129080555	0.996000	0.38824	0.982000	0.44146	0.413000	0.31143	0.481000	0.22260	2.349000	0.79799	0.655000	0.94253	GAT		0.318	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		29	11	1	0	7.41945e-09	1	7.86831e-09	29	11				
DNAJC2	27000	broad.mit.edu	37	7	102968144	102968144	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:102968144A>G	ENST00000379263.3	-	4	639	c.389T>C	c.(388-390)aTa>aCa	p.I130T	DNAJC2_ENST00000249270.7_Missense_Mutation_p.I130T|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	130	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCCTTCTTTTATTGGTTCACC	0.328																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(388-390)aTa>aCa		DnaJ (Hsp40) homolog, subfamily C, member 2							159.0	149.0	152.0					7																	102968144		1825	4091	5916	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102968144A>G	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.389T>C	7.37:g.102968144A>G	ENSP00000368565:p.Ile130Thr					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.I130T	p.I130T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			4	639	-			130			J.		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.389T>C	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.54|15.54	2.863028|2.863028	0.51482|0.51482	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277|ENST00000426036	T;T;T|.	0.21734|.	1.99;1.99;1.99|.	5.12|5.12	5.12|5.12	0.69794|0.69794	Heat shock protein DnaJ, N-terminal (5);|.	0.045498|.	0.85682|.	D|.	0.000000|.	T|.	0.38639|.	0.1048|.	N|N	0.05414|0.05414	-0.055|-0.055	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.049;0.997|.	B;D|.	0.80764|.	0.02;0.994|.	T|.	0.30679|.	-0.9970|.	10|.	0.15499|.	T|.	0.54|.	-31.6893|-31.6893	15.0863|15.0863	0.72155|0.72155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	130;130|.	Q99543-2;Q99543|.	.;DNJC2_HUMAN|.	T|Q	130;130;130;56|119	ENSP00000249270:I130T;ENSP00000368565:I130T;ENSP00000399058:I56T|.	ENSP00000249270:I130T|.	I|X	-|-	2|1	0|0	DNAJC2|DNAJC2	102755380|102755380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.321000|8.321000	0.89997|0.89997	2.146000|2.146000	0.66826|0.66826	0.379000|0.379000	0.24179|0.24179	ATA|TAA		0.328	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			18	29	0	0	0	1	0	18	29				
VNN3	55350	broad.mit.edu	37	6	133045827	133045827	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:133045827A>T	ENST00000207771.3	-	6	1190	c.1118T>A	c.(1117-1119)aTg>aAg	p.M373K	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR			Q9NY84	VNN3_HUMAN	vanin 3	374					nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTTCTCAGACATCTTGTAAGT	0.378																																						ENST00000207771.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(1117-1119)aTg>aAg		vanin 3							36.0	35.0	36.0					6																	133045827		876	1991	2867	SO:0001583	missense	55350							g.chr6:133045827A>T	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000207771.3:c.1118T>A	6.37:g.133045827A>T	ENSP00000440594:p.Met373Lys					VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR	p.M373K						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	6	1190	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000207771.3	37	c.1118T>A		.	.	.	.	.	.	.	.	.	.	A	13.91	2.376626	0.42105	.	.	ENSG00000093134	ENST00000207771	D	0.91996	-2.95	4.88	4.88	0.63580	.	0.155109	0.45361	U	0.000376	T	0.80549	0.4644	.	.	.	0.80722	D	1	B	0.34015	0.435	B	0.28991	0.097	T	0.80692	-0.1269	9	0.32370	T	0.25	-12.5141	10.8798	0.46931	0.8424:0.1576:0.0:0.0	.	374	Q9NY84	VNN3_HUMAN	K	373	ENSP00000440594:M373K	ENSP00000440594:M373K	M	-	2	0	VNN3	133087520	1.000000	0.71417	0.999000	0.59377	0.537000	0.34900	3.686000	0.54685	1.956000	0.56807	0.477000	0.44152	ATG		0.378	VNN3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028290		36	10	0	0	0	1	0	36	10				
CCDC185	164127	broad.mit.edu	37	1	223567417	223567417	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:223567417C>T	ENST00000366875.3	+	1	703	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		200										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGCAAAAGTTCAAGAGGCACT	0.617																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(598-600)ttC>ttT		chromosome 1 open reading frame 65							80.0	84.0	82.0					1																	223567417		2203	4300	6503	SO:0001819	synonymous_variant	164127							g.chr1:223567417C>T																												ENST00000366875.3:c.600C>T	1.37:g.223567417C>T							p.F200F	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	703	+			200					Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.600C>T	CCDS1537.1																																																																																				0.617	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			76	83	0	0	0	1	0	76	83				
DSEL	92126	broad.mit.edu	37	18	65180985	65180985	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr18:65180985G>A	ENST00000310045.7	-	2	2364	c.891C>T	c.(889-891)gtC>gtT	p.V297V	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	287					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)				CATACTGTGTGACGGATTTAG	0.383																																						ENST00000310045.7																			0				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						c.(889-891)gtC>gtT		dermatan sulfate epimerase-like							82.0	85.0	84.0					18																	65180985		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180985G>A	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.891C>T	18.37:g.65180985G>A						CTD-2541J13.2_ENST00000583493.1_RNA	p.V297V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2364	-		Esophageal squamous(42;0.129)	287					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.891C>T	CCDS11995.1																																																																																				0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		16	29	0	0	0	1	0	16	29				
MR1	3140	broad.mit.edu	37	1	181021581	181021581	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:181021581G>C	ENST00000367580.5	+	4	820	c.815G>C	c.(814-816)aGc>aCc	p.S272T	MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.S227T|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	272	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GATCCTCAGAGCAGCAACCTT	0.522																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(814-816)aGc>aCc		major histocompatibility complex, class I-related							71.0	75.0	74.0					1																	181021581		2203	4300	6503	SO:0001583	missense	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021581G>C	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.815G>C	1.37:g.181021581G>C	ENSP00000356552:p.Ser272Thr					MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.S227T|MR1_ENST00000434571.2_Intron	p.S272T	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN			4	820	+			272			Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.815G>C	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268190	0.23136	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.03124	4.04;4.04	4.31	1.01	0.19927	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.872648	0.10182	N	0.705727	T	0.04543	0.0124	L	0.53780	1.695	0.09310	N	1	B;B	0.16396	0.017;0.011	B;B	0.15484	0.007;0.013	T	0.40403	-0.9565	10	0.87932	D	0	.	4.0796	0.09921	0.3235:0.1728:0.5037:0.0	.	227;272	Q95460-2;Q95460	.;HMR1_HUMAN	T	272;227	ENSP00000356552:S272T;ENSP00000356551:S227T	ENSP00000356551:S227T	S	+	2	0	MR1	179288204	0.002000	0.14202	0.034000	0.17996	0.052000	0.14988	0.247000	0.18179	0.029000	0.15352	0.655000	0.94253	AGC		0.522	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		14	66	0	0	0	1	0	14	66				
COL4A3	1285	broad.mit.edu	37	2	228124545	228124545	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:228124545G>A	ENST00000396578.3	+	19	1228	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	356	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGGAGATGAAGGCACTCC	0.433																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1066-1068)Gaa>Aaa		collagen, type IV, alpha 3 (Goodpasture antigen)							101.0	104.0	103.0					2																	228124545		1852	4096	5948	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228124545G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1066G>A	2.37:g.228124545G>A	ENSP00000379823:p.Glu356Lys					AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	p.E356K	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	19	1228	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	356			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.1066G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	0.951	-0.706523	0.03230	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93547	-3.24	5.87	-1.5	0.08691	.	0.949938	0.08792	N	0.893011	T	0.73845	0.3639	N	0.00459	-1.475	0.09310	N	1	B;B;B;B	0.29136	0.119;0.119;0.234;0.145	B;B;B;B	0.33196	0.061;0.061;0.061;0.159	T	0.69551	-0.5115	10	0.09338	T	0.73	.	6.1849	0.20491	0.4629:0.1264:0.4107:0.0	.	356;356;356;356	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	K	356	ENSP00000379823:E356K	ENSP00000323334:E356K	E	+	1	0	COL4A3	227832789	0.249000	0.23941	0.033000	0.17914	0.490000	0.33462	0.070000	0.14573	-0.336000	0.08438	-1.835000	0.00590	GAA		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		26	60	0	0	0	1	0	26	60				
HRASLS2	54979	broad.mit.edu	37	11	63326054	63326054	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:63326054G>A	ENST00000255695.1	-	3	255	c.197C>T	c.(196-198)tCt>tTt	p.S66F		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	66					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCCACCACAGACAGCAGTTC	0.522																																						ENST00000255695.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(196-198)tCt>tTt		HRAS-like suppressor 2							200.0	160.0	174.0					11																	63326054		2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63326054G>A		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.197C>T	11.37:g.63326054G>A	ENSP00000255695:p.Ser66Phe						p.S66F	NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN			3	255	-			66					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.197C>T	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560803	0.13498	.	.	ENSG00000133328	ENST00000255695	T	0.23348	1.91	4.28	-2.06	0.07298	NC (1);	0.479258	0.20555	N	0.090026	T	0.19565	0.0470	L	0.33245	0.995	0.09310	N	1	P	0.41366	0.747	P	0.45753	0.492	T	0.15407	-1.0438	10	0.42905	T	0.14	-19.9265	7.3947	0.26929	0.0:0.3747:0.2415:0.3838	.	66	Q9NWW9	HRSL2_HUMAN	F	66	ENSP00000255695:S66F	ENSP00000255695:S66F	S	-	2	0	HRASLS2	63082630	0.000000	0.05858	0.067000	0.19924	0.147000	0.21601	-1.700000	0.01905	-0.125000	0.11703	0.563000	0.77884	TCT		0.522	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		80	84	0	0	0	1	0	80	84				
OR4F5	79501	broad.mit.edu	37	1	69561	69561	+	Silent	SNP	G	G	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:69561G>A	ENST00000335137.3	+	1	471	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGTTTGCCGTGCACTTACTCT	0.458																																						ENST00000335137.3																			0				lung(1)|ovary(1)	2						c.(469-471)gtG>gtA		olfactory receptor, family 4, subfamily F, member 5							202.0	136.0	160.0					1																	69561		1771	3074	4845	SO:0001819	synonymous_variant	79501				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:69561G>A	AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"""GPCR / Class A : Olfactory receptors"""	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.471G>A	1.37:g.69561G>A							p.V157V	NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	471	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	157					Q5VT22	Silent	SNP	ENST00000335137.3	37	c.471G>A	CCDS30547.1																																																																																				0.458	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		144	43	0	0	0	1	0	144	43				
ZCCHC11	23318	broad.mit.edu	37	1	52897049	52897049	+	Silent	SNP	A	A	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:52897049A>C	ENST00000371544.3	-	28	4606	c.4344T>G	c.(4342-4344)tcT>tcG	p.S1448S	ZCCHC11_ENST00000257177.4_Silent_p.S1449S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1448	Gln-rich.|Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCCTGGCTGAGATGAAGGCT	0.512																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4342-4344)tcT>tcG		zinc finger, CCHC domain containing 11							62.0	56.0	58.0					1																	52897049		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52897049A>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4344T>G	1.37:g.52897049A>C						ZCCHC11_ENST00000257177.4_Silent_p.S1449S	p.S1448S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			28	4606	-			1448			Gln-rich.|Pro-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.4344T>G	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.16|10.16	1.274660|1.274660	0.23307|0.23307	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000494469|ENST00000474453	.|.	.|.	.|.	5.37|5.37	-2.45|-2.45	0.06481|0.06481	.|.	.|0.553570	.|0.19218	.|N	.|0.119757	T|T	0.38852|0.38852	0.1056|0.1056	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.11767|0.11767	-1.0574|-1.0574	4|6	.|0.20519	.|T	.|0.43	.|.	5.3658|5.3658	0.16113|0.16113	0.4045:0.0:0.3805:0.215|0.4045:0.0:0.3805:0.215	.|.	.|.	.|.	.|.	R|A	21|294	.|.	.|ENSP00000433711:S294A	L|S	-|-	2|1	0|0	ZCCHC11|ZCCHC11	52669637|52669637	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.958000|0.958000	0.62258|0.62258	0.776000|0.776000	0.26704|0.26704	-0.346000|-0.346000	0.08312|0.08312	0.455000|0.455000	0.32223|0.32223	CTC|TCA		0.512	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		33	30	0	0	0	1	0	33	30				
RYR2	6262	broad.mit.edu	37	1	237837428	237837428	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:237837428G>C	ENST00000366574.2	+	59	8940	c.8623G>C	c.(8623-8625)Gat>Cat	p.D2875H	RYR2_ENST00000542537.1_Missense_Mutation_p.D2859H|RYR2_ENST00000360064.6_Missense_Mutation_p.D2873H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2875	4 X approximate repeats.				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)			GGTGCCCTATGATACACTGAC	0.418																																						ENST00000366574.2																			0				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						c.(8623-8625)Gat>Cat		ryanodine receptor 2 (cardiac)							113.0	110.0	111.0					1																	237837428		1960	4153	6113	SO:0001583	missense	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.chr1:237837428G>C	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.8623G>C	1.37:g.237837428G>C	ENSP00000355533:p.Asp2875His					RYR2_ENST00000360064.6_Missense_Mutation_p.D2873H|RYR2_ENST00000542537.1_Missense_Mutation_p.D2859H	p.D2875H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8940	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2875			4 X approximate repeats.|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8623G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337983	0.81911	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92149	-2.98;-2.98;-2.98	5.32	5.32	0.75619	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.96390	0.8822	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96827	0.9608	10	0.87932	D	0	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	2875	Q92736	RYR2_HUMAN	H	2875;2873;2859	ENSP00000355533:D2875H;ENSP00000353174:D2873H;ENSP00000443798:D2859H	ENSP00000353174:D2873H	D	+	1	0	RYR2	235904051	1.000000	0.71417	0.999000	0.59377	0.842000	0.47809	9.748000	0.98867	2.483000	0.83821	0.557000	0.71058	GAT		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	62	0	0	0	1	0	11	62				
NPHP3	27031	broad.mit.edu	37	3	132435637	132435637	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:132435637T>C	ENST00000337331.5	-	4	873	c.787A>G	c.(787-789)Ata>Gta	p.I263V	NPHP3_ENST00000326682.8_Missense_Mutation_p.I263V|NPHP3_ENST00000476742.1_5'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	263					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCACATCTATAGAACTATGG	0.433																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(787-789)Ata>Gta		nephronophthisis 3 (adolescent)							96.0	91.0	92.0					3																	132435637		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132435637T>C	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.787A>G	3.37:g.132435637T>C	ENSP00000338766:p.Ile263Val					NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000337331.5_Missense_Mutation_p.I263V	p.I263V			Q7Z494	NPHP3_HUMAN			4	863	-			263					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.787A>G	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902291	0.33628	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91740	-2.9;-2.76	5.99	3.63	0.41609	.	0.233910	0.50627	N	0.000115	D	0.89107	0.6621	M	0.64997	1.995	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83392	0.0018	10	0.48119	T	0.1	-13.373	9.1419	0.36908	0.0:0.1413:0.0:0.8587	.	263	Q7Z494	NPHP3_HUMAN	V	263	ENSP00000319909:I263V;ENSP00000338766:I263V	ENSP00000319909:I263V	I	-	1	0	NPHP3	133918327	1.000000	0.71417	0.858000	0.33744	0.996000	0.88848	4.276000	0.58933	0.535000	0.28714	0.449000	0.29647	ATA		0.433	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		25	37	0	0	0	1	0	25	37				
PKHD1L1	93035	broad.mit.edu	37	8	110466951	110466951	+	Splice_Site	SNP	G	G	C			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr8:110466951G>C	ENST00000378402.5	+	45	6848		c.e45-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCTTTTGCAGATTGGAACAG	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e45-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							147.0	140.0	142.0					8																	110466951		1958	4157	6115	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110466951G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6745-1G>C	8.37:g.110466951G>C		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		45	6848	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37		CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558109	0.65538	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6144	0.88064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110536127	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.111000	0.64628	2.832000	0.97577	0.655000	0.94253	.		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	50	62	0	0	0	1	0	50	62				
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)								c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58.0	58.0	58.0					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T						ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	181	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		4	32	0	0	0	1	0	4	32				
C6orf211	79624	broad.mit.edu	37	6	151785676	151785676	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:151785676C>T	ENST00000367294.3	+	4	740	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	C6orf211_ENST00000545879.1_Missense_Mutation_p.H42Y|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	161			H -> P (in dbSNP:rs36037706).							breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTTATGTACTCACCTGCAACA	0.333																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(481-483)Cac>Tac		chromosome 6 open reading frame 211							78.0	75.0	76.0					6																	151785676		2202	4297	6499	SO:0001583	missense	79624						protein binding	g.chr6:151785676C>T	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.481C>T	6.37:g.151785676C>T	ENSP00000356263:p.His161Tyr					C6orf211_ENST00000545879.1_Missense_Mutation_p.H42Y|C6orf211_ENST00000483931.1_3'UTR	p.H161Y	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	740	+			161		H -> P (in dbSNP:rs36037706).			Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.481C>T	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.226874	0.01518	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.05855	3.38;3.38	5.64	-2.34	0.06704	Domain of unknown function DUF89 (2);	0.332009	0.32608	N	0.005861	T	0.00666	0.0022	N	0.03903	-0.33	0.36011	D	0.838091	B	0.02656	0.0	B	0.06405	0.002	T	0.48019	-0.9071	10	0.02654	T	1	.	12.7157	0.57113	0.0:0.2269:0.0:0.7731	.	161	Q9H993	CF211_HUMAN	Y	161;42	ENSP00000356263:H161Y;ENSP00000444121:H42Y	ENSP00000356263:H161Y	H	+	1	0	C6orf211	151827369	0.011000	0.17503	0.063000	0.19743	0.378000	0.30076	0.055000	0.14229	-0.423000	0.07394	-0.355000	0.07637	CAC		0.333	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		6	20	0	0	0	1	0	6	20				
CATSPER4	378807	broad.mit.edu	37	1	26528988	26528989	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr1:26528988_26528989delCT	ENST00000456354.2	+	10	1441_1442	c.1374_1375delCT	c.(1372-1377)gactctfs	p.S461fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	461					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTCATGACTCTAGCTCACA	0.554																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(1372-1377)gactfs		cation channel, sperm associated 4																																				SO:0001589	frameshift_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26528988_26528989delCT	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1374_1375delCT	1.37:g.26528990_26528991delCT	ENSP00000390423:p.Ser461fs						p.DS458fs	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	10	1441_1442	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	458					A1A4W6|Q5VY71	Frame_Shift_Del	DEL	ENST00000456354.2	37	c.1374_1375delCT	CCDS30645.1																																																																																				0.554	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		8	8						8	8	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585095	175585095	+	RNA	DEL	T	T	-	rs112662182	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr2:175585095delT	ENST00000442996.1	+	0	217																											AAAAAAAAAATTTCTCTTCTT	0.373																																						ENST00000442996.1																			0																																																			440926							g.chr2:175585095delT																													2.37:g.175585095delT														0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.373	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			4	9						4	9	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78763559	78763559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:78763559delG	ENST00000464233.1	-	8	1146	c.1033delC	c.(1033-1035)ctgfs	p.L345fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.L306fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.L306fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.L306fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	345	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAACAGTCAGAGTAGCAGAT	0.388																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(916-918)tgfs		roundabout, axon guidance receptor, homolog 1 (Drosophila)							104.0	102.0	103.0					3																	78763559		1950	4158	6108	SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78763559delG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1033delC	3.37:g.78763559delG	ENSP00000420321:p.Leu345fs					ROBO1_ENST00000467549.1_Frame_Shift_Del_p.L306fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.L345fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.L306fs	p.L306fs			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	6	1913	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	345			Ig-like C2-type 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.916delC	CCDS54611.1																																																																																				0.388	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		19	17						19	17	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121414722	121414724	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr3:121414722_121414724delGAA	ENST00000340645.5	-	13	4756_4758	c.4631_4633delTTC	c.(4630-4635)cttcaa>caa	p.L1544del	GOLGB1_ENST00000393667.3_In_Frame_Del_p.L1549del	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1544					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTCTTCTTGAAGAAGAGCTAA	0.414																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(4645-4650)caa>c		golgin B1																																				SO:0001651	inframe_deletion	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414722_121414724delGAA	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4631_4633delTTC	3.37:g.121414725_121414727delGAA	ENSP00000341848:p.Leu1544del					GOLGB1_ENST00000340645.5_In_Frame_Del_p.LQ1544del	p.LQ1549del	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4756_4758	-			1544					B2ZZ91|D3DN92|E7EP74|Q14398	In_Frame_Del	DEL	ENST00000340645.5	37	c.4646_4648delTTC	CCDS3004.1																																																																																				0.414	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		25	123						25	123	---	---	---	---
SLC22A23	63027	broad.mit.edu	37	6	3290057	3290058	+	Frame_Shift_Ins	INS	-	-	A	rs146003925	byFrequency	TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr6:3290057_3290058insA	ENST00000406686.3	-	6	1252_1253	c.1253_1254insT	c.(1252-1254)atcfs	p.I418fs	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Frame_Shift_Ins_p.I137fs|SLC22A23_ENST00000490273.1_Frame_Shift_Ins_p.I137fs|SLC22A23_ENST00000436008.2_Frame_Shift_Ins_p.I418fs	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	418					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CCACCTTCACGATGCAGACCTT	0.599																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1252-1254)agtfs		solute carrier family 22, member 23																																				SO:0001589	frameshift_variant	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3290057_3290058insA	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1254dupT	6.37:g.3290058_3290058dupA	ENSP00000385028:p.Ile418fs					PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Frame_Shift_Ins_p.S137fs|SLC22A23_ENST00000490273.1_Frame_Shift_Ins_p.S137fs|SLC22A23_ENST00000406686.3_Frame_Shift_Ins_p.S418fs	p.S418fs			A1A5C7	S22AN_HUMAN			6	1715_1716	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	418					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Frame_Shift_Ins	INS	ENST00000406686.3	37	c.1253_1254insT	CCDS47363.1																																																																																				0.599	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		34	20						34	20	---	---	---	---
RP11-340I6.7	0	broad.mit.edu	37	7	63351409	63351409	+	lincRNA	DEL	G	G	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:63351409delG	ENST00000587736.1	-	0	688																											CCACCCCAATGGCCCAGGGGG	0.627																																						ENST00000587736.1																			0																																																			0							g.chr7:63351409delG																													7.37:g.63351409delG														0	688	-									RNA	DEL	ENST00000587736.1	37																																																																																						0.627	RP11-340I6.7-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447757.1			3	4						3	4	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-	rs200675201		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313																																						ENST00000390184.1																			0																																																			0							g.chr7:88269891delT																													7.37:g.88269891delT														0	57	+									RNA	DEL	ENST00000390184.1	37																																																																																						0.313	AC006988.1-201	NOVEL	basic	miRNA	miRNA				4	7						4	7	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974695	21974696	+	Frame_Shift_Ins	INS	-	-	TAAC			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:21974695_21974696insTAAC	ENST00000304494.5	-	1	401_402	c.131_132insGTTA	c.(130-132)tacfs	p.Y44fs	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.Y44fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.G45del(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCGG	0.683		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1348	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(3)|Deletion - In frame(2)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.G45del(1)|p.Y44S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(151)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI056876|CI075603|CM980323	CDKN2A	I|M		c.(130-132)tggfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974695_21974696insTAAC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.128_131dupGTTA	9.37:g.21974696_21974699dupTAAC	ENSP00000307101:p.Tyr44fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.W44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	p.W44fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	401_402	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	44					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.131_132insGTTA	CCDS6510.1																																																																																				0.683	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		78	102						78	102	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121929931	121929931	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr9:121929931delC	ENST00000265922.3	-	8	2178	c.1717delG	c.(1717-1719)gagfs	p.E573fs	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	573					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TTCCAGCCCTCCGAATGGCTC	0.557																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1717-1719)agfs									43.0	45.0	44.0					9																	121929931		2203	4297	6500	SO:0001589	frameshift_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929931delC	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1717delG	9.37:g.121929931delC	ENSP00000265922:p.Glu573fs					DBC1_ENST00000482797.1_Intron	p.E573fs	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2178	-			573					Q6IPV6|Q6P1A0|Q8WU22	Frame_Shift_Del	DEL	ENST00000265922.3	37	c.1717delG	CCDS6822.1																																																																																				0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		30	39						30	39	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66359859	66359863	+	Frame_Shift_Del	DEL	GGATA	GGATA	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr11:66359859_66359863delGGATA	ENST00000333861.3	-	1	691_695	c.624_628delTATCC	c.(622-630)cctatccccfs	p.PIP208fs	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	208					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGAGGCCAGGGGATAGGGCACAGCT	0.605																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(622-630)ccccfs		coiled-coil domain containing 87																																				SO:0001589	frameshift_variant	55231							g.chr11:66359859_66359863delGGATA	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.624_628delTATCC	11.37:g.66359859_66359863delGGATA	ENSP00000328487:p.Pro208fs						p.PIP208fs	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	691_695	-			208					Q8NE76	Frame_Shift_Del	DEL	ENST00000333861.3	37	c.624_628delTATCC	CCDS8145.1																																																																																				0.605	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		11	59						11	59	---	---	---	---
TCHP	84260	broad.mit.edu	37	12	110350876	110350877	+	Splice_Site	INS	-	-	G			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr12:110350876_110350877insG	ENST00000312777.5	+	10	1347_1348	c.1133_1134insG	c.(1132-1137)gaggtt>gaGggtt	p.V379fs	TCHP_ENST00000405876.4_Splice_Site_p.V379fs	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTGATGAGCGAGGTAATCCCAG	0.604																																						ENST00000312777.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.e10+1		trichoplein, keratin filament binding																																				SO:0001630	splice_region_variant	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110350876_110350877insG	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1134+1->G	12.37:g.110350878_110350878dupG						TCHP_ENST00000405876.4_Splice_Site_p.G378_splice	p.G378_splice	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN			10	1347_1348	+			378			Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.			Splice_Site	INS	ENST00000312777.5	37	c.1134_splice	CCDS9137.1																																																																																				0.604	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300	Frame_Shift_Ins	45	15						45	15	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			3	3						3	3	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450787	23450788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr14:23450787_23450788insA	ENST00000262713.2	-	1	1063_1064	c.688_689insT	c.(688-690)tcgfs	p.S230fs	AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.S230fs|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	230	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CGGGGGATACGAGTGGCGGCTT	0.743																																						ENST00000262713.2																			0											c.(688-690)gtafs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450787_23450788insA	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.689dupT	14.37:g.23450788_23450788dupA	ENSP00000262713:p.Ser230fs					AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.V230fs|RP11-298I3.5_ENST00000555074.1_Intron	p.V230fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1063_1064	-			230			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.688_689insT	CCDS9581.1																																																																																				0.743	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			12	2						12	2	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68771348	68771350	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr16:68771348_68771350delGCT	ENST00000261769.5	+	1	221_223	c.30_32delGCT	c.(28-33)gcgctg>gcg	p.L15del	CDH1_ENST00000422392.2_In_Frame_Del_p.L15del	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	15					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.L8fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCTCGGCGCTGCTGCTGCTG	0.764			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		3	Unknown(2)|Deletion - Frameshift(1)	p.?(2)|p.L8fs*41(1)	breast(3)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(28-33)gcg>gc		cadherin 1, type 1, E-cadherin (epithelial)				13,2315		3,7,1154						1.9	0.0			2	20,5078		2,16,2531	no	coding	CDH1	NM_004360.3		5,23,3685	A1A1,A1R,RR		0.3923,0.5584,0.4444				33,7393				SO:0001651	inframe_deletion	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68771348_68771350delGCT	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.30_32delGCT	16.37:g.68771357_68771359delGCT	ENSP00000261769:p.Leu15del					CDH1_ENST00000422392.2_In_Frame_Del_p.AL10del	p.AL10del	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	1	221_223	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	10	A -> G (in Ref. 3; AAA61259).				A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	In_Frame_Del	DEL	ENST00000261769.5	37	c.30_32delGCT	CCDS10869.1																																																																																				0.764	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578376	7578379	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs150607408		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:7578376_7578379delCTAT	ENST00000269305.4	-	5	740_743	c.551_554delATAG	c.(550-555)gatagcfs	p.DS184fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.DS184fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DS184fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	184	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S185fs*62(3)|p.R174fs*24(3)|p.S185G(2)|p.?(2)|p.D184D(2)|p.V173fs*59(2)|p.R42fs*24(1)|p.S185T(1)|p.D184fs*2(1)|p.S185fs*63(1)|p.R81fs*24(1)|p.E180_S183del(1)|p.D184fs*62(1)|p.S185C(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.S185_D186delSD(1)|p.S185I(1)|p.S185N(1)|p.D184fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCACCATCGCTATCTGAGCAGCG	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		36	Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - In frame(2)|Insertion - Frameshift(2)|Unknown(2)|Substitution - coding silent(2)	p.0?(8)|p.S185fs*62(3)|p.R174fs*24(3)|p.S185G(2)|p.?(2)|p.D184D(2)|p.V173fs*59(2)|p.R42fs*24(1)|p.S185T(1)|p.D184fs*2(1)|p.S185fs*63(1)|p.R81fs*24(1)|p.E180_S183del(1)|p.D184fs*62(1)|p.S185C(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.S185_D186delSD(1)|p.S185I(1)|p.S185N(1)|p.D184fs*24(1)	upper_aerodigestive_tract(6)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|urinary_tract(3)|lung(3)|breast(3)|oesophagus(3)|central_nervous_system(2)|cervix(1)|large_intestine(1)|biliary_tract(1)|ovary(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD031545	TP53	D		c.(550-555)gcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578376_7578379delCTAT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.551_554delATAG	17.37:g.7578376_7578379delCTAT	ENSP00000269305:p.Asp184fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.DS184fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.DS184fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.DS184fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.DS184fs	p.DS184fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	683_686	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	184		D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.551_554delATAG	CCDS11118.1																																																																																				0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	27						46	27	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29192759	29192760	+	Frame_Shift_Ins	INS	-	-	CAAC			TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr17:29192759_29192760insCAAC	ENST00000321990.4	+	11	3552_3553	c.3174_3175insCAAC	c.(3175-3177)caafs	p.-1060fs	RP13-753N3.1_ENST00000584157.1_RNA|CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q1059*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGAAAAGTATCAACCTCAGAC	0.292																																						ENST00000321990.4																			1	Substitution - Nonsense(1)	p.Q1059*(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3172-3177)taaaccfs		ATPase family, AAA domain containing 5																																				SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29192759_29192760insCAAC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3175_3178dupCAAC	17.37:g.29192760_29192763dupCAAC	ENSP00000313171:p.Pro1060fs						p.*T1058fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			11	3552_3553	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1058					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Ins	INS	ENST00000321990.4	37	c.3174_3175insCAAC	CCDS11260.1																																																																																				0.292	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		18	46						18	46	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11942632	11942633	+	Frame_Shift_Del	DEL	TA	TA	-	rs377570810		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr19:11942632_11942633delTA	ENST00000304060.5	+	4	805_806	c.641_642delTA	c.(640-642)ttafs	p.L214fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTCTCAGATTATATCTTATCC	0.361																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(640-642)tfs		zinc finger protein 440																																				SO:0001589	frameshift_variant	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942632_11942633delTA	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.641_642delTA	19.37:g.11942634_11942635delTA	ENSP00000305373:p.Leu214fs						p.L214fs	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	805_806	+			214					Q8N1R9	Frame_Shift_Del	DEL	ENST00000304060.5	37	c.641_642delTA	CCDS42503.1																																																																																				0.361	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		24	41						24	41	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61680511	61680512	+	lincRNA	INS	-	-	CT	rs373894254		TCGA-BB-A5HY-01A-11D-A28R-08	TCGA-BB-A5HY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67ed1c43-d2b9-4d20-a029-cb67c8a768f3	11734ad8-bd26-4775-8f11-817540997c65	g.chr20:61680511_61680512insCT	ENST00000607802.1	+	0	91				LINC01056_ENST00000455711.1_lincRNA	NR_033370.1																						tcctcttcctccctcctcttcc	0.609																																						ENST00000607802.1																			0																																																			63930							g.chr20:61680511_61680512insCT																													20.37:g.61680511_61680512insCT						RP11-305P22.5_ENST00000455711.1_lincRNA		NR_033370.1						0	91	+									RNA	INS	ENST00000607802.1	37																																																																																						0.609	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			2	4						2	4	---	---	---	---
