#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
NIN	51199	broad.mit.edu	37	14	51243678	51243678	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:51243678C>T	ENST00000382041.3	-	7	845	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	NIN_ENST00000453196.1_Missense_Mutation_p.V219M|NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000245441.5_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	219	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTCCATCCACATTCTGTAAA	0.463			T	PDGFRB	MPD																																	ENST00000245441.5		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(655-657)Gtg>Atg	ninein (GSK3B interacting protein)						112.0	103.0	106.0					14																	51243678		2203	4300	6503	SO:0001583	missense	51199			centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51243678C>T	AF212162	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			2013-01-10			ENSG00000100503	ENSG00000100503	ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	"""EF-hand domain containing"""	14906	14906	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608684	608684						11004522, 11162463	11004522, 11162463	Standard	Standard	NM_020921	NM_020921		Approved		uc001wyi.3	uc001wyi.3	Q8N4C6	Q8N4C6	OTTHUMG00000029569	OTTHUMG00000029569	ENST00000382041.3:c.655G>A	14.37:g.51243678C>T	ENSP00000371472:p.Val219Met		NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382041.3_Missense_Mutation_p.V219M|NIN_ENST00000453196.1_Missense_Mutation_p.V219M	p.V219M	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN			7	845	-	all_epithelial(31;0.00244)|Breast(41;0.127)		219	EF-hand 4.	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.655G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496083	0.26774	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;2.94	5.76	2.63	0.31362	5.76	2.63	0.31362	EF-hand-like domain (1);	0.820569	0.11182	N	0.590829	T	0.38241	0.1033	N	0.19112	0.55	0.09310	N	1	P;P;D;P;P	0.57257	0.944;0.953;0.979;0.664;0.928	P;P;D;B;P	0.63877	0.757;0.812;0.919;0.22;0.79	T	0.16719	-1.0393	10	0.66056	D	0.02	-2.8812	5.2241	0.15385	0.1291:0.5465:0.0:0.3244	.	225;219;219;219;219	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	219;219;219;219;225;219;219;219;181	ENSP00000245441:V219M;ENSP00000374518:V219M;ENSP00000371474:V219M;ENSP00000371472:V219M;ENSP00000324210:V219M;ENSP00000412391:V219M;ENSP00000398641:V181M	ENSP00000245441:V219M	V	-	1	0	0	NIN	50313428	50313428	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.169000	0.09911	0.289000	0.22422	-0.150000	0.13652	GTG		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		135.353575	-7	-7	99	99	NM_182946		45	136.07715	136.077150	64	0.412844	0	0	0	1	0	45	64	0.412844
PCCA	5095	broad.mit.edu	37	13	101020822	101020822	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:101020822G>A	ENST00000376285.1	+	19	1778	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PCCA_ENST00000376286.4_Silent_p.V554V|PCCA_ENST00000376279.3_Silent_p.V580V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	580					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATGGGTCAGTGTTCTCGGTGA	0.358																																						ENST00000376285.1											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1738-1740)gtG>gtA	propionyl CoA carboxylase, alpha polypeptide						151.0	139.0	143.0					13																	101020822		2203	4300	6503	SO:0001819	synonymous_variant	5095			fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:101020822G>A	X14608	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	ENSG00000175198	ENSG00000175198	6.4.1.3			8653	8653	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			232000	232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""		"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	1427880	Standard	Standard	NM_000282	NM_000282		Approved		uc001voo.3	uc001voo.3	P05165	P05165	OTTHUMG00000017284	OTTHUMG00000017284	ENST00000376285.1:c.1740G>A	13.37:g.101020822G>A			PCCA_ENST00000376279.3_Silent_p.V580V|PCCA_ENST00000376286.4_Silent_p.V554V	p.V580V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			19	1778	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		580		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.1740G>A	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409045	0.01155	.	.	ENSG00000175198	ENST00000458283;ENST00000413170	T;T	0.80214	-1.35;-1.35	4.77	-8.06	0.01102	4.77	-8.06	0.01102	.	0.721442	0.13129	N	0.411609	T	0.69700	0.3140	.	.	.	0.41553	D	0.988585	.	.	.	.	.	.	T	0.62224	-0.6899	7	0.34782	T	0.22	.	2.9267	0.05786	0.4481:0.1119:0.3308:0.1092	.	.	.	.	I	33;24	ENSP00000390850:V33I;ENSP00000411194:V24I	ENSP00000411194:V24I	V	+	1	0	0	PCCA	99818823	99818823	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.532000	0.02217	-1.733000	0.01357	-1.010000	0.02471	GTT		0.358	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		110.290766	-9	-9	44	44			36	110.425881	110.425881	43	0.455696	0	0	0	1	0	36	43	0.455696
TTN	7273	broad.mit.edu	37	2	179437657	179437657	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:179437657G>A	ENST00000591111.1	-	276	68503	c.68279C>T	c.(68278-68280)gCc>gTc	p.A22760V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A24401V|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15336V			Q8WZ42	TITIN_HUMAN	titin	22760	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GGAATTCATGGCATAGATGCG	0.488																																						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.(73201-73203)gCc>gTc	titin						86.0	88.0	87.0					2																	179437657		1970	4149	6119	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437657G>A	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.68279C>T	2.37:g.179437657G>A	ENSP00000465570:p.Ala22760Val		TTN_ENST00000460472.2_Missense_Mutation_p.A15336V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN_ENST00000591111.1_Missense_Mutation_p.A22760V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.A24401V	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)		326	73426	-			22760	Fibronectin type-III 77.	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.73202C>T		.	.	.	.	.	.	.	.	.	.	G	15.79	2.937889	0.52972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.91	5.91	0.95273	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88463	0.6443	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.92146	0.5724	9	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	15336;15461;15528;22760	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	21833;15336;15528;15461;15334	ENSP00000343764:A21833V;ENSP00000434586:A15336V;ENSP00000340554:A15528V;ENSP00000352154:A15461V	ENSP00000340554:A15528V	A	-	2	0	0	TTN	179145903	179145903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.813000	0.96785	0.655000	0.94253	GCC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		-0.507131	-15	-15	28	28	NM_133378		3	6.640546	6.640546	36	0.076923	0	0	0	1	0	3	36	0.076923
RYR2	6262	broad.mit.edu	37	1	237947564	237947564	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000360064.6_Silent_p.E4190E|RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184					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)			GAGAGAAAGAGAAGATGGAAC	0.507																																						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.(12550-12552)gaG>gaA	ryanodine receptor 2 (cardiac)						86.0	90.0	89.0					1																	237947564		1986	4185	6171	SO:0001819	synonymous_variant	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.chr1:237947564G>A	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.12552G>A	1.37:g.237947564G>A			RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E4190E	p.E4184E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12869	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4184		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12552G>A	CCDS55691.1																																																																																									0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		94.711548	-1	-1	96	96	NM_001035		31	95.203522	95.203522	44	0.413333	0	0	0	1	0	31	44	0.413333
NRXN1	9378	broad.mit.edu	37	2	51255230	51255230	+	Missense_Mutation	SNP	C	C	T	rs202205785		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:51255230C>T	ENST00000406316.2	-	2	1658	c.182G>A	c.(181-183)cGc>cAc	p.R61H	NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	61	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGGCGCTGCGAGTCTTGAG	0.672																																						ENST00000404971.1											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(181-183)cGc>cAc	neurexin 1						10.0	14.0	13.0					2																	51255230		1987	4148	6135	SO:0001583	missense	9378			adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255230C>T	AB011150	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			2008-05-15			ENSG00000179915	ENSG00000179915	ENSG00000179915	ENSG00000179915				8008	8008	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600565	600565								Standard	Standard	NM_001135659	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	uc021vhj.1	P58400	P58400	OTTHUMG00000129263	OTTHUMG00000129263	ENST00000406316.2:c.182G>A	2.37:g.51255230C>T	ENSP00000384311:p.Arg61His		NRXN1_ENST00000406316.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H	p.R61H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1521	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	61	Laminin G-like 1.	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.182G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857806	0.51376	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.97	4.97	0.65823	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.041320	0.07849	U	0.964350	T	0.67050	0.2852	L	0.33485	1.01	0.27730	N	0.944834	B;B;P	0.50066	0.003;0.012;0.931	B;B;B	0.38378	0.005;0.005;0.272	T	0.55425	-0.8143	10	0.21540	T	0.41	.	11.7028	0.51581	0.0:0.9186:0.0:0.0814	.	61;61;61	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	H	61	ENSP00000385142:R61H;ENSP00000384311:R61H;ENSP00000434015:R61H;ENSP00000385017:R61H;ENSP00000385434:R61H;ENSP00000385681:R61H;ENSP00000385310:R61H	ENSP00000385017:R61H	R	-	2	0	0	NRXN1	51108734	51108734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.690000	0.61731	2.293000	0.77203	0.563000	0.77884	CGC		0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		33.421350	6	6	15	15			11	33.623171	33.623171	16	0.407407	0	0	0	1	0	11	16	0.407407
PER1	5187	broad.mit.edu	37	17	8044505	8044505	+	Missense_Mutation	SNP	C	C	T	rs535590026		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:8044505C>T	ENST00000317276.4	-	23	3991	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1252	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTCCTCGCAGCCCTCT	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					C|||	1	0.000199681	0.0008	0.0	5008	,	,		18704	0.0		0.0	False		,,,				2504	0.0					ENST00000317276.4		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3754-3756)Gag>Aag	period circadian clock 1						140.0	152.0	148.0					17																	8044505		2203	4300	6503	SO:0001583	missense	5187			circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8044505C>T	AB002107	AB002107	CCDS11131.1	CCDS11131.1	17p13.1	2012-12-13	2012-12-13		2012-12-13	2012-12-13			ENSG00000179094		ENSG00000179094				8845	8845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602260	602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	9323128	Standard	Standard	NM_002616	NM_002616		Approved	RIGUI	uc002gkd.3	uc002gkd.3	O15534	O15534			ENST00000317276.4:c.3754G>A	17.37:g.8044505C>T	ENSP00000314420:p.Glu1252Lys		PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	p.E1252K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			23	3991	-			1252	CRY binding domain (By similarity).	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3754G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	6.619	0.482655	0.12581	.	.	ENSG00000179094	ENST00000317276	T	0.12879	2.64	3.79	1.78	0.24846	3.79	1.78	0.24846	.	1.104460	0.06956	N	0.815542	T	0.04907	0.0132	N	0.14661	0.345	0.19300	N	0.999979	P;B	0.43352	0.804;0.043	B;B	0.19946	0.027;0.012	T	0.25187	-1.0139	10	0.12766	T	0.61	-2.0E-4	5.7603	0.18196	0.0:0.7549:0.0:0.2451	.	1243;1252	A2I2P6;O15534	.;PER1_HUMAN	K	1252	ENSP00000314420:E1252K	ENSP00000314420:E1252K	E	-	1	0	0	PER1	7985230	7985230	0.000000	0.05858	0.103000	0.21229	0.127000	0.20565	-0.083000	0.11286	0.578000	0.29487	0.491000	0.48974	GAG		0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		197.366121	-41	-41	206	206			59	203.846041	203.846041	14	0.808219	0	0	0	1	0	59	14	0.808219
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		51.939996	5	5	86	86	NM_002067		18	52.33376	52.333760	27	0.400000	0	0	0	1	0	18	27	0.4
ZNF20	7568	broad.mit.edu	37	19	12244189	12244189	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:12244189C>T	ENST00000334213.5	-	4	1036	c.812G>A	c.(811-813)cGt>cAt	p.R271H	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	271					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(1)|lung(6)	8						TTTATGTCTACGAATTTCACT	0.398																																						ENST00000334213.5											0			endometrium(1)|kidney(1)|lung(6)	8						c.(811-813)cGt>cAt	zinc finger protein 20						75.0	80.0	78.0					19																	12244189		2195	4299	6494	SO:0001583	missense	7568			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244189C>T	X52344	X52344	CCDS45986.1	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010	ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	12992	12992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			194557	194557	"""zinc finger protein 20 (KOX 13)"""		"""zinc finger protein 20 (KOX 13)"""					Standard	Standard	NM_021143	NM_021143		Approved	KOX13	uc002mtf.2	uc002mtf.2	P17024	P17024	OTTHUMG00000156409	OTTHUMG00000156409	ENST00000334213.5:c.812G>A	19.37:g.12244189C>T	ENSP00000335437:p.Arg271His		ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	p.R271H	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	1036	-			271		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.812G>A	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	2.249	-0.372079	0.05034	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.08102	3.13	1.09	-2.17	0.07059	1.09	-2.17	0.07059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.47190	1.495	0.09310	N	1	B	0.27316	0.175	B	0.12837	0.008	T	0.44406	-0.9330	9	0.17832	T	0.49	.	0.2282	0.00177	0.2049:0.2427:0.2042:0.3482	.	271	P17024	ZNF20_HUMAN	H	271	ENSP00000335437:R271H	ENSP00000292241:R271H	R	-	2	0	0	ZNF20	12105189	12105189	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-1.041000	0.03542	-1.161000	0.02800	-0.671000	0.03813	CGT		0.398	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1		57.113080	-9	-9	67	67	NM_021143		19	57.840348	57.840348	32	0.372549	0	0	0	1	0	19	32	0.372549
POLK	51426	broad.mit.edu	37	5	74892575	74892575	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:74892575A>C	ENST00000241436.4	+	13	2229	c.2057A>C	c.(2056-2058)tAt>tCt	p.Y686S	POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	686					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGCAAGATTATGAAGCCCAT	0.318								DNA polymerases (catalytic subunits)																														ENST00000241436.4											0			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(2056-2058)tAt>tCt	polymerase (DNA directed) kappa						37.0	36.0	36.0					5																	74892575		2202	4300	6502	SO:0001583	missense	51426			DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892575A>C	AB027564	AB027564	CCDS4030.1	CCDS4030.1	5q13	2012-05-18			2012-05-18			ENSG00000122008	ENSG00000122008	ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	"""DNA polymerases"""	9183	9183	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650	605650		DINB1		DINB1		10887153, 10518552	10887153, 10518552	Standard	Standard	NM_016218	NM_016218		Approved	POLQ, DINP	uc003kdw.3	uc003kdw.3	Q9UBT6	Q9UBT6	OTTHUMG00000102107	OTTHUMG00000102107	ENST00000241436.4:c.2057A>C	5.37:g.74892575A>C	ENSP00000241436:p.Tyr686Ser		POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S	p.Y686S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2229	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	686		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2057A>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472608	0.26423	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.53857	1.36;0.6;0.6;1.36	5.33	-2.43	0.06522	5.33	-2.43	0.06522	.	1.321200	0.04860	N	0.443877	T	0.39226	0.1070	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14337	-1.0476	10	0.25751	T	0.34	-0.0106	0.6121	0.00763	0.2808:0.3092:0.155:0.255	.	488;686	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	S	686;488;488;596	ENSP00000241436:Y686S;ENSP00000342256:Y488S;ENSP00000426853:Y488S;ENSP00000369848:Y596S	ENSP00000241436:Y686S	Y	+	2	0	0	POLK	74928331	74928331	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-0.276000	0.08514	-0.120000	0.11809	0.533000	0.62120	TAT		0.318	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		19.614687	10	10	39	39	NM_016218		7	20.702367	20.702367	18	0.280000	0	0	0	1	0	7	18	0.28
DYNC2H1	79659	broad.mit.edu	37	11	103175411	103175411	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:103175411T>A	ENST00000375735.2	+	77	11488	c.11344T>A	c.(11344-11346)Tta>Ata	p.L3782I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3782	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTGAAGAACTTACATCTTGT	0.393																																						ENST00000375735.2											0			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11344-11346)Tta>Ata	dynein, cytoplasmic 2, heavy chain 1						99.0	99.0	99.0					11																	103175411		1874	4108	5982	SO:0001583	missense	79659			cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103175411T>A	AB082528	AB082528	CCDS44717.1, CCDS53701.1	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	"""Cytoplasmic dyneins"""	2962	2962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603297	603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	9763680, 9373155	Standard	Standard	NM_001080463	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	uc001phn.1	Q8NCM8	Q8NCM8	OTTHUMG00000165941	OTTHUMG00000165941	ENST00000375735.2:c.11344T>A	11.37:g.103175411T>A	ENSP00000364887:p.Leu3782Ile		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I	p.L3782I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	77	11488	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3782	AAA 6 (By similarity).	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11344T>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927336	0.73327	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.05580	3.42;3.42	5.37	4.24	0.50183	5.37	4.24	0.50183	Dynein heavy chain (1);	0.000000	0.64402	D	0.000002	T	0.16257	0.0391	M	0.67700	2.07	0.58432	D	0.999996	D;D	0.71674	0.998;0.997	D;D	0.67382	0.951;0.919	T	0.03325	-1.1048	10	0.22109	T	0.4	.	7.423	0.27083	0.0:0.1523:0.0:0.8477	.	3782;3789	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3782;3789;28	ENSP00000364887:L3782I;ENSP00000381167:L3789I	ENSP00000364887:L3782I	L	+	1	2	2	DYNC2H1	102680621	102680621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.722000	0.54948	2.170000	0.68504	0.533000	0.62120	TTA		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		111.617411	-3	-3	61	61	XM_370652		35	111.629915	111.629915	33	0.514706	0	0	0	1	0	35	33	0.514706
OR4M2	390538	broad.mit.edu	37	15	22368716	22368716	+	Silent	SNP	C	C	T	rs148996699		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:22368716C>T	ENST00000332663.2	+	1	239	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATCATTTGCACCATCAGTC	0.423																																						ENST00000332663.2											0			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(139-141)tgC>tgT	olfactory receptor, family 4, subfamily M, member 2			0,4406		0,0,2203	481.0	418.0	439.0		141	1.5	1.0	15	dbSNP_134	439	1,8599		0,1,4299	no	coding-synonymous	OR4M2	NM_001004719.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		47/314	22368716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390538			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368716C>T	AC060768	AC060768	CCDS32172.1	CCDS32172.1	15q11.2	2013-09-23			2013-09-23			ENSG00000182974	ENSG00000182974	ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	15373	15373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004719	NM_001004719		Approved		uc010tzu.2	uc010tzu.2	Q8NGB6	Q8NGB6	OTTHUMG00000171738	OTTHUMG00000171738	ENST00000332663.2:c.141C>T	15.37:g.22368716C>T			RP11-69H14.6_ENST00000558896.1_RNA	p.C47C	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	239	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	47		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.141C>T	CCDS32172.1																																																																																									0.423	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		-49.501279	-260	-260	212	212			4	6.579928	6.579928	211	0.018605	0	0	0	1	0	4	211	0.018605
NACA	4666	broad.mit.edu	37	12	57113207	57113207	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:57113207T>G	ENST00000454682.1	-	3	2388	c.2107A>C	c.(2107-2109)Aca>Cca	p.T703P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	703	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTGAAGCTGTAGGAACCAAG	0.493			T	BCL6	NHL																																	ENST00000454682.1		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2107-2109)Aca>Cca	nascent polypeptide-associated complex alpha subunit						43.0	39.0	40.0					12																	57113207		1568	3582	5150	SO:0001583	missense	4666			interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113207T>G	X80909	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	ENSG00000196531	ENSG00000196531				7629	7629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601234	601234	"""nascent-polypeptide-associated complex alpha polypeptide"""		"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	8047162	Standard	Standard	NM_001113202	NM_001113202		Approved	NACA1	uc001sma.2	uc001sma.2	E9PAV3	E9PAV3			ENST00000454682.1:c.2107A>C	12.37:g.57113207T>G	ENSP00000403817:p.Thr703Pro		NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	p.T703P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2388	-			0			Missense_Mutation	SNP	ENST00000454682.1	37	c.2107A>C		.	.	.	.	.	.	.	.	.	.	T	10.10	1.258402	0.23051	.	.	ENSG00000196531	ENST00000454682	T	0.43294	0.95	3.63	-3.76	0.04359	3.63	-3.76	0.04359	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21518	-1.0243	7	.	.	.	.	1.1253	0.01733	0.2761:0.1577:0.3957:0.1705	.	703	E9PAV3	.	P	703	ENSP00000403817:T703P	.	T	-	1	0	0	NACA	55399474	55399474	0.001000	0.12720	0.246000	0.24233	0.393000	0.30537	-0.102000	0.10956	-0.412000	0.07519	0.369000	0.22263	ACA		0.493	NACA-201	KNOWN	basic	protein_coding	protein_coding			46.924342	-7	-7	24	24	NM_005594		15	46.924342	46.924342	15	0.500000	0	0	0	1	0	15	15	0.5
BTBD7	55727	broad.mit.edu	37	14	93760636	93760636	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:93760636T>G	ENST00000334746.5	-	3	1037	c.730A>C	c.(730-732)Atg>Ctg	p.M244L	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	244					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TAATAACACATGTAATCAAAG	0.388																																						ENST00000334746.5											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(730-732)Atg>Ctg	BTB (POZ) domain containing 7						77.0	74.0	75.0					14																	93760636		2203	4300	6503	SO:0001583	missense	55727						g.chr14:93760636T>G	AB040958	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			2013-01-08			ENSG00000011114	ENSG00000011114	ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	"""BTB/POZ domain containing"""	18269	18269	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610386	610386						10819331, 11527404	10819331, 11527404	Standard	Standard	NM_001289133	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	uc001ybo.3	Q9P203	Q9P203	OTTHUMG00000171269	OTTHUMG00000171269	ENST00000334746.5:c.730A>C	14.37:g.93760636T>G	ENSP00000335615:p.Met244Leu		BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L|BTBD7_ENST00000554565.1_Intron	p.M244L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	1037	-		all_cancers(154;0.08)	244		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.730A>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996998	0.54147	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.35789	1.29	5.59	5.59	0.84812	5.59	5.59	0.84812	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.36672	1.1	0.80722	D	1	B;B;P	0.40032	0.257;0.257;0.699	P;P;P	0.58130	0.557;0.455;0.833	T	0.18871	-1.0323	10	0.02654	T	1	.	15.7558	0.78021	0.0:0.0:0.0:1.0	.	244;244;244	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	L	244	ENSP00000335615:M244L	ENSP00000298896:M244L	M	-	1	0	0	BTBD7	92830389	92830389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.122000	0.65172	0.533000	0.62120	ATG		0.388	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		116.947184	2	2	80	80	NM_001002860		37	117.20877	117.208770	47	0.440476	0	0	0	1	0	37	47	0.440476
PDXDC1	23042	broad.mit.edu	37	16	15102697	15102697	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr16:15102697A>T	ENST00000396410.4	+	7	738	c.641A>T	c.(640-642)cAt>cTt	p.H214L	PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|MIR1972-1_ENST00000459337.1_RNA|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	214					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATCCCAGCATCAGATGGTG	0.438																																						ENST00000396410.4											0			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(640-642)cAt>cTt	pyridoxal-dependent decarboxylase domain containing 1						361.0	327.0	338.0					16																	15102697		2197	4300	6497	SO:0001583	missense	23042			carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15102697A>T	AK025504, BX647809	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05			2008-02-05										28995	28995	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614244	614244								Standard	Standard	XM_005255173	XM_005255173		Approved	KIAA0251	uc002dda.4	uc002dda.4	Q6P996	Q6P996	OTTHUMG00000166304	OTTHUMG00000166304	ENST00000396410.4:c.641A>T	16.37:g.15102697A>T	ENSP00000379691:p.His214Leu		PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L	p.H214L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			7	738	+			214		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.641A>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	33	5.237105	0.95240	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.8	5.8	0.92144	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	L	0.33668	1.02	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;0.996;0.999;0.998	D;D;D;D;D;D	0.79784	0.984;0.968;0.993;0.97;0.989;0.984	T	0.28299	-1.0048	10	0.18710	T	0.47	-18.0121	15.327	0.74172	1.0:0.0:0.0:0.0	.	186;123;199;214;186;214	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996	.;.;.;.;.;PDXD1_HUMAN	L	199;123;214;214;186	ENSP00000322807:H199L;ENSP00000400310:H123L;ENSP00000437835:H214L;ENSP00000379691:H214L;ENSP00000391147:H186L	ENSP00000322807:H199L	H	+	2	0	0	PDXDC1	15010198	15010198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.488000	0.90458	2.221000	0.72209	0.528000	0.53228	CAT		0.438	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2		55.959181	24	24	192	192	NM_015027		29	75.629828	75.629828	151	0.161111	0	0	0	1	0	29	151	0.161111
UTP14C	9724	broad.mit.edu	37	13	52605146	52605146	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:52605146G>T	ENST00000521776.2	+	2	2939	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	736					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCAGAGGATGTGGGCTACCA	0.478																																						ENST00000521776.2											0			breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2206-2208)Gtg>Ttg	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)						127.0	118.0	121.0					13																	52605146		2203	4300	6503	SO:0001583	missense	9724			cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52605146G>T	D87455	D87455	CCDS31978.1	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797	ENSG00000253797	ENSG00000253797				20321	20321	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608969	608969	"""KIAA0266"""	KIAA0266	"""KIAA0266"""	KIAA0266		9039502, 16354793	9039502, 16354793	Standard	Standard	NM_021645	NM_021645		Approved	2700066J21Rik	uc021rjw.1	uc021rjw.1	Q5TAP6	Q5TAP6	OTTHUMG00000164353	OTTHUMG00000164353	ENST00000521776.2:c.2206G>T	13.37:g.52605146G>T	ENSP00000428619:p.Val736Leu			p.V736L	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2939	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	736		Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.2206G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593690	0.28445	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	3.04	3.04	0.35103	3.04	3.04	0.35103	.	0.465178	0.21554	N	0.072687	T	0.13157	0.0319	N	0.22421	0.69	0.35368	D	0.788773	B	0.29481	0.245	B	0.27170	0.077	T	0.21415	-1.0246	9	.	.	.	-18.0766	11.8685	0.52507	0.0:0.0:1.0:0.0	.	736	Q5TAP6	UT14C_HUMAN	L	736	ENSP00000428619:V736L	.	V	+	1	0	0	UTP14C	51503147	51503147	0.861000	0.29849	0.993000	0.49108	0.700000	0.40528	0.658000	0.24979	1.704000	0.51252	0.455000	0.32223	GTG		0.478	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		150.667819	-3	-3	96	96	NM_021645		49	150.769112	150.769112	56	0.466667	1	0	1.61004e-24	1	1.65355e-24	49	56	0.466667
CHD1	1105	broad.mit.edu	37	5	98239547	98239547	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:98239547C>T	ENST00000284049.3	-	3	470	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	107					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	gctgctgctgctgttgctgct	0.393																																						ENST00000284049.3											0			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(319-321)caG>caA	chromodomain helicase DNA binding protein 1						104.0	99.0	100.0					5																	98239547		2203	4300	6503	SO:0001819	synonymous_variant	1105			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98239547C>T	AF006513	AF006513	CCDS34204.1	CCDS34204.1	5q15-q21	2008-07-18			2008-07-18			ENSG00000153922	ENSG00000153922	ENSG00000153922	ENSG00000153922				1915	1915	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602118	602118						8460153, 9326634	8460153, 9326634	Standard	Standard	XM_005271866	XM_005271866		Approved		uc003knf.3	uc003knf.3	O14646	O14646	OTTHUMG00000162744	OTTHUMG00000162744	ENST00000284049.3:c.321G>A	5.37:g.98239547C>T				p.Q107Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	3	470	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	107		Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.321G>A	CCDS34204.1																																																																																									0.393	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		5.076688	2	2	41	41	NM_001270		4	9.233478	9.233478	27	0.129032	0	0	0	1	0	4	27	0.129032
SBNO2	22904	broad.mit.edu	37	19	1119013	1119013	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:1119013C>T	ENST00000361757.3	-	14	1761	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	508					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCACCAGCAGGGCCGCGC	0.667																																						ENST00000361757.3											0			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1522-1524)ctG>ctA	strawberry notch homolog 2 (Drosophila)						20.0	26.0	24.0					19																	1119013		2122	4219	6341	SO:0001819	synonymous_variant	22904			macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119013C>T	AK074102	AK074102	CCDS45894.1, CCDS45895.1	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932		ENSG00000064932				29158	29158	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615729	615729	"""KIAA0963"""	KIAA0963	"""KIAA0963"""	KIAA0963		10231032	10231032	Standard	Standard	NM_014963	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	uc002lrk.4	Q9Y2G9	Q9Y2G9			ENST00000361757.3:c.1524G>A	19.37:g.1119013C>T			SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1761	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	508		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.1524G>A	CCDS45894.1																																																																																									0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2		7.020773	11	11	16	16	NM_014963		3	7.242792	7.242792	6	0.333333	0	0	0	1	0	3	6	0.333333
ANKRD27	84079	broad.mit.edu	37	19	33137370	33137370	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:33137370C>T	ENST00000306065.4	-	4	523	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	122					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AATACCTGAACTCTCTCTCTT	0.388																																						ENST00000306065.4											0			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(364-366)aGt>aAt	ankyrin repeat domain 27 (VPS9 domain)						75.0	78.0	77.0					19																	33137370		2203	4300	6503	SO:0001583	missense	84079			early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137370C>T	AK054561	AK054561	CCDS32986.1	CCDS32986.1	19q13.12	2013-01-10			2013-01-10				ENSG00000105186		ENSG00000105186		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	25310	25310	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""	"""Vps9 domain and ankyrin-repeat-containing protein"""								11230166, 16525121	11230166, 16525121	Standard	Standard	NM_032139	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	uc002ntn.1	Q96NW4	Q96NW4			ENST00000306065.4:c.365G>A	19.37:g.33137370C>T	ENSP00000304292:p.Ser122Asn		ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			4	523	-	Esophageal squamous(110;0.137)		122		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.365G>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448285	0.26074	.	.	ENSG00000105186	ENST00000306065	T	0.62232	0.04	5.24	2.92	0.33932	5.24	2.92	0.33932	.	0.275126	0.31427	N	0.007680	T	0.36110	0.0955	N	0.12182	0.205	0.09310	N	0.999996	B	0.11235	0.004	B	0.09377	0.004	T	0.11084	-1.0602	10	0.18276	T	0.48	-9.9338	5.9057	0.19001	0.0:0.5001:0.3156:0.1842	.	122	Q96NW4	ANR27_HUMAN	N	122	ENSP00000304292:S122N	ENSP00000304292:S122N	S	-	2	0	0	ANKRD27	37829210	37829210	0.994000	0.37717	0.969000	0.41365	0.988000	0.76386	0.479000	0.22228	1.183000	0.42943	0.545000	0.68477	AGT		0.388	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		45.680745	35	35	116	116	NM_032139		19	51.089035	51.089035	63	0.231707	0	0	0	1	0	19	63	0.231707
MC2R	4158	broad.mit.edu	37	18	13885229	13885229	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr18:13885229T>A	ENST00000327606.3	-	2	469	c.289A>T	c.(289-291)Agt>Tgt	p.S97C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	97					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTTTCAAAACTGCCACGTGGC	0.483																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(289-291)Agt>Tgt	melanocortin 2 receptor (adrenocorticotropic hormone)						123.0	95.0	105.0					18																	13885229		2203	4300	6503	SO:0001583	missense	0			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885229T>A			CCDS11869.1	CCDS11869.1	18p11.2	2012-08-10			2012-08-10			ENSG00000185231	ENSG00000185231	ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	"""GPCR / Class A : Melanocortin receptors"""	6930	6930	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607397	607397						8390157	8390157	Standard	Standard	NM_001291911	NM_001291911		Approved	ACTHR	uc002ksp.1	uc002ksp.1	Q01718	Q01718	OTTHUMG00000131721	OTTHUMG00000131721	ENST00000327606.3:c.289A>T	18.37:g.13885229T>A	ENSP00000333821:p.Ser97Cys			p.S97C	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	469	-			97		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.289A>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154633	0.21371	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.37584	2.06;1.19	4.47	-1.3	0.09259	4.47	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	0.838596	0.11007	N	0.609919	T	0.25680	0.0625	N	0.20845	0.615	0.09310	N	1	P	0.42518	0.782	P	0.46172	0.506	T	0.19910	-1.0291	10	0.87932	D	0	.	5.1088	0.14798	0.0:0.3521:0.2945:0.3534	.	97	Q01718	ACTHR_HUMAN	C	97	ENSP00000333821:S97C;ENSP00000382718:S97C	ENSP00000333821:S97C	S	-	1	0	0	MC2R	13875229	13875229	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.841000	0.04359	-0.065000	0.13021	0.528000	0.53228	AGT		0.483	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		125.425116	13	13	101	101			39	125.42793	125.427930	38	0.506494	0	0	0	1	0	39	38	0.506494
PCDHA9	9752	broad.mit.edu	37	5	140228118	140228118	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:140228118C>T	ENST00000532602.1	+	1	1071	c.38C>T	c.(37-39)cCt>cTt	p.P13L	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.P13L|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	13					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGTCAGCCTCTACTGCTC	0.507																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3											0			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(37-39)cCt>cTt							81.0	81.0	81.0					5																	140228118		2197	4267	6464	SO:0001583	missense	0						g.chr5:140228118C>T	AF152487	AF152487	CCDS54920.1	CCDS54920.1	5q31	2010-11-26			2010-11-26				ENSG00000204961		ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8675	8675	other	complex locus constituent	other	complex locus constituent	"""KIAA0345-like 5"""	"""KIAA0345-like 5"""	606315	606315						10380929	10380929	Standard	Standard	NM_031857	NM_031857		Approved	KIAA0345, PCDH-ALPHA9			Q9Y5H5	Q9Y5H5			ENST00000532602.1:c.38C>T	5.37:g.140228118C>T	ENSP00000436042:p.Pro13Leu		PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P13L|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	p.P13L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	762	+					O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.38C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164741	0.06502	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.48836	0.88;0.8	3.73	-6.0	0.02206	3.73	-6.0	0.02206	Cadherin (1);	.	.	.	.	T	0.14614	0.0353	N	0.02973	-0.45	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	9	0.17369	T	0.5	.	0.774	0.01029	0.2604:0.112:0.2568:0.3708	.	13;13	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	13	ENSP00000436042:P13L;ENSP00000367362:P13L	ENSP00000367362:P13L	P	+	2	0	0	PCDHA9	140208302	140208302	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.344000	0.01098	-1.019000	0.03358	-0.362000	0.07510	CCT		0.507	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		173.047817	-85	-85	72	72	NM_031857		49	182.212737	182.212737	4	0.924528	0	0	0	1	0	49	4	0.924528
SPDL1	54908	broad.mit.edu	37	5	169015526	169015526	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:169015526G>A	ENST00000265295.4	+	2	385	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAGTCAAAATGAATTACAGAA	0.408																																						ENST00000265295.4											0										c.(106-108)Gaa>Aaa	spindle apparatus coiled-coil protein 1						109.0	105.0	106.0					5																	169015526		2203	4300	6503	SO:0001583	missense	54908						g.chr5:169015526G>A	BC012568	BC012568	CCDS4370.1	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275	ENSG00000040275	ENSG00000040275				26010	26010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""	"""spindly homolog (Drosophila)"""			"""coiled-coil domain containing 99"""	CCDC99	"""coiled-coil domain containing 99"""	CCDC99		20427577	20427577	Standard	Standard	NM_017785	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	uc003mae.4	Q96EA4	Q96EA4	OTTHUMG00000130438	OTTHUMG00000130438	ENST00000265295.4:c.106G>A	5.37:g.169015526G>A	ENSP00000265295:p.Glu36Lys		SPDL1_ENST00000510751.1_3'UTR	p.E36K	NM_017785.4	NP_060255.3					2	385	+						Missense_Mutation	SNP	ENST00000265295.4	37	c.106G>A	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600100	0.46423	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.37235	1.21	5.6	3.83	0.44106	5.6	3.83	0.44106	.	0.205916	0.49916	D	0.000135	T	0.48314	0.1493	M	0.66939	2.045	0.20196	N	0.999925	D	0.69078	0.997	P	0.61800	0.894	T	0.33727	-0.9857	10	0.26408	T	0.33	-11.0134	7.7947	0.29140	0.1393:0.0:0.728:0.1327	.	36	Q96EA4	SPDLY_HUMAN	K	36	ENSP00000265295:E36K	ENSP00000265295:E36K	E	+	1	0	0	CCDC99	168948104	168948104	1.000000	0.71417	0.004000	0.12327	0.117000	0.20001	6.080000	0.71299	0.847000	0.35167	0.655000	0.94253	GAA		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2		55.147766	-1	-1	35	35	NM_017785		18	55.153665	55.153665	19	0.486486	0	0	0	1	0	18	19	0.486486
MYO7B	4648	broad.mit.edu	37	2	128324266	128324266	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:128324266C>T	ENST00000409816.2	+	4	366	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	MYO7B_ENST00000389524.4_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	112	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGTGCTGCCGCTCTACAC	0.607																																						ENST00000389524.4											0			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(334-336)Ccg>Tcg	myosin VIIB						30.0	36.0	34.0					2																	128324266		2014	4169	6183	SO:0001583	missense	4648				apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128324266C>T			CCDS46405.1	CCDS46405.1	2q21.1	2011-09-27			2011-09-27			ENSG00000169994	ENSG00000169994	ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	"""Myosins / Myosin superfamily : Class VII"""	7607	7607	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606541	606541						8022818, 8884266	8022818, 8884266	Standard	Standard	NM_001080527	NM_001080527		Approved		uc002top.3	uc002top.3	Q6PIF6	Q6PIF6	OTTHUMG00000153419	OTTHUMG00000153419	ENST00000409816.2:c.334C>T	2.37:g.128324266C>T	ENSP00000386461:p.Pro112Ser		MYO7B_ENST00000409816.2_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S	p.P112S			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	5	387	+	Colorectal(110;0.1)		112	Myosin head-like.	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.334C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110429	0.77210	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.73152	-0.72;-0.72;-0.72	5.55	5.55	0.83447	5.55	5.55	0.83447	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.77313	2.365	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.83690	0.0176	10	0.39692	T	0.17	.	19.5117	0.95144	0.0:1.0:0.0:0.0	.	112	Q6PIF6	MYO7B_HUMAN	S	112	ENSP00000374175:P112S;ENSP00000415090:P112S;ENSP00000386461:P112S	ENSP00000374175:P112S	P	+	1	0	0	MYO7B	128040736	128040736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.725000	0.84808	2.595000	0.87683	0.561000	0.74099	CCG		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		7.016162	-8	-8	13	13	XM_291001		3	8.271877	8.271877	12	0.200000	0	0	0	1	0	3	12	0.2
OR4K1	79544	broad.mit.edu	37	14	20404381	20404381	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:20404381G>A	ENST00000285600.4	+	1	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGGTGATAGAGCTGGCTTG	0.443																																						ENST00000285600.4											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(556-558)Gag>Aag	olfactory receptor, family 4, subfamily K, member 1						163.0	167.0	166.0					14																	20404381		2203	4300	6503	SO:0001583	missense	79544			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404381G>A			CCDS32025.1	CCDS32025.1	14q11.2	2013-09-23			2013-09-23			ENSG00000155249	ENSG00000155249	ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	14726	14726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004063	NM_001004063		Approved		uc001vwj.2	uc001vwj.2	Q8NGD4	Q8NGD4	OTTHUMG00000170633	OTTHUMG00000170633	ENST00000285600.4:c.556G>A	14.37:g.20404381G>A	ENSP00000285600:p.Glu186Lys			p.E186K	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	615	+	all_cancers(95;0.00108)		186		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.556G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	1.238	-0.622134	0.03636	.	.	ENSG00000155249	ENST00000285600	T	0.00019	9.06	4.82	2.75	0.32379	4.82	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.339759	0.25307	N	0.031619	T	0.00039	0.0001	N	0.00071	-2.27	0.23528	N	0.997481	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.02654	T	1	.	3.9763	0.09476	0.2626:0.1908:0.5466:0.0	.	186	Q8NGD4	OR4K1_HUMAN	K	186	ENSP00000285600:E186K	ENSP00000285600:E186K	E	+	1	0	0	OR4K1	19474221	19474221	0.000000	0.05858	1.000000	0.80357	0.883000	0.51084	0.014000	0.13333	1.049000	0.40321	0.563000	0.77884	GAG		0.443	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		148.926215	41	41	133	133			47	148.928575	148.928575	46	0.505376	0	0	0	1	0	47	46	0.505376
DYNC1H1	1778	broad.mit.edu	37	14	102498624	102498624	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:102498624A>G	ENST00000360184.4	+	52	10063	c.9899A>G	c.(9898-9900)aAg>aGg	p.K3300R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3300	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGTCGATCAAGAAGCAGCAC	0.572																																						ENST00000360184.4											0			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9898-9900)aAg>aGg	dynein, cytoplasmic 1, heavy chain 1						214.0	197.0	203.0					14																	102498624		2203	4300	6503	SO:0001583	missense	1778			cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102498624A>G	AB002323	AB002323	CCDS9966.1	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		ENSG00000197102		"""Cytoplasmic dyneins"""	"""Cytoplasmic dyneins"""	2961	2961	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600112	600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	16260502, 8666668	Standard	Standard	NM_001376	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	uc001yks.2	Q14204	Q14204			ENST00000360184.4:c.9899A>G	14.37:g.102498624A>G	ENSP00000348965:p.Lys3300Arg			p.K3300R	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			52	10063	+			3300	Stalk (By similarity).	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9899A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430806	0.62844	.	.	ENSG00000197102	ENST00000360184	T	0.74315	-0.83	5.3	5.3	0.74995	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	L	0.60455	1.87	0.80722	D	1	B	0.16166	0.016	B	0.20955	0.032	T	0.69506	-0.5127	10	0.48119	T	0.1	.	15.5463	0.76104	1.0:0.0:0.0:0.0	.	3300	Q14204	DYHC1_HUMAN	R	3300	ENSP00000348965:K3300R	ENSP00000348965:K3300R	K	+	2	0	0	DYNC1H1	101568377	101568377	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.229000	0.95273	2.135000	0.66039	0.383000	0.25322	AAG		0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		204.627978	-23	-23	330	330	NM_001376		74	218.189401	218.189401	203	0.267148	0	0	0	1	0	74	203	0.267148
THSD7B	80731	broad.mit.edu	37	2	138208465	138208465	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:138208465A>C	ENST00000409968.1	+	15	3188	c.3010A>C	c.(3010-3012)Agc>Cgc	p.S1004R	THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1004	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGCAAGTTAAGCGATTGGTC	0.388																																						ENST00000409968.1											0			NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3010-3012)Agc>Cgc	thrombospondin, type I, domain containing 7B						108.0	103.0	105.0					2																	138208465		1850	4119	5969	SO:0001583	missense	80731						g.chr2:138208465A>C					2q22.1	2006-11-24			2006-11-24			ENSG00000144229	ENSG00000144229	ENSG00000144229	ENSG00000144229				29348	29348	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11214970	11214970	Standard	Standard	NM_001080427	NM_001080427		Approved	KIAA1679	uc002tva.1	uc002tva.1	Q9C0I4	Q9C0I4	OTTHUMG00000153590	OTTHUMG00000153590	ENST00000409968.1:c.3010A>C	2.37:g.138208465A>C	ENSP00000387145:p.Ser1004Arg		THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R	p.S1004R						BRCA - Breast invasive adenocarcinoma(221;0.19)	15	3188	+						Missense_Mutation	SNP	ENST00000409968.1	37	c.3010A>C		.	.	.	.	.	.	.	.	.	.	A	27.7	4.852763	0.91355	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60171	2.03;0.21;0.21	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87170	0.2220	10	0.30854	T	0.27	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	973	C9JKN6	.	R	1004;1004;973	ENSP00000387145:S1004R;ENSP00000272643:S1004R;ENSP00000413841:S973R	ENSP00000272643:S1004R	S	+	1	0	0	THSD7B	137924935	137924935	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.244000	0.73946	0.533000	0.62120	AGC		0.388	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		8.655812	-1	-1	62	62	XM_046570.9		5	12.721848	12.721848	29	0.147059	0	0	0	1	0	5	29	0.147059
SNRPA1	6627	broad.mit.edu	37	15	101835317	101835317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:101835317delC	ENST00000254193.6	-	1	139	c.67delG	c.(67-69)gagfs	p.E23fs	SNRPA1_ENST00000560856.1_5'UTR|RP11-299G20.2_ENST00000558838.1_RNA	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	23					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTCCAGCTCCCGGTCGCGC	0.711																																						ENST00000254193.6											0			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(67-69)gagfs	small nuclear ribonucleoprotein polypeptide A'						6.0	6.0	6.0					15																	101835317		2073	4098	6171	SO:0001589	frameshift_variant	6627				catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101835317delC	AJ130971	AJ130971	CCDS10391.1	CCDS10391.1	15q26.3	2011-10-11			2011-10-11			ENSG00000131876	ENSG00000131876	ENSG00000131876	ENSG00000131876				11152	11152	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603521	603521						2928112	2928112	Standard	Standard	NM_003090	NM_003090		Approved	Lea1	uc002bww.3	uc002bww.3	P09661	P09661	OTTHUMG00000149871	OTTHUMG00000149871	ENST00000254193.6:c.67delG	15.37:g.101835317delC	ENSP00000254193:p.Glu23fs		SNRPA1_ENST00000560856.1_5'UTR	p.E23fs	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	139	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		23		B2R5I6|Q8TBD2	Frame_Shift_Del	DEL	ENST00000254193.6	37	c.67delG	CCDS10391.1																																																																																									0.711	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	.	.	1	1	6	6	NM_003090		2			4	0.33						2	4	0.33
ANXA13	312	broad.mit.edu	37	8	124707762	124707762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr8:124707762delT	ENST00000419625.1	-	6	523	c.451delA	c.(451-453)atcfs	p.I151fs	ANXA13_ENST00000262219.6_Frame_Shift_Del_p.I192fs	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GACACCAGGATTTTTTTTAGG	0.413																																						ENST00000262219.6											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(574-576)atcfs	annexin A13						150.0	148.0	149.0					8																	124707762		2203	4300	6503	SO:0001589	frameshift_variant	312			cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707762delT	Z11502	Z11502	CCDS34939.1, CCDS47917.1	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			2005-11-09			ENSG00000104537	ENSG00000104537	ENSG00000104537	ENSG00000104537		"""Annexins"""	"""Annexins"""	536	536	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602573	602573		ANX13		ANX13		9503022	9503022	Standard	Standard	NM_004306	NM_004306		Approved		uc003yqt.3	uc003yqt.3	P27216	P27216	OTTHUMG00000164987	OTTHUMG00000164987	ENST00000419625.1:c.451delA	8.37:g.124707762delT	ENSP00000390809:p.Ile151fs		ANXA13_ENST00000419625.1_Frame_Shift_Del_p.I151fs	p.I192fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	641	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		151		Q9BQR5	Frame_Shift_Del	DEL	ENST00000419625.1	37	c.574delA	CCDS47917.1																																																																																									0.413	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	.	.	24	24	155	155	NM_004306		7			582	0.01						7	582	0.01
BAP1	8314	broad.mit.edu	37	3	52436650	52436659	+	Frame_Shift_Del	DEL	ATGAACTCAT	ATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436650_52436659delATGAACTCAT	ENST00000460680.1	-	16	2486_2495	c.2015_2024delATGAGTTCAT	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D672G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAAGGTGCAGATGAACTCATCGTAGTTGTG	0.562			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Missense(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2014-2025)gatgagttcatcfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436650_52436659delATGAACTCAT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.2015_2024delATGAGTTCAT	3.37:g.52436650_52436659delATGAACTCAT	ENSP00000417132:p.Asp672fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	p.DEFI672fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2486_2495	-			672	Interaction with BRCA1.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.2015_2024delATGAGTTCAT	CCDS2853.1																																																																																									0.562	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	5	5	99	99			23			8	0.74						23	8	0.74
CCDC71L	168455	broad.mit.edu	37	7	106301004	106301004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr7:106301004delC	ENST00000523505.1	-	1	438	c.339delG	c.(337-339)gggfs	p.G113fs		NM_175884.4	NP_787080.2	Q8N9Z2	CC71L_HUMAN	coiled-coil domain containing 71-like	113	Pro-rich.									endometrium(1)	1						CTGTAGGGGGCCCCGGGGGGT	0.761																																						ENST00000523505.1											0			endometrium(1)	1						c.(337-339)gggfs	coiled-coil domain containing 71-like						4.0	5.0	5.0					7																	106301004		1735	3902	5637	SO:0001589	frameshift_variant	168455						g.chr7:106301004delC			CCDS55151.1	CCDS55151.1	7q22.3	2011-12-12	2011-12-12	2011-12-12	2011-12-12	2011-12-12	2011-12-12	ENSG00000253276	ENSG00000253276	ENSG00000253276	ENSG00000253276				26685	26685	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 7 open reading frame 74"""	C7orf74	"""chromosome 7 open reading frame 74"""	C7orf74		12477932	12477932	Standard	Standard	NM_175884	NM_175884		Approved	FLJ36031	uc003vdt.3	uc003vdt.3	Q8N9Z2	Q8N9Z2	OTTHUMG00000164150	OTTHUMG00000164150	ENST00000523505.1:c.339delG	7.37:g.106301004delC	ENSP00000430897:p.Gly113fs			p.G113fs	NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN			1	438	-			113	Pro-rich.	Q7Z756	Frame_Shift_Del	DEL	ENST00000523505.1	37	c.339delG	CCDS55151.1																																																																																									0.761	CCDC71L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377493.1	.	.	5	5	5	5	NM_175884		2			4	0.33						2	4	0.33
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2											0			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)aggfs	protein kinase, DNA-activated, catalytic polypeptide						248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591			cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT			CCDS75734.1, CCDS75735.1	CCDS75734.1, CCDS75735.1	8q11	2014-09-17			2014-09-17				ENSG00000253729		ENSG00000253729	2.7.11.1			9413	9413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600899	600899		HYRC, HYRC1		HYRC, HYRC1		7638222	7638222	Standard	Standard	NM_001081640	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	uc003xqi.3	P78527	P78527			ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs		PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704	KIP-binding.	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																										0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		.	.	-12	-12	279	279	NM_001081640		7			1142	0.01						7	1142	0.01
BAP1	8314	broad.mit.edu	37	3	52436649	52436659	+	Frame_Shift_Del	DEL	GATGAACTCAT	GATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436649_52436659delGATGAACTCAT	ENST00000460680.1	-	16	2486_2496	c.2015_2025delATGAGTTCATC	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D672G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TAAAGGTGCAGATGAACTCATCGTAGTTGTG	0.564			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Missense(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2014-2025)gatgagttcatcfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52436649_52436659delGATGAACTCAT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.2015_2025delATGAGTTCATC	3:g.52436649_52436659delGATGAACTCAT	ENSP00000417132:p.Asp672fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	p.DEFI672fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2486_2496	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1		c.2015_2025delATGAGTTCATC	CCDS2853.1																																																																																									0.564	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	2.697000e+01	9.029000e+01	8	8	100	100			22			7	7.860000e-01						22	7	0.786
