#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	141	0	0	0	1	0	4	141				
KRTAP5-4	387267	broad.mit.edu	37	11	1643302	1643302	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:1643302C>T	ENST00000399682.1	-	1	66	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccacagcctcCAGAGCAGCCA	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(22-24)Gga>Aga		keratin associated protein 5-4							11.0	12.0	11.0					11																	1643302		689	1590	2279	SO:0001583	missense	387267					keratin filament		g.chr11:1643302C>T	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.22G>A	11.37:g.1643302C>T	ENSP00000382590:p.Gly8Arg						p.G8R	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	66	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	8						Missense_Mutation	SNP	ENST00000399682.1	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	C	11.13	1.547487	0.27652	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00958	5.5	3.47	2.55	0.30701	.	.	.	.	.	T	0.03608	0.0103	M	0.87900	2.915	0.25813	N	0.984373	.	.	.	.	.	.	T	0.10382	-1.0632	7	0.48119	T	0.1	.	8.7417	0.34560	0.0:0.8796:0.0:0.1204	.	.	.	.	R	8	ENSP00000382590:G8R	ENSP00000331603:G8R	G	-	1	0	KRTAP5-4	1599878	0.956000	0.32656	0.860000	0.33809	0.617000	0.37484	2.343000	0.44001	0.557000	0.29117	0.591000	0.81541	GGA		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		6	455	0	0	0	1	0	6	455				
TTN	7273	broad.mit.edu	37	2	179484433	179484433	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:179484433C>A	ENST00000591111.1	-	200	41912	c.41688G>T	c.(41686-41688)caG>caT	p.Q13896H	TTN_ENST00000460472.2_Missense_Mutation_p.Q6472H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q15537H|TTN_ENST00000359218.5_Missense_Mutation_p.Q6597H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q12969H|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q6664H|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13896					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)			TATCACAAATCTGTAGTCGAT	0.413																																						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.(46609-46611)caG>caT		titin							214.0	211.0	212.0					2																	179484433		1896	4109	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484433C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41688G>T	2.37:g.179484433C>A	ENSP00000465570:p.Gln13896His					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q6472H|TTN_ENST00000342992.6_Missense_Mutation_p.Q12969H|TTN_ENST00000359218.5_Missense_Mutation_p.Q6597H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q13896H|TTN_ENST00000342175.6_Missense_Mutation_p.Q6664H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.Q15537H	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)		250	46835	-			13896			Fibronectin type-III 13.		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.46611G>T		.	.	.	.	.	.	.	.	.	.	C	8.814	0.936034	0.18206	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.79	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76535	0.4001	L	0.57536	1.79	0.45118	D	0.998134	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.78011	-0.2371	9	0.87932	D	0	.	9.1859	0.37170	0.0:0.7846:0.0:0.2154	.	6472;6597;6664;13896	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	12969;6472;6664;6597;6472	ENSP00000343764:Q12969H;ENSP00000434586:Q6472H;ENSP00000340554:Q6664H;ENSP00000352154:Q6597H	ENSP00000340554:Q6664H	Q	-	3	2	TTN	179192678	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	1.663000	0.37429	1.458000	0.47871	-0.136000	0.14681	CAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		84	140	1	0	5.01443e-46	1	5.64916e-46	84	140				
SLC12A4	6560	broad.mit.edu	37	16	67983743	67983743	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr16:67983743G>A	ENST00000316341.3	-	13	1848	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F	SLC12A4_ENST00000422611.2_Missense_Mutation_p.L572F|SLC12A4_ENST00000537830.2_Missense_Mutation_p.L564F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.L570F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.L522F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.L539F|SLC12A4_ENST00000338335.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000572010.1_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	570					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGGCGATGAGGATGCCCAGC	0.632																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(1714-1716)Ctc>Ttc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						140.0	111.0	121.0					16																	67983743		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67983743G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1708C>T	16.37:g.67983743G>A	ENSP00000318557:p.Leu570Phe					SLC12A4_ENST00000541864.2_Missense_Mutation_p.L539F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.L570F|SLC12A4_ENST00000338335.3_Missense_Mutation_p.L570F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.L522F|SLC12A4_ENST00000537830.2_Missense_Mutation_p.L564F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.L570F	p.L572F	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	12	1753	-		Ovarian(137;0.192)	570					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1714C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498034	0.96355	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93	5.58	5.58	0.84498	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99483	0.9816	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D	0.89917	0.987;0.996;1.0;0.964;0.987;0.971	D;D;D;P;P;P	0.78314	0.928;0.988;0.991;0.839;0.901;0.868	D	0.99010	1.0814	10	0.87932	D	0	.	19.5746	0.95436	0.0:0.0:1.0:0.0	.	572;570;539;564;570;570	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	F	572;539;564;570;570	ENSP00000395983:L572F;ENSP00000438334:L539F;ENSP00000445962:L564F;ENSP00000343374:L570F;ENSP00000318557:L570F	ENSP00000318557:L570F	L	-	1	0	SLC12A4	66541244	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.712000	0.74681	2.638000	0.89438	0.655000	0.94253	CTC		0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		8	24	0	0	0	1	0	8	24				
ZNF160	90338	broad.mit.edu	37	19	53571424	53571424	+	Missense_Mutation	SNP	C	C	T	rs187006418	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53571424C>T	ENST00000429604.1	-	7	2778	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H	ZNF160_ENST00000599056.1_Missense_Mutation_p.R788H|ZNF160_ENST00000601421.1_Missense_Mutation_p.R752H|ZNF160_ENST00000418871.1_Missense_Mutation_p.R788H	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	788					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTTGTAACGCTTTTCTCC	0.443													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22432	0.0		0.001	False		,,,				2504	0.0					ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2254-2256)cGt>cAt		zinc finger protein 160							148.0	135.0	140.0					19																	53571424		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53571424C>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.2363G>A	19.37:g.53571424C>T	ENSP00000406201:p.Arg788His					ZNF160_ENST00000599056.1_Missense_Mutation_p.R788H|ZNF160_ENST00000429604.1_Missense_Mutation_p.R788H|ZNF160_ENST00000418871.1_Missense_Mutation_p.R788H	p.R752H			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	3131	-			788					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.2255G>A	CCDS12859.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	14.70	2.612420	0.46631	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.18810	2.19;2.19	2.35	-2.01	0.07410	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09512	0.0234	L	0.33137	0.985	0.80722	D	1	P	0.36222	0.544	B	0.15052	0.012	T	0.18493	-1.0335	9	0.87932	D	0	.	2.848	0.05549	0.1167:0.1848:0.527:0.1715	.	788	Q9HCG1	ZN160_HUMAN	H	788	ENSP00000406201:R788H;ENSP00000409597:R788H	ENSP00000409597:R788H	R	-	2	0	ZNF160	58263236	0.976000	0.34144	0.000000	0.03702	0.001000	0.01503	3.064000	0.49986	-0.491000	0.06697	-1.058000	0.02302	CGT		0.443	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		4	172	0	0	0	1	0	4	172				
TRRAP	8295	broad.mit.edu	37	7	98495430	98495430	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:98495430A>G	ENST00000359863.4	+	8	783	c.574A>G	c.(574-576)Atg>Gtg	p.M192V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M192V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M192V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	192					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATGGTTGGTATGATAACAAC	0.443																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(574-576)Atg>Gtg		transformation/transcription domain-associated protein							138.0	124.0	129.0					7																	98495430		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98495430A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.574A>G	7.37:g.98495430A>G	ENSP00000352925:p.Met192Val					TRRAP_ENST00000446306.3_Missense_Mutation_p.M192V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M192V	p.M192V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	783	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		192					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.574A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966198	0.53507	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02737	4.18;4.18	5.58	5.58	0.84498	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.03136	0.0092	N	0.08118	0	0.80722	D	1	B;B	0.34399	0.452;0.323	P;B	0.44623	0.455;0.267	T	0.64931	-0.6291	10	0.12103	T	0.63	.	15.7444	0.77926	1.0:0.0:0.0:0.0	.	192;192	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	V	192	ENSP00000352925:M192V;ENSP00000347733:M192V	ENSP00000347733:M192V	M	+	1	0	TRRAP	98333366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.242000	0.95408	2.141000	0.66446	0.482000	0.46254	ATG		0.443	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		98	114	0	0	0	1	0	98	114				
OSBP	5007	broad.mit.edu	37	11	59361581	59361581	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:59361581T>C	ENST00000263847.1	-	8	1938	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	487					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGGAAGACAGTAGTGGAGTAG	0.498																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1459-1461)Act>Gct		oxysterol binding protein							99.0	93.0	95.0					11																	59361581		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59361581T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1459A>G	11.37:g.59361581T>C	ENSP00000263847:p.Thr487Ala						p.T487A	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	1938	-		all_epithelial(135;0.000236)	487					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1459A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	33	5.229993	0.95173	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.30981	1.51	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56335	-0.7996	10	0.62326	D	0.03	-18.6667	15.3262	0.74164	0.0:0.0:0.0:1.0	.	487	P22059	OSBP1_HUMAN	A	487;87	ENSP00000263847:T487A	ENSP00000263847:T487A	T	-	1	0	OSBP	59118157	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.947000	0.87758	2.269000	0.75478	0.533000	0.62120	ACT		0.498	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			28	49	0	0	0	1	0	28	49				
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A	rs369770584		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6490-6492)acC>acT		mucin 4, cell surface associated							15.0	15.0	15.0					3																	195511959		676	1556	2232	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511959G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6492C>T	3.37:g.195511959G>A						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron	p.T2164T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6951	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	943					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6492C>T	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		6	6	0	0	0	1	0	6	6				
ABL2	27	broad.mit.edu	37	1	179077240	179077240	+	Silent	SNP	C	C	T	rs148651616	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:179077240C>T	ENST00000502732.1	-	12	3365	c.3162G>A	c.(3160-3162)tcG>tcA	p.S1054S	ABL2_ENST00000511413.1_Silent_p.S951S|ABL2_ENST00000408940.3_Silent_p.S1018S|ABL2_ENST00000507173.1_Silent_p.S930S|ABL2_ENST00000344730.3_Silent_p.S936S|ABL2_ENST00000512653.1_Silent_p.S1039S|ABL2_ENST00000367623.4_Silent_p.S1033S|ABL2_ENST00000504405.1_Silent_p.S915S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1054	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.S1018S(1)|p.S1054S(1)|p.S1039S(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTTGGCTGGCGAGATGGAAG	0.542			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - coding silent(3)	p.S1018S(1)|p.S1054S(1)|p.S1039S(1)	endometrium(3)	breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3160-3162)tcG>tcA		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	C	,,,,,,	0,4406		0,0,2203	76.0	72.0	73.0		2808,3099,2853,2790,2745,3117,3162	-1.5	1.0	1	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABL2	NM_001136000.2,NM_001168236.1,NM_001168237.1,NM_001168238.1,NM_001168239.1,NM_005158.4,NM_007314.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	936/1065,1033/1162,951/1080,930/1059,915/1044,1039/1168,1054/1183	179077240	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077240C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3162G>A	1.37:g.179077240C>T						ABL2_ENST00000507173.1_Silent_p.S930S|ABL2_ENST00000408940.3_Silent_p.S1018S|ABL2_ENST00000344730.3_Silent_p.S936S|ABL2_ENST00000367623.4_Silent_p.S1033S|ABL2_ENST00000511413.1_Silent_p.S951S|ABL2_ENST00000504405.1_Silent_p.S915S|ABL2_ENST00000512653.1_Silent_p.S1039S	p.S1054S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	3365	-			1054			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.3162G>A	CCDS30947.1																																																																																				0.542	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		34	92	0	0	0	1	0	34	92				
NXPE4	54827	broad.mit.edu	37	11	114441792	114441792	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:114441792G>T	ENST00000375478.3	-	6	1683	c.1503C>A	c.(1501-1503)gaC>gaA	p.D501E	NXPE4_ENST00000424261.2_Missense_Mutation_p.D217E	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	501						extracellular vesicular exosome (GO:0070062)											CCTGGAAAATGTCCTTTATGA	0.368																																						ENST00000375478.3																			0											c.(1501-1503)gaC>gaA		neurexophilin and PC-esterase domain family, member 4							164.0	149.0	154.0					11																	114441792		1898	4119	6017	SO:0001583	missense	54827							g.chr11:114441792G>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1503C>A	11.37:g.114441792G>T	ENSP00000364627:p.Asp501Glu					NXPE4_ENST00000424261.2_Missense_Mutation_p.D217E	p.D501E	NM_001077639.1	NP_001071107.1					6	1683	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1503C>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348348	0.24426	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.13420	2.59;2.59	5.61	0.364	0.16124	.	0.082857	0.48286	N	0.000181	T	0.05777	0.0151	N	0.16478	0.41	0.22521	N	0.999025	B	0.22541	0.071	B	0.26969	0.075	T	0.43065	-0.9414	10	0.02654	T	1	.	6.2312	0.20736	0.2701:0.0:0.6108:0.1192	.	501	Q6UWF7	FA55D_HUMAN	E	217;501	ENSP00000401503:D217E;ENSP00000364627:D501E	ENSP00000364627:D501E	D	-	3	2	FAM55D	113947002	0.017000	0.18338	0.199000	0.23439	0.915000	0.54546	-0.553000	0.06012	-0.102000	0.12197	0.655000	0.94253	GAC		0.368	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		74	27	1	0	5.91718e-24	1	6.42231e-24	74	27				
COL27A1	85301	broad.mit.edu	37	9	117062952	117062952	+	Silent	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:117062952G>T	ENST00000356083.3	+	51	5077	c.4686G>T	c.(4684-4686)ggG>ggT	p.G1562G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1562	Collagen-like 16.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCCTCGGGGGCCACCTGGCT	0.612																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4684-4686)ggG>ggT		collagen, type XXVII, alpha 1							40.0	39.0	39.0					9																	117062952		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117062952G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4686G>T	9.37:g.117062952G>T							p.G1562G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			51	5077	+			1562			Collagen-like 16.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.4686G>T	CCDS6802.1																																																																																				0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		16	30	1	0	1.02788e-11	1	1.03956e-11	16	30				
SLCO1B7	338821	broad.mit.edu	37	12	21201743	21201743	+	Silent	SNP	A	A	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:21201743A>T	ENST00000421593.2	+	8	1092	c.1092A>T	c.(1090-1092)gcA>gcT	p.A364A	SLCO1B7_ENST00000554957.1_Silent_p.A411A|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Silent_p.A411A	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	364						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCAAATTGGCATTTTGTTCTG	0.388																																						ENST00000381541.3																			0											c.(1231-1233)gcA>gcT									70.0	73.0	72.0					12																	21201743		2095	4242	6337	SO:0001819	synonymous_variant	0							g.chr12:21201743A>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1092A>T	12.37:g.21201743A>T						SLCO1B7_ENST00000421593.2_Silent_p.A364A|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A411A|SLCO1B3_ENST00000553473.1_Intron	p.A411A							9	1298	+								Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1233A>T	CCDS44843.1																																																																																				0.388	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		23	37	0	0	0	1	0	23	37				
MYH8	4626	broad.mit.edu	37	17	10317327	10317327	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:10317327C>T	ENST00000403437.2	-	12	1133	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	347	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTTTCTCTTCAGGAGTGAAG	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1039-1041)Gaa>Aaa		myosin, heavy chain 8, skeletal muscle, perinatal							109.0	105.0	106.0					17																	10317327		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10317327C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1039G>A	17.37:g.10317327C>T	ENSP00000384330:p.Glu347Lys					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E347K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			12	1133	-			347			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1039G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019151	0.93462	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.72835	-0.69	4.86	4.86	0.63082	Myosin head, motor domain (2);	0.168842	0.27415	U	0.019473	T	0.80454	0.4626	M	0.81614	2.55	0.52501	D	0.999957	P	0.40970	0.734	P	0.48571	0.582	D	0.83762	0.0215	10	0.87932	D	0	.	18.1836	0.89786	0.0:1.0:0.0:0.0	.	347	P13535	MYH8_HUMAN	K	347	ENSP00000384330:E347K	ENSP00000252173:E347K	E	-	1	0	MYH8	10258052	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.609000	0.82925	2.538000	0.85594	0.655000	0.94253	GAA		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		61	112	0	0	0	1	0	61	112				
DLGAP5	9787	broad.mit.edu	37	14	55647979	55647979	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:55647979C>A	ENST00000247191.2	-	5	748	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	DLGAP5_ENST00000395425.2_Missense_Mutation_p.G178C	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	178					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTCTTGGACCAGGTCGGATT	0.348																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(532-534)Ggt>Tgt		discs, large (Drosophila) homolog-associated protein 5							150.0	142.0	145.0					14																	55647979		2202	4300	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55647979C>A	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.532G>T	14.37:g.55647979C>A	ENSP00000247191:p.Gly178Cys					DLGAP5_ENST00000395425.2_Missense_Mutation_p.G178C	p.G178C	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			5	748	-			178					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.532G>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060880	0.36373	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.17691	2.26;2.26;2.26	4.93	3.1	0.35709	.	4.799390	0.00166	N	0.000002	T	0.37945	0.1022	L	0.60455	1.87	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.62813	0.885;0.907	T	0.03587	-1.1022	10	0.72032	D	0.01	.	7.5839	0.27980	0.0:0.8069:0.0:0.1931	.	178;178	A8MTM6;Q15398	.;DLGP5_HUMAN	C	178	ENSP00000378815:G178C;ENSP00000247191:G178C;ENSP00000451747:G178C	ENSP00000247191:G178C	G	-	1	0	DLGAP5	54717732	0.002000	0.14202	0.094000	0.20943	0.509000	0.34042	0.449000	0.21744	0.792000	0.33850	0.655000	0.94253	GGT		0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		49	69	1	0	9.86064e-34	1	1.097e-33	49	69				
CDH9	1007	broad.mit.edu	37	5	26906904	26906904	+	Silent	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:26906904G>T	ENST00000231021.4	-	4	739	c.567C>A	c.(565-567)gcC>gcA	p.A189A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	189	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCATAGTTGGCGTCATCTG	0.408																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(565-567)gcC>gcA		cadherin 9, type 2 (T1-cadherin)							136.0	121.0	126.0					5																	26906904		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906904G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.567C>A	5.37:g.26906904G>T							p.A189A	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			4	739	-			189			Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.567C>A	CCDS3893.1																																																																																				0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		49	72	1	0	3.39706e-21	1	3.55692e-21	49	72				
OR10G3	26533	broad.mit.edu	37	14	22038026	22038026	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:22038026G>T	ENST00000303532.1	-	1	849	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	284						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(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGGGGGTTGAGGAAAGGAGTG	0.552																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(850-852)Ctc>Atc		olfactory receptor, family 10, subfamily G, member 3							69.0	72.0	71.0					14																	22038026		2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038026G>T		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.850C>A	14.37:g.22038026G>T	ENSP00000302437:p.Leu284Ile						p.L284I	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	849	-	all_cancers(95;0.000987)		284					Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.850C>A	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491692	0.26774	.	.	ENSG00000169208	ENST00000303532	T	0.44083	0.93	4.81	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.201793	0.24547	N	0.037584	T	0.37210	0.0995	L	0.45422	1.42	0.30801	N	0.739811	P	0.47106	0.89	P	0.48166	0.569	T	0.44065	-0.9352	10	0.87932	D	0	-19.4083	3.6883	0.08336	0.0919:0.1684:0.5655:0.1742	.	284	Q8NGC4	O10G3_HUMAN	I	284	ENSP00000302437:L284I	ENSP00000302437:L284I	L	-	1	0	OR10G3	21107866	0.040000	0.19996	0.998000	0.56505	0.074000	0.17049	0.162000	0.16501	0.491000	0.27793	0.305000	0.20034	CTC		0.552	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			55	86	1	0	6.60958e-23	1	7.00301e-23	55	86				
DACH1	1602	broad.mit.edu	37	13	72049862	72049862	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr13:72049862T>C	ENST00000359684.2	-	10	2151	c.2152A>G	c.(2152-2154)Aca>Gca	p.T718A	DACH1_ENST00000354591.4_Missense_Mutation_p.T464A|DACH1_ENST00000313174.7_Missense_Mutation_p.T518A|DACH1_ENST00000305425.4_Missense_Mutation_p.T666A			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	718					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGACTATCTGTTGAAGCTGCC	0.398																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1996-1998)Aca>Gca		dachshund homolog 1 (Drosophila)							324.0	306.0	312.0					13																	72049862		1911	4135	6046	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049862T>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.2152A>G	13.37:g.72049862T>C	ENSP00000352712:p.Thr718Ala					DACH1_ENST00000313174.7_Missense_Mutation_p.T518A|DACH1_ENST00000354591.4_Missense_Mutation_p.T464A|DACH1_ENST00000359684.2_Missense_Mutation_p.T718A	p.T666A	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2418	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	716			DACHbox-C.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1996A>G		.	.	.	.	.	.	.	.	.	.	T	11.31	1.601839	0.28534	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.30448	1.56;1.58;1.58;1.53	5.1	3.92	0.45320	.	0.109018	0.64402	N	0.000008	T	0.17831	0.0428	L	0.33485	1.01	0.21473	N	0.999671	B;B;B	0.22211	0.002;0.066;0.008	B;B;B	0.22386	0.003;0.039;0.006	T	0.28490	-1.0042	10	0.08381	T	0.77	-5.9456	5.6921	0.17835	0.1494:0.0812:0.0:0.7694	.	462;516;664	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	A	666;518;464;718;718	ENSP00000304994:T666A;ENSP00000318506:T518A;ENSP00000346604:T464A;ENSP00000352712:T718A	ENSP00000304994:T666A	T	-	1	0	DACH1	70947863	1.000000	0.71417	0.745000	0.31077	0.990000	0.78478	2.227000	0.42972	0.892000	0.36259	0.533000	0.62120	ACA		0.398	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		179	399	0	0	0	1	0	179	399				
SEC16A	9919	broad.mit.edu	37	9	139350103	139350103	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:139350103G>T	ENST00000371706.3	-	18	5306	c.5273C>A	c.(5272-5274)cCt>cAt	p.P1758H	SEC16A_ENST00000431893.2_Missense_Mutation_p.P1758H|SEC16A_ENST00000313050.7_Missense_Mutation_p.P1936H|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1758H			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1758	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTCGGTGCAGGCACCGCCAG	0.677																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5806-5808)cCt>cAt		SEC16 homolog A (S. cerevisiae)							16.0	23.0	20.0					9																	139350103		2117	4211	6328	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139350103G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5273C>A	9.37:g.139350103G>T	ENSP00000360771:p.Pro1758His					SEC16A_ENST00000371706.3_Missense_Mutation_p.P1758H|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1758H|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1758H	p.P1936H	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	18	5880	-		Myeloproliferative disorder(178;0.0511)	1758			Pro-rich.|Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.5807C>A		.	.	.	.	.	.	.	.	.	.	G	13.71	2.317843	0.40996	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.43688	1.93;0.94;1.52;1.94;1.93;1.94	3.67	2.42	0.29668	.	0.198674	0.31323	N	0.007858	T	0.50309	0.1608	L	0.57536	1.79	0.20403	N	0.999903	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;D;D;D	0.74348	0.778;0.983;0.977;0.949	T	0.28618	-1.0038	10	0.41790	T	0.15	.	3.3868	0.07274	0.3381:0.0:0.6619:0.0	.	1936;1758;1758;1326	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	H	1936;330;658;1758;1758;1758;1326	ENSP00000325827:P1936H;ENSP00000277537:P330H;ENSP00000403525:P658H;ENSP00000360771:P1758H;ENSP00000290037:P1758H;ENSP00000387583:P1758H	ENSP00000277537:P330H	P	-	2	0	SEC16A	138469924	0.136000	0.22515	0.005000	0.12908	0.008000	0.06430	3.533000	0.53561	1.741000	0.51731	0.655000	0.94253	CCT		0.677	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		3	12	1	0	0.115264	1	0.115264	3	12				
PGM2L1	283209	broad.mit.edu	37	11	74053584	74053584	+	Silent	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:74053584T>C	ENST00000298198.4	-	12	1865	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	518					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCCACAAAATTTTGGATATT	0.328																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1552-1554)aaA>aaG		phosphoglucomutase 2-like 1							77.0	85.0	82.0					11																	74053584		2200	4293	6493	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053584T>C	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1554A>G	11.37:g.74053584T>C							p.K518K	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			12	1865	-	Breast(11;3.32e-06)		518					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1554A>G	CCDS8231.1																																																																																				0.328	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		211	124	0	0	0	1	0	211	124				
SMAD4	4089	broad.mit.edu	37	18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	118	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCAGTATGCGTTTGACTTA	0.398																																						ENST00000342988.3																			43	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(3)	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)	pancreas(28)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(352-354)gCg>gTg		SMAD family member 4							171.0	153.0	159.0					18																	48575159		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575159C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.353C>T	18.37:g.48575159C>T	ENSP00000341551:p.Ala118Val					SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V	p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	891	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	118			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.353C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260508	0.95368	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78364	-1.17;-1.17;-1.17	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91673	0.5352	10	0.72032	D	0.01	.	18.1041	0.89515	0.0:1.0:0.0:0.0	.	118	Q13485	SMAD4_HUMAN	V	118	ENSP00000409551:A118V;ENSP00000341551:A118V;ENSP00000381452:A118V	ENSP00000341551:A118V	A	+	2	0	SMAD4	46829157	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.793000	0.85851	2.540000	0.85666	0.585000	0.79938	GCG		0.398	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		34	16	0	0	0	1	0	34	16				
MYEOV2	150678	broad.mit.edu	37	2	241075705	241075705	+	5'UTR	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:241075705G>A	ENST00000607357.1	-	0	15				MYEOV2_ENST00000489698.1_5'Flank|MYEOV2_ENST00000307266.3_Silent_p.P20P	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2											breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTTCATCTCGGGGCCGCGGC	0.731																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(58-60)ccC>ccT		myeloma overexpressed 2							6.0	7.0	7.0					2																	241075705		2063	4117	6180	SO:0001623	5_prime_UTR_variant	150678							g.chr2:241075705G>A	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.-4C>T	2.37:g.241075705G>A						MYEOV2_ENST00000607357.1_5'UTR	p.P20P	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	1	59	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	0					Q8N110	Silent	SNP	ENST00000607357.1	37	c.60C>T																																																																																					0.731	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		4	10	0	0	0	1	0	4	10				
NOC2L	26155	broad.mit.edu	37	1	889227	889227	+	Missense_Mutation	SNP	G	G	A	rs370030288		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGATGTGCCGCAGCACGGCC	0.617																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(823-825)Cgg>Tgg		nucleolar complex associated 2 homolog (S. cerevisiae)		G	TRP/ARG	1,4405		0,1,2202	35.0	38.0	37.0		823	4.3	0.2	1		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOC2L	NM_015658.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	275/750	889227	2,13004	2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:889227G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.823C>T	1.37:g.889227G>A	ENSP00000317992:p.Arg275Trp						p.R275W	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	872	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	275					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.823C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460554	0.43736	2.27E-4	1.16E-4	ENSG00000188976	ENST00000327044	T	0.24723	1.84	4.28	4.28	0.50868	Armadillo-type fold (1);	0.410909	0.25238	N	0.032113	T	0.22589	0.0545	L	0.33485	1.01	0.25940	N	0.982882	B;B;B	0.18863	0.031;0.014;0.031	B;B;B	0.16722	0.016;0.006;0.016	T	0.19910	-1.0291	10	0.59425	D	0.04	-17.7383	15.865	0.79057	0.0:0.0:1.0:0.0	.	275;275;42	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	W	275	ENSP00000317992:R275W	ENSP00000317992:R275W	R	-	1	2	NOC2L	879090	0.995000	0.38212	0.201000	0.23476	0.059000	0.15707	3.798000	0.55522	2.217000	0.71921	0.305000	0.20034	CGG		0.617	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		4	68	0	0	0	1	0	4	68				
HMCES	56941	broad.mit.edu	37	3	129023602	129023602	+	Silent	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129023602C>G	ENST00000383463.4	+	7	1088	c.999C>G	c.(997-999)ctC>ctG	p.L333L	HMCES_ENST00000389735.3_Silent_p.L333L|HMCES_ENST00000502878.2_Silent_p.L333L|HMCES_ENST00000417226.2_Silent_p.L291L	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	333							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										CTGCAGGACTCCTAGAGCAAT	0.552																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(997-999)ctC>ctG									68.0	61.0	64.0					3																	129023602		2203	4300	6503	SO:0001819	synonymous_variant	56941							g.chr3:129023602C>G	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.999C>G	3.37:g.129023602C>G						C3orf37_ENST00000502878.2_Silent_p.L333L|C3orf37_ENST00000417226.2_Silent_p.L291L|C3orf37_ENST00000389735.3_Silent_p.L333L	p.L333L	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			7	1088	+			333					A6NJR9|Q96G34|Q9NRP3	Silent	SNP	ENST00000383463.4	37	c.999C>G	CCDS33852.1																																																																																				0.552	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		13	62	0	0	0	1	0	13	62				
GPR98	84059	broad.mit.edu	37	5	89953721	89953721	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:89953721G>T	ENST00000405460.2	+	21	4474		c.e21-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTAATTTCAGGTCCTGGGAT	0.393																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.e21-1		G protein-coupled receptor 98							96.0	94.0	94.0					5																	89953721		1876	4106	5982	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953721G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4379-1G>T	5.37:g.89953721G>T								NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4474	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)						O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37		CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814751	0.90790	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9507	0.97198	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	89989477	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.324000	0.96373	2.705000	0.92388	0.655000	0.94253	.		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron	31	15	1	0	1.99505e-19	1	2.06465e-19	31	15				
EPPK1	83481	broad.mit.edu	37	8	144940411	144940411	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr8:144940411G>A	ENST00000525985.1	-	2	7082	c.7011C>T	c.(7009-7011)cgC>cgT	p.R2337R				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCAGCAGGCGGATGCCGT	0.701																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7009-7011)cgC>cgT		epiplakin 1							166.0	166.0	166.0					8																	144940411		2156	4229	6385	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940411G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7011C>T	8.37:g.144940411G>A							p.R2337R			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7082	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2337					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7011C>T																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		52	1226	0	0	0	1	0	52	1226				
ALS2	57679	broad.mit.edu	37	2	202631979	202631979	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:202631979C>T	ENST00000264276.6	-	3	520	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	ALS2_ENST00000467448.1_Missense_Mutation_p.V50M|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	50					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCATGTTTCACTCCGAGGGCT	0.488																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(148-150)Gtg>Atg		amyotrophic lateral sclerosis 2 (juvenile)							121.0	117.0	118.0					2																	202631979		1924	4138	6062	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202631979C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.148G>A	2.37:g.202631979C>T	ENSP00000264276:p.Val50Met					ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.V50M	p.V50M	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			3	520	-			50					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.148G>A	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	7.429	0.638291	0.14386	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	6.07	2.99	0.34606	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.542312	0.20700	N	0.087287	T	0.69628	0.3132	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.28933	0.228;0.029;0.008;0.001	B;B;B;B	0.21546	0.035;0.02;0.005;0.001	T	0.58730	-0.7585	10	0.46703	T	0.11	.	9.0127	0.36150	0.0:0.561:0.0:0.439	.	50;50;50;50	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	M	50	ENSP00000264276:V50M;ENSP00000429223:V50M;ENSP00000386384:V50M;ENSP00000386948:V50M	ENSP00000264276:V50M	V	-	1	0	ALS2	202340224	0.000000	0.05858	0.830000	0.32933	0.256000	0.26092	-0.109000	0.10840	0.400000	0.25396	-0.137000	0.14449	GTG		0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		49	44	0	0	0	1	0	49	44				
TRAJ10	28745	broad.mit.edu	37	14	23002505	23002505	+	RNA	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:23002505C>A	ENST00000390527.1	+	0	61				TRAJ11_ENST00000390526.1_RNA|TRAJ13_ENST00000390524.1_RNA|TRAJ9_ENST00000390528.1_RNA|TRAJ12_ENST00000390525.1_RNA|TRAJ8_ENST00000390529.1_RNA					T cell receptor alpha joining 10																		AAAAGTGGAACTCAGTAAGTA	0.368																																						ENST00000390527.1																			0																				154.0	149.0	151.0					14																	23002505		1890	4109	5999			28745							g.chr14:23002505C>A	M94081		14q11.2	2012-02-07			ENSG00000211879	ENSG00000211879		"""T cell receptors / TRA locus"""	12038	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170957		14.37:g.23002505C>A														0	61	+									RNA	SNP	ENST00000390527.1	37																																																																																						0.368	TRAJ10-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410988.1	NG_001332		49	129	1	0	6.31075e-24	1	6.76695e-24	49	129				
HMCES	56941	broad.mit.edu	37	3	129023505	129023505	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129023505C>G	ENST00000383463.4	+	7	991	c.902C>G	c.(901-903)tCa>tGa	p.S301*	HMCES_ENST00000389735.3_Nonsense_Mutation_p.S301*|HMCES_ENST00000502878.2_Nonsense_Mutation_p.S301*|HMCES_ENST00000417226.2_Nonsense_Mutation_p.S259*	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	301							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										AAGGAAGACTCAAAAACACCT	0.507																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(901-903)tCa>tGa									121.0	115.0	117.0					3																	129023505		2203	4300	6503	SO:0001587	stop_gained	56941							g.chr3:129023505C>G	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.902C>G	3.37:g.129023505C>G	ENSP00000372955:p.Ser301*					C3orf37_ENST00000502878.2_Nonsense_Mutation_p.S301*|C3orf37_ENST00000417226.2_Nonsense_Mutation_p.S259*|C3orf37_ENST00000389735.3_Nonsense_Mutation_p.S301*	p.S301*	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			7	991	+			301					A6NJR9|Q96G34|Q9NRP3	Nonsense_Mutation	SNP	ENST00000383463.4	37	c.902C>G	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553704	0.45487	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	3.92	2.11	0.27256	.	1.675240	0.02925	N	0.138497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.1577	6.3247	0.21237	0.0:0.7692:0.0:0.2308	.	.	.	.	X	253;301;259;301;301	.	ENSP00000372955:S301X	S	+	2	0	C3orf37	130506195	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	0.541000	0.23207	0.438000	0.26450	-0.229000	0.12294	TCA		0.507	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		29	143	0	0	0	1	0	29	143				
PDE4C	5143	broad.mit.edu	37	19	18333077	18333077	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:18333077C>T	ENST00000355502.3	-	6	1170	c.299G>A	c.(298-300)aGc>aAc	p.S100N	PDE4C_ENST00000594617.3_Missense_Mutation_p.S100N|PDE4C_ENST00000447275.3_5'UTR|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000262805.12_Missense_Mutation_p.S68N|PDE4C_ENST00000594465.3_Missense_Mutation_p.S100N|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	100					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CAGGCCAGGGCTGGACTGAGG	0.612																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(298-300)aGc>aAc		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						48.0	49.0	49.0					19																	18333077		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18333077C>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.299G>A	19.37:g.18333077C>T	ENSP00000347689:p.Ser100Asn					PDE4C_ENST00000262805.11_Missense_Mutation_p.S68N|PDE4C_ENST00000594465.2_Missense_Mutation_p.S100N|PDE4C_ENST00000447275.2_5'UTR|PDE4C_ENST00000594617.2_Missense_Mutation_p.S100N	p.S100N			Q08493	PDE4C_HUMAN			6	1170	-			100					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.299G>A	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431627	0.62844	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000543547	T;T	0.79247	0.94;-1.25	3.98	2.94	0.34122	.	.	.	.	.	T	0.78266	0.4256	L	0.55481	1.735	0.80722	D	1	P;B;B	0.41313	0.745;0.148;0.184	B;B;P	0.48677	0.356;0.11;0.586	T	0.77778	-0.2460	9	0.87932	D	0	.	10.0579	0.42257	0.0:0.8975:0.0:0.1025	.	209;100;68	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	N	179;100;88;68;209	ENSP00000347689:S100N;ENSP00000262805:S68N	ENSP00000262805:S68N	S	-	2	0	PDE4C	18194077	1.000000	0.71417	0.006000	0.13384	0.427000	0.31564	7.132000	0.77251	0.678000	0.31325	0.306000	0.20318	AGC		0.612	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			7	78	0	0	0	1	0	7	78				
ZRSR2	8233	broad.mit.edu	37	X	15841049	15841049	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:15841049G>A	ENST00000307771.7	+	11	1157	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	378					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|pre-mRNA 3'-splice site binding (GO:0030628)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGCAGGCTGCGGGGAAGGAGA	0.532			"""F, S, Mis"""		"""MDS, CLL"""																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"""F, S, Mis"""	"""zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"""			L			"""MDS, CLL"""		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(1132-1134)cGg>cAg		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							65.0	63.0	63.0					X																	15841049		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15841049G>A	BC050451	CCDS14172.1	Xp22.1	2014-09-17	2006-09-26	2006-09-26	ENSG00000169249	ENSG00000169249		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	23019	protein-coding gene	gene with protein product		300028	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 2"", ""U2 small nuclear RNA auxiliary factor 1-like 2"""	U2AF1L2		8586425, 9237760, 15146077	Standard	NM_005089		Approved	U2AF1-RS2, URP	uc004cxg.4	Q15696	OTTHUMG00000021184	ENST00000307771.7:c.1133G>A	X.37:g.15841049G>A	ENSP00000303015:p.Arg378Gln						p.R378Q	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			11	1157	+	Hepatocellular(33;0.183)		378					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.1133G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155480	0.57259	.	.	ENSG00000169249	ENST00000307771	.	.	.	5.48	5.48	0.80851	.	0.168635	0.64402	D	0.000019	T	0.75117	0.3806	M	0.81802	2.56	0.80722	D	1	D	0.69078	0.997	P	0.54060	0.741	T	0.78355	-0.2236	9	0.52906	T	0.07	.	16.8451	0.85978	0.0:0.0:1.0:0.0	.	378	Q15696	U2AFM_HUMAN	Q	378	.	ENSP00000303015:R378Q	R	+	2	0	ZRSR2	15750970	0.574000	0.26684	0.009000	0.14445	0.045000	0.14185	3.839000	0.55835	2.441000	0.82636	0.594000	0.82650	CGG		0.532	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		37	55	0	0	0	1	0	37	55				
TEKT4P2	100132288	broad.mit.edu	37	21	9907198	9907198	+	RNA	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr21:9907198C>T	ENST00000416067.1	-	0	1594					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		GTGCAGAAAGCTAACGCACTG	0.592																																						ENST00000416067.1																			0																																																			100132288							g.chr21:9907198C>T			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907198C>T								NR_037872.1|NR_038327.1						0	1594	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.592	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		3	17	0	0	0	1	0	3	17				
SCAI	286205	broad.mit.edu	37	9	127738413	127738413	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:127738413G>A	ENST00000336505.6	-	15	1437	c.1379C>T	c.(1378-1380)gCa>gTa	p.A460V	SCAI_ENST00000373549.4_Missense_Mutation_p.A483V	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	460					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTTTGGATATGCTGTAGGAGA	0.333																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(1378-1380)gCa>gTa		suppressor of cancer cell invasion							98.0	97.0	97.0					9																	127738413		1842	4083	5925	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127738413G>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1379C>T	9.37:g.127738413G>A	ENSP00000336756:p.Ala460Val					SCAI_ENST00000373549.4_Missense_Mutation_p.A483V	p.A460V	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			15	1437	-			460					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1379C>T	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150452	0.37923	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.43688	0.94;0.94	4.97	4.97	0.65823	.	0.339927	0.34652	N	0.003783	T	0.31606	0.0802	N	0.22421	0.69	0.33613	D	0.603841	B;B	0.10296	0.0;0.003	B;B	0.08055	0.003;0.002	T	0.30880	-0.9963	10	0.28530	T	0.3	-5.9822	17.2222	0.86960	0.0:0.0:1.0:0.0	.	460;483	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	V	460;483	ENSP00000336756:A460V;ENSP00000362650:A483V	ENSP00000336756:A460V	A	-	2	0	SCAI	126778234	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.621000	0.61233	2.297000	0.77311	0.491000	0.48974	GCA		0.333	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		15	105	0	0	0	1	0	15	105				
FAM178A	55719	broad.mit.edu	37	10	102676438	102676438	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr10:102676438C>G	ENST00000238961.4	+	3	838	c.296C>G	c.(295-297)tCt>tGt	p.S99C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S99C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S99C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	99						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CCAAAAGAATCTAAACCCAAA	0.393																																						ENST00000238961.3																			0											c.(295-297)tCt>tGt		family with sequence similarity 178, member A							72.0	69.0	70.0					10																	102676438		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102676438C>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.296C>G	10.37:g.102676438C>G	ENSP00000238961:p.Ser99Cys					FAM178A_ENST00000370269.3_Missense_Mutation_p.S99C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S99C	p.S99C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			3	444	+			99					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.296C>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566623	0.45694	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.48201	0.82;1.43;1.43	5.12	3.07	0.35406	.	0.389365	0.22536	N	0.058793	T	0.40522	0.1120	N	0.19112	0.55	0.09310	N	1	P;P;D	0.67145	0.819;0.89;0.996	P;P;P	0.56216	0.545;0.545;0.794	T	0.11842	-1.0571	10	0.51188	T	0.08	-1.2059	5.1469	0.14989	0.0:0.6463:0.1706:0.1831	.	99;99;99	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	C	99	ENSP00000359294:S99C;ENSP00000238961:S99C;ENSP00000359292:S99C	ENSP00000238961:S99C	S	+	2	0	FAM178A	102666428	0.024000	0.19004	0.849000	0.33467	0.947000	0.59692	0.006000	0.13152	1.455000	0.47813	0.655000	0.94253	TCT		0.393	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			30	58	0	0	0	1	0	30	58				
SPTA1	6708	broad.mit.edu	37	1	158596713	158596713	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:158596713T>C	ENST00000368147.4	-	41	5929	c.5749A>G	c.(5749-5751)Ata>Gta	p.I1917V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1917					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAGCAGCTATTGCCTTAGCC	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5749-5751)Ata>Gta		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							176.0	172.0	174.0					1																	158596713		1873	4105	5978	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596713T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5749A>G	1.37:g.158596713T>C	ENSP00000357129:p.Ile1917Val					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.I1914V	p.I1917V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			41	5929	-	all_hematologic(112;0.0378)		1917					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5749A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.712724	0.30413	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	5.41	-3.26	0.05064	.	1.054510	0.07633	N	0.928915	T	0.13586	0.0329	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.27226	-1.0080	10	0.49607	T	0.09	.	0.9131	0.01298	0.3796:0.2779:0.1232:0.2193	.	1917	P02549	SPTA1_HUMAN	V	1917;1914	ENSP00000357130:I1917V;ENSP00000357129:I1914V	ENSP00000357129:I1914V	I	-	1	0	SPTA1	156863337	0.785000	0.28726	0.000000	0.03702	0.973000	0.67179	1.351000	0.34022	-0.778000	0.04566	0.460000	0.39030	ATA		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		117	131	0	0	0	1	0	117	131				
SEC16A	9919	broad.mit.edu	37	9	139350102	139350102	+	Silent	SNP	A	A	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:139350102A>C	ENST00000371706.3	-	18	5307	c.5274T>G	c.(5272-5274)ccT>ccG	p.P1758P	SEC16A_ENST00000431893.2_Silent_p.P1758P|SEC16A_ENST00000313050.7_Silent_p.P1936P|SEC16A_ENST00000290037.6_Silent_p.P1758P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1758	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTCGGTGCAGGCACCGCCA	0.677																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5806-5808)ccT>ccG		SEC16 homolog A (S. cerevisiae)							16.0	22.0	20.0					9																	139350102		2114	4211	6325	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139350102A>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5274T>G	9.37:g.139350102A>C						SEC16A_ENST00000371706.3_Silent_p.P1758P|SEC16A_ENST00000290037.6_Silent_p.P1758P|SEC16A_ENST00000431893.2_Silent_p.P1758P	p.P1936P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	18	5881	-		Myeloproliferative disorder(178;0.0511)	1758			Pro-rich.|Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.5808T>G																																																																																					0.677	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		3	12	0	0	0	1	0	3	12				
PTPRK	5796	broad.mit.edu	37	6	128304107	128304107	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:128304107G>A	ENST00000368215.3	-	24	3402	c.3403C>T	c.(3403-3405)Cat>Tat	p.H1135Y	PTPRK_ENST00000368213.5_Missense_Mutation_p.H1142Y|PTPRK_ENST00000368227.3_Missense_Mutation_p.H1153Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1158Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1136Y|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1154Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1168Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1135	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGCATCATGAATAAAAATG	0.318																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3457-3459)Cat>Tat		protein tyrosine phosphatase, receptor type, K							78.0	83.0	81.0					6																	128304107		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128304107G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3403C>T	6.37:g.128304107G>A	ENSP00000357198:p.His1135Tyr					PTPRK_ENST00000368210.3_Missense_Mutation_p.H1154Y|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1168Y|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1136Y|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1158Y|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1142Y|PTPRK_ENST00000368215.3_Missense_Mutation_p.H1135Y	p.H1153Y			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	25	3823	-			1135					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3457C>T		.	.	.	.	.	.	.	.	.	.	G	26.1	4.709343	0.89018	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.78	5.78	0.91487	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	N	0.20401	0.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.997;0.997;0.996;0.993	T	0.19614	-1.0300	10	0.62326	D	0.03	.	19.9972	0.97387	0.0:0.0:1.0:0.0	.	1158;1142;1135;1136	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	Y	1136;1153;1158;1142;1154;1135;1168	ENSP00000357209:H1136Y;ENSP00000357210:H1153Y;ENSP00000432973:H1158Y;ENSP00000357196:H1142Y;ENSP00000357193:H1154Y;ENSP00000357198:H1135Y;ENSP00000357190:H1168Y	ENSP00000357190:H1168Y	H	-	1	0	PTPRK	128345800	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.733000	0.93635	0.585000	0.79938	CAT		0.318	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			49	67	0	0	0	1	0	49	67				
SCARF1	8578	broad.mit.edu	37	17	1542221	1542221	+	Splice_Site	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:1542221C>T	ENST00000263071.4	-	8	1293		c.e8-1		SCARF1_ENST00000571272.1_Splice_Site|SCARF1_ENST00000348987.3_Splice_Site|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCAGAGCCTGGGGGAGCC	0.627																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.e8-1		scavenger receptor class F, member 1							36.0	43.0	41.0					17																	1542221		2203	4300	6503	SO:0001630	splice_region_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1542221C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1244-1G>A	17.37:g.1542221C>T						SCARF1_ENST00000571272.1_Splice_Site|SCARF1_ENST00000348987.3_Splice_Site		NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	8	1293	-								A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Splice_Site	SNP	ENST00000263071.4	37		CCDS11007.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734907	0.48939	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.266	0.87087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCARF1	1488971	0.929000	0.31497	0.922000	0.36590	0.017000	0.09413	4.106000	0.57804	2.748000	0.94277	0.655000	0.94253	.		0.627	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	Intron	31	38	0	0	0	1	0	31	38				
GCN1L1	10985	broad.mit.edu	37	12	120582451	120582451	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:120582451T>C	ENST00000300648.6	-	41	5356	c.5344A>G	c.(5344-5346)Atc>Gtc	p.I1782V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1782					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTTTGAGGATACAGGGGATG	0.532																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5344-5346)Atc>Gtc		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							108.0	107.0	107.0					12																	120582451		1985	4163	6148	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582451T>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5344A>G	12.37:g.120582451T>C	ENSP00000300648:p.Ile1782Val						p.I1782V	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			41	5356	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1782					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.5344A>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430235	0.62844	.	.	ENSG00000089154	ENST00000300648	T	0.67345	-0.26	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	L	0.45744	1.44	0.80722	D	1	P	0.42827	0.791	B	0.41036	0.346	T	0.66164	-0.5992	10	0.49607	T	0.09	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1782	Q92616	GCN1L_HUMAN	V	1782	ENSP00000300648:I1782V	ENSP00000300648:I1782V	I	-	1	0	GCN1L1	119066834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.107000	0.71517	2.371000	0.80710	0.533000	0.62120	ATC		0.532	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			38	100	0	0	0	1	0	38	100				
SAFB	6294	broad.mit.edu	37	19	5657268	5657268	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5657268A>C	ENST00000292123.5	+	14	1879	c.1772A>C	c.(1771-1773)gAt>gCt	p.D591A	SAFB_ENST00000433404.1_Missense_Mutation_p.D421A|SAFB_ENST00000592224.1_Missense_Mutation_p.D591A|SAFB_ENST00000588852.1_Missense_Mutation_p.D591A|SAFB_ENST00000538656.1_Missense_Mutation_p.D434A|SAFB_ENST00000454510.1_Missense_Mutation_p.D522A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	591	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAAAGCCAGGATCGCAAATCA	0.493																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(1771-1773)gAt>gCt		scaffold attachment factor B							64.0	60.0	61.0					19																	5657268		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5657268A>C	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1772A>C	19.37:g.5657268A>C	ENSP00000292123:p.Asp591Ala					SAFB_ENST00000454510.1_Missense_Mutation_p.D522A|SAFB_ENST00000433404.1_Missense_Mutation_p.D421A|SAFB_ENST00000592224.1_Missense_Mutation_p.D591A|SAFB_ENST00000588852.1_Missense_Mutation_p.D591A|SAFB_ENST00000538656.1_Missense_Mutation_p.D434A	p.D591A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	14	1879	+			591			Interaction with POLR2A.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.1772A>C	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425675	0.62733	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11604	2.78;2.95;2.76;2.8	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000014	T	0.32823	0.0842	M	0.74881	2.28	0.80722	D	1	P;D;D;D;D;D;D	0.63880	0.952;0.993;0.99;0.993;0.993;0.993;0.993	P;D;P;D;D;D;D	0.67103	0.536;0.93;0.725;0.949;0.949;0.949;0.949	T	0.03545	-1.1026	10	0.62326	D	0.03	-34.4485	15.5892	0.76512	1.0:0.0:0.0:0.0	.	390;434;522;591;591;591;591	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	A	522;486;421;591;434	ENSP00000415895:D522A;ENSP00000404545:D421A;ENSP00000292123:D591A;ENSP00000438880:D434A	ENSP00000292123:D591A	D	+	2	0	SAFB	5608268	1.000000	0.71417	0.990000	0.47175	0.865000	0.49528	7.271000	0.78506	2.221000	0.72209	0.455000	0.32223	GAT		0.493	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			24	60	0	0	0	1	0	24	60				
ZNF28	7576	broad.mit.edu	37	19	53303097	53303097	+	Silent	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53303097T>C	ENST00000457749.2	-	4	2120	c.2001A>G	c.(1999-2001)gaA>gaG	p.E667E	ZNF28_ENST00000438150.2_Silent_p.E614E|ZNF28_ENST00000360272.4_Silent_p.E614E|ZNF28_ENST00000414252.2_Silent_p.E614E	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCTTGCCACATTCATTACACT	0.423																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1840-1842)gaA>gaG		zinc finger protein 28							152.0	143.0	146.0					19																	53303097		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303097T>C	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2001A>G	19.37:g.53303097T>C						ZNF28_ENST00000457749.2_Silent_p.E667E|ZNF28_ENST00000360272.4_Silent_p.E614E|ZNF28_ENST00000414252.2_Silent_p.E614E	p.E614E			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2735	-			667					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1842A>G	CCDS33093.2																																																																																				0.423	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		45	194	0	0	0	1	0	45	194				
PTCHD2	57540	broad.mit.edu	37	1	11561648	11561648	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:11561648G>A	ENST00000294484.6	+	2	737	c.599G>A	c.(598-600)aGc>aAc	p.S200N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S200N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	200					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCAATCGGAGCGGGCGACTT	0.682																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(598-600)aGc>aAc		patched domain containing 2							11.0	15.0	14.0					1																	11561648		1952	4138	6090	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561648G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.599G>A	1.37:g.11561648G>A	ENSP00000294484:p.Ser200Asn					PTCHD2_ENST00000389575.3_Missense_Mutation_p.S200N	p.S200N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	737	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	200					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.599G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	8.836	0.941174	0.18281	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.27104	1.69;1.69	5.53	3.36	0.38483	.	.	.	.	.	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33650	-0.9860	9	0.15066	T	0.55	-2.201	3.8788	0.09069	0.1269:0.0:0.4423:0.4308	.	200	Q9P2K9	PTHD2_HUMAN	N	200	ENSP00000294484:S200N;ENSP00000374226:S200N	ENSP00000294484:S200N	S	+	2	0	PTCHD2	11484235	0.000000	0.05858	0.002000	0.10522	0.676000	0.39594	0.308000	0.19314	1.287000	0.44583	0.561000	0.74099	AGC		0.682	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		6	13	0	0	0	1	0	6	13				
SFSWAP	6433	broad.mit.edu	37	12	132240012	132240012	+	Silent	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:132240012C>T	ENST00000261674.4	+	10	1677	c.1536C>T	c.(1534-1536)ggC>ggT	p.G512G	SFSWAP_ENST00000541286.1_Silent_p.G512G|RP11-495K9.5_ENST00000537032.1_lincRNA	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	512			G -> S (in dbSNP:rs34541796).		mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.G512G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAGAAGGGGGCGATAGCATGC	0.478											OREG0022261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261674.4																			1	Substitution - coding silent(1)	p.G512G(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1534-1536)ggC>ggT		splicing factor, suppressor of white-apricot homolog (Drosophila)							82.0	80.0	81.0					12																	132240012		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132240012C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1536C>T	12.37:g.132240012C>T			OREG0022261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1593	SFSWAP_ENST00000541286.1_Silent_p.G512G	p.G512G	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			10	1677	+			512		G -> S (in dbSNP:rs34541796).			B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.1536C>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263448	0.10294	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.38	-1.28	0.09318	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	-12.0835	3.1917	0.06619	0.1081:0.3372:0.1061:0.4486	.	.	.	.	V	152	.	.	A	+	2	0	SFSWAP	130805965	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-2.164000	0.01275	-0.611000	0.05709	-0.224000	0.12420	GCG		0.478	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		17	70	0	0	0	1	0	17	70				
FMN2	56776	broad.mit.edu	37	1	240637438	240637438	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:240637438T>C	ENST00000319653.9	+	18	5383	c.5153T>C	c.(5152-5154)aTa>aCa	p.I1718T	FMN2_ENST00000543681.1_Missense_Mutation_p.I38T|FMN2_ENST00000496950.1_3'UTR|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000545751.1_Missense_Mutation_p.I314T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1718	Important for interaction with SPIRE1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAAGCAAAGATAAGCATGAAA	0.333																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(5152-5154)aTa>aCa		formin 2							56.0	50.0	52.0					1																	240637438		2198	4300	6498	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240637438T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5153T>C	1.37:g.240637438T>C	ENSP00000318884:p.Ile1718Thr					FMN2_ENST00000545751.1_Missense_Mutation_p.I314T|FMN2_ENST00000543681.1_Missense_Mutation_p.I38T|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_3'UTR	p.I1718T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		18	5383	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1718					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.5153T>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	12.72	2.021333	0.35701	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000406993;ENST00000543681	T;T	0.29917	1.55;1.79	5.83	4.68	0.58851	.	0.097704	0.42294	D	0.000733	T	0.35451	0.0932	N	0.19112	0.55	0.33758	D	0.62152	P;D;D	0.69078	0.808;0.997;0.979	B;P;P	0.60789	0.112;0.879;0.791	T	0.52358	-0.8586	10	0.72032	D	0.01	.	11.811	0.52183	0.0:0.0:0.1467:0.8533	.	314;347;1718	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	T	1718;314;194;38	ENSP00000318884:I1718T;ENSP00000437918:I314T	ENSP00000318884:I1718T	I	+	2	0	FMN2	238704061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.789000	0.62446	1.003000	0.39130	0.533000	0.62120	ATA		0.333	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		47	57	0	0	0	1	0	47	57				
KIF26B	55083	broad.mit.edu	37	1	245847604	245847604	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:245847604G>A	ENST00000407071.2	+	11	2768	c.2328G>A	c.(2326-2328)gcG>gcA	p.A776A	KIF26B_ENST00000366518.4_Silent_p.A395A	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	776	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCATGATCGCGCACATCTCGG	0.542																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1183-1185)gcG>gcA		kinesin family member 26B							67.0	73.0	71.0					1																	245847604		2085	4204	6289	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245847604G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2328G>A	1.37:g.245847604G>A						KIF26B_ENST00000407071.2_Silent_p.A776A	p.A395A			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		8	1289	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		776					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1185G>A	CCDS44342.1																																																																																				0.542	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		19	56	0	0	0	1	0	19	56				
ZNF28	7576	broad.mit.edu	37	19	53303125	53303125	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:53303125C>G	ENST00000457749.2	-	4	2092	c.1973G>C	c.(1972-1974)aGt>aCt	p.S658T	ZNF28_ENST00000438150.2_Missense_Mutation_p.S605T|ZNF28_ENST00000360272.4_Missense_Mutation_p.S605T|ZNF28_ENST00000414252.2_Missense_Mutation_p.S605T	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCACTATGAAGCCT	0.428																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1813-1815)aGt>aCt		zinc finger protein 28							178.0	168.0	172.0					19																	53303125		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303125C>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1973G>C	19.37:g.53303125C>G	ENSP00000397693:p.Ser658Thr					ZNF28_ENST00000457749.2_Missense_Mutation_p.S658T|ZNF28_ENST00000360272.4_Missense_Mutation_p.S605T|ZNF28_ENST00000414252.2_Missense_Mutation_p.S605T	p.S605T			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2707	-			658					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1814G>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.017	-1.502599	0.00992	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	1.81	-3.62	0.04543	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.02391	-0.57	0.21020	N	0.999804	B	0.10296	0.003	B	0.12837	0.008	T	0.40001	-0.9586	9	0.02654	T	1	.	5.9032	0.18978	0.0:0.1854:0.4429:0.3717	.	658	P17035	ZNF28_HUMAN	T	605;658;605;605	ENSP00000412143:S605T;ENSP00000397693:S658T;ENSP00000353410:S605T;ENSP00000444965:S605T	ENSP00000353410:S605T	S	-	2	0	ZNF28	57994937	0.018000	0.18449	0.033000	0.17914	0.033000	0.12548	-0.047000	0.11963	-1.041000	0.03266	-0.789000	0.03336	AGT		0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		22	214	0	0	0	1	0	22	214				
NYAP1	222950	broad.mit.edu	37	7	100086348	100086348	+	Missense_Mutation	SNP	C	C	T	rs141511133		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:100086348C>T	ENST00000300179.2	+	4	1163	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	NYAP1_ENST00000423930.1_Missense_Mutation_p.P335L|NYAP1_ENST00000454988.1_Missense_Mutation_p.P278L	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	335	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CAGCACCGGCCTCCACTCCTG	0.672																																						ENST00000423930.1																			0											c.(1003-1005)cCt>cTt		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1		C	LEU/PRO	0,4394		0,0,2197	48.0	48.0	48.0		1004	5.0	1.0	7	dbSNP_134	48	1,8575		0,1,4287	no	missense	C7orf51	NM_173564.2	98	0,1,6484	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	335/842	100086348	1,12969	2197	4288	6485	SO:0001583	missense	222950							g.chr7:100086348C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1004C>T	7.37:g.100086348C>T	ENSP00000300179:p.Pro335Leu					NYAP1_ENST00000454988.1_Missense_Mutation_p.P278L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P335L	p.P335L			Q6ZVC0	CG051_HUMAN			4	1163	+			335			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1004C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154025	0.57259	0.0	1.17E-4	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.79749	-1.3;-1.3;-1.3	4.97	4.97	0.65823	.	0.000000	0.48286	D	0.000182	D	0.87692	0.6241	L	0.58510	1.815	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88981	0.3408	10	0.87932	D	0	-7.2208	15.7143	0.77655	0.0:1.0:0.0:0.0	.	278;335	C9JS30;Q6ZVC0	.;CG051_HUMAN	L	335;335;278	ENSP00000300179:P335L;ENSP00000411861:P335L;ENSP00000394424:P278L	ENSP00000300179:P335L	P	+	2	0	C7orf51	99924284	0.996000	0.38824	0.997000	0.53966	0.845000	0.48019	4.137000	0.58010	2.299000	0.77371	0.462000	0.41574	CCT		0.672	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		42	67	0	0	0	1	0	42	67				
CCBL2	56267	broad.mit.edu	37	1	89427797	89427797	+	Missense_Mutation	SNP	T	T	C	rs373497698		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:89427797T>C	ENST00000260508.4	-	6	822	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.Y128C|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	162					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CATGGGCTCATAGCAGTCATA	0.378																																						ENST00000260508.4																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18						c.(484-486)tAt>tGt		cysteine conjugate-beta lyase 2	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	127.0	115.0	119.0		485,383	5.9	1.0	1		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCBL2	NM_001008661.2,NM_001008662.2	194,194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/455,128/421	89427797	1,13005	2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89427797T>C	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.485A>G	1.37:g.89427797T>C	ENSP00000260508:p.Tyr162Cys					CCBL2_ENST00000370491.3_Missense_Mutation_p.Y128C|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR	p.Y162C	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	6	822	-		Lung NSC(277;0.123)	162					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.485A>G	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506173	0.85282	0.0	1.16E-4	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	D;D;D	0.92348	-3.02;-3.02;-3.02	5.92	5.92	0.95590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98956	1.0796	10	0.87932	D	0	-11.8675	16.3413	0.83082	0.0:0.0:0.0:1.0	.	162	Q6YP21	KAT3_HUMAN	C	128;162;162	ENSP00000359522:Y128C;ENSP00000260508:Y162C;ENSP00000359517:Y162C	ENSP00000260508:Y162C	Y	-	2	0	CCBL2	89200385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	2.257000	0.74773	0.533000	0.62120	TAT		0.378	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		23	79	0	0	0	1	0	23	79				
KCNJ12	3768	broad.mit.edu	37	17	21318755	21318755	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:21318755G>A	ENST00000583088.1	+	3	996	c.101G>A	c.(100-102)gGc>gAc	p.G34D	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34D	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	34					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTCGGCAACGGCAAGGTGCAC	0.632										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(100-102)gGc>gAc		potassium inwardly-rectifying channel, subfamily J, member 12							97.0	78.0	84.0					17																	21318755		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318755G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.101G>A	17.37:g.21318755G>A	ENSP00000463778:p.Gly34Asp	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G34D	p.G34D	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	996	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.101G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368587	0.82463	.	.	ENSG00000184185	ENST00000331718	T	0.71817	-0.6	5.33	4.35	0.52113	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.105154	0.64402	D	0.000004	T	0.81730	0.4884	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.82629	-0.0363	10	0.49607	T	0.09	.	15.9953	0.80234	0.0:0.135:0.865:0.0	.	34	Q14500	IRK12_HUMAN	D	34	ENSP00000328150:G34D	ENSP00000328150:G34D	G	+	2	0	KCNJ12	21259348	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.851000	0.86920	1.242000	0.43836	0.591000	0.81541	GGC		0.632	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		6	94	0	0	0	1	0	6	94				
ZNF30	90075	broad.mit.edu	37	19	35435232	35435232	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:35435232A>C	ENST00000601142.1	+	5	1599	c.1362A>C	c.(1360-1362)aaA>aaC	p.K454N	ZNF30_ENST00000439785.1_Missense_Mutation_p.K455N|ZNF30_ENST00000426813.2_Missense_Mutation_p.K373N|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.K455N			P17039	ZNF30_HUMAN	zinc finger protein 30	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTGGAGAGAAACCCTATGAGT	0.443																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(1363-1365)aaA>aaC		zinc finger protein 30							62.0	63.0	63.0					19																	35435232		2203	4299	6502	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435232A>C	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1362A>C	19.37:g.35435232A>C	ENSP00000469954:p.Lys454Asn					ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.K455N|ZNF30_ENST00000601142.1_Missense_Mutation_p.K454N|ZNF30_ENST00000426813.2_Missense_Mutation_p.K373N	p.K455N	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1809	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		454					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.1365A>C	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	a	19.43	3.825555	0.71143	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.26067	1.76;1.76	2.2	2.2	0.27929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42314	0.1197	M	0.77616	2.38	0.25467	N	0.987867	D;D	0.69078	0.996;0.997	P;P	0.56788	0.77;0.806	T	0.19031	-1.0318	9	0.87932	D	0	.	7.9733	0.30140	1.0:0.0:0.0:0.0	.	455;454	P17039-2;P17039	.;ZNF30_HUMAN	N	455;454;373;163	ENSP00000403441:K455N;ENSP00000416457:K373N	ENSP00000303889:K454N	K	+	3	2	ZNF30	40127072	0.091000	0.21658	0.376000	0.26042	0.518000	0.34316	-0.518000	0.06267	1.015000	0.39444	0.416000	0.27883	AAA		0.443	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		18	50	0	0	0	1	0	18	50				
HMCES	56941	broad.mit.edu	37	3	129023529	129023529	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129023529C>T	ENST00000383463.4	+	7	1015	c.926C>T	c.(925-927)tCa>tTa	p.S309L	HMCES_ENST00000389735.3_Missense_Mutation_p.S309L|HMCES_ENST00000502878.2_Missense_Mutation_p.S309L|HMCES_ENST00000417226.2_Missense_Mutation_p.S267L	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	309							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										AAGGAAGAGTCAGATGTTCCC	0.532																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(925-927)tCa>tTa									111.0	104.0	106.0					3																	129023529		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129023529C>T	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.926C>T	3.37:g.129023529C>T	ENSP00000372955:p.Ser309Leu					C3orf37_ENST00000502878.2_Missense_Mutation_p.S309L|C3orf37_ENST00000417226.2_Missense_Mutation_p.S267L|C3orf37_ENST00000389735.3_Missense_Mutation_p.S309L	p.S309L	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			7	1015	+			309					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.926C>T	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364424	0.24684	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.44	4.44	0.53790	.	2.418780	0.01556	N	0.019887	T	0.50871	0.1641	M	0.64997	1.995	0.19775	N	0.999959	B;B	0.29341	0.242;0.112	B;B	0.21151	0.015;0.033	T	0.48019	-0.9071	9	0.26408	T	0.33	-0.1219	14.94	0.70986	0.0:1.0:0.0:0.0	.	267;309	E7EMP6;Q96FZ2	.;CC037_HUMAN	L	261;309;267;309;309	.	ENSP00000372955:S309L	S	+	2	0	C3orf37	130506219	0.008000	0.16893	0.007000	0.13788	0.289000	0.27227	0.758000	0.26447	2.187000	0.69744	0.591000	0.81541	TCA		0.532	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		22	107	0	0	0	1	0	22	107				
SSPO	23145	broad.mit.edu	37	7	149492440	149492440	+	RNA	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:149492440G>A	ENST00000378016.2	+	0	6329							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCACGCTGGAGGGGATGCT	0.657																																						ENST00000378016.2																			0													SCO-spondin							14.0	17.0	16.0					7																	149492440		2016	4152	6168			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492440G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492440G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6329	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	15	0	0	0	1	0	13	15				
ZFAND4	93550	broad.mit.edu	37	10	46121831	46121831	+	Silent	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr10:46121831T>C	ENST00000344646.5	-	7	1655	c.1440A>G	c.(1438-1440)ccA>ccG	p.P480P	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Silent_p.P406P|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	480							zinc ion binding (GO:0008270)										GTAGCGACATTGGTGCAGAAC	0.438																																						ENST00000374366.3																			0											c.(1216-1218)ccA>ccG		zinc finger, AN1-type domain 4							130.0	132.0	131.0					10																	46121831		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46121831T>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1440A>G	10.37:g.46121831T>C						ZFAND4_ENST00000344646.5_Silent_p.P480P|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR	p.P406P			Q86XD8	ANUB1_HUMAN			8	1683	-			480					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.1218A>G	CCDS7214.1																																																																																				0.438	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		88	216	0	0	0	1	0	88	216				
LAMTOR2	28956	broad.mit.edu	37	1	156024746	156024746	+	Silent	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:156024746C>T	ENST00000368305.4	+	1	204	c.66C>T	c.(64-66)acC>acT	p.T22T	UBQLN4_ENST00000472638.1_5'Flank|LAMTOR2_ENST00000368304.5_Silent_p.T22T|LAMTOR2_ENST00000368302.3_Silent_p.T22T|UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	22					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						TCCAGAGCACCCTGTGAGTGC	0.662																																						ENST00000368305.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(64-66)acC>acT		late endosomal/lysosomal adaptor, MAPK and MTOR activator 2							30.0	28.0	29.0					1																	156024746		2203	4300	6503	SO:0001819	synonymous_variant	28956				cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		g.chr1:156024746C>T	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.66C>T	1.37:g.156024746C>T						LAMTOR2_ENST00000368302.3_Silent_p.T22T|LAMTOR2_ENST00000368304.5_Silent_p.T22T|LAMTOR2_ENST00000489664.1_3'UTR	p.T22T	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN			1	204	+			22					Q5VY97|Q5VY98|Q5VY99	Silent	SNP	ENST00000368305.4	37	c.66C>T	CCDS1128.1																																																																																				0.662	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		17	15	0	0	0	1	0	17	15				
MRPL51	51258	broad.mit.edu	37	12	6601546	6601546	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:6601546C>T	ENST00000229238.3	-	3	739	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_5'UTR|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000545962.1_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	93					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TTTCCTCTTTCGGATACAACG	0.443																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(277-279)cGa>cAa		mitochondrial ribosomal protein L51							333.0	330.0	331.0					12																	6601546		2203	4300	6503	SO:0001583	missense	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6601546C>T	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.278G>A	12.37:g.6601546C>T	ENSP00000229238:p.Arg93Gln					MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	p.R93Q	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			3	739	-			93					Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	ENST00000229238.3	37	c.278G>A	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308524	0.95629	.	.	ENSG00000111639	ENST00000229238	T	0.53857	0.6	5.32	5.32	0.75619	.	0.054825	0.64402	D	0.000001	T	0.75317	0.3833	M	0.89715	3.055	0.58432	D	0.999995	D	0.63046	0.992	P	0.57776	0.827	T	0.81699	-0.0814	10	0.87932	D	0	-20.5379	18.5775	0.91161	0.0:1.0:0.0:0.0	.	93	Q4U2R6	RM51_HUMAN	Q	93	ENSP00000229238:R93Q	ENSP00000229238:R93Q	R	-	2	0	MRPL51	6471807	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	5.673000	0.68109	2.478000	0.83669	0.462000	0.41574	CGA		0.443	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		194	447	0	0	0	1	0	194	447				
ANKRD36C	400986	broad.mit.edu	37	2	96525610	96525610	+	Splice_Site	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:96525610T>C	ENST00000456556.1	-	61	3979	c.3895A>G	c.(3895-3897)Aga>Gga	p.R1299G	ANKRD36C_ENST00000419039.2_Splice_Site_p.R326G|ANKRD36C_ENST00000420871.2_Splice_Site_p.R550G			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1299							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGGTCATACCTCAAACTACAG	0.299																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.e61+1		ankyrin repeat domain 36C																																				SO:0001630	splice_region_variant	400986							g.chr2:96525610T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3896+1A>G	2.37:g.96525610T>C						ANKRD36C_ENST00000419039.2_Splice_Site_p.R326_splice|ANKRD36C_ENST00000420871.2_Splice_Site_p.R550_splice	p.R1299_splice							61	3979	-								C9JZ08|Q15694|Q53S06|Q658V2	Splice_Site	SNP	ENST00000456556.1	37	c.3896_splice		.	.	.	.	.	.	.	.	.	.	t	3.692	-0.063226	0.07273	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.23147	1.92;1.92;1.92	1.85	-1.22	0.09494	.	.	.	.	.	T	0.39860	0.1094	M	0.73962	2.25	0.23356	N	0.997846	P	0.48350	0.909	P	0.60789	0.879	T	0.26430	-1.0103	9	0.59425	D	0.04	.	3.3263	0.07068	0.2258:0.0:0.2311:0.543	.	1299	Q5JPF3	AN36C_HUMAN	G	550;1299;326	ENSP00000415231:R550G;ENSP00000403302:R1299G;ENSP00000407838:R326G	ENSP00000407838:R326G	R	-	1	2	AC073995.2	95889337	1.000000	0.71417	0.042000	0.18584	0.024000	0.10985	1.695000	0.37763	-0.265000	0.09352	0.247000	0.18012	AGA		0.299	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914	Missense_Mutation	3	19	0	0	0	1	0	3	19				
NPAP1	23742	broad.mit.edu	37	15	24921051	24921051	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:24921051C>T	ENST00000329468.2	+	1	511	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACCCGGGTGCCGCCGCCGGCC	0.667																																						ENST00000329468.2																			0											c.(37-39)Cgc>Tgc		nuclear pore associated protein 1							5.0	7.0	6.0					15																	24921051		2010	4047	6057	SO:0001583	missense	23742							g.chr15:24921051C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.37C>T	15.37:g.24921051C>T	ENSP00000333735:p.Arg13Cys						p.R13C	NM_018958.2	NP_061831.2					1	511	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.37C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.07	2.425694	0.43020	.	.	ENSG00000185823	ENST00000329468	T	0.13307	2.6	1.88	-1.29	0.09288	.	.	.	.	.	T	0.08447	0.0210	L	0.29908	0.895	0.09310	N	1	B	0.22604	0.072	B	0.08055	0.003	T	0.31166	-0.9953	9	0.48119	T	0.1	.	5.0254	0.14381	0.0:0.521:0.0:0.479	.	13	Q9NZP6	CO002_HUMAN	C	13	ENSP00000333735:R13C	ENSP00000333735:R13C	R	+	1	0	C15orf2	22472144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.620000	0.05565	-0.322000	0.08615	0.491000	0.48974	CGC		0.667	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		20	11	0	0	0	1	0	20	11				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	230	0	0	0	1	0	4	230				
PTCHD2	57540	broad.mit.edu	37	1	11586758	11586758	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr1:11586758G>A	ENST00000294484.6	+	13	2802	c.2664G>A	c.(2662-2664)atG>atA	p.M888I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.M888I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	888					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGCTTGTATGTCTACAGTAG	0.572																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(2662-2664)atG>atA		patched domain containing 2							128.0	134.0	132.0					1																	11586758		1976	4157	6133	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11586758G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2664G>A	1.37:g.11586758G>A	ENSP00000294484:p.Met888Ile					PTCHD2_ENST00000389575.3_Missense_Mutation_p.M888I	p.M888I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	13	2802	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	888					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.2664G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555734	0.45487	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89196	-2.48;-2.48	5.58	4.67	0.58626	.	0.136440	0.56097	D	0.000024	T	0.82056	0.4954	N	0.24115	0.695	0.39966	D	0.974728	B	0.10296	0.003	B	0.06405	0.002	T	0.78301	-0.2257	10	0.52906	T	0.07	-29.3238	13.7367	0.62821	0.0741:0.0:0.9259:0.0	.	888	Q9P2K9	PTHD2_HUMAN	I	888	ENSP00000294484:M888I;ENSP00000374226:M888I	ENSP00000294484:M888I	M	+	3	0	PTCHD2	11509345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.221000	0.72243	1.354000	0.45846	0.462000	0.41574	ATG		0.572	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		136	209	0	0	0	1	0	136	209				
HCRTR2	3062	broad.mit.edu	37	6	55147083	55147083	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:55147083G>A	ENST00000370862.3	+	7	1502	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	389					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCACCATCGCCAGGAGGAT	0.443																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1165-1167)cGc>cAc		hypocretin (orexin) receptor 2							74.0	70.0	71.0					6																	55147083		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55147083G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1166G>A	6.37:g.55147083G>A	ENSP00000359899:p.Arg389His						p.R389H	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1502	+	Lung NSC(77;0.107)|Renal(3;0.122)		389					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.1166G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457277	0.43634	.	.	ENSG00000137252	ENST00000370862	T	0.38560	1.13	5.51	4.63	0.57726	.	0.610438	0.18004	N	0.154795	T	0.07683	0.0193	N	0.04508	-0.205	0.33735	D	0.61875	B	0.10296	0.003	B	0.06405	0.002	T	0.24083	-1.0170	10	0.16896	T	0.51	.	7.3865	0.26884	0.265:0.0:0.735:0.0	.	389	O43614	OX2R_HUMAN	H	389	ENSP00000359899:R389H	ENSP00000359899:R389H	R	+	2	0	HCRTR2	55255042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.294000	0.33365	2.585000	0.87301	0.650000	0.86243	CGC		0.443	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			21	36	0	0	0	1	0	21	36				
POMZP3	22932	broad.mit.edu	37	7	76254879	76254879	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:76254879C>G	ENST00000310842.4	-	3	871	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	POMZP3_ENST00000275569.4_Missense_Mutation_p.E63Q|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	63										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				ATTTGGTCTTCTTCCTCCACT	0.468																																						ENST00000310842.4																			0				kidney(3)|lung(2)	5						c.(187-189)Gaa>Caa		POM121 and ZP3 fusion							144.0	134.0	137.0					7																	76254879		2202	4280	6482	SO:0001583	missense	22932							g.chr7:76254879C>G	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.187G>C	7.37:g.76254879C>G	ENSP00000309233:p.Glu63Gln					POMZP3_ENST00000275569.4_Missense_Mutation_p.E63Q|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	p.E63Q	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN			3	871	-		Myeloproliferative disorder(862;0.204)	63					F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	c.187G>C	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.285964	0.40394	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.49139	1.29;0.79	0.694	0.694	0.18062	.	1.338720	0.05374	N	0.535935	T	0.59032	0.2164	M	0.77103	2.36	0.19300	N	0.99998	P	0.51653	0.947	P	0.53490	0.727	T	0.45469	-0.9259	10	0.56958	D	0.05	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	63	Q6PJE2	POZP3_HUMAN	Q	63	ENSP00000309233:E63Q;ENSP00000405319:E63Q	ENSP00000275569:E63Q	E	-	1	0	POMZP3	76092815	1.000000	0.71417	0.821000	0.32701	0.819000	0.46315	1.854000	0.39368	0.690000	0.31570	0.472000	0.43445	GAA		0.468	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	NM_012230		5	374	0	0	0	1	0	5	374				
TTN	7273	broad.mit.edu	37	2	179433613	179433613	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:179433613G>A	ENST00000591111.1	-	276	72547	c.72323C>T	c.(72322-72324)gCt>gTt	p.A24108V	TTN_ENST00000460472.2_Missense_Mutation_p.A16684V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A25749V|TTN_ENST00000359218.5_Missense_Mutation_p.A16809V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23181V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16876V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24108	Fibronectin type-III 75. {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)			CTTTACTCGAGCACACTCTGA	0.398																																						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.(77245-77247)gCt>gTt		titin							140.0	138.0	139.0					2																	179433613		1968	4149	6117	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433613G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72323C>T	2.37:g.179433613G>A	ENSP00000465570:p.Ala24108Val					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16684V|TTN_ENST00000342992.6_Missense_Mutation_p.A23181V|TTN_ENST00000359218.5_Missense_Mutation_p.A16809V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A24108V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16876V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.A25749V	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	77470	-			24108			Fibronectin type-III 87.		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.77246C>T		.	.	.	.	.	.	.	.	.	.	G	12.82	2.051967	0.36181	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.83	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43523	0.1251	L	0.41492	1.28	0.48632	D	0.999687	P;P;P;P	0.36599	0.56;0.56;0.56;0.524	B;B;B;B	0.26202	0.055;0.055;0.055;0.067	T	0.47873	-0.9083	9	0.87932	D	0	.	17.1683	0.86821	0.0:0.1261:0.8739:0.0	.	16684;16809;16876;24108	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	23181;16684;16876;16809;16682	ENSP00000343764:A23181V;ENSP00000434586:A16684V;ENSP00000340554:A16876V;ENSP00000352154:A16809V	ENSP00000340554:A16876V	A	-	2	0	TTN	179141859	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.042000	0.89430	1.434000	0.47414	0.650000	0.86243	GCT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	175	0	0	0	1	0	4	175				
U2SURP	23350	broad.mit.edu	37	3	142731068	142731068	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:142731068A>T	ENST00000473835.2	+	3	185	c.95A>T	c.(94-96)gAt>gTt	p.D32V	U2SURP_ENST00000397933.2_De_novo_Start_InFrame|U2SURP_ENST00000493598.2_Missense_Mutation_p.D32V	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	32					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CTGAAGATGGATGCATCTGGA	0.383																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31								U2 snRNP-associated SURP domain containing							113.0	98.0	103.0					3																	142731068		1844	4090	5934	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142731068A>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.95A>T	3.37:g.142731068A>T	ENSP00000418563:p.Asp32Val					U2SURP_ENST00000493598.2_Missense_Mutation_p.D32V|U2SURP_ENST00000473835.2_Missense_Mutation_p.D32V				O15042	SR140_HUMAN			0	194	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Translation_Start_Site	SNP	ENST00000473835.2	37		CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932454	0.52866	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.10192	2.9;2.9	5.66	5.66	0.87406	.	0.214783	0.41001	D	0.000961	T	0.15435	0.0372	N	0.08118	0	0.80722	D	1	B;D;D	0.58970	0.028;0.984;0.972	B;D;D	0.73380	0.019;0.98;0.954	T	0.20107	-1.0285	10	0.87932	D	0	-23.1179	12.5837	0.56406	1.0:0.0:0.0:0.0	.	32;32;32	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	V	32;32;32;32;2	ENSP00000418563:D32V;ENSP00000422011:D32V	ENSP00000322376:D32V	D	+	2	0	U2SURP	144213758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.194000	0.58393	2.285000	0.76669	0.533000	0.62120	GAT		0.383	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		30	20	0	0	0	1	0	30	20				
KRT4	3851	broad.mit.edu	37	12	53202561	53202561	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:53202561T>C	ENST00000551956.1	-	5	1400	c.908A>G	c.(907-909)gAc>gGc	p.D303G	KRT4_ENST00000293774.4_Missense_Mutation_p.D377G|KRT4_ENST00000458244.2_Missense_Mutation_p.D283G			P19013	K2C4_HUMAN	keratin 4	317	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGTCCAGGTCCAGGTTGCG	0.587																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(907-909)gAc>gGc		keratin 4							110.0	99.0	103.0					12																	53202561		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202561T>C		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.908A>G	12.37:g.53202561T>C	ENSP00000448220:p.Asp303Gly					KRT4_ENST00000458244.2_Missense_Mutation_p.D283G|KRT4_ENST00000293774.4_Missense_Mutation_p.D377G	p.D303G			B4DRS2	B4DRS2_HUMAN			5	1400	-			303					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.908A>G	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880864	0.91740	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.92545	-3.06;-3.06;-3.06	5.75	5.75	0.90469	Filament (1);	0.000000	0.50627	D	0.000107	D	0.97383	0.9144	H	0.97682	4.055	0.58432	D	0.999998	P	0.45672	0.864	P	0.59546	0.859	D	0.98530	1.0627	10	0.87932	D	0	.	16.3694	0.83347	0.0:0.0:0.0:1.0	.	317	P19013	K2C4_HUMAN	G	303;377;283	ENSP00000448220:D303G;ENSP00000293774:D377G;ENSP00000387904:D283G	ENSP00000293774:D377G	D	-	2	0	KRT4	51488828	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	GAC		0.587	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		22	77	0	0	0	1	0	22	77				
SAFB	6294	broad.mit.edu	37	19	5657267	5657267	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5657267G>A	ENST00000292123.5	+	14	1878	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	SAFB_ENST00000433404.1_Missense_Mutation_p.D421N|SAFB_ENST00000592224.1_Missense_Mutation_p.D591N|SAFB_ENST00000588852.1_Missense_Mutation_p.D591N|SAFB_ENST00000538656.1_Missense_Mutation_p.D434N|SAFB_ENST00000454510.1_Missense_Mutation_p.D522N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	591	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAAAAGCCAGGATCGCAAATC	0.488																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(1771-1773)Gat>Aat		scaffold attachment factor B							63.0	59.0	60.0					19																	5657267		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5657267G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1771G>A	19.37:g.5657267G>A	ENSP00000292123:p.Asp591Asn					SAFB_ENST00000454510.1_Missense_Mutation_p.D522N|SAFB_ENST00000433404.1_Missense_Mutation_p.D421N|SAFB_ENST00000592224.1_Missense_Mutation_p.D591N|SAFB_ENST00000588852.1_Missense_Mutation_p.D591N|SAFB_ENST00000538656.1_Missense_Mutation_p.D434N	p.D591N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	14	1878	+			591			Interaction with POLR2A.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.1771G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318451	0.81469	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11712	2.77;2.94;2.75;2.78	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000014	T	0.32071	0.0817	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.986;0.999;0.997;0.999;0.999;0.999;0.999	P;D;P;D;D;D;D	0.72625	0.722;0.978;0.856;0.978;0.978;0.978;0.978	T	0.00258	-1.1871	10	0.41790	T	0.15	-34.4485	19.3873	0.94563	0.0:0.0:1.0:0.0	.	390;434;522;591;591;591;591	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	N	522;486;421;591;434	ENSP00000415895:D522N;ENSP00000404545:D421N;ENSP00000292123:D591N;ENSP00000438880:D434N	ENSP00000292123:D591N	D	+	1	0	SAFB	5608267	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.680000	0.84062	2.752000	0.94435	0.557000	0.71058	GAT		0.488	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			24	58	0	0	0	1	0	24	58				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			4	129	0	0	0	1	0	4	129				
BBS4	585	broad.mit.edu	37	15	73028230	73028230	+	Missense_Mutation	SNP	G	G	T	rs370963556		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:73028230G>T	ENST00000268057.4	+	14	1212	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S	BBS4_ENST00000395205.2_Missense_Mutation_p.A399S|BBS4_ENST00000542334.1_Missense_Mutation_p.A219S|BBS4_ENST00000539603.1_Missense_Mutation_p.A379S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1171-1173)Gcc>Tcc		Bardet-Biedl syndrome 4							130.0	125.0	127.0					15																	73028230		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73028230G>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1171G>T	15.37:g.73028230G>T	ENSP00000268057:p.Ala391Ser					BBS4_ENST00000542334.1_Missense_Mutation_p.A219S|BBS4_ENST00000539603.1_Missense_Mutation_p.A379S|BBS4_ENST00000395205.2_Missense_Mutation_p.A399S	p.A391S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			14	1212	+			391			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1171G>T	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945834	0.53079	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;D;D;D	0.91237	-0.64;-2.81;-2.81;-2.81	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.164086	0.53938	D	0.000051	D	0.91005	0.7171	L	0.58810	1.83	0.80722	D	1	P;P;P	0.52842	0.956;0.908;0.926	P;B;B	0.47118	0.538;0.376;0.431	D	0.90954	0.4807	10	0.48119	T	0.1	-10.4598	17.98	0.89138	0.0:0.0:1.0:0.0	.	379;399;391	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	S	219;391;379;399	ENSP00000445964:A219S;ENSP00000268057:A391S;ENSP00000442492:A379S;ENSP00000378631:A399S	ENSP00000268057:A391S	A	+	1	0	BBS4	70815283	1.000000	0.71417	0.961000	0.40146	0.319000	0.28217	7.526000	0.81920	2.686000	0.91538	0.650000	0.86243	GCC		0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		64	221	1	0	3.94839e-29	1	4.33836e-29	64	221				
FNIP1	96459	broad.mit.edu	37	5	131008049	131008049	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:131008049C>A	ENST00000510461.1	-	14	2183	c.2088G>T	c.(2086-2088)gaG>gaT	p.E696D	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.E668D|FNIP1_ENST00000307954.8_Missense_Mutation_p.E651D	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	696					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CTAAGCCTGACTCTGACAATG	0.433																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2002-2004)gaG>gaT		folliculin interacting protein 1							223.0	208.0	213.0					5																	131008049		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131008049C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2088G>T	5.37:g.131008049C>A	ENSP00000421985:p.Glu696Asp					FNIP1_ENST00000307954.8_Missense_Mutation_p.E651D|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E696D	p.E668D	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2003	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.2004G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243121	0.10077	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.15139	2.45;2.45;2.45	5.76	-3.48	0.04739	.	.	.	.	.	T	0.08758	0.0217	N	0.21448	0.665	0.35022	D	0.757923	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.45673	-0.9245	9	0.10377	T	0.69	0.0053	10.4018	0.44233	0.0:0.3369:0.0975:0.5657	.	696;668;696	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	D	668;651;448;696	ENSP00000309266:E668D;ENSP00000310453:E651D;ENSP00000421985:E696D	ENSP00000310453:E651D	E	-	3	2	FNIP1	131035948	0.000000	0.05858	0.280000	0.24747	0.959000	0.62525	-1.401000	0.02502	-0.371000	0.08004	0.655000	0.94253	GAG		0.433	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		159	69	1	0	3.14662e-72	1	3.637e-72	159	69				
DEFB116	245930	broad.mit.edu	37	20	29891139	29891139	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr20:29891139G>T	ENST00000400549.1	-	2	184	c.185C>A	c.(184-186)cCa>cAa	p.P62Q		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	62					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.P62Q(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTGATCATTTGGGCAGGTTAA	0.423																																						ENST00000400549.1																			1	Substitution - Missense(1)	p.P62Q(1)	lung(1)	kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(184-186)cCa>cAa		defensin, beta 116							391.0	344.0	358.0					20																	29891139		1864	4096	5960	SO:0001583	missense	245930				defense response to bacterium	extracellular region		g.chr20:29891139G>T	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.185C>A	20.37:g.29891139G>T	ENSP00000383396:p.Pro62Gln						p.P62Q	NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	184	-	all_hematologic(12;0.158)		62						Missense_Mutation	SNP	ENST00000400549.1	37	c.185C>A	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703092	0.30232	.	.	ENSG00000215545	ENST00000400549	T	0.12039	2.72	3.43	-6.86	0.01676	.	.	.	.	.	T	0.06917	0.0176	L	0.27053	0.805	0.09310	N	1	B	0.25351	0.124	B	0.19391	0.025	T	0.31392	-0.9945	9	0.51188	T	0.08	-13.1619	3.5293	0.07770	0.5821:0.1174:0.1718:0.1287	.	62	Q30KQ4	DB116_HUMAN	Q	62	ENSP00000383396:P62Q	ENSP00000383396:P62Q	P	-	2	0	DEFB116	29354800	0.000000	0.05858	0.000000	0.03702	0.326000	0.28443	-1.585000	0.02112	-1.906000	0.01089	-0.150000	0.13652	CCA		0.423	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		133	278	1	0	2.8866e-50	1	3.29369e-50	133	278				
MYH15	22989	broad.mit.edu	37	3	108183634	108183634	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:108183634C>T	ENST00000273353.3	-	16	1698	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	548	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATACACTCTTCTTCAAGGATG	0.433																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1642-1644)Gaa>Aaa		myosin, heavy chain 15							103.0	95.0	97.0					3																	108183634		1871	4109	5980	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108183634C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1642G>A	3.37:g.108183634C>T	ENSP00000273353:p.Glu548Lys						p.E548K	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			16	1698	-			548			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1642G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266494	0.80358	.	.	ENSG00000144821	ENST00000273353	T	0.80653	-1.4	5.04	4.16	0.48862	Myosin head, motor domain (3);	.	.	.	.	D	0.94042	0.8091	H	0.99404	4.55	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.95563	0.8631	9	0.87932	D	0	.	13.1459	0.59461	0.0:0.9224:0.0:0.0776	.	548	Q9Y2K3	MYH15_HUMAN	K	548	ENSP00000273353:E548K	ENSP00000273353:E548K	E	-	1	0	MYH15	109666324	1.000000	0.71417	0.428000	0.26697	0.709000	0.40893	3.849000	0.55910	1.127000	0.42034	0.467000	0.42956	GAA		0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		79	43	0	0	0	1	0	79	43				
HERC2	8924	broad.mit.edu	37	15	28357065	28357065	+	Silent	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:28357065G>A	ENST00000261609.7	-	93	14457	c.14349C>T	c.(14347-14349)taC>taT	p.Y4783Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGGATGGCGTACTTGAGCT	0.552																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(14347-14349)taC>taT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							113.0	91.0	98.0					15																	28357065		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28357065G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14349C>T	15.37:g.28357065G>A							p.Y4783Y	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	93	14457	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4783			HECT.			Silent	SNP	ENST00000261609.7	37	c.14349C>T	CCDS10021.1																																																																																				0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		38	68	0	0	0	1	0	38	68				
HOXD9	3235	broad.mit.edu	37	2	176988776	176988776	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr2:176988776C>T	ENST00000249499.6	+	2	1341	c.932C>T	c.(931-933)aCc>aTc	p.T311I	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	311					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ATGTACCTCACCCGGGACCGG	0.507																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(931-933)aCc>aTc		homeobox D9							88.0	100.0	96.0					2																	176988776		2203	4300	6503	SO:0001583	missense	3235					nucleus	sequence-specific DNA binding	g.chr2:176988776C>T		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.932C>T	2.37:g.176988776C>T	ENSP00000249499:p.Thr311Ile					HOXD-AS2_ENST00000440016.2_RNA	p.T311I	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1341	+			311					Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	c.932C>T	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205217	0.79127	.	.	ENSG00000128709	ENST00000249499	D	0.96265	-3.96	5.7	5.7	0.88788	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98782	0.9590	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99564	1.0969	10	0.87932	D	0	.	18.4638	0.90748	0.0:1.0:0.0:0.0	.	311	P28356	HXD9_HUMAN	I	311	ENSP00000249499:T311I	ENSP00000249499:T311I	T	+	2	0	HOXD9	176697022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.694000	0.91930	0.650000	0.86243	ACC		0.507	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			78	96	0	0	0	1	0	78	96				
PPP1R26	9858	broad.mit.edu	37	9	138377224	138377224	+	Missense_Mutation	SNP	C	C	T	rs149000148	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr9:138377224C>T	ENST00000356818.2	+	4	1417	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	PPP1R26_ENST00000605660.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R290C|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	290					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GTTTGCCTTCCGCAAACCTCC	0.587																																						ENST00000356818.2																			0											c.(868-870)Cgc>Tgc		protein phosphatase 1, regulatory subunit 26		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	66.0	72.0	70.0		868	4.6	0.9	9	dbSNP_134	70	0,8600		0,0,4300	yes	missense	KIAA0649	NM_014811.3	180	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	probably-damaging	290/1210	138377224	6,13000	2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377224C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.868C>T	9.37:g.138377224C>T	ENSP00000349274:p.Arg290Cys					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R290C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R290C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R290C	p.R290C	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1417	+			290					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.868C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214052	0.39102	0.001362	0.0	ENSG00000196422	ENST00000356818	T	0.13778	2.56	5.61	4.63	0.57726	.	0.825537	0.10510	N	0.666276	T	0.32071	0.0817	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.12578	-1.0542	10	0.87932	D	0	-11.6976	8.3072	0.32049	0.1998:0.7131:0.0:0.0871	.	290	Q5T8A7	PPR26_HUMAN	C	290	ENSP00000349274:R290C	ENSP00000349274:R290C	R	+	1	0	KIAA0649	137517045	0.996000	0.38824	0.884000	0.34674	0.011000	0.07611	2.058000	0.41374	2.626000	0.88956	0.655000	0.94253	CGC		0.587	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		88	109	0	0	0	1	0	88	109				
TIMP1	7076	broad.mit.edu	37	X	47445926	47445926	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:47445926C>T	ENST00000218388.4	+	6	630	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	MIR4769_ENST00000584126.1_RNA|TIMP1_ENST00000377017.1_Missense_Mutation_p.P90S|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	154					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						CCAGGTGTTTCCCTGTTTATC	0.572																																						ENST00000218388.4																			0				endometrium(1)|large_intestine(2)	3						c.(460-462)Ccc>Tcc		TIMP metallopeptidase inhibitor 1							138.0	106.0	116.0					X																	47445926		2203	4300	6503	SO:0001583	missense	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47445926C>T		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.460C>T	X.37:g.47445926C>T	ENSP00000218388:p.Pro154Ser					SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Missense_Mutation_p.P90S|SYN1_ENST00000340666.4_Intron	p.P154S	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN			6	630	+			154					Q14252|Q9UCU1	Missense_Mutation	SNP	ENST00000218388.4	37	c.460C>T	CCDS14281.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623192	0.28889	.	.	ENSG00000102265	ENST00000218388;ENST00000377017	D;D	0.93019	-3.15;-3.15	5.35	2.57	0.30868	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.442331	0.21488	N	0.073730	D	0.88829	0.6543	L	0.60067	1.865	0.80722	D	1	P	0.41313	0.745	B	0.41202	0.35	T	0.80460	-0.1373	10	0.17369	T	0.5	.	3.3198	0.07047	0.1688:0.5519:0.1818:0.0975	.	154	P01033	TIMP1_HUMAN	S	154;90	ENSP00000218388:P154S;ENSP00000366216:P90S	ENSP00000218388:P154S	P	+	1	0	TIMP1	47330870	0.879000	0.30193	0.996000	0.52242	0.966000	0.64601	-0.102000	0.10956	0.110000	0.17919	0.523000	0.50628	CCC		0.572	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		36	9	0	0	0	1	0	36	9				
PSMA3	5684	broad.mit.edu	37	14	58714471	58714471	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:58714471G>A	ENST00000216455.4	+	2	115	c.25G>A	c.(25-27)Gac>Aac	p.D9N	PSMA3_ENST00000557508.1_Intron|PSMA3_ENST00000412908.2_Missense_Mutation_p.D9N	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCTTAAGTATGACCTGTCAGC	0.403																																						ENST00000216455.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						c.(25-27)Gac>Aac		proteasome (prosome, macropain) subunit, alpha type, 3							112.0	105.0	108.0					14																	58714471		2203	4300	6503	SO:0001583	missense	5684				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr14:58714471G>A		CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.25G>A	14.37:g.58714471G>A	ENSP00000216455:p.Asp9Asn					PSMA3_ENST00000412908.2_Missense_Mutation_p.D9N|PSMA3_ENST00000557508.1_Intron	p.D9N	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN			2	115	+			9					B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	c.25G>A	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490612	0.96339	.	.	ENSG00000100567	ENST00000216455;ENST00000412908	T;T	0.67171	-0.25;-0.23	5.95	5.95	0.96441	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	D	0.88658	0.6496	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91206	0.4995	10	0.87932	D	0	-32.5851	20.3931	0.98965	0.0:0.0:1.0:0.0	.	9;9	P25788-2;P25788	.;PSA3_HUMAN	N	9	ENSP00000216455:D9N;ENSP00000390491:D9N	ENSP00000216455:D9N	D	+	1	0	PSMA3	57784224	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.410000	0.97335	2.824000	0.97209	0.655000	0.94253	GAC		0.403	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788		43	77	0	0	0	1	0	43	77				
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		8	172						8	172	---	---	---	---
CTD-2296D1.4	0	broad.mit.edu	37	5	7372948	7372950	+	RNA	DEL	ACC	ACC	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:7372948_7372950delACC	ENST00000513219.1	-	0	202				CTD-2296D1.5_ENST00000500616.2_lincRNA																							taccatcattaccaccaccacca	0.507																																						ENST00000513219.1																			0																																																			0							g.chr5:7372948_7372950delACC																													5.37:g.7372957_7372959delACC														0	202	-									RNA	DEL	ENST00000513219.1	37																																																																																						0.507	CTD-2296D1.4-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000366353.1			3	4						3	4	---	---	---	---
GPRIN1	114787	broad.mit.edu	37	5	176026120	176026143	+	In_Frame_Del	DEL	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	-	rs3797464|rs200519605|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs199714570|rs373697082|rs201635586	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENST00000303991.4	-	2	870_893	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	c.(691-717)aggaaggaggatcctgggtctttgaga>aga	p.231_239RKEDPGSLR>R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA	0.491																																						ENST00000303991.4																			1	Substitution - coding silent(1)	p.L238L(1)	lung(1)	NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(691-717)aga>ag		G protein regulated inducer of neurite outgrowth 1				863,3329		131,601,1364						1.0	0.0		dbSNP_134	123	1529,6607		196,1137,2735	no	coding	GPRIN1	NM_052899.2		327,1738,4099	A1A1,A1R,RR		18.793,20.5868,19.403				2392,9936				SO:0001651	inframe_deletion	114787					growth cone|plasma membrane		g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	5.37:g.176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENSP00000305839:p.Arg231_Leu238del						p.RKEDPGSLR231del	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	870_893	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	231	Missing (in Ref. 4; CAD38868).				C9JM70|Q8ND74|Q96PZ4	In_Frame_Del	DEL	ENST00000303991.4	37	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	CCDS4405.1																																																																																				0.491	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		69	106						69	106	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29970905	29970906	+	RNA	INS	-	-	G	rs529997338|rs74867260	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr6:29970905_29970906insG	ENST00000376797.3	-	0	1548				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		gctgaggccctcttcccatggg	0.545													G|-|G|deletion	2555	0.510184	0.4917	0.4741	5008	,	,		21703	0.496		0.4672	False		,,,				2504	0.6196					ENST00000376797.3																			0																																																			80862							g.chr6:29970905_29970906insG	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29970905_29970906insG						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	1548	-									RNA	INS	ENST00000376797.3	37																																																																																						0.545	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		6	2						6	2	---	---	---	---
TRBV7-6	28592	broad.mit.edu	37	7	142139663	142139666	+	RNA	DEL	CGCC	CGCC	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr7:142139663_142139666delCGCC	ENST00000390374.3	-	0	94									T cell receptor beta variable 7-6																		cacacacacacgcccacacgccta	0.475																																						ENST00000390374.3																			0																																																			28592							g.chr7:142139663_142139666delCGCC	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139663_142139666delCGCC														0	94	-									RNA	DEL	ENST00000390374.3	37																																																																																						0.475	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		8	102						8	102	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		3	4						3	4	---	---	---	---
NOC4L	79050	broad.mit.edu	37	12	132629117	132629118	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr12:132629117_132629118insA	ENST00000330579.1	+	1	125_126	c.84_85insA	c.(85-87)aacfs	p.N29fs	DDX51_ENST00000397333.3_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	29					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCAGTGAGGCCAACGCCGTGTT	0.762																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(82-87)gcacgcfs		nucleolar complex associated 4 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132629117_132629118insA		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.86dupA	12.37:g.132629119_132629119dupA	ENSP00000328854:p.Asn29fs						p.R29fs	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	1	125_126	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		29					Q8N2S5|Q96I14	Frame_Shift_Ins	INS	ENST00000330579.1	37	c.84_85insA	CCDS9277.1																																																																																				0.762	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		2	4						2	4	---	---	---	---
TMEM255B	348013	broad.mit.edu	37	13	114503876	114503957	+	Splice_Site	DEL	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	-	rs9577890|rs76163514|rs111667140|rs41284484|rs41284485|rs144347748|rs9577889|rs79620376|rs114746443|rs41284483|rs66696122|rs371072437|rs553476183|rs148763547|rs371342802|rs115620789|rs550352190|rs575880631|rs386775130|rs372249488	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr13:114503876_114503957delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	ENST00000375353.3	+	6	527_536	c.500_509delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	c.(499-510)gcctgcgggagg>gg	p.ACGR167fs		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	167						integral component of membrane (GO:0016021)											GACCTCTATGCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACACCTGCGGGAG	0.652																																						ENST00000375353.3																			0											c.e6+1		transmembrane protein 255B				409,860,2993		20,66,303,99,596,1047						-3.0	0.0		dbSNP_130	62	1222,24,7006		90,3,1039,0,21,2973	no	codingComplex	FAM70B	NM_182614.2		110,69,1342,99,617,4020	A1A1,A1A2,A1R,A2A2,A2R,RR		15.0994,29.7748,20.0975				1631,884,9999				SO:0001630	splice_region_variant	348013							g.chr13:114503876_114503957delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.509+1CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA>-	13.37:g.114503876_114503957delCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA							p.167_splice	NM_182614.2	NP_872420.1					6	527_536	+									Splice_Site	DEL	ENST00000375353.3	37	c.509_splice	CCDS45071.1																																																																																				0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614	Frame_Shift_Del	9	27						9	27	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974154	44974155	+	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	rs71108655|rs375198387|rs3840828	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	ENST00000340446.4	-	1	2327_2328	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	c.(2035-2037)cct>ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	p.679_679P>PSEVQPPPAEEAP	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	679	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAACTTCAGCAGGGGCCTCCTC	0.604																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc		fibrous sheath CABYR binding protein				1640,2526		400,840,843						-1.0	0.0		dbSNP_107	31	3827,4381		924,1979,1201	no	coding	FSCB	NM_032135.3		1324,2819,2044	A1A1,A1R,RR		46.6252,39.3663,44.1813				5467,6907				SO:0001652	inframe_insertion	84075					cilium		g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	14.37:g.44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	Exception_encountered						p.678_679insPLKFSLHQLRRP	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2327_2328	-			678			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	In_Frame_Ins	INS	ENST00000340446.4	37	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	CCDS9679.1																																																																																				0.604	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		13	32						13	32	---	---	---	---
PRIMA1	145270	broad.mit.edu	37	14	94187794	94187811	+	In_Frame_Del	DEL	ACCACTGCGTTGTTCACG	ACCACTGCGTTGTTCACG	-	rs200782279|rs140016687		TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr14:94187794_94187811delACCACTGCGTTGTTCACG	ENST00000393140.1	-	5	543_560	c.441_458delCGTGAACAACGCAGTGGT	c.(439-459)gacgtgaacaacgcagtggtg>gag	p.147_153DVNNAVV>E	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_In_Frame_Del_p.147_153DVNNAVV>E	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	147					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCAGACTCACACCACTGCGTTGTTCACGTCTACTCCTT	0.573																																						ENST00000393140.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(439-459)gag>ga		proline rich membrane anchor 1																																				SO:0001651	inframe_deletion	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187794_94187811delACCACTGCGTTGTTCACG		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.441_458delCGTGAACAACGCAGTGGT	14.37:g.94187794_94187811delACCACTGCGTTGTTCACG	ENSP00000376848:p.Asp147_Val153delinsGlu					PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_In_Frame_Del_p.DVNNAVV147del	p.DVNNAVV147del	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	543_560	-		all_cancers(154;0.127)	147					Q86XR6	In_Frame_Del	DEL	ENST00000393140.1	37	c.441_458delCGTGAACAACGCAGTGGT	CCDS9912.1																																																																																				0.573	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		25	46						25	46	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78215586	78215587	+	lincRNA	INS	-	-	T	rs371932549	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr15:78215586_78215587insT	ENST00000565869.1	+	0	706				RP11-114H24.2_ENST00000567226.1_RNA																							AAAATGAGAAATTTAAAAAAAA	0.441													tt|TTT|TTTT|cryptic_indel	51	0.0101837	0.0333	0.0029	5008	,	,		18873	0.001		0.001	False		,,,				2504	0.0031					ENST00000567226.1																			0																																																			645752							g.chr15:78215586_78215587insT																													15.37:g.78215589_78215589dupT														0	225	-									RNA	INS	ENST00000565869.1	37																																																																																						0.441	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			2	4						2	4	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90095597	90095598	+	Intron	INS	-	-	GGGGCAGCCTACGGGGCAGGCTGC	rs61118444|rs141303781|rs71137702	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr16:90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_In_Frame_Ins_p.50_51insPAACPVGC|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctatggggcagccta	0.663																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(151-156)cctagc>ccGCAGCCTGCCCCGTAGGCTGCCCCtagc		chromosome 16 open reading frame 3																																				SO:0001627	intron_variant	750							g.chr16:90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1467->GGGGCAGCCTACGGGGCAGGCTGC	16.37:g.90095597_90095598insGGGGCAGCCTACGGGGCAGGCTGC						GAS8_ENST00000540721.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000536122.1_Intron	p.50_51insPQPAP*AA	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	711_712	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	50		Missing (in short isoform).			B2RCT1|B7Z4U1|G3V1L5|Q2M234	In_Frame_Ins	INS	ENST00000268699.4	37	c.153_154insGCAGCCTGCCCCGTAGGCTGCCCC	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			16	29						16	29	---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42931928	42931930	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr17:42931928_42931930delGAG	ENST00000426333.2	-	22	2550_2552	c.2253_2255delCTC	c.(2251-2256)ccctct>cct	p.S752del	EFTUD2_ENST00000591382.1_In_Frame_Del_p.S752del|EFTUD2_ENST00000402521.3_In_Frame_Del_p.S717del|EFTUD2_ENST00000592576.1_In_Frame_Del_p.S742del	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	752					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTGTACCTCAGAGGGCAGAGTAT	0.522																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2251-2256)cct>cc		elongation factor Tu GTP binding domain containing 2																																				SO:0001651	inframe_deletion	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42931928_42931930delGAG	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2253_2255delCTC	17.37:g.42931928_42931930delGAG	ENSP00000392094:p.Ser752del					EFTUD2_ENST00000402521.3_In_Frame_Del_p.PS716del|EFTUD2_ENST00000592576.1_In_Frame_Del_p.PS741del|EFTUD2_ENST00000591382.1_In_Frame_Del_p.PS751del	p.PS751del	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			22	2550_2552	-		Prostate(33;0.109)	751					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	In_Frame_Del	DEL	ENST00000426333.2	37	c.2253_2255delCTC	CCDS11489.1																																																																																				0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		52	115						52	115	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			2	4						2	4	---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5693347	5693349	+	IGR	DEL	TCT	TCT	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:5693347_5693349delTCT	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_In_Frame_Del_p.K824del|LONP1_ENST00000590729.1_In_Frame_Del_p.K758del|LONP1_ENST00000540670.2_In_Frame_Del_p.K692del|LONP1_ENST00000585374.1_In_Frame_Del_p.K774del|LONP1_ENST00000360614.3_In_Frame_Del_p.K888del			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						ACAGGCAGGATCTTGCCCGTGAG	0.65																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2662-2667)atc>a		lon peptidase 1, mitochondrial																																				SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5693347_5693349delTCT		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693347_5693349delTCT						LONP1_ENST00000590729.1_In_Frame_Del_p.KI758del|LONP1_ENST00000540670.2_In_Frame_Del_p.KI692del|LONP1_ENST00000585374.1_In_Frame_Del_p.KI774del|LONP1_ENST00000593119.1_In_Frame_Del_p.KI824del	p.KI888del	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			17	2820_2822	-			888					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	In_Frame_Del	DEL	ENST00000577222.1	37	c.2663_2665delAGA	CCDS12147.1																																																																																				0.650	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		28	61						28	61	---	---	---	---
ZNF444	55311	broad.mit.edu	37	19	56671273	56671281	+	In_Frame_Del	DEL	CCCCGGCAG	CCCCGGCAG	-	rs371421706|rs60359254	byFrequency	TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr19:56671273_56671281delCCCCGGCAG	ENST00000337080.3	+	5	1054_1062	c.687_695delCCCCGGCAG	c.(685-696)caccccggcagc>cac	p.PGS233del	ZNF444_ENST00000592949.1_In_Frame_Del_p.PGS232del|ZNF444_ENST00000592171.1_3'UTR	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	233					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GCGACACGCACCCCGGCAGCCCCGGCAGC	0.746														97	0.019369	0.028	0.013	5008	,	,		9074	0.0129		0.0328	False		,,,				2504	0.0051					ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(685-696)cac>ca		zinc finger protein 444				57,1581		23,11,785						3.3	1.0		dbSNP_129	2	164,3494		53,58,1718	no	coding	ZNF444	NM_018337.2		76,69,2503	A1A1,A1R,RR		4.4833,3.4799,4.173				221,5075				SO:0001651	inframe_deletion	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56671273_56671281delCCCCGGCAG	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.687_695delCCCCGGCAG	19.37:g.56671282_56671290delCCCCGGCAG	ENSP00000338860:p.Pro233_Ser235del					ZNF444_ENST00000592949.1_In_Frame_Del_p.HPGS228del|ZNF444_ENST00000592171.1_3'UTR	p.HPGS229del	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	5	1054_1062	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	229					Q8TEQ9|Q8WU35|Q9NUU1	In_Frame_Del	DEL	ENST00000337080.3	37	c.687_695delCCCCGGCAG	CCDS12939.1																																																																																				0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		4	4						4	4	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			388815							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			7	252						7	252	---	---	---	---
BTK	695	broad.mit.edu	37	X	100611872	100611873	+	Frame_Shift_Ins	INS	-	-	CACTA			TCGA-UF-A7JC-01A-21D-A34J-08	TCGA-UF-A7JC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2820f3ac-cef4-4c55-b7ba-be73748ae4d0	c04921c6-79f9-494f-bd2c-ecf08573ee4b	g.chrX:100611872_100611873insCACTA	ENST00000308731.7	-	14	1411_1412	c.1248_1249insTAGTG	c.(1246-1251)gtgaagfs	p.K417fs	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	417	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCCCATACTTCACTACCCCAA	0.441									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1246-1251)gtagtafs		Bruton agammaglobulinemia tyrosine kinase																																				SO:0001589	frameshift_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611872_100611873insCACTA	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1244_1248dupTAGTG	X.37:g.100611873_100611877dupCACTA	ENSP00000308176:p.Lys417fs					BTK_ENST00000372880.1_Intron	p.V417fs	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			14	1411_1412	-			417			Protein kinase.		B2RAW1|Q32ML5	Frame_Shift_Ins	INS	ENST00000308731.7	37	c.1248_1249insTAGTG	CCDS14482.1																																																																																				0.441	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		157	112						157	112	---	---	---	---
