#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
GLRB	2743	broad.mit.edu	37	4	158065014	158065014	+	Silent	SNP	C	C	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr4:158065014C>T	ENST00000264428.4	+	8	1077	c.807C>T	c.(805-807)taC>taT	p.Y269Y	GLRB_ENST00000509282.1_Silent_p.Y269Y|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.Y269Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	269					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TCGGCTTTTACATGATGGGGG	0.537																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(805-807)taC>taT		glycine receptor, beta	Glycine(DB00145)						177.0	134.0	148.0					4																	158065014		2203	4300	6503	SO:0001819	synonymous_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158065014C>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.807C>T	4.37:g.158065014C>T						GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.Y269Y|GLRB_ENST00000509282.1_Silent_p.Y269Y	p.Y269Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	8	1077	+	all_hematologic(180;0.24)	Renal(120;0.0458)	269					A8K3K2|D3DP23|F5GWE1	Silent	SNP	ENST00000264428.4	37	c.807C>T	CCDS3796.1																																																																																				0.537	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		16	37	0	0	0	1	0	16	37				
ERI3	79033	broad.mit.edu	37	1	44804819	44804819	+	Silent	SNP	G	G	A			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr1:44804819G>A	ENST00000372257.2	-	3	568	c.387C>T	c.(385-387)ggC>ggT	p.G129G	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	129							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCATGGATGCGCCAAAGCCGT	0.547																																						ENST00000372257.2																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(385-387)ggC>ggT		ERI1 exoribonuclease family member 3							131.0	140.0	137.0					1																	44804819		2203	4300	6503	SO:0001819	synonymous_variant	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44804819G>A	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.387C>T	1.37:g.44804819G>A						ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	p.G129G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN			3	568	-			129					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	37	c.387C>T	CCDS30696.1																																																																																				0.547	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		5	245	0	0	0	1	0	5	245				
LINC00957	255031	broad.mit.edu	37	7	44080541	44080541	+	lincRNA	SNP	G	G	A	rs3099751		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr7:44080541G>A	ENST00000441052.1	+	0	1226				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		CTGCCGCTGCGCCCCGCACCC	0.617																																						ENST00000441052.1																			0																																																			0							g.chr7:44080541G>A	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080541G>A														0	1226	+									RNA	SNP	ENST00000441052.1	37																																																																																						0.617	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			11	57	0	0	0	1	0	11	57				
GTPBP4	23560	broad.mit.edu	37	10	1046705	1046705	+	Missense_Mutation	SNP	G	G	T	rs150247999		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr10:1046705G>T	ENST00000360803.4	+	7	825	c.743G>T	c.(742-744)cGt>cTt	p.R248L	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R201L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R132L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	248	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GCCCACCTCCGTGCTGCGGTC	0.557																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(742-744)cGt>cTt		GTP binding protein 4							180.0	151.0	161.0					10																	1046705		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046705G>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.743G>T	10.37:g.1046705G>T	ENSP00000354040:p.Arg248Leu					GTPBP4_ENST00000538293.1_Missense_Mutation_p.R132L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R201L	p.R248L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	7	825	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	248					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.743G>T	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928681	0.92389	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.35789	2.44;1.29;2.44	6.07	6.07	0.98685	Nucleolar GTP-binding 1 (1);Small GTP-binding protein domain (1);	0.055619	0.85682	D	0.000000	T	0.75265	0.3826	H	0.97240	3.965	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.83505	0.0077	10	0.87932	D	0	-7.3434	18.8398	0.92177	0.0:0.0:1.0:0.0	.	248	Q9BZE4	NOG1_HUMAN	L	248;132;201	ENSP00000354040:R248L;ENSP00000444277:R132L;ENSP00000445473:R201L	ENSP00000354040:R248L	R	+	2	0	GTPBP4	1036705	1.000000	0.71417	0.900000	0.35374	0.553000	0.35397	9.428000	0.97476	2.885000	0.99019	0.655000	0.94253	CGT		0.557	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		10	70	1	0	7.48243e-07	1	9.47774e-07	10	70				
MMD	23531	broad.mit.edu	37	17	53471782	53471782	+	Silent	SNP	C	C	A			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr17:53471782C>A	ENST00000262065.3	-	7	926	c.630G>T	c.(628-630)ctG>ctT	p.L210L		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	210					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TGGCCACAAACAGGTGCCAGA	0.478																																						ENST00000262065.3																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(628-630)ctG>ctT		monocyte to macrophage differentiation-associated							113.0	105.0	108.0					17																	53471782		2203	4300	6503	SO:0001819	synonymous_variant	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53471782C>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.630G>T	17.37:g.53471782C>A							p.L210L	NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN			7	926	-			210					B2R6X9|D3DTY6|Q8TAN7	Silent	SNP	ENST00000262065.3	37	c.630G>T	CCDS11586.1																																																																																				0.478	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			4	148	1	0	1	1	1	4	148				
MARK3	4140	broad.mit.edu	37	14	103958164	103958164	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:103958164G>T	ENST00000429436.2	+	15	2147	c.1637G>T	c.(1636-1638)aGt>aTt	p.S546I	MARK3_ENST00000440884.3_Missense_Mutation_p.S467I|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.S569I|MARK3_ENST00000553942.1_Missense_Mutation_p.S546I|MARK3_ENST00000303622.9_Missense_Mutation_p.S546I|MARK3_ENST00000335102.5_Missense_Mutation_p.S569I|MARK3_ENST00000216288.7_Missense_Mutation_p.S530I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	546						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTATCAGTAGTGCAGCCACC	0.488																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1636-1638)aGt>aTt		MAP/microtubule affinity-regulating kinase 3							76.0	75.0	75.0					14																	103958164		2015	4181	6196	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103958164G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1637G>T	14.37:g.103958164G>T	ENSP00000411397:p.Ser546Ile					MARK3_ENST00000553942.1_Missense_Mutation_p.S546I|MARK3_ENST00000440884.3_Missense_Mutation_p.S467I|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.S569I|MARK3_ENST00000335102.5_Missense_Mutation_p.S569I|MARK3_ENST00000303622.9_Missense_Mutation_p.S546I|MARK3_ENST00000216288.7_Missense_Mutation_p.S530I	p.S546I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		15	2147	+		Melanoma(154;0.155)	546					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1637G>T	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.06|15.06	2.721137|2.721137	0.48728|0.48728	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.037303|.	0.85682|.	D|.	0.000000|.	T|T	0.73071|0.73071	0.3540|0.3540	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	B;B;P;B;B;P;B;B|.	0.44877|.	0.033;0.386;0.812;0.018;0.01;0.845;0.018;0.018|.	B;B;P;B;B;B;B;B|.	0.45449|.	0.034;0.175;0.481;0.049;0.022;0.298;0.033;0.022|.	T|T	0.67233|0.67233	-0.5722|-0.5722	10|5	0.54805|.	T|.	0.06|.	.|.	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	553;133;569;530;546;467;546;546|.	P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;MARK3_HUMAN;.;.;.|.	I|L	569;247;467;569;546;546;530;546;133|298	ENSP00000335347:S569I;ENSP00000402104:S467I;ENSP00000408092:S569I;ENSP00000411397:S546I;ENSP00000303698:S546I;ENSP00000216288:S530I;ENSP00000450772:S546I;ENSP00000451623:S133I|.	ENSP00000216288:S546I|.	S|V	+|+	2|1	0|0	MARK3|MARK3	103027917|103027917	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.932000|0.932000	0.56968|0.56968	3.735000|3.735000	0.55044|0.55044	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.488	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		22	58	1	0	4.54149e-19	1	6.16344e-19	22	58				
PRDM7	11105	broad.mit.edu	37	16	90126908	90126908	+	Silent	SNP	C	C	G			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr16:90126908C>G	ENST00000449207.2	-	9	1093	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	358	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		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;0.0278)		CATACTCATCCCCAGACCAGA	0.532																																						ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1072-1074)ggG>ggC		PR domain containing 7							99.0	97.0	98.0					16																	90126908		1945	4145	6090	SO:0001819	synonymous_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126908C>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1074G>C	16.37:g.90126908C>G						PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	p.G358G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1093	-		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)	358			SET.		A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	37	c.1074G>C	CCDS45557.1																																																																																				0.532	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			15	61	0	0	0	1	0	15	61				
SLIT3	6586	broad.mit.edu	37	5	168096871	168096871	+	Missense_Mutation	SNP	T	T	C			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr5:168096871T>C	ENST00000519560.1	-	35	4672	c.4253A>G	c.(4252-4254)cAc>cGc	p.H1418R	SLIT3_ENST00000404867.3_Missense_Mutation_p.H1418R|CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.H1425R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1418	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCCCATGGTGACACTTGAA	0.577																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4252-4254)cAc>cGc		slit homolog 3 (Drosophila)							142.0	104.0	117.0					5																	168096871		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168096871T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4253A>G	5.37:g.168096871T>C	ENSP00000430333:p.His1418Arg					SLIT3_ENST00000332966.8_Missense_Mutation_p.H1425R|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1418R	p.H1418R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	4672	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1418			EGF-like 9.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4253A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	8.582	0.882583	0.17467	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.74947	-0.85;-0.87;-0.89	5.13	2.64	0.31445	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.686177	0.15393	N	0.264727	T	0.57242	0.2040	L	0.29908	0.895	0.25462	N	0.987905	B	0.16802	0.019	B	0.23275	0.045	T	0.39860	-0.9593	10	0.18710	T	0.47	.	5.0357	0.14432	0.1305:0.2029:0.0:0.6666	.	1418	O75094	SLIT3_HUMAN	R	1418;1425;1418	ENSP00000430333:H1418R;ENSP00000332164:H1425R;ENSP00000384890:H1418R	ENSP00000332164:H1425R	H	-	2	0	SLIT3	168029449	0.917000	0.31117	0.989000	0.46669	0.996000	0.88848	0.429000	0.21412	0.247000	0.21414	0.459000	0.35465	CAC		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	33	0	0	0	1	0	10	33				
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr1:169510502G>T	ENST00000367797.3	-	13	4027	c.3826C>A	c.(3826-3828)Ctt>Att	p.L1276I	F5_ENST00000367796.3_Missense_Mutation_p.L1281I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3841-3843)Ctt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						219.0	233.0	228.0					1																	169510502		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510502G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3826C>A	1.37:g.169510502G>T	ENSP00000356771:p.Leu1276Ile					F5_ENST00000367797.3_Missense_Mutation_p.L1276I	p.L1281I			P12259	FA5_HUMAN			13	4042	-	all_hematologic(923;0.208)		1276			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3841C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987829	0.35036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36520	1.25;1.25	4.13	-2.91	0.05631	.	.	.	.	.	T	0.13798	0.0334	M	0.62723	1.935	0.09310	N	0.999999	P	0.37061	0.58	B	0.35114	0.196	T	0.16778	-1.0391	8	0.22706	T	0.39	-2.9938	9.7911	0.40706	0.642:0.0:0.358:0.0	.	1276	P12259	FA5_HUMAN	I	1276;1281	ENSP00000356771:L1276I;ENSP00000356770:L1281I	ENSP00000356770:L1281I	L	-	1	0	F5	167777126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.412000	0.07519	-0.364000	0.07487	CTT		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	366	1	0	2.0095e-06	1	2.38628e-06	7	366				
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	159	0	0	0	1	0	4	159				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	43	0	0	0	1	0	3	43				
GH2	2689	broad.mit.edu	37	17	61959155	61959155	+	Missense_Mutation	SNP	C	C	T	rs148779841		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr17:61959155C>T	ENST00000423893.2	-	1	68	c.7G>A	c.(7-9)Gca>Aca	p.A3T	GH2_ENST00000449787.2_Missense_Mutation_p.A3T|GH2_ENST00000456543.2_Missense_Mutation_p.A3T|GH2_ENST00000332800.7_Missense_Mutation_p.A3T			P01242	SOM2_HUMAN	growth hormone 2	3					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.A3T(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CGCTTACCTGCAGCCATTGCC	0.597																																						ENST00000332800.7																			2	Substitution - Missense(2)	p.A3T(2)	lung(2)	breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(7-9)Gca>Aca		growth hormone 2							77.0	77.0	77.0					17																	61959155		2203	4298	6501	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61959155C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.7G>A	17.37:g.61959155C>T	ENSP00000409294:p.Ala3Thr					GH2_ENST00000456543.2_Missense_Mutation_p.A3T|GH2_ENST00000449787.2_Missense_Mutation_p.A3T|GH2_ENST00000423893.2_Missense_Mutation_p.A3T	p.A3T	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			1	140	-			3					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.7G>A	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.437770	0.43326	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.87966	-2.27;-2.32;-2.29;-2.27	2.81	0.324	0.15898	.	2.162650	0.02469	N	0.087359	D	0.84419	0.5468	M	0.61703	1.905	0.19775	N	0.999958	B;B;B;B;B	0.24317	0.001;0.0;0.005;0.101;0.001	B;B;B;B;B	0.23574	0.004;0.002;0.007;0.047;0.004	T	0.65520	-0.6148	10	0.48119	T	0.1	.	3.8655	0.09015	0.0:0.5946:0.2501:0.1553	.	3;3;3;3;3	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	T	3	ENSP00000333157:A3T;ENSP00000394122:A3T;ENSP00000409294:A3T;ENSP00000410618:A3T	ENSP00000333157:A3T	A	-	1	0	GH2	59312887	0.465000	0.25815	0.996000	0.52242	0.174000	0.22865	-0.755000	0.04782	0.463000	0.27118	0.313000	0.20887	GCA		0.597	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		4	59	0	0	0	1	0	4	59				
TNFAIP2	7127	broad.mit.edu	37	14	103596143	103596143	+	Silent	SNP	C	C	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:103596143C>T	ENST00000560869.1	+	4	1566	c.927C>T	c.(925-927)ccC>ccT	p.P309P	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Silent_p.P309P|TNFAIP2_ENST00000538222.1_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	309					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GCCTCCTGCCCCCCAGGCAGA	0.652																																						ENST00000560869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(925-927)ccC>ccT		tumor necrosis factor, alpha-induced protein 2							40.0	44.0	42.0					14																	103596143		2203	4300	6503	SO:0001819	synonymous_variant	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103596143C>T		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.927C>T	14.37:g.103596143C>T						TNFAIP2_ENST00000333007.1_Silent_p.P309P|TNFAIP2_ENST00000451723.2_Intron	p.P309P			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		4	1566	+		Melanoma(154;0.155)	309					Q86VI0	Silent	SNP	ENST00000560869.1	37	c.927C>T	CCDS9979.1																																																																																				0.652	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		18	33	0	0	0	1	0	18	33				
GP2	2813	broad.mit.edu	37	16	20327340	20327340	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr16:20327340C>T	ENST00000381362.4	-	10	1524	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	GP2_ENST00000302555.5_Missense_Mutation_p.R480H|GP2_ENST00000381360.5_Missense_Mutation_p.R336H|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Missense_Mutation_p.R333H	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	483	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TACTTCACTGCGGACTTGACT	0.488																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1438-1440)cGc>cAc		glycoprotein 2 (zymogen granule membrane)							115.0	107.0	110.0					16																	20327340		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327340C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1448G>A	16.37:g.20327340C>T	ENSP00000370767:p.Arg483His					GP2_ENST00000381360.5_Missense_Mutation_p.R336H|GP2_ENST00000381362.4_Missense_Mutation_p.R483H|GP2_ENST00000341642.5_Missense_Mutation_p.R333H	p.R480H			P55259	GP2_HUMAN			9	1588	-			483			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1439G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267858	0.80469	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.93604	-3.24;-3.25;-2.04;-2.08	5.25	2.2	0.27929	Zona pellucida sperm-binding protein (1);	.	.	.	.	D	0.93350	0.7880	M	0.72894	2.215	0.09310	N	1	P;D;D;B	0.63046	0.851;0.982;0.992;0.39	B;P;P;B	0.53861	0.349;0.585;0.736;0.082	D	0.85476	0.1176	9	0.56958	D	0.05	-5.5102	4.2793	0.10824	0.1816:0.6299:0.0:0.1885	.	333;461;480;483	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	H	480;483;336;333;461	ENSP00000304044:R480H;ENSP00000370767:R483H;ENSP00000370765:R336H;ENSP00000343861:R333H	ENSP00000304044:R480H	R	-	2	0	GP2	20234841	0.002000	0.14202	0.009000	0.14445	0.958000	0.62258	0.434000	0.21494	0.576000	0.29452	0.655000	0.94253	CGC		0.488	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		4	72	0	0	0	1	0	4	72				
AHNAK2	113146	broad.mit.edu	37	14	105418145	105418145	+	Missense_Mutation	SNP	G	G	A	rs375277628	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:105418145G>A	ENST00000333244.5	-	7	3762	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1215						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.647													.|||	6	0.00119808	0.0	0.0	5008	,	,		15037	0.0		0.001	False		,,,				2504	0.0051					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3643-3645)Ccc>Tcc		AHNAK nucleoprotein 2		G	SER/PRO	2,3852		0,2,1925	96.0	70.0	79.0		3643	1.6	0.0	14		79	3,7607		0,3,3802	no	missense	AHNAK2	NM_138420.2	74	0,5,5727	AA,AG,GG		0.0394,0.0519,0.0436	benign	1215/5796	105418145	5,11459	1927	3805	5732	SO:0001583	missense	113146					nucleus		g.chr14:105418145G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3643C>T	14.37:g.105418145G>A	ENSP00000353114:p.Pro1215Ser					AHNAK2_ENST00000557457.1_Intron	p.P1215S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1215					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3643C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.389	1.074896	0.20227	5.19E-4	3.94E-4	ENSG00000185567	ENST00000333244	T	0.00840	5.63	4.55	1.58	0.23477	.	.	.	.	.	T	0.00695	0.0023	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	9	0.08837	T	0.75	.	5.6981	0.17867	0.0766:0.3467:0.4538:0.1229	.	1215	Q8IVF2	AHNK2_HUMAN	S	1215	ENSP00000353114:P1215S	ENSP00000353114:P1215S	P	-	1	0	AHNAK2	104489190	.	.	0.009000	0.14445	0.004000	0.04260	.	.	0.383000	0.24910	-1.447000	0.01057	CCC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	3	0	0	0	1	0	3	3				
BPTF	2186	broad.mit.edu	37	17	65888050	65888050	+	Missense_Mutation	SNP	C	C	A			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr17:65888050C>A	ENST00000321892.4	+	7	2394	c.2333C>A	c.(2332-2334)aCc>aAc	p.T778N	BPTF_ENST00000306378.6_Missense_Mutation_p.T652N|BPTF_ENST00000335221.5_Missense_Mutation_p.T778N|BPTF_ENST00000424123.3_Missense_Mutation_p.T639N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	778					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGAATCATCACCAGATTGCGG	0.473																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2332-2334)aCc>aAc		bromodomain PHD finger transcription factor							67.0	63.0	64.0					17																	65888050		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65888050C>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2333C>A	17.37:g.65888050C>A	ENSP00000315454:p.Thr778Asn					BPTF_ENST00000424123.3_Missense_Mutation_p.T639N|BPTF_ENST00000335221.5_Missense_Mutation_p.T778N|BPTF_ENST00000306378.6_Missense_Mutation_p.T652N	p.T778N			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	2394	+	all_cancers(12;6e-11)		778					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2333C>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.078742	0.76528	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T;D	0.85556	-0.7;-0.75;-0.69;-2.0	5.25	5.25	0.73442	.	.	.	.	.	D	0.89178	0.6641	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.993;0.995;1.0	P;D;D	0.83275	0.782;0.948;0.996	D	0.90256	0.4297	9	0.72032	D	0.01	-7.5225	19.2038	0.93722	0.0:1.0:0.0:0.0	.	778;652;778	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	N	683;652;778;778;576	ENSP00000307208:T652N;ENSP00000334351:T778N;ENSP00000315454:T778N;ENSP00000440854:T576N	ENSP00000307208:T652N	T	+	2	0	BPTF	63318512	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.664000	0.83830	2.585000	0.87301	0.655000	0.94253	ACC		0.473	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	39	1	0	0.014758	1	0.0151569	5	39				
PCNX	22990	broad.mit.edu	37	14	71443799	71443799	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:71443799C>T	ENST00000304743.2	+	6	1191	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	PCNX_ENST00000439984.3_Missense_Mutation_p.H249Y|PCNX_ENST00000238570.5_Missense_Mutation_p.H249Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	249	Poly-His.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TAACCACCACCACCATGTTGA	0.493																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(745-747)Cac>Tac		pecanex homolog (Drosophila)							137.0	115.0	122.0					14																	71443799		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71443799C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.745C>T	14.37:g.71443799C>T	ENSP00000304192:p.His249Tyr					PCNX_ENST00000439984.3_Missense_Mutation_p.H249Y|PCNX_ENST00000238570.5_Missense_Mutation_p.H249Y	p.H249Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1191	+			249			Poly-His.		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.745C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107983	0.56291	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.41065	1.01;1.01;1.01	5.64	5.64	0.86602	.	0.205075	0.44097	D	0.000492	T	0.20170	0.0485	N	0.03608	-0.345	0.43091	D	0.994765	P;P;B	0.36048	0.534;0.534;0.112	B;B;B	0.34722	0.188;0.188;0.032	T	0.18085	-1.0348	10	0.02654	T	1	.	17.8699	0.88808	0.0:1.0:0.0:0.0	.	249;249;249	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Y	249	ENSP00000304192:H249Y;ENSP00000238570:H249Y;ENSP00000396617:H249Y	ENSP00000238570:H249Y	H	+	1	0	PCNX	70513552	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.184000	0.77705	2.659000	0.90383	0.655000	0.94253	CAC		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	48	0	0	0	1	0	5	48				
HSP90AA1	3320	broad.mit.edu	37	14	102549601	102549601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr14:102549601C>A	ENST00000216281.8	-	9	1730	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E330*|HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.E631*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	509					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CGAAGACGTTCCACAAAGGCT	0.413																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1891-1893)Gaa>Taa		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						129.0	124.0	125.0					14																	102549601		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102549601C>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1525G>T	14.37:g.102549601C>A	ENSP00000216281:p.Glu509*					HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E509*|HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E330*	p.E631*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			10	2172	-			509					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.1891G>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	37	6.332220	0.97480	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.1247	17.4478	0.87583	0.0:1.0:0.0:0.0	.	.	.	.	X	509;631;330	.	ENSP00000216281:E509X	E	-	1	0	HSP90AA1	101619354	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.565000	0.82337	2.192000	0.70111	0.655000	0.94253	GAA		0.413	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		32	113	1	0	9.80977e-26	1	1.38063e-25	32	113				
OR5M3	219482	broad.mit.edu	37	11	56237418	56237418	+	Missense_Mutation	SNP	C	C	G	rs373931754		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr11:56237418C>G	ENST00000312240.2	-	1	596	c.556G>C	c.(556-558)Gcc>Ccc	p.A186P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCAGCACAGGCCATTTTGATG	0.398																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(556-558)Gcc>Ccc		olfactory receptor, family 5, subfamily M, member 3							131.0	120.0	124.0					11																	56237418		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237418C>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.556G>C	11.37:g.56237418C>G	ENSP00000312208:p.Ala186Pro						p.A186P	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	596	-	Esophageal squamous(21;0.00448)		186					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.556G>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369079	0.61624	.	.	ENSG00000174937	ENST00000312240	T	0.00235	8.48	5.08	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000385	T	0.00784	0.0026	H	0.95224	3.64	0.29431	N	0.859862	D	0.89917	1.0	D	0.81914	0.995	T	0.03112	-1.1071	10	0.72032	D	0.01	-15.2428	10.6126	0.45432	0.3486:0.6514:0.0:0.0	.	186	Q8NGP4	OR5M3_HUMAN	P	186	ENSP00000312208:A186P	ENSP00000312208:A186P	A	-	1	0	OR5M3	55993994	0.001000	0.12720	0.996000	0.52242	0.877000	0.50540	0.016000	0.13377	1.094000	0.41399	0.549000	0.68633	GCC		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		13	172	0	0	0	1	0	13	172				
C17orf97	400566	broad.mit.edu	37	17	263327	263327	+	Silent	SNP	C	C	T	rs199964379		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr17:263327C>T	ENST00000360127.6	+	2	709	c.693C>T	c.(691-693)gcC>gcT	p.A231A	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	231	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						ACCCCGAGGCCCTCAAGGGCT	0.721																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(691-693)gcC>gcT		chromosome 17 open reading frame 97							6.0	11.0	9.0					17																	263327		1925	4049	5974	SO:0001819	synonymous_variant	400566							g.chr17:263327C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.693C>T	17.37:g.263327C>T						C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.A231A	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	709	+			231			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.693C>T	CCDS32519.2																																																																																				0.721	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		4	41	0	0	0	1	0	4	41				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	221	1	0	2.0095e-06	1	2.38628e-06	5	221				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	115	0	0	0	1	0	4	115				
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	G	A	rs369312237|rs56241301		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr6:170871049G>A	ENST00000392092.2	+	3	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_ENST00000540980.1_Silent_p.Q55Q|TBP_ENST00000230354.6_Silent_p.Q75Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	75	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q75Q(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(223-225)caG>caA		TATA box binding protein							15.0	19.0	18.0					6																	170871049		1966	3856	5822	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871049G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.225G>A	6.37:g.170871049G>A						TBP_ENST00000540980.1_Silent_p.Q55Q|TBP_ENST00000230354.6_Silent_p.Q75Q	p.Q75Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	504	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	75			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.225G>A	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	61	0	0	0	1	0	5	61				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	22	0	0	0	1	0	4	22				
RIMBP2	23504	broad.mit.edu	37	12	130921558	130921558	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr12:130921558G>T	ENST00000261655.4	-	10	2047	c.1884C>A	c.(1882-1884)agC>agA	p.S628R	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S536R|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S536R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	628	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGGTGCACGGCTCTGCTCCC	0.662																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1882-1884)agC>agA		RIMS binding protein 2							62.0	55.0	57.0					12																	130921558		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921558G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1884C>A	12.37:g.130921558G>T	ENSP00000261655:p.Ser628Arg					RIMBP2_ENST00000536002.1_Missense_Mutation_p.S536R|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S536R	p.S628R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2047	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	628			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1884C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	5.749	0.322648	0.10900	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20598	2.06;2.91;2.91	4.63	0.0751	0.14398	.	0.775907	0.11802	N	0.528044	T	0.16385	0.0394	L	0.40543	1.245	0.33466	D	0.585628	B;P;B	0.39094	0.201;0.659;0.201	B;B;B	0.41135	0.063;0.348;0.029	T	0.33879	-0.9851	10	0.35671	T	0.21	-9.2062	5.1065	0.14787	0.376:0.2594:0.3645:0.0	.	536;536;628	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	R	628;536;536;536	ENSP00000261655:S628R;ENSP00000440347:S536R;ENSP00000439159:S536R	ENSP00000261655:S628R	S	-	3	2	RIMBP2	129487511	1.000000	0.71417	0.661000	0.29709	0.040000	0.13550	1.318000	0.33643	0.398000	0.25338	0.561000	0.74099	AGC		0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		13	22	1	0	4.3838e-07	1	5.74429e-07	13	22				
KRTAP5-10	387273	broad.mit.edu	37	11	71276879	71276879	+	Silent	SNP	G	G	T	rs111331435		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr11:71276879G>T	ENST00000398531.1	+	1	271	c.246G>T	c.(244-246)ggG>ggT	p.G82G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	82	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAAGGGGGCTGTGGTT	0.682																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(244-246)ggG>ggT		keratin associated protein 5-10							50.0	70.0	64.0					11																	71276879		2140	4258	6398	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276879G>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.246G>T	11.37:g.71276879G>T						KRTAP5-10_ENST00000376536.4_Intron	p.G82G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	271	+			82			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.246G>T	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			6	291	1	0	0.00307968	1	0.00344199	6	291				
ZAK	51776	broad.mit.edu	37	2	174086201	174086201	+	Intron	SNP	C	C	T	rs575630590	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr2:174086201C>T	ENST00000375213.3	+	11	1065				MLTK_ENST00000539448.1_Silent_p.D437D|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Silent_p.D437D|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Silent_p.D336D	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAGAAGGtgacgatgatgatg	0.403																																						ENST00000338983.3																			0											c.(1309-1311)gaC>gaT									57.0	55.0	55.0					2																	174086201		2203	4300	6503	SO:0001627	intron_variant	0							g.chr2:174086201C>T																												ENST00000375213.3:c.987+4223C>T	2.37:g.174086201C>T						MLTK_ENST00000539448.1_Silent_p.D437D|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Silent_p.D336D|MLTK_ENST00000375213.3_Intron	p.D437D	NM_133646.2	NP_598407.1					12	1506	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	c.1311C>T	CCDS42777.1																																																																																				0.403	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			5	38	0	0	0	1	0	5	38				
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		25	111						25	111	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			2	4						2	4	---	---	---	---
NEK10	152110	broad.mit.edu	37	3	27343258	27343258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr3:27343258delA	ENST00000429845.2	-	14	1459	c.1097delT	c.(1096-1098)atcfs	p.I366fs	NEK10_ENST00000341435.5_Frame_Shift_Del_p.I366fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	366					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGCTGCTGGATTCGGCCTGC	0.373																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1096-1098)acfs		NIMA-related kinase 10							37.0	33.0	34.0					3																	27343258		1563	3576	5139	SO:0001589	frameshift_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27343258delA	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1097delT	3.37:g.27343258delA	ENSP00000395849:p.Ile366fs					NEK10_ENST00000341435.5_Frame_Shift_Del_p.I366fs	p.I366fs			Q6ZWH5	NEK10_HUMAN			14	1459	-			366					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Del	DEL	ENST00000429845.2	37	c.1097delT																																																																																					0.373	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		2	4						2	4	---	---	---	---
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			7	15						7	15	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			0							g.chr7:65226569delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	2						5	2	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		5	7						5	7	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							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)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	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.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	3						3	3	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		14	1						14	1	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	57						7	57	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGGGCAGGGGGGGTGCC	0.557																																						ENST00000424208.1																			0																				213.0	225.0	221.0					15																	25456925		876	1991	2867			0							g.chr15:25456925delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25456925delG						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.557	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			8	328						8	328	---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28913640	28913640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr16:28913640delC	ENST00000357084.3	+	17	2724	c.2457delC	c.(2455-2457)cgcfs	p.R819fs	ATP2A1_ENST00000395503.4_Frame_Shift_Del_p.R819fs|ATP2A1_ENST00000536376.1_Frame_Shift_Del_p.R694fs	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	819					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCATGGACCGCCCCCCCCGGA	0.657																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2455-2457)cgfs		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1			,	55,41,4168		0,0,55,0,41,2036	54.0	65.0	61.0		,	3.9	1.0	16		62	55,65,8132		0,0,55,0,65,4006	no	codingComplex,codingComplex	ATP2A1	NM_173201.3,NM_004320.4	,	0,0,110,0,106,6042	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4542,2.2514,1.7258	,	,	28913640	110,106,12300	2197	4300	6497	SO:0001589	frameshift_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913640delC		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2457delC	16.37:g.28913640delC	ENSP00000349595:p.Arg819fs					ATP2A1_ENST00000536376.1_Frame_Shift_Del_p.R694fs|ATP2A1_ENST00000357084.3_Frame_Shift_Del_p.R819fs	p.R819fs	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			17	2641	+			819					A8K5J9|B3KY17|O14984	Frame_Shift_Del	DEL	ENST00000357084.3	37	c.2457delC	CCDS10643.1																																																																																				0.657	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		7	235						7	235	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			13	46						13	46	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-	rs372349446		TCGA-KS-A4ID-01A-11D-A257-08	TCGA-KS-A4ID-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2	e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606																																						ENST00000252530.5																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1030-1032)del		family with sequence similarity 98, member C				414,186,2888		21,2,370,1,182,1168						-2.6	0.1		dbSNP_134	37	186,506,7042		7,0,172,3,500,3185	no	codingComplex	FAM98C	NM_174905.3		28,2,542,4,682,4353	A1A1,A1A2,A1R,A2A2,A2R,RR		8.9475,17.2018,11.5131				600,692,9930				SO:0001651	inframe_deletion	147965							g.chr19:38899502_38899504delAAG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.1030_1032delAAG	19.37:g.38899511_38899513delAAG	ENSP00000252530:p.Lys349del					FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	p.K349del	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	1049_1051	+	all_cancers(60;3.95e-06)		349					A6NMW3|Q66K45	In_Frame_Del	DEL	ENST00000252530.5	37	c.1030_1032delAAG	CCDS42562.1																																																																																				0.606	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		16	101						16	101	---	---	---	---
