#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
ZFPM2	23414	broad.mit.edu	37	8	106814523	106814523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:106814523G>A	ENST00000407775.2	+	8	2463	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	738					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACACGCAAGCGCAGAAAGATG	0.507																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2212-2214)cGc>cAc		zinc finger protein, FOG family member 2							47.0	47.0	47.0					8																	106814523		2089	4219	6308	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814523G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2213G>A	8.37:g.106814523G>A	ENSP00000384179:p.Arg738His					RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R469H|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R606H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.R738H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2463	+			738					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2213G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625813	0.87560	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.54675	0.56;1.13;1.13;2.36	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73490	-0.3966	10	0.54805	T	0.06	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	738	Q8WW38	FOG2_HUMAN	H	738;606;606;469	ENSP00000384179:R738H;ENSP00000430757:R606H;ENSP00000428720:R606H;ENSP00000367733:R469H	ENSP00000367733:R469H	R	+	2	0	ZFPM2	106883699	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	CGC		0.507	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			5	20	0	0	0	1	0	5	20				
FCRL1	115350	broad.mit.edu	37	1	157773734	157773734	+	Missense_Mutation	SNP	C	C	T	rs199965054		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:157773734C>T	ENST00000368176.3	-	3	287	c.220G>A	c.(220-222)Gct>Act	p.A74T	FCRL1_ENST00000358292.3_Missense_Mutation_p.A74T|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	74	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACATGGCAGCGATCTGGAGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18557	0.001		0.0	False		,,,				2504	0.0				GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(220-222)Gct>Act		Fc receptor-like 1							96.0	93.0	94.0					1																	157773734		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773734C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.220G>A	1.37:g.157773734C>T	ENSP00000357158:p.Ala74Thr					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A74T|FCRL1_ENST00000368176.3_Missense_Mutation_p.A74T	p.A74T	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	271	-	all_hematologic(112;0.0378)		74			Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.220G>A	CCDS1170.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.834	0.720490	0.15372	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11930	2.73;2.73;2.73	4.55	-9.11	0.00711	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.297580	0.01368	N	0.012475	T	0.01730	0.0055	L	0.31065	0.9	0.09310	N	1	B;B;B	0.29909	0.261;0.244;0.155	B;B;B	0.22753	0.041;0.019;0.007	T	0.11966	-1.0566	10	0.24483	T	0.36	.	4.2691	0.10778	0.2066:0.5036:0.1229:0.1668	.	74;74;74	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	T	74	ENSP00000351039:A74T;ENSP00000357158:A74T;ENSP00000418130:A74T	ENSP00000351039:A74T	A	-	1	0	FCRL1	156040358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.602000	0.05680	-3.118000	0.00239	-1.045000	0.02358	GCT		0.557	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	71	0	0	0	1	0	8	71				
TRIM28	10155	broad.mit.edu	37	19	59060418	59060418	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:59060418A>T	ENST00000253024.5	+	12	1762	c.1473A>T	c.(1471-1473)gaA>gaT	p.E491D	TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	491	HP1 box.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAGCCTTGAACGCCTGGACC	0.582																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1471-1473)gaA>gaT		tripartite motif containing 28							72.0	69.0	70.0					19																	59060418		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060418A>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1473A>T	19.37:g.59060418A>T	ENSP00000253024:p.Glu491Asp					TRIM28_ENST00000341753.6_Missense_Mutation_p.E409D	p.E491D	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	12	1762	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	491			HP1 box.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1473A>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397792	0.42512	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.70282	-0.24;-0.47	4.95	2.79	0.32731	.	0.000000	0.64402	D	0.000008	T	0.52354	0.1729	N	0.19112	0.55	0.32690	N	0.51429	P;P;P	0.51933	0.849;0.949;0.765	P;B;B	0.44561	0.453;0.153;0.265	T	0.59484	-0.7446	10	0.40728	T	0.16	-25.0094	4.9551	0.14035	0.4648:0.0:0.5352:0.0	.	409;491;491	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	D	491;409	ENSP00000253024:E491D;ENSP00000342232:E409D	ENSP00000253024:E491D	E	+	3	2	TRIM28	63752230	1.000000	0.71417	0.973000	0.42090	0.010000	0.07245	0.570000	0.23653	0.400000	0.25396	0.448000	0.29417	GAA		0.582	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		4	15	0	0	0	1	0	4	15				
GPR123	84435	broad.mit.edu	37	10	134909215	134909215	+	Intron	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:134909215G>A	ENST00000392607.3	+	3	439				GPR123_ENST00000607359.1_Silent_p.R698R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGGCTGGACGGACAAGAAGTG	0.642																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2092-2094)cgG>cgA		G protein-coupled receptor 123							40.0	43.0	42.0					10																	134909215		1568	3582	5150	SO:0001627	intron_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134909215G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.4-1263G>A	10.37:g.134909215G>A						GPR123_ENST00000392607.3_Intron	p.R698R			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	11	2094	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.2094G>A	CCDS41580.1																																																																																				0.642	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			3	21	0	0	0	1	0	3	21				
RPL7	6129	broad.mit.edu	37	8	74205006	74205006	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:74205006A>C	ENST00000352983.2	-	2	326	c.41T>G	c.(40-42)gTg>gGg	p.V14G	RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000487500.1_5'Flank			P18124	RL7_HUMAN	ribosomal protein L7	14	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GGTTTCTGGCACAGCAGGAAC	0.413																																						ENST00000352983.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(40-42)gTg>gGg		ribosomal protein L7							56.0	65.0	62.0					8																	74205006		2203	4300	6503	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74205006A>C	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.41T>G	8.37:g.74205006A>C	ENSP00000339795:p.Val14Gly					RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396465.1_5'UTR|RPL7_ENST00000396467.1_5'UTR	p.V14G			P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		2	326	-	Breast(64;0.0954)		14			4 X 12 AA tandem repeats.		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.41T>G	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191535	0.58017	.	.	ENSG00000147604	ENST00000352983	.	.	.	4.71	3.51	0.40186	.	0.000000	0.64402	U	0.000007	T	0.75421	0.3847	M	0.85710	2.77	0.80722	D	1	P	0.47677	0.899	P	0.56612	0.802	T	0.77571	-0.2538	9	0.87932	D	0	.	10.2693	0.43473	0.92:0.0:0.08:0.0	.	14	P18124	RL7_HUMAN	G	14	.	ENSP00000339795:V14G	V	-	2	0	RPL7	74367560	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.277000	0.78572	0.785000	0.33685	0.533000	0.62120	GTG		0.413	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		7	41	0	0	0	1	0	7	41				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	44	1	0	0.00198382	1	0.00204781	5	44				
GOLGA8EP	390535	broad.mit.edu	37	15	23444052	23444052	+	RNA	SNP	G	G	A	rs202140643		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr15:23444052G>A	ENST00000526079.1	+	0	1696				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		GAGGCACCTCGGCCCATGCCG	0.607																																						ENST00000526079.1																			0																				5.0	6.0	6.0					15																	23444052		1268	2442	3710			0							g.chr15:23444052G>A			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23444052G>A								NR_027407.1|NR_033350.1						0	1696	+									RNA	SNP	ENST00000526079.1	37																																																																																						0.607	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		3	49	0	0	0	1	0	3	49				
CSPG4	1464	broad.mit.edu	37	15	75981427	75981427	+	Missense_Mutation	SNP	C	C	T	rs142305247	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr15:75981427C>T	ENST00000308508.5	-	3	2071	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	660	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TATGGCCGGCCGGATGGCCAC	0.662													C|||	4	0.000798722	0.003	0.0	5008	,	,		17031	0.0		0.0	False		,,,				2504	0.0					ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1978-1980)cGg>cAg		chondroitin sulfate proteoglycan 4		C	GLN/ARG	7,4387		0,7,2190	41.0	42.0	42.0		1979	1.4	0.8	15	dbSNP_134	42	6,8576		0,6,4285	no	missense	CSPG4	NM_001897.4	43	0,13,6475	TT,TC,CC		0.0699,0.1593,0.1002	possibly-damaging	660/2323	75981427	13,12963	2197	4291	6488	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981427C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1979G>A	15.37:g.75981427C>T	ENSP00000312506:p.Arg660Gln						p.R660Q	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2071	-			660			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1979G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	3.810	-0.039833	0.07497	0.001593	6.99E-4	ENSG00000173546	ENST00000308508	T	0.40476	1.03	5.35	1.35	0.21983	.	0.514629	0.18634	N	0.135488	T	0.20047	0.0482	L	0.31207	0.915	0.27661	N	0.94707	P	0.36412	0.552	B	0.23419	0.046	T	0.15009	-1.0452	10	0.12103	T	0.63	.	6.9388	0.24481	0.0:0.507:0.0:0.493	.	660	Q6UVK1	CSPG4_HUMAN	Q	660	ENSP00000312506:R660Q	ENSP00000312506:R660Q	R	-	2	0	CSPG4	73768482	0.993000	0.37304	0.801000	0.32222	0.076000	0.17211	1.162000	0.31786	0.641000	0.30601	-0.266000	0.10368	CGG		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	49	0	0	0	1	0	3	49				
PHIP	55023	broad.mit.edu	37	6	79672824	79672824	+	Silent	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr6:79672824C>T	ENST00000275034.4	-	30	3692	c.3525G>A	c.(3523-3525)ttG>ttA	p.L1175L	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1175					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTAGTGTCATCAACTGGTTTA	0.373																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3523-3525)ttG>ttA		pleckstrin homology domain interacting protein							290.0	273.0	278.0					6																	79672824		2203	4300	6503	SO:0001819	synonymous_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79672824C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3525G>A	6.37:g.79672824C>T						PHIP_ENST00000479165.1_5'UTR	p.L1175L	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	30	3692	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1175					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	c.3525G>A	CCDS4987.1																																																																																				0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	172	0	0	0	1	0	7	172				
CDS1	1040	broad.mit.edu	37	4	85569757	85569757	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr4:85569757C>T	ENST00000295887.5	+	13	1727	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTGCTTCAACCTGAACAGCAG	0.403																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(1303-1305)cCt>cTt		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							68.0	67.0	68.0					4																	85569757		2203	4300	6503	SO:0001583	missense	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85569757C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1304C>T	4.37:g.85569757C>T	ENSP00000295887:p.Pro435Leu						p.P435L	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	13	1727	+		Hepatocellular(203;0.114)	435					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	c.1304C>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724999	0.48833	.	.	ENSG00000163624	ENST00000295887	T	0.44083	0.93	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.74881	2.28	0.80722	D	1	D	0.58268	0.982	P	0.52217	0.693	T	0.51482	-0.8700	10	0.11485	T	0.65	-6.6389	19.7392	0.96219	0.0:1.0:0.0:0.0	.	435	Q92903	CDS1_HUMAN	L	435	ENSP00000295887:P435L	ENSP00000295887:P435L	P	+	2	0	CDS1	85788781	0.998000	0.40836	0.321000	0.25320	0.130000	0.20726	5.416000	0.66417	2.649000	0.89929	0.650000	0.86243	CCT		0.403	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			11	39	0	0	0	1	0	11	39				
BTBD16	118663	broad.mit.edu	37	10	124050622	124050622	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:124050622A>G	ENST00000260723.4	+	7	754	c.503A>G	c.(502-504)tAc>tGc	p.Y168C	BTBD16_ENST00000368994.2_Missense_Mutation_p.Y169C	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	168	BTB.									breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AAGAACCTCTACATGAGTGAG	0.582																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(505-507)tAc>tGc		BTB (POZ) domain containing 16							145.0	138.0	140.0					10																	124050622		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124050622A>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.503A>G	10.37:g.124050622A>G	ENSP00000260723:p.Tyr168Cys					BTBD16_ENST00000260723.4_Missense_Mutation_p.Y168C	p.Y169C			Q32M84	BTBDG_HUMAN			7	757	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	168			BTB.		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.506A>G	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778909	0.49891	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.54866	0.55;0.55	5.56	5.56	0.83823	BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	T	0.74831	0.3768	M	0.87456	2.885	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79564	-0.1751	10	0.87932	D	0	-32.2448	12.1116	0.53842	1.0:0.0:0.0:0.0	.	169;168	Q32M84-2;Q32M84	.;BTBDG_HUMAN	C	168;169	ENSP00000260723:Y168C;ENSP00000357990:Y169C	ENSP00000260723:Y168C	Y	+	2	0	BTBD16	124040612	0.938000	0.31826	0.907000	0.35723	0.283000	0.27025	2.790000	0.47821	2.103000	0.63969	0.533000	0.62120	TAC		0.582	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		25	85	0	0	0	1	0	25	85				
OR2M7	391196	broad.mit.edu	37	1	248487019	248487019	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:248487019C>T	ENST00000317965.2	-	1	880	c.852G>A	c.(850-852)atG>atA	p.M284I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGATTCAGCATGGGAGTGA	0.438																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(850-852)atG>atA		olfactory receptor, family 2, subfamily M, member 7							102.0	95.0	97.0					1																	248487019		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487019C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.852G>A	1.37:g.248487019C>T	ENSP00000324557:p.Met284Ile						p.M284I	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	880	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		284					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.852G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249228	0.05867	.	.	ENSG00000177186	ENST00000317965	T	0.37411	1.2	1.55	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36771	0.0979	M	0.78285	2.405	0.20975	N	0.999814	B	0.15141	0.012	B	0.15484	0.013	T	0.39603	-0.9606	9	0.66056	D	0.02	.	6.4289	0.21786	0.0:0.7022:0.0:0.2978	.	284	Q8NG81	OR2M7_HUMAN	I	284	ENSP00000324557:M284I	ENSP00000324557:M284I	M	-	3	0	OR2M7	246553642	0.000000	0.05858	0.664000	0.29753	0.038000	0.13279	-1.029000	0.03585	0.001000	0.14605	0.194000	0.17425	ATG		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		7	46	0	0	0	1	0	7	46				
OR4C11	219429	broad.mit.edu	37	11	55371196	55371196	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr11:55371196G>A	ENST00000302231.4	-	1	678	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATGCAAGATGACAATATATG	0.413																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(652-654)gtC>gtT		olfactory receptor, family 4, subfamily C, member 11							79.0	68.0	72.0					11																	55371196		2176	4005	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371196G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.654C>T	11.37:g.55371196G>A							p.V218V	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	678	-			218					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.654C>T	CCDS31503.1																																																																																				0.413	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		25	77	0	0	0	1	0	25	77				
CSPP1	79848	broad.mit.edu	37	8	68084687	68084687	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr8:68084687G>A	ENST00000262210.5	+	23	2881	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	985					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATATGGCTAGACATC	0.378																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2848-2850)atG>atA		centrosome and spindle pole associated protein 1							90.0	92.0	92.0					8																	68084687		1847	4089	5936	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084687G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2850G>A	8.37:g.68084687G>A	ENSP00000262210:p.Met950Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.M605I|CSPP1_ENST00000521168.1_3'UTR	p.M950I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2881	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	985					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2850G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926553	0.73327	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.34275	1.37;1.39;1.39	5.72	5.72	0.89469	.	0.112294	0.64402	D	0.000012	T	0.55273	0.1910	L	0.59436	1.845	0.28558	N	0.911295	D;P;P;P	0.58268	0.982;0.813;0.794;0.794	D;P;B;B	0.68943	0.961;0.642;0.406;0.406	T	0.53788	-0.8389	10	0.66056	D	0.02	-15.881	14.3278	0.66532	0.0:0.0:0.8516:0.1484	.	108;605;950;985	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	I	950;985;605;605	ENSP00000262210:M950I;ENSP00000415782:M605I;ENSP00000430092:M605I	ENSP00000262210:M950I	M	+	3	0	CSPP1	68247241	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.899000	0.63245	2.689000	0.91719	0.591000	0.81541	ATG		0.378	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	65	0	0	0	1	0	12	65				
PTPRE	5791	broad.mit.edu	37	10	129854464	129854464	+	Silent	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr10:129854464C>T	ENST00000254667.3	+	7	777	c.498C>T	c.(496-498)ccC>ccT	p.P166P	PTPRE_ENST00000306042.5_Silent_p.P108P|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000419012.2_Silent_p.P166P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	166	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ACAGATATCCCAACATCCTTC	0.393																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(496-498)ccC>ccT		protein tyrosine phosphatase, receptor type, E							106.0	114.0	111.0					10																	129854464		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129854464C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.498C>T	10.37:g.129854464C>T						PTPRE_ENST00000419012.2_Silent_p.P166P|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Silent_p.P108P	p.P166P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			7	777	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	166			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.498C>T	CCDS7657.1																																																																																				0.393	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			21	121	0	0	0	1	0	21	121				
MUC16	94025	broad.mit.edu	37	19	9045763	9045763	+	Silent	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr19:9045763G>A	ENST00000397910.4	-	5	36071	c.35868C>T	c.(35866-35868)acC>acT	p.T11956T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11958	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCATGACTGGTTTTAGGTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35866-35868)acC>acT		mucin 16, cell surface associated							200.0	190.0	193.0					19																	9045763		1976	4163	6139	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045763G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35868C>T	19.37:g.9045763G>A							p.T11956T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	36071	-			11958			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.35868C>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	54	0	0	0	1	0	13	54				
TRPM1	4308	broad.mit.edu	37	15	31334212	31334212	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr15:31334212C>T	ENST00000256552.6	-	17	2176	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	TRPM1_ENST00000397795.2_Missense_Mutation_p.E655K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.E694K	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCGGAGGACTCGTGGGCCATG	0.547																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2080-2082)Gag>Aag		transient receptor potential cation channel, subfamily M, member 1							67.0	72.0	70.0					15																	31334212		2168	4292	6460	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31334212C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2029G>A	15.37:g.31334212C>T	ENSP00000256552:p.Glu677Lys					TRPM1_ENST00000256552.6_Missense_Mutation_p.E677K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E655K	p.E694K	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	16	2393	-		all_lung(180;1.92e-11)	655						Missense_Mutation	SNP	ENST00000256552.6	37	c.2080G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465571	0.96257	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.65916	-0.18;-0.18;-0.18	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82784	-0.0286	10	0.87932	D	0	-31.1684	18.0463	0.89334	0.0:1.0:0.0:0.0	.	649;655	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	K	655;694;677;655	ENSP00000380897:E655K;ENSP00000437849:E694K;ENSP00000256552:E677K	ENSP00000256552:E677K	E	-	1	0	TRPM1	29121504	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.754000	0.85163	2.304000	0.77564	0.655000	0.94253	GAG		0.547	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		12	66	0	0	0	1	0	12	66				
OR6N2	81442	broad.mit.edu	37	1	158747100	158747100	+	Missense_Mutation	SNP	G	G	A	rs139851411	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:158747100G>A	ENST00000339258.1	-	1	325	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCATTCAGACGCTCCCAAGGA	0.468													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		22345	0.0		0.0	False		,,,				2504	0.0					ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(325-327)gCg>gTg		olfactory receptor, family 6, subfamily N, member 2		G	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	107.0	107.0	107.0		326	5.2	1.0	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR6N2	NM_001005278.1	64	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	109/318	158747100	8,12998	2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747100G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.326C>T	1.37:g.158747100G>A	ENSP00000344101:p.Ala109Val						p.A109V	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	325	-	all_hematologic(112;0.0378)		109					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.326C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129193	0.37533	0.001589	1.16E-4	ENSG00000188340	ENST00000339258	T	0.02050	4.48	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001764	T	0.00845	0.0028	N	0.11313	0.125	0.31086	N	0.711388	D	0.64830	0.994	B	0.43658	0.426	T	0.60642	-0.7223	10	0.38643	T	0.18	-16.5266	13.3322	0.60495	0.0:0.1589:0.841:0.0	.	109	Q8NGY6	OR6N2_HUMAN	V	109	ENSP00000344101:A109V	ENSP00000344101:A109V	A	-	2	0	OR6N2	157013724	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	-1.135000	0.03225	2.686000	0.91538	0.650000	0.86243	GCG		0.468	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			14	47	0	0	0	1	0	14	47				
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7282-7284)gtC>gtG		mucin 17, cell surface associated							362.0	354.0	357.0					7																	100681981		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681981C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7284C>G	7.37:g.100681981C>G							p.V2428V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7348	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2428			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7284C>G	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	311	0	0	0	1	0	4	311				
RARRES1	5918	broad.mit.edu	37	3	158428676	158428676	+	Missense_Mutation	SNP	C	C	G	rs201569002		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr3:158428676C>G	ENST00000237696.5	-	3	666	c.386G>C	c.(385-387)cGa>cCa	p.R129P	RARRES1_ENST00000479756.1_Missense_Mutation_p.R129P|RARRES1_ENST00000498640.1_Intron	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	129					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	GAAAAACACTCGAGCAGAACA	0.438																																						ENST00000237696.5																			0				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(385-387)cGa>cCa		retinoic acid receptor responder (tazarotene induced) 1	Tretinoin(DB00755)						197.0	181.0	187.0					3																	158428676		2203	4300	6503	SO:0001583	missense	0				negative regulation of cell proliferation	integral to membrane		g.chr3:158428676C>G	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.386G>C	3.37:g.158428676C>G	ENSP00000237696:p.Arg129Pro					RARRES1_ENST00000479756.1_Missense_Mutation_p.R129P|RARRES1_ENST00000498640.1_Intron	p.R129P	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		3	666	-			129					Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	c.386G>C	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218924	0.58560	.	.	ENSG00000118849	ENST00000237696;ENST00000479756	T;T	0.45276	0.9;0.9	5.7	-7.92	0.01160	.	0.925772	0.09205	N	0.834074	T	0.35740	0.0942	L	0.54323	1.7	0.09310	N	1	D;D	0.60575	0.988;0.984	P;P	0.50490	0.606;0.642	T	0.22452	-1.0216	10	0.46703	T	0.11	.	3.4789	0.07595	0.1046:0.1774:0.1918:0.5262	.	129;129	P49788-2;P49788	.;TIG1_HUMAN	P	129	ENSP00000237696:R129P;ENSP00000418556:R129P	ENSP00000237696:R129P	R	-	2	0	RARRES1	159911370	0.000000	0.05858	0.000000	0.03702	0.989000	0.77384	-2.257000	0.01180	-1.270000	0.02433	0.655000	0.94253	CGA		0.438	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1			43	138	0	0	0	1	0	43	138				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	46	0	0	0	1	0	4	46				
ZNF521	25925	broad.mit.edu	37	18	22806306	22806306	+	Missense_Mutation	SNP	A	A	G	rs371804263		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr18:22806306A>G	ENST00000361524.3	-	4	1724	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	526					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCAGGGAAGAGTCAGTGAGA	0.463			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1576-1578)Tct>Cct		zinc finger protein 521							74.0	80.0	78.0					18																	22806306		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806306A>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1576T>C	18.37:g.22806306A>G	ENSP00000354794:p.Ser526Pro					ZNF521_ENST00000584787.1_Missense_Mutation_p.S306P|ZNF521_ENST00000538137.2_Missense_Mutation_p.S526P	p.S526P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1724	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		526					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1576T>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	6.689	0.495797	0.12762	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.32988	1.43;1.43	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.165254	0.56097	D	0.000031	T	0.34483	0.0899	L	0.27053	0.805	0.34889	D	0.745333	P	0.37781	0.608	P	0.46975	0.533	T	0.49735	-0.8908	10	0.66056	D	0.02	-18.871	16.2847	0.82712	1.0:0.0:0.0:0.0	.	526	Q96K83	ZN521_HUMAN	P	526;560;526	ENSP00000354794:S526P;ENSP00000382352:S526P	ENSP00000354794:S526P	S	-	1	0	ZNF521	21060304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.157000	0.42320	2.242000	0.73789	0.528000	0.53228	TCT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	45	0	0	0	1	0	14	45				
IGFN1	91156	broad.mit.edu	37	1	201195063	201195063	+	Missense_Mutation	SNP	C	C	T	rs139600545		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr1:201195063C>T	ENST00000335211.4	+	22	10728	c.10598C>T	c.(10597-10599)gCg>gTg	p.A3533V	IGFN1_ENST00000295591.8_3'UTR|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1076						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGCACTACGCGGTGTTCACA	0.687																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10597-10599)gCg>gTg		immunoglobulin-like and fibronectin type III domain containing 1		C	VAL/ALA	0,4406		0,0,2203	74.0	61.0	65.0		10598	3.0	0.0	1	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFN1	NM_001164586.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3533/3709	201195063	1,13005	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201195063C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10598C>T	1.37:g.201195063C>T	ENSP00000334714:p.Ala3533Val					IGFN1_ENST00000295591.8_3'UTR	p.A3533V	NM_001164586.1	NP_001158058.1					22	10728	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10598C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.798955	0.00617	0.0	1.16E-4	ENSG00000163395	ENST00000335211	T	0.56941	0.43	5.0	3.0	0.34707	.	0.588783	0.17243	N	0.181451	T	0.21307	0.0513	N	0.03238	-0.38	0.09310	N	0.999997	B	0.28178	0.202	B	0.23150	0.044	T	0.25779	-1.0122	10	0.06365	T	0.9	.	7.0148	0.24883	0.3592:0.5605:0.0:0.0803	.	3533	F8WAI1	.	V	3533	ENSP00000334714:A3533V	ENSP00000334714:A3533V	A	+	2	0	IGFN1	199461686	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.099000	0.15210	0.566000	0.29273	0.561000	0.74099	GCG		0.687	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		6	19	0	0	0	1	0	6	19				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	45	0	0	0	1	0	4	45				
ERC1	23085	broad.mit.edu	37	12	1553813	1553813	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr12:1553813G>A	ENST00000397203.2	+	18	3516	c.3110G>A	c.(3109-3111)cGa>cAa	p.R1037Q	ERC1_ENST00000355446.5_Missense_Mutation_p.R1037Q|ERC1_ENST00000589028.1_Missense_Mutation_p.R1037Q|ERC1_ENST00000546231.2_Missense_Mutation_p.R1041Q|ERC1_ENST00000360905.4_Missense_Mutation_p.R1037Q|ERC1_ENST00000543086.3_Missense_Mutation_p.R1009Q			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1037					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGCCATGACCGAGACCCCCTG	0.498																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(3109-3111)cGa>cAa		ELKS/RAB6-interacting/CAST family member 1							86.0	95.0	92.0					12																	1553813		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1553813G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3110G>A	12.37:g.1553813G>A	ENSP00000380386:p.Arg1037Gln					ERC1_ENST00000543086.3_Missense_Mutation_p.R1009Q|ERC1_ENST00000546231.2_Missense_Mutation_p.R1041Q|ERC1_ENST00000589028.1_Missense_Mutation_p.R1037Q|ERC1_ENST00000360905.4_Missense_Mutation_p.R1037Q|ERC1_ENST00000355446.5_Missense_Mutation_p.R1037Q	p.R1037Q			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		18	3516	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		1037					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.3110G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646270	0.96704	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000355446;ENST00000360905	T;T;T;T	0.34072	1.77;1.79;1.38;1.77	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000011	T	0.49966	0.1588	L	0.27053	0.805	0.54753	D	0.999986	D;D	0.71674	0.998;0.998	D;P	0.72982	0.979;0.689	T	0.53099	-0.8486	10	0.87932	D	0	-7.8066	19.5274	0.95212	0.0:0.0:1.0:0.0	.	1009;1037	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	Q	1037;1009;1037;1037;1037	ENSP00000380386:R1037Q;ENSP00000438546:R1009Q;ENSP00000347621:R1037Q;ENSP00000354158:R1037Q	ENSP00000347621:R1037Q	R	+	2	0	ERC1	1424074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.413000	0.97351	2.618000	0.88619	0.650000	0.86243	CGA		0.498	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		15	65	0	0	0	1	0	15	65				
PPAPDC3	84814	broad.mit.edu	37	9	134183365	134183365	+	Silent	SNP	C	C	T	rs143064692	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr9:134183365C>T	ENST00000372264.3	+	2	811	c.507C>T	c.(505-507)cgC>cgT	p.R169R		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	169					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCAAGCGGCGCGGCCCGTACG	0.687													C|||	9	0.00179712	0.0068	0.0	5008	,	,		15256	0.0		0.0	False		,,,				2504	0.0					ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(505-507)cgC>cgT		phosphatidic acid phosphatase type 2 domain containing 3		C		19,4387	25.3+/-52.1	0,19,2184	42.0	38.0	39.0		507	-9.4	0.2	9	dbSNP_134	39	0,8598		0,0,4299	no	coding-synonymous	PPAPDC3	NM_032728.3		0,19,6483	TT,TC,CC		0.0,0.4312,0.1461		169/272	134183365	19,12985	2203	4299	6502	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134183365C>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.507C>T	9.37:g.134183365C>T							p.R169R	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	2	811	+	all_hematologic(7;0.0119)		169					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.507C>T	CCDS6942.1																																																																																				0.687	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		10	29	0	0	0	1	0	10	29				
STRN3	29966	broad.mit.edu	37	14	31416396	31416396	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr14:31416396G>T	ENST00000357479.5	-	5	812	c.616C>A	c.(616-618)Cta>Ata	p.L206I	STRN3_ENST00000355683.5_Missense_Mutation_p.L206I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	206					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GAATTAGATAGTCCAAGTAAT	0.343																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(616-618)Cta>Ata		striatin, calmodulin binding protein 3							156.0	149.0	151.0					14																	31416396		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31416396G>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.616C>A	14.37:g.31416396G>T	ENSP00000350071:p.Leu206Ile					STRN3_ENST00000357479.5_Missense_Mutation_p.L206I	p.L206I	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	5	831	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		206					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.616C>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603194	0.66445	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.86562	-2.14;-2.14	5.9	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	M	0.69823	2.125	0.58432	D	0.999999	P;D	0.63880	0.577;0.993	B;D	0.70016	0.179;0.967	D	0.89751	0.3940	10	0.44086	T	0.13	-17.7279	10.9469	0.47306	0.1714:0.0:0.8286:0.0	.	206;206	Q13033-2;Q13033	.;STRN3_HUMAN	I	206;206;87	ENSP00000347909:L206I;ENSP00000350071:L206I	ENSP00000347909:L206I	L	-	1	2	STRN3	30486147	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	4.785000	0.62418	0.641000	0.30601	0.591000	0.81541	CTA		0.343	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		4	134	1	0	1	1	1	4	134				
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000520554.1_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						ENST00000398283.2																			1	Substitution - Missense(1)	p.S81R(1)	prostate(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(241-246)agg>ag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292110_114292112delCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG						RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA	p.SR81del	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	247_249	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	ENST00000519065.1	37	c.243_245delCAG	CCDS43493.2																																																																																				0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			2	4						2	4	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1594921	1594922	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr7:1594921_1594922delAG	ENST00000297477.5	-	2	515_516	c.199_200delCT	c.(199-201)ctgfs	p.L67fs		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	67					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTGAGCACCAGGGCAGTCCAC	0.688																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(199-201)gfs		transmembrane protein 184A																																				SO:0001589	frameshift_variant	202915					integral to membrane		g.chr7:1594921_1594922delAG		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.199_200delCT	7.37:g.1594921_1594922delAG	ENSP00000297477:p.Leu67fs						p.L67fs	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	2	515_516	-		Ovarian(82;0.0253)	67					Q8TBQ6	Frame_Shift_Del	DEL	ENST00000297477.5	37	c.199_200delCT	CCDS43537.1																																																																																				0.688	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		2	4						2	4	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058941	79058943	+	In_Frame_Del	DEL	CGC	CGC	-	rs201562030|rs562053654|rs543268667	byFrequency	TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chr15:79058941_79058943delCGC	ENST00000388820.4	-	19	3520_3522	c.3310_3312delGCG	c.(3310-3312)gcgdel	p.A1104del	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1104					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCGTGGAGGGCGCAGCAGGATGG	0.68														254	0.0507188	0.1619	0.0231	5008	,	,		11860	0.0169		0.005	False		,,,				2504	0.002					ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3310-3312)del		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001651	inframe_deletion	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058941_79058943delCGC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3310_3312delGCG	15.37:g.79058941_79058943delCGC	ENSP00000373472:p.Ala1104del						p.A1104del	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3520_3522	-			1104					Q14F51|Q6P7J9	In_Frame_Del	DEL	ENST00000388820.4	37	c.3310_3312delGCG	CCDS32303.1																																																																																				0.680	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	7						4	7	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-	rs377463560		TCGA-KK-A8IC-01A-11D-A364-08	TCGA-KK-A8IC-11A-12D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa9f4535-3165-48c4-a3be-a76526deece3	9a7279b2-607d-41b8-bee0-226b1ae34c08	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	179						7	179	---	---	---	---
