#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_match_norm_validation_allele1	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_tumor_sample
CHD5	26038	broad.mit.edu	37	1	6219573	6219573	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:6219573C>T	ENST00000262450.3	-	3	309	c.210G>A	c.(208-210)ggG>ggA	p.G70G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CATCATTGCTCCCCTGGAAAA	0.542																																						uc001amb.1		NaN																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(208-210)GGG>GGA		chromodomain helicase DNA binding protein 5							63.0	52.0	56.0					1																	6219573		2203	4299	6502	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6219573C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.210G>A	1.37:g.6219573C>T							p.G70G	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	3	310	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	70			Lys-rich.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.210G>A	CCDS57.1																																																																																				0.542	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557		6	7	0	0	0	0.038147	0	6	7		
TNFRSF25	8718	broad.mit.edu	37	1	6521714	6521714	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:6521714C>T	ENST00000356876.3	-	10	1121	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R300Q|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R308Q|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.R354Q|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.R162Q	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	345	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCCAGCGCCGCGCTGGGAC	0.692																																						uc001ane.2		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(1033-1035)CGG>CAG		tumor necrosis factor receptor superfamily,							15.0	16.0	15.0					1																	6521714		2201	4298	6499	SO:0001583	missense	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6521714C>T	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.1034G>A	1.37:g.6521714C>T	ENSP00000349341:p.Arg345Gln					TNFRSF25_uc001ana.2_Missense_Mutation_p.R162Q|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.R118Q|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.R308Q|TNFRSF25_uc001ang.2_Missense_Mutation_p.R300Q|TNFRSF25_uc001anh.2_Missense_Mutation_p.R354Q	p.R345Q	NM_003790	NP_003781	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	10	1122	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	345			Death.|Cytoplasmic (Potential).		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	ENST00000356876.3	37	c.1034G>A	CCDS71.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263598	0.80358	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.14	5.14	0.70334	Death (3);DEATH-like (2);	0.000000	0.33610	U	0.004734	D	0.84483	0.5482	N	0.17082	0.46	0.36020	D	0.838671	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.99;0.964;0.974;0.985;0.974;0.996	D	0.85693	0.1308	10	0.33940	T	0.23	-2.9598	10.7943	0.46451	0.0:0.9118:0.0:0.0882	.	354;300;308;345;346;162	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	Q	345;354;308;162;300	ENSP00000349341:R345Q;ENSP00000367013:R354Q;ENSP00000337713:R308Q;ENSP00000326762:R162Q;ENSP00000314451:R300Q	ENSP00000314451:R300Q	R	-	2	0	TNFRSF25	6444301	1.000000	0.71417	0.954000	0.39281	0.622000	0.37654	3.162000	0.50755	2.381000	0.81170	0.650000	0.86243	CGG		0.692	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1		NM_148965		3	12	0	0	0	0.115264	0	3	12		
RERE	473	broad.mit.edu	37	1	8418613	8418613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:8418613C>T	ENST00000337907.3	-	21	4616	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.E1060K|RERE_ENST00000400908.2_Missense_Mutation_p.E1328K|RERE_ENST00000476556.1_Missense_Mutation_p.E774K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1328					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCTTCACCTCGAAGCCCGGC	0.721																																						uc001ape.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3982-3984)GAG>AAG		atrophin-1 like protein isoform a							15.0	20.0	18.0					1																	8418613		2185	4293	6478	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418613C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3982G>A	1.37:g.8418613C>T	ENSP00000338629:p.Glu1328Lys					RERE_uc001apf.2_Missense_Mutation_p.E1328K|RERE_uc001apd.2_Missense_Mutation_p.E774K	p.E1328K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4792	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1328					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.3982G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485273	0.96323	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.53857	0.6;0.61;0.6	5.61	5.61	0.85477	.	.	.	.	.	T	0.73094	0.3543	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73056	-0.4103	9	0.54805	T	0.06	-25.2775	18.9896	0.92786	0.0:1.0:0.0:0.0	.	1328	Q9P2R6	RERE_HUMAN	K	1328;1060;774;1328	ENSP00000338629:E1328K;ENSP00000366684:E1060K;ENSP00000383700:E1328K	ENSP00000338629:E1328K	E	-	1	0	RERE	8341200	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.702000	0.84576	2.793000	0.96121	0.655000	0.94253	GAG		0.721	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				17	8	0	0	0	0.043863	0	17	8		
ARID1A	8289	broad.mit.edu	37	1	27087417	27087417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:27087417C>G	ENST00000324856.7	+	5	2362	c.1991C>G	c.(1990-1992)tCa>tGa	p.S664*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S281*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S664*|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	664					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S664*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGAGCACATCAGGGATTTCC	0.517			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Nonsense(1)	p.S664*(1)	ovary(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1990-1992)TCA>TGA		AT rich interactive domain 1A isoform a							133.0	137.0	135.0					1																	27087417		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087417C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1991C>G	1.37:g.27087417C>G	ENSP00000320485:p.Ser664*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.S664*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S664*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S281*	p.S664*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	5	2364	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	664					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1991C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	39	7.421142	0.98272	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.1652	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	664;664;281	.	ENSP00000320485:S664X	S	+	2	0	ARID1A	26960004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	TCA		0.517	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		74	86	0	0	0	0.139131	0	74	86		
PPCS	79717	broad.mit.edu	37	1	42925522	42925522	+	Silent	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:42925522A>G	ENST00000372561.3	+	3	868	c.861A>G	c.(859-861)aaA>aaG	p.K287K	PPCS_ENST00000372562.1_Silent_p.K114K|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000455780.1_Silent_p.K114K	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	287					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAATAGAAAAAGGCGTAGAGA	0.388																																						uc001chl.2		NaN																	0					0						c.(859-861)AAA>AAG		phosphopantothenoylcysteine synthetase isoform							93.0	90.0	91.0					1																	42925522		1834	4078	5912	SO:0001819	synonymous_variant	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925522A>G	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.861A>G	1.37:g.42925522A>G						PPCS_uc001chk.2_Silent_p.K114K	p.K287K	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN			3	925	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	287					Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	c.861A>G	CCDS41311.1																																																																																				0.388	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1		NM_024664		3	93	0	0	0	0.115264	0	3	93		
MYSM1	114803	broad.mit.edu	37	1	59127114	59127114	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:59127114G>T	ENST00000472487.1	-	18	2273	c.2234C>A	c.(2233-2235)aCa>aAa	p.T745K	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	745					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TATCCATCTTGTCTTTTCAAA	0.373																																						uc009wab.1		NaN																	0				skin(1)	1						c.(2233-2235)ACA>AAA		Myb-like, SWIRM and MPN domains 1							196.0	176.0	182.0					1																	59127114		1820	4077	5897	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59127114G>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2234C>A	1.37:g.59127114G>T	ENSP00000418734:p.Thr745Lys					uc001cza.2_5'Flank|MYSM1_uc009waa.1_Missense_Mutation_p.T151K|MYSM1_uc001czc.2_RNA	p.T745K	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			18	2257	-	all_cancers(7;9.36e-06)		745					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.2234C>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220891	0.79464	.	.	ENSG00000162601	ENST00000472487	T	0.24350	1.86	5.13	5.13	0.70059	.	0.049608	0.85682	D	0.000000	T	0.40694	0.1127	L	0.54323	1.7	0.44447	D	0.997372	D	0.64830	0.994	P	0.56278	0.795	T	0.09796	-1.0658	10	0.49607	T	0.09	-15.7465	15.8908	0.79296	0.0:0.0:1.0:0.0	.	745	Q5VVJ2	MYSM1_HUMAN	K	745	ENSP00000418734:T745K	ENSP00000418734:T745K	T	-	2	0	MYSM1	58899702	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.629000	0.67798	2.672000	0.90937	0.460000	0.39030	ACA		0.373	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2		XM_055481		3	56	1	0	0.00909568	0.150653	0.00923144	3	56		
PTGFR	5737	broad.mit.edu	37	1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A	rs374752240		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:78958573G>A	ENST00000370757.3	+	2	382	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T|PTGFR_ENST00000370756.3_Missense_Mutation_p.A49T	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	49					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448																																						uc001din.2		NaN																	0				ovary(3)|breast(2)|skin(1)	6						c.(145-147)GCC>ACC		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						112.0	109.0	110.0					1																	78958573		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958573G>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.145G>A	1.37:g.78958573G>A	ENSP00000359793:p.Ala49Thr					PTGFR_uc001dim.2_Missense_Mutation_p.A49T	p.A49T	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	411	+			49			Helical; Name=1; (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.145G>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474678	0.63737	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.37584	1.19;1.19;1.19	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.321516	0.32952	N	0.005447	T	0.24044	0.0582	L	0.42245	1.32	0.44092	D	0.996858	P;D	0.62365	0.897;0.991	B;B	0.43082	0.251;0.407	T	0.01436	-1.1355	10	0.23891	T	0.37	-6.778	19.8864	0.96915	0.0:0.0:1.0:0.0	.	49;49	P43088;P43088-2	PF2R_HUMAN;.	T	49	ENSP00000359794:A49T;ENSP00000359793:A49T;ENSP00000359792:A49T	ENSP00000359792:A49T	A	+	1	0	PTGFR	78731161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.813000	0.69201	2.780000	0.95670	0.655000	0.94253	GCC		0.448	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1		NM_000959		61	49	0	0	0	0.139131	0	61	49		
S1PR1	1901	broad.mit.edu	37	1	101705632	101705632	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:101705632C>T	ENST00000305352.6	+	2	1467	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	364					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCCAGAAAGACGAAGGGGACA	0.547																																						uc001dud.2		NaN																	0				ovary(2)|lung(1)	3						c.(1090-1092)GAC>GAT		sphingosine-1-phosphate receptor 1							50.0	53.0	52.0					1																	101705632		2174	4252	6426	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705632C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.1092C>T	1.37:g.101705632C>T						S1PR1_uc009weg.2_Silent_p.D364D	p.D364D	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1606	+			364			Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.1092C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	5.097	0.203555	0.09704	.	.	ENSG00000170989	ENST00000424264	.	.	.	5.38	-0.639	0.11497	.	.	.	.	.	T	0.46908	0.1417	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51268	-0.8727	5	0.59425	D	0.04	.	7.8178	0.29269	0.0:0.3617:0.1184:0.5199	.	.	.	.	M	347	.	ENSP00000413066:T347M	T	+	2	0	S1PR1	101478220	0.951000	0.32395	0.988000	0.46212	0.894000	0.52154	0.034000	0.13776	-0.410000	0.07542	0.305000	0.20034	ACG		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1		NM_001400		29	55	0	0	0	0.163468	0	29	55		
SNX27	81609	broad.mit.edu	37	1	151640977	151640977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:151640977C>T	ENST00000458013.2	+	7	1135	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	SNX27_ENST00000368838.1_Missense_Mutation_p.H246Y|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368843.3_Missense_Mutation_p.H339Y			Q96L92	SNX27_HUMAN	sorting nexin family member 27	339	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTTTCCTCACAAACTCTA	0.363																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1015-1017)CAC>TAC		sorting nexin family member 27							118.0	118.0	118.0					1																	151640977		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151640977C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1015C>T	1.37:g.151640977C>T	ENSP00000400333:p.His339Tyr					SNX27_uc001eyo.2_Missense_Mutation_p.H246Y|SNX27_uc001eyp.2_Missense_Mutation_p.H153Y	p.H339Y	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1031	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		339			Ras-associating.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.1015C>T		.	.	.	.	.	.	.	.	.	.	C	20.6	4.022562	0.75275	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.16324	2.35;2.35;2.35	5.1	5.1	0.69264	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	M	0.77313	2.365	0.80722	D	1	P;D	0.89917	0.875;1.0	P;D	0.79108	0.46;0.992	T	0.04029	-1.0983	10	0.19147	T	0.46	.	17.2485	0.87035	0.0:1.0:0.0:0.0	.	339;339	Q96L92;Q96L92-3	SNX27_HUMAN;.	Y	339;339;246	ENSP00000400333:H339Y;ENSP00000357836:H339Y;ENSP00000357831:H246Y	ENSP00000357831:H246Y	H	+	1	0	SNX27	149907601	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.044000	0.76578	2.656000	0.90262	0.305000	0.20034	CAC		0.363	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3		NM_030918		25	185	0	0	0	0.163468	0	25	185		
HRNR	388697	broad.mit.edu	37	1	152188034	152188034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152188034C>G	ENST00000368801.2	-	3	6146	c.6071G>C	c.(6070-6072)gGa>gCa	p.G2024A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2024					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGATGACTGTCCTGATGCAGA	0.562																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(6070-6072)GGA>GCA		hornerin							429.0	604.0	544.0					1																	152188034		2163	4177	6340	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188034C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6071G>C	1.37:g.152188034C>G	ENSP00000357791:p.Gly2024Ala						p.G2024A	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6147	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2024			22.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6071G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.792	0.930885	0.18131	.	.	ENSG00000197915	ENST00000368801	T	0.11604	2.76	3.33	3.33	0.38152	.	.	.	.	.	T	0.10380	0.0254	L	0.48642	1.525	0.22446	N	0.999094	D	0.76494	0.999	D	0.69479	0.964	T	0.12553	-1.0543	9	0.11485	T	0.65	.	12.577	0.56369	0.0:1.0:0.0:0.0	.	2024	Q86YZ3	HORN_HUMAN	A	2024	ENSP00000357791:G2024A	ENSP00000357791:G2024A	G	-	2	0	HRNR	150454658	0.003000	0.15002	0.123000	0.21794	0.037000	0.13140	1.792000	0.38754	1.859000	0.53934	0.505000	0.49811	GGA		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		84	269	0	0	0	0.139131	0	84	269		
FLG	2312	broad.mit.edu	37	1	152277090	152277090	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152277090G>A	ENST00000368799.1	-	3	10307	c.10272C>T	c.(10270-10272)caC>caT	p.H3424H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3424	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACGCTGAGTGCCTGGAGC	0.597									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10270-10272)CAC>CAT		filaggrin							213.0	223.0	219.0					1																	152277090		2203	4297	6500	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277090G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10272C>T	1.37:g.152277090G>A							p.H3424H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10308	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3424			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10272C>T	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		249	349	0	0	0	0.139131	0	249	349		
FLG	2312	broad.mit.edu	37	1	152283897	152283897	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:152283897G>A	ENST00000368799.1	-	3	3500	c.3465C>T	c.(3463-3465)caC>caT	p.H1155H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1155	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGACGCTGAGTGCCTGGAGC	0.597									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3463-3465)CAC>CAT		filaggrin							220.0	267.0	251.0					1																	152283897		2203	4298	6501	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283897G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3465C>T	1.37:g.152283897G>A						uc001ezv.2_5'Flank	p.H1155H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3501	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1155			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3465C>T	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		15	616	0	0	0	0.139131	0	15	616		
MROH9	80133	broad.mit.edu	37	1	170961422	170961422	+	Silent	SNP	G	G	A	rs369203487		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:170961422G>A	ENST00000367758.3	+	12	1245	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	MROH9_ENST00000367759.4_Silent_p.T382T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	382																	ACACCGTAACGGAAGGGAAAC	0.473																																						uc001ghg.2		NaN																	0				pancreas(1)	1						c.(1144-1146)ACG>ACA		hypothetical protein LOC80133 isoform 2		G	,	0,3956		0,0,1978	157.0	161.0	160.0		1146,1146	-2.5	0.0	1		160	1,8283		0,1,4141	no	coding-synonymous,coding-synonymous	C1orf129	NM_001163629.1,NM_025063.2	,	0,1,6119	AA,AG,GG		0.0121,0.0,0.0082	,	382/862,382/574	170961422	1,12239	1978	4142	6120	SO:0001819	synonymous_variant	80133						binding	g.chr1:170961422G>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1146G>A	1.37:g.170961422G>A						C1orf129_uc009wvy.2_Silent_p.T189T|C1orf129_uc010plz.1_Silent_p.T382T	p.T382T	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			12	1276	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		382					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1146G>A	CCDS41436.1																																																																																				0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1		NM_025063		23	118	0	0	0	0.108266	0	23	118		
SYT14	255928	broad.mit.edu	37	1	210334177	210334177	+	Silent	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:210334177T>C	ENST00000472886.1	+	8	1472	c.1458T>C	c.(1456-1458)acT>acC	p.T486T	SYT14_ENST00000422431.1_Silent_p.T550T|SYT14_ENST00000367019.1_Silent_p.T505T|SYT14_ENST00000537238.1_Silent_p.T448T|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000534859.1_Silent_p.T512T|SYT14_ENST00000367015.1_Silent_p.T448T			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	486	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATAAGGAAACTTTTGTCTTTC	0.408																																						uc009xcv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1456-1458)ACT>ACC		synaptotagmin XIV isoform 4							126.0	132.0	130.0					1																	210334177		2203	4299	6502	SO:0001819	synonymous_variant	255928					integral to membrane		g.chr1:210334177T>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1458T>C	1.37:g.210334177T>C						SYT14_uc001hhs.3_Silent_p.T550T|SYT14_uc001hht.3_Silent_p.T505T|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.T531T|SYT14_uc010pso.1_Silent_p.T448T|SYT14_uc010psp.1_Silent_p.T24T	p.T486T	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1530	+			486			Cytoplasmic (Potential).|C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	c.1458T>C	CCDS31014.1																																																																																				0.408	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1		NM_153262		73	12	0	0	0	0.139131	0	73	12		
KLF6	1316	broad.mit.edu	37	10	3823885	3823885	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:3823885C>T	ENST00000497571.1	-	2	884	c.624G>A	c.(622-624)agG>agA	p.R208R	KLF6_ENST00000542957.1_Silent_p.R208R|KLF6_ENST00000469435.1_Silent_p.R208R|KLF6_ENST00000173785.4_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	208					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGTAAACTTTCCTGCAGCCGT	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NaN																	0				central_nervous_system(3)|lung(1)	4						c.(622-624)AGG>AGA		Kruppel-like factor 6 isoform A							65.0	55.0	58.0					10																	3823885		2203	4300	6503	SO:0001819	synonymous_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3823885C>T	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.624G>A	10.37:g.3823885C>T			OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Silent_p.R208R|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Silent_p.R208R	p.R208R	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	891	-			208			C2H2-type 1.		B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	ENST00000497571.1	37	c.624G>A	CCDS7060.1																																																																																				0.657	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1				4	56	0	0	0	0.150653	0	4	56		
KLF6	1316	broad.mit.edu	37	10	3824277	3824277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:3824277C>A	ENST00000497571.1	-	2	492	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	KLF6_ENST00000542957.1_Nonsense_Mutation_p.E78*|KLF6_ENST00000469435.1_Nonsense_Mutation_p.E78*|KLF6_ENST00000173785.4_5'Flank	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	78					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		ATCTTCAGTTCGGATTCCTCC	0.483											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NaN																	0				central_nervous_system(3)|lung(1)	4						c.(232-234)GAA>TAA		Kruppel-like factor 6 isoform A							132.0	141.0	138.0					10																	3824277		2203	4300	6503	SO:0001587	stop_gained	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824277C>A	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.232G>T	10.37:g.3824277C>A	ENSP00000419923:p.Glu78*		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Nonsense_Mutation_p.E78*|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Nonsense_Mutation_p.E78*|KLF6_uc001ihb.2_Nonsense_Mutation_p.E78*	p.E78*	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	499	-			78					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Nonsense_Mutation	SNP	ENST00000497571.1	37	c.232G>T	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	36	5.924317	0.97110	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	.	.	.	4.91	4.91	0.64330	.	0.156448	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.109	0.86670	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000419079:E78X	E	-	1	0	KLF6	3814277	1.000000	0.71417	0.552000	0.28243	0.681000	0.39784	5.943000	0.70211	2.257000	0.74773	0.561000	0.74099	GAA		0.483	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1				23	159	1	0	0.00278032	0.076483	0.00288644	23	159		
ERCC6	2074	broad.mit.edu	37	10	50669504	50669504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:50669504C>T	ENST00000355832.5	-	19	3955	c.3877G>A	c.(3877-3879)Gcc>Acc	p.A1293T	ERCC6_ENST00000542458.1_Missense_Mutation_p.A663T|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1293					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTTTCAGGGCATCCTGGGCC	0.592								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(3877-3879)GCC>ACC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							87.0	71.0	76.0					10																	50669504		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50669504C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3877G>A	10.37:g.50669504C>T	ENSP00000348089:p.Ala1293Thr					ERCC6_uc009xod.2_Missense_Mutation_p.A453T|ERCC6_uc010qgr.1_Missense_Mutation_p.A663T|ERCC6_uc001jhr.3_Missense_Mutation_p.A661T	p.A1293T	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			19	4031	-			1293					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3877G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513100	0.96402	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.91577	-2.87;-2.4	5.2	5.2	0.72013	.	.	.	.	.	D	0.96340	0.8806	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97078	0.9782	9	0.87932	D	0	-8.5736	17.2853	0.87139	0.0:1.0:0.0:0.0	.	1293;670	Q03468;Q59FF6	ERCC6_HUMAN;.	T	1293;670;663	ENSP00000348089:A1293T;ENSP00000445134:A663T	ENSP00000348089:A1293T	A	-	1	0	ERCC6	50339510	1.000000	0.71417	0.922000	0.36590	0.979000	0.70002	7.568000	0.82369	2.578000	0.87016	0.655000	0.94253	GCC		0.592	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		21	28	0	0	0	0.069288	0	21	28		
SH2D4B	387694	broad.mit.edu	37	10	82403797	82403797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:82403797G>A	ENST00000470604.2	+	8	1252	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	SH2D4B_ENST00000339284.2_Missense_Mutation_p.R345Q|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R297Q|SH2D4B_ENST00000372150.3_3'UTR			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	418										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAACCCTGCGGACAGAGGGA	0.373																																						uc001kck.1		NaN																	0					0						c.(1033-1035)CGG>CAG		SH2 domain containing 4B isoform 1							108.0	108.0	108.0					10																	82403797		2203	4300	6503	SO:0001583	missense	387694							g.chr10:82403797G>A		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1252G>A	10.37:g.82403797G>A	ENSP00000417953:p.Gly418Arg					SH2D4B_uc001kcl.1_Missense_Mutation_p.R297Q|SH2D4B_uc001kcm.1_Missense_Mutation_p.G166R|SH2D4B_uc001kcn.1_RNA	p.R345Q	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		7	1464	+			Error:Variant_position_missing_in_Q5SQS7_after_alignment					Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.1034G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.75|17.75	3.467171|3.467171	0.63625|0.63625	.|.	.|.	ENSG00000178217|ENSG00000178217	ENST00000470604|ENST00000339284;ENST00000313455	T|T;T	0.38240|0.13901	1.15|2.62;2.55	5.05|5.05	5.05|5.05	0.67936|0.67936	SH2 motif (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.14056|0.14056	0.0340|0.0340	.|.	.|.	.|.	0.25291|0.25291	N|N	0.989358|0.989358	D|B;B	0.61697|0.12630	0.99|0.006;0.002	P|B;B	0.50825|0.09377	0.651|0.004;0.002	T|T	0.11941|0.11941	-1.0567|-1.0567	9|8	0.49607|0.66056	T|D	0.09|0.02	-21.6861|-21.6861	16.2592|16.2592	0.82532|0.82532	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	418|297;345	Q5SQS7|Q5SQS7-3;Q5SQS7-2	SH24B_HUMAN|.;.	R|Q	418|345;297	ENSP00000417953:G418R|ENSP00000345295:R345Q;ENSP00000314242:R297Q	ENSP00000417953:G418R|ENSP00000314242:R297Q	G|R	+|+	1|2	0|0	SH2D4B|SH2D4B	82393777|82393777	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	5.379000|5.379000	0.66196|0.66196	2.510000|2.510000	0.84645|0.84645	0.591000|0.591000	0.81541|0.81541	GGA|CGG		0.373	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_351984		14	59	0	0	0	0.062417	0	14	59		
NRG3	10718	broad.mit.edu	37	10	84498404	84498404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:84498404C>T	ENST00000404547.1	+	3	1025	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	NRG3_ENST00000372142.2_Missense_Mutation_p.P121L|NRG3_ENST00000372141.2_Missense_Mutation_p.P342L|NRG3_ENST00000556918.1_Missense_Mutation_p.P172L|NRG3_ENST00000404576.2_Missense_Mutation_p.P146L			P56975	NRG3_HUMAN	neuregulin 3	342					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTATCGGATCCAAGTAGGTCA	0.393																																						uc001kco.2		NaN																	0				lung(5)|breast(1)	6						c.(1024-1026)CCA>CTA		neuregulin 3 isoform 1							139.0	123.0	129.0					10																	84498404		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84498404C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1025C>T	10.37:g.84498404C>T	ENSP00000384796:p.Pro342Leu					NRG3_uc010qlz.1_Missense_Mutation_p.P342L|NRG3_uc001kcp.2_Missense_Mutation_p.P121L|NRG3_uc001kcq.2_5'UTR	p.P342L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	1052	+			342			Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1025C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463066	0.84425	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.45276	1.47;1.47;1.5;0.9;1.48	5.84	5.84	0.93424	.	0.107317	0.41500	D	0.000870	T	0.59293	0.2183	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.91635	0.945;0.999;0.999	T	0.54262	-0.8320	10	0.44086	T	0.13	-12.1593	17.6318	0.88111	0.0:1.0:0.0:0.0	.	342;121;342	B9EGV5;P56975-3;P56975-4	.;.;.	L	342;342;342;121;146;172	ENSP00000361214:P342L;ENSP00000384796:P342L;ENSP00000361215:P121L;ENSP00000385804:P146L;ENSP00000451376:P172L	ENSP00000361214:P342L	P	+	2	0	NRG3	84488384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.779000	0.95612	0.655000	0.94253	CCA		0.393	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1		XM_166086		4	44	0	0	0	0.014758	0	4	44		
PIK3AP1	118788	broad.mit.edu	37	10	98411088	98411088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:98411088G>C	ENST00000339364.5	-	6	1024	c.905C>G	c.(904-906)aCc>aGc	p.T302S	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T124S|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	302	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGGATTCGGTTAGCAGTTT	0.428																																						uc001kmq.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(904-906)ACC>AGC		phosphoinositide-3-kinase adaptor protein 1							190.0	189.0	190.0					10																	98411088		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411088G>C	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.905C>G	10.37:g.98411088G>C	ENSP00000339826:p.Thr302Ser					PIK3AP1_uc001kmp.2_Missense_Mutation_p.T124S	p.T302S	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	6	1033	-		Colorectal(252;0.0442)	302			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.905C>G	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653663	0.67472	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.18960	2.85;2.18	5.85	5.85	0.93711	DBB domain (1);	0.048158	0.85682	D	0.000000	T	0.40979	0.1139	L	0.59436	1.845	0.80722	D	1	D	0.55385	0.971	P	0.57679	0.825	T	0.06215	-1.0839	10	0.62326	D	0.03	-19.1331	19.1516	0.93491	0.0:0.0:1.0:0.0	.	302	Q6ZUJ8	BCAP_HUMAN	S	302;124	ENSP00000339826:T302S;ENSP00000360151:T124S	ENSP00000339826:T302S	T	-	2	0	PIK3AP1	98401078	1.000000	0.71417	0.120000	0.21714	0.900000	0.52787	7.888000	0.87302	2.773000	0.95371	0.655000	0.94253	ACC		0.428	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2		NM_152309		16	36	0	0	0	0.160694	0	16	36		
RRP12	23223	broad.mit.edu	37	10	99133483	99133483	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr10:99133483G>A	ENST00000370992.4	-	17	1986	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L	RRP12_ENST00000414986.1_Silent_p.L564L|RRP12_ENST00000479481.1_5'Flank|RRP12_ENST00000536831.1_Silent_p.L343L|RRP12_ENST00000315563.6_Silent_p.L525L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	625						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACCCAGGCAGGAGTGTCCACA	0.622																																						uc001knf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1873-1875)CTC>CTT		ribosomal RNA processing 12 homolog isoform 1							85.0	73.0	77.0					10																	99133483		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99133483G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1875C>T	10.37:g.99133483G>A						RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Silent_p.L343L|RRP12_uc010qou.1_Silent_p.L564L|RRP12_uc009xvn.2_Silent_p.L525L	p.L625L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	17	2014	-		Colorectal(252;0.162)	625					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.1875C>T	CCDS7457.1																																																																																				0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179		34	12	0	0	0	0.080422	0	34	12		
OR9Q2	219957	broad.mit.edu	37	11	57958327	57958327	+	Missense_Mutation	SNP	G	G	A	rs560592347		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:57958327G>A	ENST00000311591.3	+	1	422	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCCTATGACCGCTACACGGCC	0.567																																						uc010rka.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(364-366)CGC>CAC		olfactory receptor, family 9, subfamily Q,							138.0	116.0	123.0					11																	57958327		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958327G>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.365G>A	11.37:g.57958327G>A	ENSP00000308714:p.Arg122His						p.R122H	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	365	+		Breast(21;0.0589)	122			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.365G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229838	0.79688	.	.	ENSG00000186513	ENST00000311591	T	0.77489	-1.1	5.54	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000164	D	0.86401	0.5924	M	0.86268	2.805	0.40752	D	0.982926	D	0.89917	1.0	D	0.63488	0.915	D	0.88018	0.2767	10	0.66056	D	0.02	-17.3383	10.3228	0.43775	0.0738:0.1353:0.7909:0.0	.	122	Q8NGE9	OR9Q2_HUMAN	H	122	ENSP00000308714:R122H	ENSP00000308714:R122H	R	+	2	0	OR9Q2	57714903	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	5.662000	0.68032	1.486000	0.48398	0.655000	0.94253	CGC		0.567	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1		NM_001005283		45	88	0	0	0	0.139131	0	45	88		
MPEG1	219972	broad.mit.edu	37	11	58980208	58980208	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:58980208T>C	ENST00000361050.3	-	1	216	c.131A>G	c.(130-132)gAa>gGa	p.E44G	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	44	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGGTAGGACTTCCAGGACAGG	0.522																																						uc001nnu.3		NaN																	0				ovary(1)|skin(1)	2						c.(130-132)GAA>GGA		macrophage expressed gene 1 precursor							149.0	150.0	150.0					11																	58980208		1999	4158	6157	SO:0001583	missense	219972					integral to membrane		g.chr11:58980208T>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.131A>G	11.37:g.58980208T>C	ENSP00000354335:p.Glu44Gly						p.E44G	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	287	-		all_epithelial(135;0.125)	44			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.131A>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.882313	0.51908	.	.	ENSG00000197629	ENST00000361050;ENST00000545098	T	0.29142	1.58	5.52	3.2	0.36748	Membrane attack complex component/perforin (MACPF) domain (1);	0.125201	0.53938	D	0.000059	T	0.29524	0.0736	M	0.66939	2.045	0.41969	D	0.990741	B	0.26876	0.162	B	0.28465	0.09	T	0.06679	-1.0813	10	0.45353	T	0.12	-14.2887	6.5192	0.22264	0.0:0.0814:0.1672:0.7514	.	44	Q2M385	MPEG1_HUMAN	G	44	ENSP00000354335:E44G	ENSP00000354335:E44G	E	-	2	0	MPEG1	58736784	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.523000	0.60545	0.406000	0.25560	0.524000	0.50904	GAA		0.522	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1		NM_001039396		5	244	0	0	0	0.014758	0	5	244		
SCGB1D1	10648	broad.mit.edu	37	11	61959667	61959667	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:61959667C>T	ENST00000306238.3	+	2	264	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	65						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)	p.C65C(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TGAAGAAATGCGTGGATACGA	0.443																																						uc001nsz.1		NaN																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(193-195)TGC>TGT		lipophilin A precursor							159.0	152.0	155.0					11																	61959667		2202	4299	6501	SO:0001819	synonymous_variant	10648					extracellular space	binding	g.chr11:61959667C>T	AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.195C>T	11.37:g.61959667C>T							p.C65C	NM_006552	NP_006543	O95968	SG1D1_HUMAN			2	242	+			65						Silent	SNP	ENST00000306238.3	37	c.195C>T	CCDS8015.1																																																																																				0.443	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1		NM_006552		83	65	0	0	0	0.139131	0	83	65		
GANAB	23193	broad.mit.edu	37	11	62393905	62393905	+	Silent	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:62393905T>A	ENST00000356638.3	-	22	2542	c.2526A>T	c.(2524-2526)ggA>ggT	p.G842G	GANAB_ENST00000346178.4_Silent_p.G864G|GANAB_ENST00000534779.1_Silent_p.G750G|GANAB_ENST00000540933.1_Silent_p.G745G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	842					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GAAAGAGCTCTCCTTGAGCTG	0.552																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2524-2526)GGA>GGT		neutral alpha-glucosidase AB isoform 2							108.0	97.0	100.0					11																	62393905		2202	4299	6501	SO:0001819	synonymous_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62393905T>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2526A>T	11.37:g.62393905T>A						GANAB_uc001ntz.2_Silent_p.G29G|GANAB_uc001nua.2_Silent_p.G864G|GANAB_uc001nuc.2_Silent_p.G745G|GANAB_uc010rma.1_Silent_p.G750G|GANAB_uc010rmb.1_Silent_p.G728G	p.G842G	NM_198334	NP_938148	Q14697	GANAB_HUMAN			22	2559	-			842					A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	c.2526A>T	CCDS8026.1																																																																																				0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1		NM_198334		29	79	0	0	0	0.074837	0	29	79		
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	A	rs575846795		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:64033975C>A	ENST00000540288.1	+	29	3468	c.3365C>A	c.(3364-3366)aCg>aAg	p.T1122K	PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122K|PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGAACTGACGGAGATTAAC	0.652																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(3364-3366)ACG>AAG		phospholipase C beta 3							103.0	94.0	97.0					11																	64033975		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033975C>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3365C>A	11.37:g.64033975C>A	ENSP00000443631:p.Thr1122Lys					PLCB3_uc009ypg.1_Missense_Mutation_p.T1122K|PLCB3_uc009yph.1_Missense_Mutation_p.T1055K|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122K	p.T1122K	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			29	3365	+			1122					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3365C>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	7.857	0.725238	0.15439	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.39592	1.07;1.07;1.07	4.83	3.87	0.44632	PLC-beta, C-terminal (1);	0.366938	0.29152	N	0.012997	T	0.54431	0.1858	L	0.53249	1.67	0.44985	D	0.998004	D;B	0.61697	0.99;0.254	P;B	0.62382	0.901;0.349	T	0.51140	-0.8743	10	0.37606	T	0.19	.	14.1436	0.65336	0.0:0.8493:0.1507:0.0	.	1055;1122	G5E960;Q01970	.;PLCB3_HUMAN	K	1122;1122;1055	ENSP00000279230:T1122K;ENSP00000443631:T1122K;ENSP00000324660:T1055K	ENSP00000279230:T1122K	T	+	2	0	PLCB3	63790551	0.956000	0.32656	0.989000	0.46669	0.970000	0.65996	2.132000	0.42083	2.523000	0.85059	0.555000	0.69702	ACG		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				20	90	1	0	6.21321e-17	0.076483	7.10081e-17	20	90		
KDELC2	143888	broad.mit.edu	37	11	108357060	108357060	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr11:108357060A>G	ENST00000323468.5	-	3	573	c.508T>C	c.(508-510)Ttt>Ctt	p.F170L	KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000375648.1_Missense_Mutation_p.F114L|KDELC2_ENST00000434945.2_Missense_Mutation_p.F114L	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	170						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATGCTGGGAAAGGAAGCAAAA	0.453																																						uc001pkj.2		NaN																	0				ovary(1)	1						c.(508-510)TTT>CTT		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							159.0	145.0	149.0					11																	108357060		1872	4104	5976	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108357060A>G	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.508T>C	11.37:g.108357060A>G	ENSP00000315386:p.Phe170Leu					KDELC2_uc001pki.2_Missense_Mutation_p.F114L	p.F170L	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	3	574	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	170					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.508T>C	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829591	0.91036	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.26660	1.72;1.72;1.72	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.74258	2.255	0.80722	D	1	D;P	0.60575	0.988;0.911	P;P	0.61722	0.893;0.646	T	0.53099	-0.8486	10	0.72032	D	0.01	-36.3708	15.1841	0.72986	1.0:0.0:0.0:0.0	.	170;114	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	L	170;114;114	ENSP00000315386:F170L;ENSP00000413429:F114L;ENSP00000364799:F114L	ENSP00000315386:F170L	F	-	1	0	KDELC2	107862270	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.705000	0.91357	2.315000	0.78130	0.533000	0.62120	TTT		0.453	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1		NM_153705		4	63	0	0	0	0.150653	0	4	63		
ACRBP	84519	broad.mit.edu	37	12	6756060	6756060	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:6756060C>A	ENST00000229243.2	-	2	255	c.162G>T	c.(160-162)tgG>tgT	p.W54C	ACRBP_ENST00000414226.2_Missense_Mutation_p.W54C|ACRBP_ENST00000536350.1_Missense_Mutation_p.W54C	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TCTCTGCCTTCCAGGTTGGAG	0.602																																						uc001qpu.1		NaN																	0				central_nervous_system(1)	1						c.(160-162)TGG>TGT		proacrosin binding protein sp32 precursor							101.0	94.0	96.0					12																	6756060		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6756060C>A	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.162G>T	12.37:g.6756060C>A	ENSP00000229243:p.Trp54Cys					ACRBP_uc010sfg.1_Missense_Mutation_p.W54C	p.W54C	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			2	210	-			54						Missense_Mutation	SNP	ENST00000229243.2	37	c.162G>T	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010662	0.75046	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350;ENST00000546114	T;T	0.50277	0.75;0.77	4.59	4.59	0.56863	.	0.000000	0.53938	D	0.000050	T	0.67458	0.2895	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.71580	-0.4550	10	0.72032	D	0.01	-4.7564	15.3414	0.74300	0.0:1.0:0.0:0.0	.	54;54	E7EP66;Q8NEB7	.;ACRBP_HUMAN	C	54	ENSP00000229243:W54C;ENSP00000402725:W54C	ENSP00000229243:W54C	W	-	3	0	ACRBP	6626321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.087000	0.57671	2.356000	0.79943	0.549000	0.68633	TGG		0.602	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1		NM_032489		4	78	1	0	0.00909568	0.150653	0.00923144	4	78		
LMNTD1	160492	broad.mit.edu	37	12	25672949	25672949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:25672949C>T	ENST00000282881.6	-	6	945	c.796G>A	c.(796-798)Gtt>Att	p.V266I	IFLTD1_ENST00000458174.2_Missense_Mutation_p.V287I|IFLTD1_ENST00000413632.2_Missense_Mutation_p.V247I|IFLTD1_ENST00000445693.1_Missense_Mutation_p.V203I|IFLTD1_ENST00000539744.1_Missense_Mutation_p.V169I	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		266					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTAAATTCAACGTCAGCATCT	0.383																																						uc001rgs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(796-798)GTT>ATT		intermediate filament tail domain containing 1							133.0	116.0	122.0					12																	25672949		2203	4300	6503	SO:0001583	missense	160492					intermediate filament	structural molecule activity	g.chr12:25672949C>T																												ENST00000282881.6:c.796G>A	12.37:g.25672949C>T	ENSP00000282881:p.Val266Ile					IFLTD1_uc001rgt.1_Missense_Mutation_p.V169I|IFLTD1_uc010sji.1_Missense_Mutation_p.V287I|IFLTD1_uc010sjj.1_Missense_Mutation_p.V203I|IFLTD1_uc009zjc.2_Missense_Mutation_p.V247I	p.V266I	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN			6	946	-	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)		266					B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	ENST00000282881.6	37	c.796G>A	CCDS8704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	1.782|1.782	-0.481648|-0.481648	0.04383|0.04383	.|.	.|.	ENSG00000152936|ENSG00000152936	ENST00000543629|ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000545543	.|T;T;T;T;T;T	.|0.12774	.|2.91;2.89;2.93;2.87;2.67;2.65	5.05|5.05	2.71|2.71	0.32032|0.32032	.|.	.|.	.|.	.|.	.|.	T|T	0.03520|0.03520	0.0101|0.0101	N|N	0.01168|0.01168	-0.975|-0.975	0.19775|0.19775	N|N	0.99995|0.99995	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0	T|T	0.43163|0.43163	-0.9408|-0.9408	5|9	.|0.02654	.|T	.|1	0.5448|0.5448	6.539|6.539	0.22370|0.22370	0.0:0.1902:0.0:0.8098|0.0:0.1902:0.0:0.8098	.|.	.|203;287;247;266	.|Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.|.;.;.;ILFT1_HUMAN	H|I	40|266;169;287;203;247;96	.|ENSP00000282881:V266I;ENSP00000443132:V169I;ENSP00000407353:V287I;ENSP00000407043:V203I;ENSP00000393150:V247I;ENSP00000443596:V96I	.|ENSP00000282881:V266I	R|V	-|-	2|1	0|0	IFLTD1|IFLTD1	25564216|25564216	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.800000|0.800000	0.45204|0.45204	0.598000|0.598000	0.24074|0.24074	0.411000|0.411000	0.25702|0.25702	-0.385000|-0.385000	0.06624|0.06624	CGT|GTT		0.383	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402279.1				29	34	0	0	0	0.153744	0	29	34		
PTHLH	5744	broad.mit.edu	37	12	28116292	28116292	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:28116292C>T	ENST00000545234.1	-	5	1053	c.513G>A	c.(511-513)gaG>gaA	p.E171E	PTHLH_ENST00000539239.1_Silent_p.E171E|PTHLH_ENST00000354417.3_Silent_p.E171E|PTHLH_ENST00000535992.1_Silent_p.E171E|PTHLH_ENST00000395872.1_Silent_p.E171E|PTHLH_ENST00000538310.1_Silent_p.E171E|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Silent_p.E171E|PTHLH_ENST00000201015.4_Silent_p.E171E			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	171					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTGAATCGAGCTCCAGCGACG	0.582																																						uc001rik.2		NaN																	0				breast(1)	1						c.(511-513)GAG>GAA		parathyroid hormone-like hormone isoform 1							91.0	76.0	81.0					12																	28116292		2203	4300	6503	SO:0001819	synonymous_variant	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116292C>T		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.513G>A	12.37:g.28116292C>T						PTHLH_uc001ril.2_Silent_p.E171E|PTHLH_uc001rim.2_Silent_p.E171E|PTHLH_uc001rin.2_Silent_p.E171E	p.E171E	NM_198966	NP_945317	P12272	PTHR_HUMAN			3	816	-	Lung SC(9;0.184)		171					Q15251|Q6FH74	Silent	SNP	ENST00000545234.1	37	c.513G>A	CCDS44853.1																																																																																				0.582	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1		NM_198965		17	33	0	0	0	0.069288	0	17	33		
KMT2D	8085	broad.mit.edu	37	12	49424741	49424741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:49424741G>A	ENST00000301067.7	-	40	13605	c.13606C>T	c.(13606-13608)Cga>Tga	p.R4536*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4536					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4536*(2)|p.R4266*(2)									AGCTTCTTTCGGGAGCTCACC	0.592																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		4	Substitution - Nonsense(4)		haematopoietic_and_lymphoid_tissue(4)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13606-13608)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							53.0	57.0	56.0					12																	49424741		2059	4201	6260	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49424741G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13606C>T	12.37:g.49424741G>A	ENSP00000301067:p.Arg4536*	HNSCC(34;0.089)					p.R4536*	NM_003482	NP_003473	O14686	MLL2_HUMAN			40	13606	-			4536					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.13606C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	54	22.114846	0.99946	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.34	2.31	0.28768	.	0.000000	0.31438	N	0.007649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.4755	0.61306	0.0:0.0:0.5922:0.4078	.	.	.	.	X	4536	.	ENSP00000301067:R4536X	R	-	1	2	MLL2	47711008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.909000	0.56363	0.262000	0.21774	0.561000	0.74099	CGA		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				7	25	0	0	0	0.058154	0	7	25		
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:62148677G>A	ENST00000416284.3	-	3	1819	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_ENST00000551619.1_Nonsense_Mutation_p.R79*|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502																																						uc001sqw.2		NaN																	0				ovary(1)	1						c.(235-237)CGA>TGA		family with sequence similarity 19 (chemokine							172.0	117.0	136.0					12																	62148677		2203	4300	6503	SO:0001587	stop_gained	338811					cytoplasm		g.chr12:62148677G>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.235C>T	12.37:g.62148677G>A	ENSP00000393987:p.Arg79*					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.2_RNA	p.R79*	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1748	-			79					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Nonsense_Mutation	SNP	ENST00000416284.3	37	c.235C>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462806	0.63513	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	4.3	0.51218	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8801	0.58012	0.0:0.0:0.7043:0.2957	.	.	.	.	X	79;79;80;86;80	.	.	R	-	1	2	FAM19A2	60434944	0.713000	0.27926	0.819000	0.32651	0.502000	0.33828	0.937000	0.28951	1.172000	0.42781	0.558000	0.71614	CGA		0.502	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2		NM_178539		25	17	0	0	0	0.153744	0	25	17		
POLR3B	55703	broad.mit.edu	37	12	106824210	106824210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:106824210C>A	ENST00000228347.4	+	14	1645	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K	POLR3B_ENST00000539066.1_Missense_Mutation_p.Q417K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	475					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGCCATCTCAGTGGGGAAT	0.493																																						uc001tlp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1423-1425)CAG>AAG		DNA-directed RNA polymerase III B isoform 1							103.0	95.0	98.0					12																	106824210		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106824210C>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1423C>A	12.37:g.106824210C>A	ENSP00000228347:p.Gln475Lys					POLR3B_uc001tlq.2_Missense_Mutation_p.Q417K	p.Q475K	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			14	1645	+			475					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1423C>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374992	0.95923	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.77750	-1.12;-1.12	5.56	5.56	0.83823	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.92140	0.7508	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.93858	0.7151	10	0.66056	D	0.02	-16.684	19.5257	0.95206	0.0:1.0:0.0:0.0	.	475	Q9NW08	RPC2_HUMAN	K	475;475;417	ENSP00000228347:Q475K;ENSP00000445721:Q417K	ENSP00000228347:Q475K	Q	+	1	0	POLR3B	105348340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.589000	0.87451	0.655000	0.94253	CAG		0.493	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082		4	114	1	0	2.7689e-08	0.02938	3.01256e-08	4	114		
CUX2	23316	broad.mit.edu	37	12	111786052	111786052	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:111786052A>G	ENST00000261726.6	+	22	4538	c.4384A>G	c.(4384-4386)Atg>Gtg	p.M1462V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1462					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCATGAGAAGATGGCCAATCT	0.612																																						uc001tsa.1		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(4384-4386)ATG>GTG		cut-like 2							82.0	91.0	88.0					12																	111786052		2005	4158	6163	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111786052A>G	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4384A>G	12.37:g.111786052A>G	ENSP00000261726:p.Met1462Val						p.M1462V	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	4537	+			1462					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4384A>G	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046126	0.55110	.	.	ENSG00000111249	ENST00000261726	T	0.48201	0.82	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	M	0.63428	1.95	0.51767	D	0.999932	P	0.47762	0.9	P	0.47299	0.543	T	0.54043	-0.8352	10	0.39692	T	0.17	-31.2933	15.0071	0.71522	1.0:0.0:0.0:0.0	.	1462	O14529	CUX2_HUMAN	V	1462	ENSP00000261726:M1462V	ENSP00000261726:M1462V	M	+	1	0	CUX2	110270435	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	6.378000	0.73150	2.030000	0.59900	0.533000	0.62120	ATG		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		NM_015267		39	220	0	0	0	0.131918	0	39	220		
DNAH10	196385	broad.mit.edu	37	12	124354930	124354930	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:124354930T>C	ENST00000409039.3	+	43	7208	c.7183T>C	c.(7183-7185)Tat>Cat	p.Y2395H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2395					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCAACCTTGTATGACTTTCA	0.388																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(7183-7185)TAT>CAT		dynein, axonemal, heavy chain 10							88.0	85.0	86.0					12																	124354930		1897	4119	6016	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124354930T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7183T>C	12.37:g.124354930T>C	ENSP00000386770:p.Tyr2395His						p.Y2395H	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	43	7208	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2395					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.7183T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455806	0.43634	.	.	ENSG00000197653	ENST00000409039	T	0.25579	1.79	5.21	4.05	0.47172	.	0.599517	0.12162	U	0.493915	T	0.52273	0.1724	M	0.89840	3.065	0.44660	D	0.997647	P	0.46578	0.88	P	0.55087	0.768	T	0.52837	-0.8522	10	0.62326	D	0.03	.	11.3909	0.49813	0.1356:0.0:0.0:0.8643	.	2395	Q8IVF4	DYH10_HUMAN	H	2395	ENSP00000386770:Y2395H	ENSP00000386770:Y2395H	Y	+	1	0	DNAH10	122920883	1.000000	0.71417	0.907000	0.35723	0.015000	0.08874	7.994000	0.88315	0.809000	0.34255	-0.333000	0.08304	TAT		0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				20	21	0	0	0	0.049695	0	20	21		
POLR1D	51082	broad.mit.edu	37	13	28197152	28197152	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:28197152G>C	ENST00000302979.3	+	3	1189	c.167G>C	c.(166-168)cGt>cCt	p.R56P	POLR1D_ENST00000399697.3_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.R56P|POLR1D_ENST00000465887.1_Intron|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	56			R -> C (in TCS2). {ECO:0000269|PubMed:21131976}.		gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R56H(1)		endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		AATTCTCTACGTTACATGATC	0.453																																						uc010tdm.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(166-168)CGT>CCT		polymerase (RNA) I polypeptide D isoform 1							106.0	105.0	105.0					13																	28197152		2203	4300	6503	SO:0001583	missense	51082				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr13:28197152G>C	AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.167G>C	13.37:g.28197152G>C	ENSP00000302478:p.Arg56Pro					LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.R56P|POLR1D_uc001urp.2_Intron	p.R56P	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)	3	1197	+		Lung SC(185;0.0161)	56		R -> C (in TCS2).			Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000302979.3	37	c.167G>C	CCDS9325.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713113	0.68730	.	.	ENSG00000186184	ENST00000302979;ENST00000399696	D;D	0.94232	-3.38;-3.38	4.42	2.67	0.31697	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);DNA-directed RNA polymerase Rpb11, 13-16kDa subunit, conserved site (1);	.	.	.	.	D	0.97087	0.9048	H	0.96547	3.84	0.41446	D	0.987957	D	0.89917	1.0	D	0.97110	1.0	D	0.95635	0.8693	9	0.87932	D	0	-7.0669	6.3488	0.21365	0.0987:0.1846:0.7167:0.0	.	56	Q9Y2S0	RPAC2_HUMAN	P	56	ENSP00000302478:R56P;ENSP00000382603:R56P	ENSP00000302478:R56P	R	+	2	0	POLR1D	27095152	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.223000	0.78033	0.801000	0.34066	0.650000	0.86243	CGT		0.453	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044305.1		NM_015972, NM_152705		17	52	0	0	0	0.049695	0	17	52		
SLC7A1	6541	broad.mit.edu	37	13	30091860	30091860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:30091860C>T	ENST00000380752.5	-	10	1746	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	454					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCATTTTGGTCTGCTGGATCT	0.493																																						uc001uso.2		NaN																	0					0						c.(1360-1362)GAC>AAC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						129.0	126.0	127.0					13																	30091860		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091860C>T	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1360G>A	13.37:g.30091860C>T	ENSP00000370128:p.Asp454Asn						p.D454N	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	10	1747	-		Lung SC(185;0.0257)|Breast(139;0.238)	454			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1360G>A	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438075	0.25900	.	.	ENSG00000139514	ENST00000380752	D	0.86297	-2.1	5.24	4.39	0.52855	.	0.317880	0.37761	N	0.001946	T	0.81240	0.4781	L	0.36672	1.1	0.50313	D	0.999869	P	0.38020	0.615	B	0.35607	0.206	T	0.79591	-0.1740	10	0.33940	T	0.23	.	14.8072	0.69965	0.1448:0.8552:0.0:0.0	.	454	P30825	CTR1_HUMAN	N	454	ENSP00000370128:D454N	ENSP00000370128:D454N	D	-	1	0	SLC7A1	28989860	1.000000	0.71417	0.829000	0.32907	0.005000	0.04900	4.518000	0.60510	1.359000	0.45940	0.655000	0.94253	GAC		0.493	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045		24	85	0	0	0	0.108266	0	24	85		
BRCA2	675	broad.mit.edu	37	13	32910615	32910615	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:32910615C>A	ENST00000380152.3	+	11	2356	c.2123C>A	c.(2122-2124)tCt>tAt	p.S708Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.S708Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	708	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGCTGATTCTCTGTCATGC	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(2122-2124)TCT>TAT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							53.0	55.0	55.0					13																	32910615		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32910615C>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2123C>A	13.37:g.32910615C>A	ENSP00000369497:p.Ser708Tyr	TCGA Ovarian(8;0.087)					p.S708Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2350	+		Lung SC(185;0.0262)	708			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.2123C>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.723443	0.00092	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.61627	0.09;0.09	5.43	-3.16	0.05217	.	1.147120	0.06426	N	0.723172	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20405	-1.0276	10	0.02654	T	1	.	0.6082	0.00756	0.3055:0.2783:0.2468:0.1694	.	708	P51587	BRCA2_HUMAN	Y	708	ENSP00000369497:S708Y;ENSP00000439902:S708Y	ENSP00000369497:S708Y	S	+	2	0	BRCA2	31808615	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.284000	0.02793	-0.825000	0.04290	-0.467000	0.05162	TCT		0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		11	32	1	0	3.86212e-05	0.069234	4.1035e-05	11	32		
FGF14	2259	broad.mit.edu	37	13	103053996	103053996	+	Silent	SNP	A	A	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:103053996A>T	ENST00000376131.4	-	1	128	c.33T>A	c.(31-33)acT>acA	p.T11T	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTGAAATCAGTTCTCCTGA	0.413																																						uc001vpf.2		NaN																	0				ovary(2)|lung(1)|large_intestine(1)	4						c.(31-33)ACT>ACA		fibroblast growth factor 14 isoform 1B							52.0	52.0	52.0					13																	103053996		2203	4300	6503	SO:0001819	synonymous_variant	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:103053996A>T		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376131.4:c.33T>A	13.37:g.103053996A>T							p.T11T	NM_175929	NP_787125	Q92915	FGF14_HUMAN			1	129	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		Error:Variant_position_missing_in_Q92915_after_alignment					Q86YN7|Q96QX6	Silent	SNP	ENST00000376131.4	37	c.33T>A	CCDS9500.1																																																																																				0.413	FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5				30	3	0	0	0	0.074837	0	30	3		
PTGDR	5729	broad.mit.edu	37	14	52735003	52735003	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr14:52735003C>A	ENST00000306051.2	+	1	573	c.471C>A	c.(469-471)agC>agA	p.S157R	PTGDR_ENST00000553372.1_Missense_Mutation_p.S157R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	157					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.S157S(1)|p.S157R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGTGGTGAGCGCCTTCTCCC	0.637																																						uc001wzq.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(469-471)AGC>AGA		prostaglandin D2 receptor	Nedocromil(DB00716)						73.0	75.0	74.0					14																	52735003		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735003C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.471C>A	14.37:g.52735003C>A	ENSP00000303424:p.Ser157Arg						p.S157R	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	573	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		157			Helical; Name=4; (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.471C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744994	0.49151	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.71817	-0.6;-0.6	4.71	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.571711	0.16001	N	0.234302	T	0.59528	0.2200	N	0.08118	0	0.24823	N	0.992573	B	0.31680	0.335	P	0.45474	0.482	T	0.57394	-0.7819	10	0.62326	D	0.03	-7.401	8.257	0.31763	0.0:0.8029:0.0:0.1971	.	157	Q13258	PD2R_HUMAN	R	157	ENSP00000303424:S157R;ENSP00000452408:S157R	ENSP00000303424:S157R	S	+	3	2	PTGDR	51804753	0.000000	0.05858	0.999000	0.59377	0.976000	0.68499	-0.440000	0.06888	1.237000	0.43756	0.563000	0.77884	AGC		0.637	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1		NM_000953		3	55	1	0	0.00024832	0.150653	0.000259781	3	55		
AHNAK2	113146	broad.mit.edu	37	14	105416701	105416701	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr14:105416701G>T	ENST00000333244.5	-	7	5206	c.5087C>A	c.(5086-5088)tCc>tAc	p.S1696Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1696						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.612																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(5086-5088)TCC>TAC		AHNAK nucleoprotein 2							142.0	161.0	155.0					14																	105416701		1948	4104	6052	SO:0001583	missense	113146					nucleus		g.chr14:105416701G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5087C>A	14.37:g.105416701G>T	ENSP00000353114:p.Ser1696Tyr					AHNAK2_uc001ypx.2_Missense_Mutation_p.S1596Y	p.S1696Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5207	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1696					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5087C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.62	2.290186	0.40494	.	.	ENSG00000185567	ENST00000333244	T	0.00745	5.75	3.97	3.06	0.35304	.	.	.	.	.	T	0.04724	0.0128	M	0.86420	2.815	0.09310	N	1	D	0.69078	0.997	D	0.77004	0.989	T	0.11641	-1.0579	9	0.66056	D	0.02	-5.8692	10.1482	0.42778	0.0:0.0:0.8009:0.1991	.	1696	Q8IVF2	AHNK2_HUMAN	Y	1696	ENSP00000353114:S1696Y	ENSP00000353114:S1696Y	S	-	2	0	AHNAK2	104487746	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	0.011000	0.13264	0.622000	0.30249	0.430000	0.28490	TCC		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		7	272	1	0	6.72482e-11	0.132662	7.55848e-11	7	272		
OCA2	4948	broad.mit.edu	37	15	28231744	28231744	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:28231744A>G	ENST00000354638.3	-	12	1383	c.1228T>C	c.(1228-1230)Tgt>Cgt	p.C410R	OCA2_ENST00000353809.5_Missense_Mutation_p.C386R|OCA2_ENST00000382996.2_Missense_Mutation_p.C410R	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	410					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTACAGCACAATAATCGAAA	0.284									Oculocutaneous Albinism																													uc001zbh.3		NaN																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(1228-1230)TGT>CGT		oculocutaneous albinism II							99.0	105.0	103.0					15																	28231744		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28231744A>G		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1228T>C	15.37:g.28231744A>G	ENSP00000346659:p.Cys410Arg					OCA2_uc010ayv.2_Missense_Mutation_p.C386R	p.C410R	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	12	1338	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	410			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1228T>C	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719252	0.68844	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91237	-2.81;-2.81;-2.81	5.57	5.57	0.84162	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.67725	0.935;0.953	D	0.93715	0.7027	10	0.72032	D	0.01	-14.2765	14.9196	0.70826	1.0:0.0:0.0:0.0	.	386;410	Q04671-2;Q04671	.;P_HUMAN	R	410;386;410	ENSP00000346659:C410R;ENSP00000261276:C386R;ENSP00000372457:C410R	ENSP00000261276:C386R	C	-	1	0	OCA2	25905339	1.000000	0.71417	0.941000	0.38009	0.956000	0.61745	7.972000	0.88022	2.114000	0.64651	0.455000	0.32223	TGT		0.284	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1		NM_000275		63	23	0	0	0	0.139131	0	63	23		
MYO5A	4644	broad.mit.edu	37	15	52662482	52662482	+	Missense_Mutation	SNP	G	G	A	rs373825708		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr15:52662482G>A	ENST00000399231.3	-	22	3193	c.2950C>T	c.(2950-2952)Cgg>Tgg	p.R984W	MYO5A_ENST00000399233.2_Missense_Mutation_p.R984W|MYO5A_ENST00000356338.6_Missense_Mutation_p.R984W|MYO5A_ENST00000553916.1_Missense_Mutation_p.R984W|MYO5A_ENST00000358212.6_Missense_Mutation_p.R984W	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	984					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTAAGGACCCGCCCAGTGGCA	0.448																																						uc002aby.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2950-2952)CGG>TGG		myosin VA isoform 1		G	TRP/ARG,TRP/ARG	0,3746		0,0,1873	110.0	103.0	105.0		2950,2950	2.6	1.0	15		105	1,8195		0,1,4097	no	missense,missense	MYO5A	NM_000259.3,NM_001142495.1	101,101	0,1,5970	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	984/1856,984/1829	52662482	1,11941	1873	4098	5971	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52662482G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2950C>T	15.37:g.52662482G>A	ENSP00000382177:p.Arg984Trp					MYO5A_uc002abx.3_Missense_Mutation_p.R984W|MYO5A_uc010uge.1_Missense_Mutation_p.R853W	p.R984W	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	22	3194	-			984			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2950C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526068	0.64860	0.0	1.22E-4	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.69	2.64	0.31445	.	0.192201	0.46442	D	0.000297	T	0.16214	0.0390	L	0.34521	1.04	0.47123	D	0.999325	P;P	0.52842	0.921;0.956	B;B	0.39152	0.209;0.292	T	0.05131	-1.0904	10	0.72032	D	0.01	.	14.6734	0.68961	0.0:0.0:0.5017:0.4983	.	984;984	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	W	984;518;984;984;984;614;984	ENSP00000382177:R984W;ENSP00000382179:R984W;ENSP00000348693:R984W;ENSP00000350945:R984W;ENSP00000451109:R984W	ENSP00000348693:R984W	R	-	1	2	MYO5A	50449774	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	2.425000	0.44723	0.730000	0.32425	-0.169000	0.13324	CGG		0.448	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1		NM_000259		41	7	0	0	0	0.11126	0	41	7		
CCDC78	124093	broad.mit.edu	37	16	775562	775562	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:775562G>A	ENST00000293889.6	-	4	391	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	96					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TCCAGTACCCGGCTCTCCAGC	0.662																																						uc002cjg.2		NaN																	0				central_nervous_system(1)	1						c.(286-288)CGG>TGG		coiled-coil domain containing 78							38.0	38.0	38.0					16																	775562		2191	4296	6487	SO:0001583	missense	124093							g.chr16:775562G>A	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.286C>T	16.37:g.775562G>A	ENSP00000293889:p.Arg96Trp					CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R170W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R96W|CCDC78_uc002cjk.2_Missense_Mutation_p.R96W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	p.R96W	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN			4	392	-		Hepatocellular(780;0.0218)	96			Potential.		B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.286C>T	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420828	0.42918	.	.	ENSG00000162004	ENST00000293889	T	0.54479	0.57	4.83	3.81	0.43845	.	0.152547	0.39759	N	0.001271	T	0.65048	0.2654	L	0.54323	1.7	0.35011	D	0.756897	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.984	T	0.74206	-0.3740	10	0.87932	D	0	-46.8084	10.9577	0.47366	0.0:0.0:0.8137:0.1863	.	96;96;170;96	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	W	96	ENSP00000293889:R96W	ENSP00000293889:R96W	R	-	1	2	CCDC78	715563	0.009000	0.17119	1.000000	0.80357	0.045000	0.14185	0.742000	0.26216	2.422000	0.82143	0.436000	0.28706	CGG		0.662	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3		NM_173476		30	2	0	0	0	0.080422	0	30	2		
SH2B1	25970	broad.mit.edu	37	16	28877696	28877696	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:28877696C>T	ENST00000322610.8	+	4	720	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.P94L|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.P94L|SH2B1_ENST00000395532.4_Missense_Mutation_p.P94L|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	94	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ATCCTGGCTCCCCTGAGCCCT	0.652																																						uc002dri.2		NaN																	0				ovary(2)	2						c.(280-282)CCC>CTC		SH2B adaptor protein 1 isoform 1							25.0	26.0	25.0					16																	28877696		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877696C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.281C>T	16.37:g.28877696C>T	ENSP00000321221:p.Pro94Leu					uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.P94L|SH2B1_uc002drk.2_Missense_Mutation_p.P94L|SH2B1_uc002drl.2_Missense_Mutation_p.P94L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.P94L|SH2B1_uc002drm.2_Missense_Mutation_p.P94L	p.P94L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			4	720	+			94			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.281C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	c	16.39	3.108834	0.56398	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.51071	0.72;0.73;0.74;0.74	4.59	4.59	0.56863	.	0.302110	0.26153	N	0.026029	T	0.34221	0.0890	N	0.14661	0.345	0.34879	D	0.744431	P;P;P	0.47762	0.879;0.879;0.9	B;B;B	0.41332	0.222;0.222;0.354	T	0.55379	-0.8150	10	0.72032	D	0.01	-33.1544	16.1888	0.81972	0.0:1.0:0.0:0.0	.	94;94;94	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	L	94	ENSP00000321221:P94L;ENSP00000352232:P94L;ENSP00000378903:P94L;ENSP00000337163:P94L	ENSP00000321221:P94L	P	+	2	0	SH2B1	28785197	0.796000	0.28864	0.969000	0.41365	0.680000	0.39746	2.289000	0.43523	2.101000	0.63845	0.450000	0.29827	CCC		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		15	16	0	0	0	0.160694	0	15	16		
ATMIN	23300	broad.mit.edu	37	16	81078139	81078139	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr16:81078139C>G	ENST00000299575.4	+	4	2060	c.2036C>G	c.(2035-2037)gCa>gGa	p.A679G	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.A523G|ATMIN_ENST00000564241.1_Missense_Mutation_p.A523G	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	679					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TTCTTACTCGCAGATACCTCT	0.443																																						uc002ffz.1		NaN																	0					0						c.(2035-2037)GCA>GGA		ATM interactor							96.0	103.0	101.0					16																	81078139		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078139C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2036C>G	16.37:g.81078139C>G	ENSP00000299575:p.Ala679Gly					ATMIN_uc002fga.2_Missense_Mutation_p.A521G|ATMIN_uc010vnn.1_Missense_Mutation_p.A450G|ATMIN_uc002fgb.1_Missense_Mutation_p.A521G	p.A679G	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2054	+			679					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.2036C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604894	0.28623	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.32753	1.44	6.17	6.17	0.99709	.	0.253822	0.46442	D	0.000286	T	0.38957	0.1060	M	0.70595	2.14	0.33932	D	0.642186	B	0.31680	0.335	B	0.28139	0.086	T	0.50092	-0.8868	10	0.54805	T	0.06	-22.6824	20.8794	0.99867	0.0:1.0:0.0:0.0	.	679	O43313	ATMIN_HUMAN	G	679;450	ENSP00000299575:A679G	ENSP00000299575:A679G	A	+	2	0	ATMIN	79635640	0.974000	0.33945	0.762000	0.31397	0.307000	0.27823	4.361000	0.59461	2.941000	0.99782	0.655000	0.94253	GCA		0.443	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1		NM_015251		33	141	0	0	0	0.173368	0	33	141		
OR3A1	4994	broad.mit.edu	37	17	3195282	3195282	+	Missense_Mutation	SNP	C	C	T	rs571849979		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:3195282C>T	ENST00000323404.1	-	1	594	c.595G>A	c.(595-597)Gag>Aag	p.E199K	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	199					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGCAGCAGCTCATTGAGTTGG	0.522													.|||	1	0.000199681	0.0	0.0	5008	,	,		20912	0.001		0.0	False		,,,				2504	0.0				GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NaN																	0				kidney(2)|central_nervous_system(1)	3						c.(595-597)GAG>AAG		olfactory receptor, family 3, subfamily A,							102.0	98.0	99.0					17																	3195282		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195282C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.595G>A	17.37:g.3195282C>T	ENSP00000313803:p.Glu199Lys						p.E199K	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	595	-			199			Extracellular (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.595G>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460880	0.26248	.	.	ENSG00000180090	ENST00000323404	T	0.00207	8.55	5.01	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.00210	0.0006	L	0.54863	1.705	0.33479	D	0.587169	B	0.25105	0.118	B	0.29785	0.107	T	0.44544	-0.9321	10	0.45353	T	0.12	-21.2977	10.8041	0.46507	0.0:0.8438:0.0:0.1562	.	199	P47881	OR3A1_HUMAN	K	199	ENSP00000313803:E199K	ENSP00000313803:E199K	E	-	1	0	OR3A1	3142032	0.001000	0.12720	1.000000	0.80357	0.074000	0.17049	0.667000	0.25112	0.816000	0.34421	-0.143000	0.13931	GAG		0.522	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2				5	94	0	0	0	0.021553	0	5	94		
C17orf74	201243	broad.mit.edu	37	17	7329763	7329763	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7329763C>T	ENST00000333870.3	+	3	527	c.453C>T	c.(451-453)atC>atT	p.I151I	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	151						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACAGACAAATCCCCCATAGCC	0.597																																						uc002ggw.2		NaN																	0					0						c.(451-453)ATC>ATT		hypothetical protein LOC201243							93.0	101.0	98.0					17																	7329763		1988	4161	6149	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7329763C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.453C>T	17.37:g.7329763C>T						FGF11_uc010vtw.1_Intron	p.I151I	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	526	+		Prostate(122;0.157)	151						Silent	SNP	ENST00000333870.3	37	c.453C>T	CCDS42255.1																																																																																				0.597	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2		NM_175734		36	27	0	0	0	0.074837	0	36	27		
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		19	3	0	0	0	0.043863	0	19	3		
ATP6V0A1	535	broad.mit.edu	37	17	40660605	40660605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:40660605G>A	ENST00000343619.4	+	19	2251	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V356M|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V667M|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000537728.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	710					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CGAGGACGAAGTGGTAAGATG	0.517																																						uc002hzr.2		NaN																	0				pancreas(1)	1						c.(2128-2130)GTG>ATG		ATPase, H+ transporting, lysosomal V0 subunit a1							168.0	147.0	154.0					17																	40660605		1568	3582	5150	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40660605G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2128G>A	17.37:g.40660605G>A	ENSP00000342951:p.Val710Met					ATP6V0A1_uc002hzq.2_Intron|ATP6V0A1_uc002hzs.2_Intron|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.V667M|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.V356M|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.V569M|ATP6V0A1_uc002hzt.2_Intron	p.V710M	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	19	2295	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	710			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2128G>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621820	0.46840	.	.	ENSG00000033627	ENST00000343619;ENST00000544137	D;D	0.85955	-2.05;-2.05	6.17	6.17	0.99709	.	.	.	.	.	T	0.80768	0.4686	N	0.14661	0.345	0.25354	N	0.988847	B;B	0.23891	0.093;0.093	B;B	0.32289	0.077;0.143	T	0.72350	-0.4320	9	0.72032	D	0.01	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	667;710	B7Z2A9;Q93050	.;VPP1_HUMAN	M	710;356	ENSP00000342951:V710M;ENSP00000446377:V356M	ENSP00000342951:V710M	V	+	1	0	ATP6V0A1	37914131	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.381000	0.66208	2.941000	0.99782	0.655000	0.94253	GTG		0.517	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020		47	44	0	0	0	0.139131	0	47	44		
AOC3	8639	broad.mit.edu	37	17	41008400	41008400	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:41008400A>C	ENST00000308423.2	+	4	2285	c.2125A>C	c.(2125-2127)Aac>Cac	p.N709H	AOC3_ENST00000591562.1_Missense_Mutation_p.N166H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	709					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCGACCCTATAACTTCTTTGA	0.572																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2125-2127)AAC>CAC		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						81.0	80.0	80.0					17																	41008400		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41008400A>C	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2125A>C	17.37:g.41008400A>C	ENSP00000312326:p.Asn709His						p.N709H	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2285	+		Breast(137;0.000143)	709			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.2125A>C	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467664	0.84533	.	.	ENSG00000131471	ENST00000308423	T	0.06849	3.25	4.91	4.91	0.64330	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09037	-1.0693	10	0.56958	D	0.05	.	14.6957	0.69121	1.0:0.0:0.0:0.0	.	709	Q16853	AOC3_HUMAN	H	709	ENSP00000312326:N709H	ENSP00000312326:N709H	N	+	1	0	AOC3	38261926	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.970000	0.76099	2.061000	0.61500	0.459000	0.35465	AAC		0.572	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1		NM_003734		10	76	0	0	0	0.09319	0	10	76		
ZNF652	22834	broad.mit.edu	37	17	47388796	47388796	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:47388796T>C	ENST00000362063.2	-	5	1505	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ZNF652_ENST00000430262.2_Missense_Mutation_p.Y396C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTACTTGTACTGAAACCT	0.458																																						uc002iov.3		NaN																	0				ovary(1)	1						c.(1186-1188)TAC>TGC		zinc finger protein 652							267.0	236.0	247.0					17																	47388796		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47388796T>C	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1187A>G	17.37:g.47388796T>C	ENSP00000354686:p.Tyr396Cys					ZNF652_uc002iow.2_Missense_Mutation_p.Y396C|ZNF652_uc002iou.3_RNA	p.Y396C	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		5	1651	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		396			C2H2-type 6.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1187A>G	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360362	0.82353	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08546	3.08;3.08	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04855	-1.0922	10	0.41790	T	0.15	-21.4805	15.4678	0.75416	0.0:0.0:0.0:1.0	.	396	Q9Y2D9	ZN652_HUMAN	C	396	ENSP00000354686:Y396C;ENSP00000416305:Y396C	ENSP00000354686:Y396C	Y	-	2	0	ZNF652	44743795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.903000	0.87398	2.135000	0.66039	0.528000	0.53228	TAC		0.458	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1		NM_014897		106	160	0	0	0	0.139131	0	106	160		
NXPH3	11248	broad.mit.edu	37	17	47656111	47656111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:47656111G>A	ENST00000328741.5	+	2	570	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Missense_Mutation_p.A70T	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	70	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					AGGGCTGCTGGCCCCGCCTGG	0.682																																						uc002ipa.2		NaN																	0				pancreas(1)|skin(1)	2						c.(208-210)GCC>ACC		neurexophilin 3 precursor							29.0	33.0	32.0					17																	47656111		2202	4298	6500	SO:0001583	missense	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656111G>A	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.208G>A	17.37:g.47656111G>A	ENSP00000329295:p.Ala70Thr					NXPH3_uc010wlw.1_Missense_Mutation_p.A70T	p.A70T	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	492	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		70			II.		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	c.208G>A	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.030115	0.75504	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.76	4.76	0.60689	.	0.142994	0.47455	D	0.000237	T	0.25121	0.0610	N	0.22421	0.69	0.29505	N	0.854661	B;B	0.22983	0.078;0.003	B;B	0.24848	0.056;0.006	T	0.15321	-1.0441	9	0.10902	T	0.67	-20.1759	8.5412	0.33393	0.1703:0.0:0.8297:0.0	.	70;70	D6RGW2;O95157	.;NXPH3_HUMAN	T	70	.	ENSP00000329295:A70T	A	+	1	0	NXPH3	45011110	0.125000	0.22332	1.000000	0.80357	0.926000	0.56050	1.093000	0.30939	2.474000	0.83562	0.556000	0.70494	GCC		0.682	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1				40	48	0	0	0	0.131918	0	40	48		
GPR142	350383	broad.mit.edu	37	17	72363883	72363883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:72363883G>A	ENST00000335666.4	+	1	287	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	80						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGCAGTTTCCGCCAGGTGAAT	0.562																																						uc010wqy.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(238-240)CGC>CAC		G protein-coupled receptor 142							45.0	42.0	43.0					17																	72363883		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363883G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.239G>A	17.37:g.72363883G>A	ENSP00000335158:p.Arg80His					GPR142_uc010wqx.1_5'UTR	p.R80H	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			1	239	+			80			Extracellular (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.239G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	5.679	0.309909	0.10733	.	.	ENSG00000257008	ENST00000335666	T	0.73258	-0.73	2.3	0.112	0.14623	.	.	.	.	.	T	0.44953	0.1318	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.33675	-0.9859	9	0.87932	D	0	.	3.0274	0.06096	0.3076:0.2347:0.4576:0.0	.	80	Q7Z601	GP142_HUMAN	H	80	ENSP00000335158:R80H	ENSP00000335158:R80H	R	+	2	0	GPR142	69875478	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.285000	0.08410	-0.068000	0.12953	-0.156000	0.13503	CGC		0.562	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1		NM_181790		26	28	0	0	0	0.125774	0	26	28		
TCF4	6925	broad.mit.edu	37	18	53254339	53254339	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr18:53254339G>A	ENST00000356073.4	-	2	620	c.9C>T	c.(7-9)caC>caT	p.H3H	TCF4_ENST00000564403.2_Silent_p.H3H|TCF4_ENST00000566279.1_Silent_p.H3H|TCF4_ENST00000354452.3_Silent_p.H3H|TCF4_ENST00000564999.1_Silent_p.H3H|TCF4_ENST00000567880.1_Silent_p.H3H|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000568673.1_5'Flank|TCF4_ENST00000565018.2_Silent_p.H3H|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000398339.1_Silent_p.H105H|TCF4_ENST00000540999.1_5'Flank	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	3	Essential for MYOD1 inhibition. {ECO:0000250}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTCGCTGTTGGTGATGCATTT	0.423																																						uc002lfz.2		NaN																	0				ovary(1)|lung(1)	2						c.(7-9)CAC>CAT		transcription factor 4 isoform b							90.0	78.0	82.0					18																	53254339		2203	4300	6503	SO:0001819	synonymous_variant	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53254339G>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.9C>T	18.37:g.53254339G>A						TCF4_uc010xdx.1_5'Flank|TCF4_uc010dph.1_Silent_p.H3H|TCF4_uc010xdy.1_Intron|TCF4_uc002lga.2_Silent_p.H105H|TCF4_uc010dpi.2_Silent_p.H3H	p.H3H	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	2	621	-			3			Essential for MYOD1 inhibition (By similarity).		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	ENST00000356073.4	37	c.9C>T	CCDS11960.1																																																																																				0.423	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1		NM_003199		37	14	0	0	0	0.131918	0	37	14		
TMPRSS9	360200	broad.mit.edu	37	19	2403105	2403105	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:2403105C>T	ENST00000332578.3	+	5	480	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	160	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCTTTTCCTGCGGGAACA	0.572																																						uc010xgx.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(478-480)TCC>TCT		transmembrane protease, serine 9							62.0	44.0	50.0					19																	2403105		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2403105C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.480C>T	19.37:g.2403105C>T						TMPRSS9_uc002lvv.1_Silent_p.S194S	p.S160S	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	480	+			160			LDL-receptor class A.|Extracellular (Potential).		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.480C>T	CCDS12088.1																																																																																				0.572	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3		NM_182973		12	8	0	0	0	0.160694	0	12	8		
DIRAS1	148252	broad.mit.edu	37	19	2717599	2717599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:2717599G>A	ENST00000323469.4	-	2	389	c.206C>T	c.(205-207)cCg>cTg	p.P69L	DIRAS1_ENST00000585334.1_Missense_Mutation_p.P69L	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	69					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCATGGCCGGGAACTGGTG	0.622																																						uc002lwf.3		NaN																	0				ovary(1)	1						c.(205-207)CCG>CTG		DIRAS family, GTP-binding RAS-like 1							77.0	63.0	68.0					19																	2717599		2203	4299	6502	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717599G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.206C>T	19.37:g.2717599G>A	ENSP00000325836:p.Pro69Leu						p.P69L	NM_145173	NP_660156	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	364	-			69						Missense_Mutation	SNP	ENST00000323469.4	37	c.206C>T	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459820	0.84317	.	.	ENSG00000176490	ENST00000323469	T	0.76316	-1.01	4.07	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	L	0.28115	0.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83206	-0.0076	10	0.72032	D	0.01	.	13.7485	0.62890	0.0:0.0:1.0:0.0	.	69	O95057	DIRA1_HUMAN	L	69	ENSP00000325836:P69L	ENSP00000325836:P69L	P	-	2	0	DIRAS1	2668599	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.502000	0.97981	1.813000	0.52934	0.549000	0.68633	CCG		0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1				3	38	0	0	0	0.115264	0	3	38		
MUC16	94025	broad.mit.edu	37	19	9061676	9061676	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:9061676C>T	ENST00000397910.4	-	3	25973	c.25770G>A	c.(25768-25770)gtG>gtA	p.V8590V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8592	Ser-rich.|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						GAAGTGCAGTCACAGGATGAG	0.507																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25768-25770)GTG>GTA		mucin 16							103.0	97.0	99.0					19																	9061676		2078	4217	6295	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061676C>T	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.25770G>A	19.37:g.9061676C>T							p.V8590V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25974	-			8592			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.25770G>A	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		26	15	0	0	0	0.099896	0	26	15		
CNN1	1264	broad.mit.edu	37	19	11660528	11660528	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:11660528A>C	ENST00000252456.2	+	7	1023	c.812A>C	c.(811-813)aAg>aCg	p.K271T	CNN1_ENST00000544952.1_Missense_Mutation_p.K251T|CNN1_ENST00000535659.2_Missense_Mutation_p.K221T|CNN1_ENST00000592923.1_Missense_Mutation_p.K221T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	271					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TACGACCCCAAGTACTGTCTG	0.622																																						uc002msc.1		NaN																	0					0						c.(811-813)AAG>ACG		calponin 1, basic, smooth muscle							82.0	72.0	75.0					19																	11660528		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660528A>C	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.812A>C	19.37:g.11660528A>C	ENSP00000252456:p.Lys271Thr					CNN1_uc010xmb.1_Missense_Mutation_p.K221T|CNN1_uc010xmc.1_Missense_Mutation_p.K221T	p.K271T	NM_001299	NP_001290	P51911	CNN1_HUMAN			7	976	+			271					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.812A>C	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058603	0.76074	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.36157	1.28;1.27;1.27	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.58925	1.835	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.59156	-0.7507	10	0.87932	D	0	-56.6669	13.4048	0.60906	1.0:0.0:0.0:0.0	.	271	P51911	CNN1_HUMAN	T	271;221;251	ENSP00000252456:K271T;ENSP00000442031:K221T;ENSP00000437470:K251T	ENSP00000252456:K271T	K	+	2	0	CNN1	11521528	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	8.630000	0.90987	2.013000	0.59113	0.443000	0.29094	AAG		0.622	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1		NM_001299		13	73	0	0	0	0.132662	0	13	73		
ZNF208	7757	broad.mit.edu	37	19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:22155320C>T	ENST00000397126.4	-	4	2664	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	839					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(2215-2217)GGC>GAC		zinc finger protein 208							51.0	57.0	55.0					19																	22155320		2095	4248	6343	SO:0001583	missense	7757							g.chr19:22155320C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2516G>A	19.37:g.22155320C>T	ENSP00000380315:p.Gly839Asp					ZNF208_uc002nqo.1_Intron	p.G739D	NM_007153	NP_009084					5	2365	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2216G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257522	0.39896	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07021	3.23	2.51	-2.94	0.05581	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17450	0.0419	.	.	.	0.27866	N	0.940213	D	0.89917	1.0	D	0.80764	0.994	T	0.07009	-1.0795	8	0.48119	T	0.1	.	2.8928	0.05681	0.1774:0.5352:0.1733:0.1142	.	739	O43345	ZN208_HUMAN	D	839;739	ENSP00000380315:G839D	ENSP00000380315:G839D	G	-	2	0	ZNF208	21947160	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.247000	0.18179	-1.516000	0.01782	0.121000	0.15741	GGC		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		17	67	0	0	0	0.160694	0	17	67		
KIAA0355	9710	broad.mit.edu	37	19	34810899	34810899	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:34810899T>C	ENST00000299505.6	+	3	1456	c.583T>C	c.(583-585)Tct>Cct	p.S195P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	195										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGTGGCTCACTCTTGCTTTGC	0.532																																						uc002nvd.3		NaN																	0				ovary(1)	1						c.(583-585)TCT>CCT		hypothetical protein LOC9710							160.0	136.0	144.0					19																	34810899		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34810899T>C		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.583T>C	19.37:g.34810899T>C	ENSP00000299505:p.Ser195Pro						p.S195P	NM_014686	NP_055501	O15063	K0355_HUMAN			3	1442	+	Esophageal squamous(110;0.162)		195					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.583T>C	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797337	0.70567	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.36	5.36	0.76844	.	0.055071	0.85682	D	0.000000	T	0.51398	0.1672	L	0.27053	0.805	0.80722	D	1	P	0.51537	0.946	P	0.50754	0.649	T	0.57382	-0.7821	9	0.87932	D	0	-2.798	15.346	0.74337	0.0:0.0:0.0:1.0	.	195	O15063	K0355_HUMAN	P	195	.	ENSP00000299505:S195P	S	+	1	0	KIAA0355	39502739	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.755000	0.62198	2.030000	0.59900	0.460000	0.39030	TCT		0.532	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		3	140	0	0	0	0.150653	0	3	140		
CYP2A13	1553	broad.mit.edu	37	19	41594393	41594393	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:41594393T>G	ENST00000330436.3	+	1	17	c.17T>G	c.(16-18)cTg>cGg	p.L6R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	6					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCCTCAGGGCTGCTTCTGGTG	0.572																																						uc002opt.2		NaN																	0				ovary(2)|skin(1)	3						c.(16-18)CTG>CGG		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						65.0	54.0	58.0					19																	41594393		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594393T>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.17T>G	19.37:g.41594393T>G	ENSP00000332679:p.Leu6Arg						p.L6R	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			1	26	+			6					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.17T>G	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.946485	0.34377	.	.	ENSG00000197838	ENST00000330436	T	0.72615	-0.67	3.3	3.3	0.37823	.	0.964830	0.08457	U	0.942989	T	0.64034	0.2562	L	0.56769	1.78	0.24501	N	0.994253	P	0.37864	0.61	B	0.32465	0.146	T	0.52697	-0.8541	10	0.30854	T	0.27	.	9.9942	0.41889	0.0:0.0:0.0:1.0	.	6	Q16696	CP2AD_HUMAN	R	6	ENSP00000332679:L6R	ENSP00000332679:L6R	L	+	2	0	CYP2A13	46286233	0.377000	0.25106	0.920000	0.36463	0.966000	0.64601	0.898000	0.28404	1.514000	0.48869	0.353000	0.21931	CTG		0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		NM_000766		11	32	0	0	0	0.11911	0	11	32		
CADM4	199731	broad.mit.edu	37	19	44129330	44129330	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr19:44129330G>A	ENST00000222374.2	-	7	876	c.828C>T	c.(826-828)ctC>ctT	p.L276L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	276	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCGGCAGCGTGAGCGTCTCTC	0.607																																						uc002oxc.1		NaN																	0					0						c.(826-828)CTC>CTT		cell adhesion molecule 4 precursor							55.0	47.0	50.0					19																	44129330		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44129330G>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.828C>T	19.37:g.44129330G>A							p.L276L	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			7	877	-		Prostate(69;0.0199)	276			Ig-like C2-type 2.|Extracellular (Potential).		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.828C>T	CCDS12627.1																																																																																				0.607	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1		NM_145296		24	22	0	0	0	0.0918	0	24	22		
LTBP1	4052	broad.mit.edu	37	2	33359935	33359935	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:33359935G>C	ENST00000404816.2	+	5	1462	c.1109G>C	c.(1108-1110)tGt>tCt	p.C370S	LTBP1_ENST00000354476.3_Missense_Mutation_p.C370S|LTBP1_ENST00000418533.2_Missense_Mutation_p.C44S|LTBP1_ENST00000407925.1_Missense_Mutation_p.C44S|LTBP1_ENST00000404525.1_Missense_Mutation_p.C44S|LTBP1_ENST00000402934.1_Missense_Mutation_p.C44S|LTBP1_ENST00000390003.4_Missense_Mutation_p.C44S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	370					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGCAGCTGTCAGAACAGC	0.547																																						uc002ros.2		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1108-1110)TGT>TCT		latent transforming growth factor beta binding							101.0	87.0	92.0					2																	33359935		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33359935G>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1109G>C	2.37:g.33359935G>C	ENSP00000386043:p.Cys370Ser					LTBP1_uc002rot.2_Missense_Mutation_p.C44S|LTBP1_uc002rou.2_Missense_Mutation_p.C44S|LTBP1_uc002rov.2_Missense_Mutation_p.C44S|LTBP1_uc010ymz.1_Missense_Mutation_p.C44S|LTBP1_uc010yna.1_Missense_Mutation_p.C44S	p.C370S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			5	1109	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	370					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1109G>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452949	0.84209	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.93247	-3.19;-3.11;-2.66;-2.68;-2.73;-2.72;-2.64	5.57	5.57	0.84162	.	.	.	.	.	D	0.96423	0.8833	M	0.67700	2.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;0.999;1.0;0.998;0.998;0.998	D	0.96614	0.9454	9	0.87932	D	0	.	19.5412	0.95275	0.0:0.0:1.0:0.0	.	370;44;44;44;44;370	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	S	370;370;59;44;44;44;44;44	ENSP00000386043:C370S;ENSP00000346467:C370S;ENSP00000374653:C44S;ENSP00000393057:C44S;ENSP00000384373:C44S;ENSP00000385359:C44S;ENSP00000384091:C44S	ENSP00000346467:C370S	C	+	2	0	LTBP1	33213439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.611000	0.88343	0.462000	0.41574	TGT		0.547	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943		16	58	0	0	0	0.160694	0	16	58		
AFF3	3899	broad.mit.edu	37	2	100623238	100623238	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:100623238C>T	ENST00000409236.2	-	5	841	c.729G>A	c.(727-729)caG>caA	p.Q243Q	AFF3_ENST00000356421.2_Silent_p.Q268Q|AFF3_ENST00000317233.4_Silent_p.Q243Q|AFF3_ENST00000409579.1_Silent_p.Q268Q			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	243					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CATCAGGGGCCTGATCTTGGC	0.572																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(727-729)CAG>CAA		AF4/FMR2 family, member 3 isoform 1							78.0	72.0	74.0					2																	100623238		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623238C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.729G>A	2.37:g.100623238C>T						AFF3_uc002taf.2_Silent_p.Q268Q|AFF3_uc010fiq.1_Silent_p.Q243Q|AFF3_uc010yvr.1_Silent_p.Q397Q|AFF3_uc002tah.1_Silent_p.Q268Q|AFF3_uc010fir.1_Silent_p.Q320Q|AFF3_uc002tai.2_Silent_p.Q165Q	p.Q243Q	NM_002285	NP_002276	P51826	AFF3_HUMAN			6	965	-			243					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.729G>A	CCDS42723.1																																																																																				0.572	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		21	8	0	0	0	0.055883	0	21	8		
BUB1	699	broad.mit.edu	37	2	111395670	111395670	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr2:111395670A>T	ENST00000302759.6	-	25	3247	c.3129T>A	c.(3127-3129)caT>caA	p.H1043Q	BUB1_ENST00000535254.1_Missense_Mutation_p.H1023Q|BUB1_ENST00000409311.1_Missense_Mutation_p.H986Q	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1043	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGATGGAAGATGATGACAAT	0.333																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(3127-3129)CAT>CAA		budding uninhibited by benzimidazoles 1							145.0	136.0	139.0					2																	111395670		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111395670A>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.3129T>A	2.37:g.111395670A>T	ENSP00000302530:p.His1043Gln					BUB1_uc010yxh.1_Missense_Mutation_p.H1023Q|BUB1_uc010fkb.2_Missense_Mutation_p.H986Q	p.H1043Q	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	25	3241	-		Ovarian(717;0.0822)	1043			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.3129T>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	9.090	1.001501	0.19121	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759	T;T;T	0.17854	2.25;2.25;2.25	5.92	0.995	0.19838	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.712335	0.14705	N	0.303294	T	0.09512	0.0234	L	0.29908	0.895	0.25217	N	0.989938	B;B;B	0.18741	0.007;0.03;0.004	B;B;B	0.12156	0.003;0.007;0.001	T	0.38714	-0.9648	10	0.14656	T	0.56	-12.931	5.0918	0.14711	0.4054:0.1854:0.4093:0.0	.	1023;986;1043	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Q	1023;986;1043	ENSP00000441013:H1023Q;ENSP00000386701:H986Q;ENSP00000302530:H1043Q	ENSP00000302530:H1043Q	H	-	3	2	BUB1	111112142	0.992000	0.36948	1.000000	0.80357	0.944000	0.59088	0.814000	0.27239	0.154000	0.19237	0.528000	0.53228	CAT		0.333	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336		4	35	0	0	0	0.150653	0	4	35		
NCOA6	23054	broad.mit.edu	37	20	33329786	33329786	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:33329786C>A	ENST00000374796.2	-	12	6844	c.4274G>T	c.(4273-4275)aGt>aTt	p.S1425I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1425I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1425					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGCAATCACTGTCCTGAGG	0.468																																						uc002xav.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(4273-4275)AGT>ATT		nuclear receptor coactivator 6							93.0	84.0	87.0					20																	33329786		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329786C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4274G>T	20.37:g.33329786C>A	ENSP00000363929:p.Ser1425Ile					NCOA6_uc002xaw.2_Missense_Mutation_p.S1425I	p.S1425I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	6845	-			1425					A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.4274G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239971	0.22711	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27104	1.69;1.69	5.31	2.12	0.27331	.	0.299443	0.34879	N	0.003609	T	0.11452	0.0279	N	0.08118	0	0.27388	N	0.955217	B	0.16603	0.018	B	0.21360	0.034	T	0.16512	-1.0400	10	0.38643	T	0.18	-0.4835	6.4614	0.21958	0.0:0.2773:0.4955:0.2273	.	1425	Q14686	NCOA6_HUMAN	I	1425	ENSP00000363929:S1425I;ENSP00000351894:S1425I	ENSP00000351894:S1425I	S	-	2	0	NCOA6	32793447	0.002000	0.14202	1.000000	0.80357	0.995000	0.86356	-0.107000	0.10873	0.794000	0.33899	0.591000	0.81541	AGT		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		15	96	1	0	4.7546e-09	0.146539	5.30021e-09	15	96		
RBL1	5933	broad.mit.edu	37	20	35724278	35724278	+	Silent	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:35724278C>A	ENST00000373664.3	-	1	120	c.54G>T	c.(52-54)ggG>ggT	p.G18G	RBL1_ENST00000344359.3_Silent_p.G18G|RBL1_ENST00000598590.1_Silent_p.S30S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	18					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTAGCGCCTCCCCGGCTGCGG	0.697																																						uc002xgi.2		NaN																	0				lung(5)|skin(3)|ovary(2)	10						c.(52-54)GGG>GGT		retinoblastoma-like protein 1 isoform a							21.0	19.0	19.0					20																	35724278		2202	4295	6497	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35724278C>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.54G>T	20.37:g.35724278C>A						RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.G18G|RBL1_uc010gfv.1_RNA	p.G18G	NM_002895	NP_002886	P28749	RBL1_HUMAN			1	133	-		Myeloproliferative disorder(115;0.00878)	18					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.54G>T	CCDS13289.1																																																																																				0.697	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2		NM_002895		5	4	1	0	3.09899e-07	0.047766	3.34494e-07	5	4		
ZNF831	128611	broad.mit.edu	37	20	57767397	57767397	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr20:57767397C>T	ENST00000371030.2	+	1	1323	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	441							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGCATCGACCTGCCCACGC	0.677																																						uc002yan.2		NaN																	0				skin(13)|ovary(1)	14						c.(1321-1323)GAC>GAT		zinc finger protein 831							31.0	38.0	35.0					20																	57767397		2080	4188	6268	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767397C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1323C>T	20.37:g.57767397C>T							p.D441D	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1323	+	all_lung(29;0.0085)		441					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1323C>T	CCDS42894.1																																																																																				0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		5	23	0	0	0	0.021553	0	5	23		
HDAC11	79885	broad.mit.edu	37	3	13522882	13522882	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:13522882A>C	ENST00000295757.3	+	2	322	c.139A>C	c.(139-141)Aat>Cat	p.N47H	HDAC11_ENST00000437379.2_Missense_Mutation_p.N19H|HDAC11_ENST00000522202.1_Missense_Mutation_p.N19H|HDAC11_ENST00000405025.1_Missense_Mutation_p.N19H|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000404548.1_Missense_Mutation_p.N47H|HDAC11_ENST00000404040.1_Missense_Mutation_p.N47H|HDAC11_ENST00000402271.1_Missense_Mutation_p.N47H|HDAC11_ENST00000402259.1_Missense_Mutation_p.N47H|HDAC11-AS1_ENST00000424112.2_RNA|HDAC11_ENST00000433119.1_Missense_Mutation_p.N19H	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	47	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CAAAGTGATCAATTTCCTAAA	0.542																																						uc003bxy.2		NaN																	0				ovary(2)	2						c.(139-141)AAT>CAT		histone deacetylase 11 isoform 1							121.0	115.0	117.0					3																	13522882		2203	4300	6503	SO:0001583	missense	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	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)|transcription factor binding	g.chr3:13522882A>C	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.139A>C	3.37:g.13522882A>C	ENSP00000295757:p.Asn47His					HDAC11_uc010heb.2_Missense_Mutation_p.N19H|HDAC11_uc011aux.1_5'UTR|HDAC11_uc003bxz.2_Missense_Mutation_p.N19H|HDAC11_uc011auy.1_Missense_Mutation_p.N19H	p.N47H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN			2	272	+			47			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.139A>C	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946525	0.34377	.	.	ENSG00000163517	ENST00000433119;ENST00000295757;ENST00000402259;ENST00000402271;ENST00000404548;ENST00000404040;ENST00000458642;ENST00000405478;ENST00000405025;ENST00000522202;ENST00000418189;ENST00000434848;ENST00000416248;ENST00000455904;ENST00000437379	T;T;T;T;T;T;T;T;T;T;T;T;T	0.72282	-0.44;0.93;-0.64;-0.44;-0.05;-0.44;-0.44;-0.44;-0.64;-0.44;-0.44;-0.44;-0.44	5.28	2.8	0.32819	Histone deacetylase domain (2);	0.248820	0.40144	N	0.001165	T	0.56031	0.1958	L	0.37507	1.11	0.80722	D	1	B;B;B;B	0.32862	0.0;0.387;0.001;0.0	B;B;B;B	0.31869	0.005;0.137;0.009;0.008	T	0.56426	-0.7981	10	0.87932	D	0	-0.1297	6.133	0.20215	0.754:0.1617:0.0842:0.0	.	19;19;19;47	B4DDK1;Q658J9;B5MCV5;Q96DB2	.;.;.;HDA11_HUMAN	H	19;47;47;47;47;47;47;19;19;19;66;66;19;19;19	ENSP00000295757:N47H;ENSP00000384706:N47H;ENSP00000384123:N47H;ENSP00000385528:N47H;ENSP00000385475:N47H;ENSP00000405403:N47H;ENSP00000385252:N19H;ENSP00000384019:N19H;ENSP00000429794:N19H;ENSP00000398651:N66H;ENSP00000402298:N19H;ENSP00000396122:N19H;ENSP00000395188:N19H	ENSP00000295757:N47H	N	+	1	0	HDAC11	13497882	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.754000	0.38369	0.866000	0.35629	-0.250000	0.11733	AAT		0.542	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5		NM_024827		52	149	0	0	0	0.139131	0	52	149		
ZNF445	353274	broad.mit.edu	37	3	44488285	44488285	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:44488285T>G	ENST00000396077.2	-	8	3225	c.2878A>C	c.(2878-2880)Agc>Cgc	p.S960R	ZNF445_ENST00000425708.2_Missense_Mutation_p.S960R	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	960					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGCTCTGGCTGCAAGCTTCT	0.478																																						uc003cnf.2		NaN																	0				ovary(1)	1						c.(2878-2880)AGC>CGC		zinc finger protein 445							128.0	126.0	127.0					3																	44488285		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488285T>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2878A>C	3.37:g.44488285T>G	ENSP00000379387:p.Ser960Arg					ZNF445_uc011azv.1_Missense_Mutation_p.S948R|ZNF445_uc011azw.1_Missense_Mutation_p.S960R	p.S960R	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	3226	-			960					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2878A>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	T	9.599	1.128270	0.21041	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.06294	3.32;3.32	4.37	-4.15	0.03881	.	1.732430	0.02941	N	0.140416	T	0.03915	0.0110	N	0.20445	0.575	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40459	-0.9562	10	0.14656	T	0.56	.	5.3618	0.16091	0.0:0.3051:0.259:0.4359	.	948;960	B7ZKX2;P59923	.;ZN445_HUMAN	R	960	ENSP00000413073:S960R;ENSP00000379387:S960R	ENSP00000379387:S960R	S	-	1	0	ZNF445	44463289	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.859000	0.04277	-0.838000	0.04218	-0.313000	0.08912	AGC		0.478	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2		NM_181489		20	63	0	0	0	0.055883	0	20	63		
PDZRN3	23024	broad.mit.edu	37	3	73433184	73433184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:73433184C>T	ENST00000263666.4	-	10	2647	c.2533G>A	c.(2533-2535)Ggg>Agg	p.G845R	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G562R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G567R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G502R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G502R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	845					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCGGCTCCCGTCGCTGGCT	0.667																																						uc003dpl.1		NaN																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2533-2535)GGG>AGG		PDZ domain containing ring finger 3							38.0	44.0	42.0					3																	73433184		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433184C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2533G>A	3.37:g.73433184C>T	ENSP00000263666:p.Gly845Arg					PDZRN3_uc011bgh.1_Missense_Mutation_p.G502R|PDZRN3_uc010hoe.1_Missense_Mutation_p.G543R|PDZRN3_uc011bgf.1_Missense_Mutation_p.G562R|PDZRN3_uc011bgg.1_Missense_Mutation_p.G565R	p.G845R	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2629	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	845					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2533G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	2.896	-0.228648	0.06022	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09911	2.93;3.64;3.53;3.53;3.65	5.16	3.35	0.38373	.	0.910504	0.09696	N	0.767755	T	0.09202	0.0227	L	0.44542	1.39	0.09310	N	1	B;B;B;P	0.38711	0.025;0.414;0.003;0.643	B;B;B;B	0.28011	0.02;0.053;0.004;0.085	T	0.25537	-1.0129	10	0.33940	T	0.23	.	10.378	0.44094	0.0:0.7902:0.1355:0.0743	.	567;562;562;845	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	R	845;567;502;502;562	ENSP00000263666:G845R;ENSP00000442026:G567R;ENSP00000418168:G502R;ENSP00000418484:G502R;ENSP00000418624:G562R	ENSP00000263666:G845R	G	-	1	0	PDZRN3	73515874	0.000000	0.05858	0.006000	0.13384	0.235000	0.25334	1.047000	0.30367	0.560000	0.29169	-0.150000	0.13652	GGG		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		14	11	0	0	0	0.146539	0	14	11		
PARP14	54625	broad.mit.edu	37	3	122446797	122446797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:122446797C>T	ENST00000474629.2	+	16	5346	c.5080C>T	c.(5080-5082)Cga>Tga	p.R1694*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1694	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACACGTCAATCGAAATGGCTT	0.507																																						uc003efq.3		NaN																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(5080-5082)CGA>TGA		poly (ADP-ribose) polymerase family, member 14							61.0	61.0	61.0					3																	122446797		2002	4178	6180	SO:0001587	stop_gained	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122446797C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5080C>T	3.37:g.122446797C>T	ENSP00000418194:p.Arg1694*					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Nonsense_Mutation_p.R1411*	p.R1694*	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	16	5139	+			1694			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	37	c.5080C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	41	8.912827	0.99000	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	.	.	.	5.63	-3.18	0.05186	.	4.808330	0.00541	N	0.000229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.543	0.07818	0.2494:0.4228:0.2374:0.0904	.	.	.	.	X	1694;1613;690	.	ENSP00000381224:R690X	R	+	1	2	PARP14	123929487	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-3.339000	0.00506	-1.013000	0.03383	-0.868000	0.02995	CGA		0.507	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		28	35	0	0	0	0.173368	0	28	35		
MYLK	4638	broad.mit.edu	37	3	123419212	123419212	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:123419212G>A	ENST00000475616.1	-	15	3102	c.3103C>T	c.(3103-3105)Ctg>Ttg	p.L1035L	MYLK_ENST00000359169.1_Silent_p.L1035L|MYLK_ENST00000346322.5_Silent_p.L966L|MYLK_ENST00000360772.3_Silent_p.L1035L|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.L1035L			Q15746	MYLK_HUMAN	myosin light chain kinase	1035	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATTGGCTTCAGGGTCTCAGCA	0.577																																						uc003ego.2		NaN																	0				ovary(6)|skin(2)|stomach(1)	9						c.(3103-3105)CTG>TTG		myosin light chain kinase isoform 1							143.0	149.0	147.0					3																	123419212		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419212G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3103C>T	3.37:g.123419212G>A						MYLK_uc011bjw.1_Silent_p.L1035L|MYLK_uc003egp.2_Silent_p.L966L|MYLK_uc003egq.2_Silent_p.L1035L|MYLK_uc003egr.2_Silent_p.L966L|MYLK_uc003egs.2_Silent_p.L859L|MYLK_uc003egt.2_Silent_p.L226L	p.L1035L	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	18	3385	-		Lung NSC(201;0.0496)	1035			2-4.|6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3103C>T	CCDS46896.1																																																																																				0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		112	124	0	0	0	0.139131	0	112	124		
ZIC4	84107	broad.mit.edu	37	3	147114157	147114157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr3:147114157C>T	ENST00000383075.3	-	3	682	c.170G>A	c.(169-171)cGt>cAt	p.R57H	ZIC4_ENST00000525172.2_Missense_Mutation_p.R107H|ZIC4_ENST00000473123.1_Missense_Mutation_p.R57H|ZIC4_ENST00000425731.3_Missense_Mutation_p.R95H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.R57H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	57						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATTCAAAGGACGGCTGGGGGA	0.726																																						uc003ewd.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(169-171)CGT>CAT		zinc finger protein of the cerebellum 4							13.0	17.0	15.0					3																	147114157		1860	4072	5932	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114157C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.170G>A	3.37:g.147114157C>T	ENSP00000372553:p.Arg57His					ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.R107H	p.R57H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	443	-			57					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.170G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	9.047	0.991014	0.18966	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.01	4.13	0.48395	.	0.692121	0.12459	N	0.467075	T	0.12561	0.0305	N	0.02225	-0.63	0.80722	D	1	B;B	0.27853	0.002;0.191	B;B	0.26770	0.002;0.073	T	0.12785	-1.0534	10	0.17832	T	0.49	.	16.5145	0.84296	0.0:0.9293:0.0:0.0707	.	107;57	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	H	57;95;107;57;57;57;57;57	ENSP00000372553:R57H;ENSP00000397695:R95H;ENSP00000435509:R107H;ENSP00000417855:R57H;ENSP00000420775:R57H;ENSP00000420627:R57H	ENSP00000372553:R57H	R	-	2	0	ZIC4	148596847	1.000000	0.71417	0.837000	0.33122	0.416000	0.31233	3.721000	0.54941	0.524000	0.28502	-1.134000	0.01955	CGT		0.726	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1				12	32	0	0	0	0.11911	0	12	32		
GABRA4	2557	broad.mit.edu	37	4	46930266	46930266	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:46930266C>T	ENST00000264318.3	-	9	2623	c.1641G>A	c.(1639-1641)atG>atA	p.M547I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	547					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTGATTTCTCCATAGTGTCCT	0.303																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1639-1641)ATG>ATA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48.0	51.0	50.0					4																	46930266		2203	4299	6502	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930266C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1641G>A	4.37:g.46930266C>T	ENSP00000264318:p.Met547Ile						p.M547I	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1780	-			547					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1641G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452611	0.63290	.	.	ENSG00000109158	ENST00000264318	T	0.80566	-1.39	5.52	4.67	0.58626	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.045897	0.85682	D	0.000000	T	0.72787	0.3504	L	0.46157	1.445	0.48395	D	0.999645	B	0.31153	0.31	B	0.23018	0.043	T	0.73148	-0.4074	10	0.49607	T	0.09	.	13.2206	0.59885	0.0:0.9236:0.0:0.0764	.	547	P48169	GBRA4_HUMAN	I	547	ENSP00000264318:M547I	ENSP00000264318:M547I	M	-	3	0	GABRA4	46625023	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.959000	0.70339	2.765000	0.95021	0.650000	0.86243	ATG		0.303	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1				3	119	0	0	0	0.150653	0	3	119		
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:71347033C>T	ENST00000304887.5	+	3	762	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000413702.1_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587																																						uc011cat.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(571-573)GCC>GTC		mucin 7, secreted precursor							359.0	290.0	314.0					4																	71347033		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347033C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.572C>T	4.37:g.71347033C>T	ENSP00000302021:p.Ala191Val					MUC7_uc011cau.1_Missense_Mutation_p.A191V|MUC7_uc003hfj.2_Missense_Mutation_p.A191V|uc011cav.1_RNA	p.A191V	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	860	+			191			2.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.572C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097885	0.20552	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59772	0.24;0.24;0.24	1.73	1.73	0.24493	.	.	.	.	.	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	1	B	0.32573	0.376	B	0.32583	0.148	T	0.17228	-1.0376	8	.	.	.	.	4.1514	0.10240	0.0:0.792:0.0:0.208	.	191	Q8TAX7	MUC7_HUMAN	V	191	ENSP00000407422:A191V;ENSP00000400585:A191V;ENSP00000302021:A191V	.	A	+	2	0	MUC7	71381622	0.000000	0.05858	0.058000	0.19502	0.018000	0.09664	0.323000	0.19593	1.273000	0.44346	0.655000	0.94253	GCC		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291		4	154	0	0	0	0.150653	0	4	154		
EXOSC9	5393	broad.mit.edu	37	4	122728756	122728756	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr4:122728756G>A	ENST00000243498.5	+	6	692	c.584G>A	c.(583-585)aGt>aAt	p.S195N	EXOSC9_ENST00000379663.3_Missense_Mutation_p.S195N|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Missense_Mutation_p.S179N	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	195	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ATTTGTGTCAGTTTTGCCTTT	0.368																																						uc003iea.2		NaN																	0					0						c.(583-585)AGT>AAT		exosome component 9 isoform 2							218.0	192.0	201.0					4																	122728756		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122728756G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.584G>A	4.37:g.122728756G>A	ENSP00000243498:p.Ser195Asn					EXOSC9_uc003idz.2_Missense_Mutation_p.S195N|EXOSC9_uc003ieb.2_Missense_Mutation_p.S179N|EXOSC9_uc010inp.1_RNA	p.S195N	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			6	692	+			195			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.584G>A	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	36	5.670948	0.96754	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	6.16	6.16	0.99307	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.85373	2.75	0.80722	D	1	P;P;P	0.46020	0.805;0.689;0.871	B;B;P	0.53809	0.211;0.363;0.735	T	0.71616	-0.4539	10	0.72032	D	0.01	-29.8041	20.8598	0.99761	0.0:0.0:1.0:0.0	.	179;195;195	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	N	195;195;149;179	ENSP00000243498:S195N;ENSP00000368984:S195N;ENSP00000422205:S149N;ENSP00000425782:S179N	ENSP00000243498:S195N	S	+	2	0	EXOSC9	122948206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.481000	0.97933	2.937000	0.99478	0.650000	0.86243	AGT		0.368	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2		NM_005033		10	77	0	0	0	0.09319	0	10	77		
ADAMTS12	81792	broad.mit.edu	37	5	33576989	33576989	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:33576989T>A	ENST00000504830.1	-	19	3477	c.3142A>T	c.(3142-3144)Atc>Ttc	p.I1048F	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I963F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1048	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|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 cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGCTGCTGATTGCTGGAGTG	0.557										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3142-3144)ATC>TTC		ADAM metallopeptidase with thrombospondin type 1							140.0	135.0	137.0					5																	33576989		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576989T>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3142A>T	5.37:g.33576989T>A	ENSP00000422554:p.Ile1048Phe	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.I963F	p.I1048F	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3305	-			1048			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3142A>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	7.210	0.595302	0.13875	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59224	0.28;0.28	5.08	-0.15	0.13416	.	1.154630	0.05997	N	0.647026	T	0.44435	0.1293	N	0.24115	0.695	0.09310	N	1	B;B	0.26195	0.144;0.089	B;B	0.27608	0.081;0.023	T	0.38156	-0.9674	10	0.41790	T	0.15	.	9.7022	0.40194	0.0:0.5426:0.0:0.4574	.	963;1048	P58397-3;P58397	.;ATS12_HUMAN	F	1048;963	ENSP00000422554:I1048F;ENSP00000344847:I963F	ENSP00000344847:I963F	I	-	1	0	ADAMTS12	33612746	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.595000	0.05727	-0.152000	0.11156	-0.250000	0.11733	ATC		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		40	52	0	0	0	0.124865	0	40	52		
PCDHB3	56132	broad.mit.edu	37	5	140482387	140482387	+	Missense_Mutation	SNP	G	G	T	rs113521664		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:140482387G>T	ENST00000231130.2	+	1	2154	c.2154G>T	c.(2152-2154)agG>agT	p.R718S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	718					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAGCAGGGCGGCCTCGG	0.667																																						uc003lio.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2152-2154)AGG>AGT		protocadherin beta 3 precursor							38.0	44.0	42.0					5																	140482387		2118	4109	6227	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482387G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2154G>T	5.37:g.140482387G>T	ENSP00000231130:p.Arg718Ser					uc003lin.2_5'Flank	p.R718S	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2154	+			718			Cytoplasmic (Potential).		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2154G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586253	0.46110	.	.	ENSG00000113205	ENST00000231130	T	0.11495	2.77	4.29	1.39	0.22231	.	.	.	.	.	T	0.12263	0.0298	M	0.72624	2.21	0.29530	N	0.852882	B	0.24043	0.096	B	0.20767	0.031	T	0.12553	-1.0543	9	0.52906	T	0.07	.	5.453	0.16574	0.176:0.0:0.6644:0.1595	.	718	Q9Y5E6	PCDB3_HUMAN	S	718	ENSP00000231130:R718S	ENSP00000231130:R718S	R	+	3	2	PCDHB3	140462571	0.994000	0.37717	0.127000	0.21898	0.137000	0.21094	1.358000	0.34102	0.362000	0.24319	-0.335000	0.08231	AGG		0.667	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2		NM_018937		90	82	1	0	1.54771e-57	0.139131	1.81456e-57	90	82		
PCDHB14	56122	broad.mit.edu	37	5	140604519	140604519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:140604519G>A	ENST00000239449.4	+	1	1442	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	PCDHB14_ENST00000515856.2_Missense_Mutation_p.G328D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACTCAGGCACCAACGCC	0.647																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NaN																	0				ovary(1)	1						c.(1441-1443)GGC>GAC		protocadherin beta 14 precursor							103.0	109.0	107.0					5																	140604519		2203	4298	6501	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604519G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1442G>A	5.37:g.140604519G>A	ENSP00000239449:p.Gly481Asp					PCDHB14_uc011dal.1_Missense_Mutation_p.G328D	p.G481D	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1442	+			481			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1442G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	16.20	3.055426	0.55325	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01005	5.45;5.45	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04363	0.0120	M	0.66939	2.045	0.20403	N	0.999903	D	0.89917	1.0	D	0.81914	0.995	T	0.30475	-0.9977	9	0.51188	T	0.08	.	11.5851	0.50914	0.0889:0.0:0.9111:0.0	.	481	Q9Y5E9	PCDBE_HUMAN	D	328;481	ENSP00000444518:G328D;ENSP00000239449:G481D	ENSP00000239449:G481D	G	+	2	0	PCDHB14	140584703	0.997000	0.39634	0.987000	0.45799	0.952000	0.60782	2.711000	0.47177	2.157000	0.67596	0.556000	0.70494	GGC		0.647	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2		NM_018934		70	124	0	0	0	0.139131	0	70	124		
WWC1	23286	broad.mit.edu	37	5	167835653	167835653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr5:167835653G>A	ENST00000265293.4	+	7	1364	c.862G>A	c.(862-864)Gga>Aga	p.G288R	WWC1_ENST00000521089.1_Missense_Mutation_p.G288R	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	288					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGACATCTCGGGAAGCGTGAG	0.592																																						uc003lzu.2		NaN																	0				ovary(2)|skin(2)|breast(1)	5						c.(862-864)GGA>AGA		WW and C2 domain containing 1 isoform 3							98.0	97.0	97.0					5																	167835653		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167835653G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.862G>A	5.37:g.167835653G>A	ENSP00000265293:p.Gly288Arg					WWC1_uc003lzv.2_Missense_Mutation_p.G288R|WWC1_uc011den.1_Missense_Mutation_p.G288R|WWC1_uc003lzw.2_Missense_Mutation_p.G87R	p.G288R	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	7	955	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	288					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.862G>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.619378|4.619378	0.87460|0.87460	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089	.|T;T	.|0.08193	.|3.12;3.15	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.066736|0.066736	0.64402|0.64402	D|D	0.000009|0.000009	T|T	0.30262|0.30262	0.0759|0.0759	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.998	.|D;D;D;D	.|0.79108	.|0.992;0.968;0.968;0.929	T|T	0.01608|0.01608	-1.1313|-1.1313	6|10	.|0.62326	.|D	.|0.03	.|.	18.7966|18.7966	0.91997|0.91997	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|288;194;194;288	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	E|R	249;64|288	.|ENSP00000265293:G288R;ENSP00000427772:G288R	.|ENSP00000265293:G288R	G|G	+|+	2|1	0|0	WWC1|WWC1	167768231|167768231	1.000000|1.000000	0.71417|0.71417	0.550000|0.550000	0.28217|0.28217	0.635000|0.635000	0.38103|0.38103	8.708000|8.708000	0.91372|0.91372	2.427000|2.427000	0.82271|0.82271	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2		NM_015238		15	176	0	0	0	0.160694	0	15	176		
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:1313343C>A	ENST00000296839.2	+	1	669	c.404C>A	c.(403-405)tCg>tAg	p.S135*		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687																																						uc003mtl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(403-405)TCG>TAG		forkhead box Q1							26.0	29.0	28.0					6																	1313343		2157	4217	6374	SO:0001587	stop_gained	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313343C>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.404C>A	6.37:g.1313343C>A	ENSP00000296839:p.Ser135*						p.S135*	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	669	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135			Fork-head.		Q9NS06	Nonsense_Mutation	SNP	ENST00000296839.2	37	c.404C>A	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158974	0.98103	.	.	ENSG00000164379	ENST00000296839	.	.	.	3.35	3.35	0.38373	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4722	0.61287	0.0:1.0:0.0:0.0	.	.	.	.	X	135	.	ENSP00000296839:S135X	S	+	2	0	FOXQ1	1258343	0.998000	0.40836	0.696000	0.30242	0.775000	0.43874	5.373000	0.66162	1.737000	0.51674	0.184000	0.17185	TCG		0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		31	25	1	0	1.04594e-18	0.086207	1.20549e-18	31	25		
GPX6	257202	broad.mit.edu	37	6	28478665	28478665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:28478665C>G	ENST00000474923.1	-	2	147	c.104G>C	c.(103-105)gGg>gCg	p.G35A	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000361902.1_Missense_Mutation_p.G35A			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	35					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GCCTGTTACCCCTTTGTTGCA	0.408																																						uc011dlj.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(103-105)GGG>GCG		glutathione peroxidase 6 precursor	Glutathione(DB00143)						113.0	102.0	106.0					6																	28478665		1908	4116	6024	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28478665C>G		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.104G>C	6.37:g.28478665C>G	ENSP00000417364:p.Gly35Ala					GPX6_uc010jrg.1_RNA	p.G35A	NM_182701	NP_874360	P59796	GPX6_HUMAN			2	154	-			35					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.104G>C		.	.	.	.	.	.	.	.	.	.	C	0.209	-1.038179	0.02013	.	.	ENSG00000198704	ENST00000361902;ENST00000474923;ENST00000399282	T;T	0.09630	4.29;2.96	4.12	-1.95	0.07548	.	1.624480	0.03752	N	0.256683	T	0.02230	0.0069	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38887	-0.9640	10	0.09590	T	0.72	.	5.0624	0.14564	0.0:0.2902:0.2777:0.4321	.	35	P59796	GPX6_HUMAN	A	35;35;34	ENSP00000354581:G35A;ENSP00000417364:G35A	ENSP00000354581:G35A	G	-	2	0	GPX6	28586644	0.000000	0.05858	0.109000	0.21407	0.008000	0.06430	0.287000	0.18920	-0.473000	0.06871	-1.202000	0.01658	GGG		0.408	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5				34	31	0	0	0	0.139131	0	34	31		
VPS52	6293	broad.mit.edu	37	6	33232186	33232186	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:33232186G>C	ENST00000445902.2	-	14	1707	c.1489C>G	c.(1489-1491)Cag>Gag	p.Q497E	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.Q372E	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	497					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCTAGGCGCTGGGGGTCAGTG	0.557																																						uc003odm.1		NaN																	0				ovary(4)|skin(1)	5						c.(1489-1491)CAG>GAG		vacuolar protein sorting 52							96.0	97.0	97.0					6																	33232186		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232186G>C	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1489C>G	6.37:g.33232186G>C	ENSP00000409952:p.Gln497Glu					VPS52_uc003odn.1_Missense_Mutation_p.Q308E	p.Q497E	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			14	1699	-			497					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1489C>G	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458457	0.26248	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.19	5.19	0.71726	.	0.110120	0.64402	D	0.000006	T	0.47655	0.1457	L	0.56769	1.78	0.51482	D	0.999924	B;B	0.25809	0.135;0.135	B;B	0.32289	0.143;0.09	T	0.41574	-0.9501	9	0.17369	T	0.5	-23.4149	16.6105	0.84881	0.0:0.0:1.0:0.0	.	308;497	B3KMF7;Q8N1B4	.;VPS52_HUMAN	E	497;475;372	.	ENSP00000414785:Q475E	Q	-	1	0	VPS52	33340164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.309000	0.72825	2.870000	0.98441	0.637000	0.83480	CAG		0.557	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2		NM_022553		43	51	0	0	0	0.139131	0	43	51		
PHF3	23469	broad.mit.edu	37	6	64390062	64390062	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:64390062G>A	ENST00000262043.3	+	3	746	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PHF3_ENST00000393387.1_Splice_Site_p.E136K|PHF3_ENST00000509330.1_Splice_Site_p.E136K			Q92576	PHF3_HUMAN	PHD finger protein 3	136					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATGGCACAAGGTAATCCTTT	0.368																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(406-408)GAA>AAA		PHD finger protein 3							111.0	111.0	111.0					6																	64390062		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64390062G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.406+1G>A	6.37:g.64390062G>A						PHF3_uc010kaf.1_Missense_Mutation_p.E136K|PHF3_uc003pem.2_Missense_Mutation_p.E89K|PHF3_uc010kag.1_Missense_Mutation_p.E48K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E48K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E136K	p.E136K	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		2	432	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		136					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.406G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115163	0.77210	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	T;T;T;T;T	0.58652	1.22;1.71;1.29;0.32;1.71	5.98	5.98	0.97165	.	0.177217	0.27189	N	0.020508	T	0.71508	0.3348	M	0.62723	1.935	0.51767	D	0.999938	D;D	0.89917	0.999;1.0	D;D	0.74023	0.913;0.982	T	0.72004	-0.4421	10	0.87932	D	0	-22.3254	20.452	0.99131	0.0:0.0:1.0:0.0	.	136;136	Q92576;D6R9X2	PHF3_HUMAN;.	K	48;136;89;136;136;66	ENSP00000425227:E48K;ENSP00000262043:E136K;ENSP00000424078:E89K;ENSP00000422841:E136K;ENSP00000377048:E136K	ENSP00000262043:E136K	E	+	1	0	PHF3	64448021	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.096000	0.76960	2.838000	0.97847	0.591000	0.81541	GAA		0.368	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			Missense_Mutation	77	73	0	0	0	0.139131	0	77	73		
RIMS1	22999	broad.mit.edu	37	6	72957746	72957747	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:72957746_72957747GG>CT	ENST00000521978.1	+	12	2157_2158	c.2157_2158GG>CT	c.(2155-2160)atGGaa>atCTaa	p.719_720ME>I*	RIMS1_ENST00000425662.2_Nonsense_Mutation_p.112_113ME>I*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.193_194ME>I*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.719_720ME>I*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.193_194ME>I*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.719_720ME>I*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.719_720ME>I*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.719_720ME>I*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.178_179ME>I*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.719_720ME>I*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.719_720ME>I*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.719_720ME>I*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	719					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCAGAAGATGGAAAGGCCTTC	0.332																																						uc003pga.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(2155-2160)ATGGAA>ATCTAA		regulating synaptic membrane exocytosis 1																																				SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72957746_72957747GG>CT	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	Exception_encountered	6.37:g.72957746_72957747delinsCT	ENSP00000428417:p.M719_E720delinsI*					RIMS1_uc011dyb.1_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.193_194ME>I*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.193_194ME>I*|RIMS1_uc010kar.2_Nonsense_Mutation_p.112_113ME>I*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.178_179ME>I*|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.345_346ME>I*|RIMS1_uc010kas.1_Nonsense_Mutation_p.178_179ME>I*	p.719_720ME>I*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			12	2234_2235	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	719_720					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	DNP	ENST00000521978.1	37	c.2157_2158GG>CT	CCDS47449.1																																																																																				0.332	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				22	61	0	0	0	0.115264	0	22	61		
OPRM1	4988	broad.mit.edu	37	6	154412526	154412526	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:154412526G>A	ENST00000330432.7	+	3	1320	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	OPRM1_ENST00000229768.5_Silent_p.E361E|OPRM1_ENST00000414028.2_Silent_p.E361E|OPRM1_ENST00000419506.2_Silent_p.E361E|OPRM1_ENST00000337049.4_Silent_p.E361E|OPRM1_ENST00000524163.1_Silent_p.E361E|OPRM1_ENST00000520708.1_Silent_p.E261E|OPRM1_ENST00000360422.4_Silent_p.E361E|OPRM1_ENST00000452687.2_Silent_p.E361E|OPRM1_ENST00000434900.2_Silent_p.E454E|OPRM1_ENST00000428397.2_Silent_p.E361E|OPRM1_ENST00000522236.1_Silent_p.E261E|OPRM1_ENST00000518759.1_Silent_p.E280E|OPRM1_ENST00000522555.1_Silent_p.E261E|OPRM1_ENST00000435918.2_Silent_p.E361E	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	361					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCAACATTGAGCAACAAAACT	0.448																																						uc003qpr.2		NaN																	0				ovary(1)	1						c.(1081-1083)GAG>GAA		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						70.0	68.0	69.0					6																	154412526		1920	4133	6053	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412526G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1083G>A	6.37:g.154412526G>A						OPRM1_uc011efc.1_Silent_p.E280E|OPRM1_uc011efd.1_Silent_p.E261E|OPRM1_uc011efe.1_Silent_p.E454E|OPRM1_uc003qpn.2_Silent_p.E361E|OPRM1_uc003qpo.1_Silent_p.E361E|OPRM1_uc011eff.1_Silent_p.E361E|OPRM1_uc011efg.1_Silent_p.E361E|OPRM1_uc011efh.1_Silent_p.E361E|OPRM1_uc003qpq.1_Silent_p.E361E|OPRM1_uc003qpt.1_Silent_p.E361E|OPRM1_uc011efi.1_Silent_p.E361E|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Silent_p.E261E|OPRM1_uc003qpu.2_Silent_p.E261E	p.E361E	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1320	+		Ovarian(120;0.196)	361			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.1083G>A	CCDS55070.1																																																																																				0.448	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2		NM_000914		3	109	0	0	0	0.150653	0	3	109		
FNDC1	84624	broad.mit.edu	37	6	159655154	159655154	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:159655154C>G	ENST00000297267.9	+	11	3810	c.3610C>G	c.(3610-3612)Ccc>Gcc	p.P1204A	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1141A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1204					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAAAGTGGCCCTCTTCCTC	0.632																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(3610-3612)CCC>GCC		fibronectin type III domain containing 1							18.0	21.0	20.0					6																	159655154		1899	4097	5996	SO:0001583	missense	84624					extracellular region		g.chr6:159655154C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3610C>G	6.37:g.159655154C>G	ENSP00000297267:p.Pro1204Ala					FNDC1_uc010kjw.1_Missense_Mutation_p.P1089A	p.P1204A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3810	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1204					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3610C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.83|12.83	2.056050|2.056050	0.36277|0.36277	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.07908	.|3.15;3.96	4.84|4.84	3.04|3.04	0.35103|0.35103	.|.	.|0.596788	.|0.16574	.|N	.|0.208489	T|T	0.03011|0.03011	0.0089|0.0089	L|L	0.32530|0.32530	0.975|0.975	0.28930|0.28930	N|N	0.891642|0.891642	.|P;B	.|0.40180	.|0.705;0.243	.|B;B	.|0.41510	.|0.359;0.097	T|T	0.34054|0.34054	-0.9844|-0.9844	5|10	.|0.66056	.|D	.|0.02	-16.5858|-16.5858	7.833|7.833	0.29353|0.29353	0.0:0.8043:0.0:0.1957|0.0:0.8043:0.0:0.1957	.|.	.|1141;1204	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	G|A	1099|1204;1141	.|ENSP00000297267:P1204A;ENSP00000342460:P1141A	.|ENSP00000297267:P1204A	A|P	+|+	2|1	0|0	FNDC1|FNDC1	159575144|159575144	0.211000|0.211000	0.23529|0.23529	0.987000|0.987000	0.45799|0.45799	0.588000|0.588000	0.36517|0.36517	0.069000|0.069000	0.14552|0.14552	1.027000|1.027000	0.39758|0.39758	0.557000|0.557000	0.71058|0.71058	GCC|CCC		0.632	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		5	15	0	0	0	0.038147	0	5	15		
FNDC1	84624	broad.mit.edu	37	6	159655190	159655190	+	Missense_Mutation	SNP	G	G	A	rs192765104	byFrequency	TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:159655190G>A	ENST00000297267.9	+	11	3846	c.3646G>A	c.(3646-3648)Gat>Aat	p.D1216N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D1153N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1216					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGACGCCGATGGGAGCCT	0.637													G|||	37	0.00738818	0.0174	0.0043	5008	,	,		15271	0.0		0.0089	False		,,,				2504	0.002					uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(3646-3648)GAT>AAT		fibronectin type III domain containing 1		G	ASN/ASP	38,3748		1,36,1856	12.0	16.0	14.0		3646	2.5	0.0	6		14	103,8129		2,99,4015	yes	missense	FNDC1	NM_032532.2	23	3,135,5871	AA,AG,GG		1.2512,1.0037,1.1732	possibly-damaging	1216/1895	159655190	141,11877	1893	4116	6009	SO:0001583	missense	84624					extracellular region		g.chr6:159655190G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3646G>A	6.37:g.159655190G>A	ENSP00000297267:p.Asp1216Asn					FNDC1_uc010kjw.1_Missense_Mutation_p.D1101N	p.D1216N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3846	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1216					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3646G>A	CCDS47512.1	13|13	0.005952380952380952|0.005952380952380952	8|8	0.016260162601626018|0.016260162601626018	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	4|4	0.005277044854881266|0.005277044854881266	G|G	11.25|11.25	1.582546|1.582546	0.28180|0.28180	0.010037|0.010037	0.012512|0.012512	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.08720|.	3.06;3.85|.	4.65|4.65	2.47|2.47	0.30058|0.30058	.|.	0.840377|.	0.10561|.	N|.	0.660265|.	T|T	0.11067|0.11067	0.0270|0.0270	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	B;B|.	0.27117|.	0.168;0.027|.	B;B|.	0.16722|.	0.016;0.007|.	T|T	0.26395|0.26395	-1.0104|-1.0104	10|5	0.25751|.	T|.	0.34|.	-1.7636|-1.7636	8.7497|8.7497	0.34609|0.34609	0.2797:0.0:0.7203:0.0|0.2797:0.0:0.7203:0.0	.|.	1153;1216|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	N|Q	1216;1153|1111	ENSP00000297267:D1216N;ENSP00000342460:D1153N|.	ENSP00000297267:D1216N|.	D|R	+|+	1|2	0|0	FNDC1|FNDC1	159575180|159575180	0.059000|0.059000	0.20769|0.20769	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	0.651000|0.651000	0.24873|0.24873	0.966000|0.966000	0.38159|0.38159	0.557000|0.557000	0.71058|0.71058	GAT|CGA		0.637	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		6	7	0	0	0	0.02938	0	6	7		
IGF2R	3482	broad.mit.edu	37	6	160517637	160517637	+	Silent	SNP	C	C	T	rs200731141		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:160517637C>T	ENST00000356956.1	+	45	6970	c.6822C>T	c.(6820-6822)acC>acT	p.T2274T	RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2274					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTTGGTACACCTCAGCCGTGT	0.522																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(6820-6822)ACC>ACT		insulin-like growth factor 2 receptor precursor							136.0	117.0	123.0					6																	160517637		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160517637C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6822C>T	6.37:g.160517637C>T							p.T2274T	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	45	6970	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2274			15.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.6822C>T	CCDS5273.1																																																																																				0.522	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		12	74	0	0	0	0.132662	0	12	74		
AMZ1	155185	broad.mit.edu	37	7	2740362	2740362	+	Missense_Mutation	SNP	C	C	G	rs368298498		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:2740362C>G	ENST00000312371.4	+	2	645	c.277C>G	c.(277-279)Cgg>Ggg	p.R93G	AMZ1_ENST00000407112.1_Missense_Mutation_p.R93G	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	93							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCGCCTGGCTCGGAAGCACAT	0.642																																						uc003smr.1		NaN																	0					0						c.(277-279)CGG>GGG		archaelysin family metallopeptidase 1							41.0	48.0	46.0					7																	2740362		2203	4297	6500	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740362C>G	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.277C>G	7.37:g.2740362C>G	ENSP00000308149:p.Arg93Gly					AMZ1_uc003sms.1_Missense_Mutation_p.R93G|AMZ1_uc011jwa.1_5'Flank	p.R93G	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	638	+		Ovarian(82;0.0779)	93					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.277C>G	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286105	0.59867	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.17213	2.29;2.29	4.34	4.34	0.51931	.	0.109676	0.39759	N	0.001269	T	0.41073	0.1143	M	0.70595	2.14	0.44771	D	0.997772	D;D	0.76494	0.996;0.999	D;D	0.79784	0.992;0.993	T	0.40905	-0.9538	10	0.87932	D	0	-39.735	15.04	0.71781	0.0:1.0:0.0:0.0	.	93;93	B3KRS0;Q400G9	.;AMZ1_HUMAN	G	93	ENSP00000308149:R93G;ENSP00000386020:R93G	ENSP00000308149:R93G	R	+	1	2	AMZ1	2706888	0.077000	0.21312	0.231000	0.23993	0.570000	0.35934	0.766000	0.26560	1.969000	0.57287	0.561000	0.74099	CGG		0.642	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1		NM_133463		25	44	0	0	0	0.183431	0	25	44		
ZP3	7784	broad.mit.edu	37	7	76069569	76069569	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:76069569A>G	ENST00000394857.3	+	6	892	c.834A>G	c.(832-834)atA>atG	p.I278M	ZP3_ENST00000416245.1_Missense_Mutation_p.I102M|ZP3_ENST00000467555.1_3'UTR|ZP3_ENST00000336517.4_Missense_Mutation_p.I227M	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	278	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CCTTGCAGATATACATCACCT	0.502																																						uc003ufd.3		NaN																	0					0						c.(832-834)ATA>ATG		zona pellucida glycoprotein 3 isoform 1							74.0	67.0	69.0					7																	76069569		2199	4279	6478	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76069569A>G	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.834A>G	7.37:g.76069569A>G	ENSP00000378326:p.Ile278Met					ZP3_uc003ufc.3_Missense_Mutation_p.I227M|ZP3_uc003ufe.2_Missense_Mutation_p.I186M	p.I278M	NM_001110354	NP_001103824	P21754	ZP3_HUMAN			6	844	+			278			Extracellular (Potential).|ZP.		Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.834A>G	CCDS47618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.17|19.17	3.775577|3.775577	0.70107|0.70107	.|.	.|.	ENSG00000188372|ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245|ENST00000394860	D;D;D|.	0.83755|.	-1.76;-1.76;-1.76|.	4.33|4.33	-8.66|-8.66	0.00866|0.00866	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);|.	0.247194|.	0.38111|.	U|.	0.001811|.	T|T	0.64483|0.64483	0.2602|0.2602	M|M	0.76727|0.76727	2.345|2.345	0.40424|0.40424	D|D	0.979877|0.979877	P;P|.	0.45531|.	0.86;0.808|.	P;P|.	0.62649|.	0.853;0.905|.	T|T	0.71695|0.71695	-0.4515|-0.4515	10|5	0.62326|.	D|.	0.03|.	-4.784|-4.784	9.821|9.821	0.40883|0.40883	0.1784:0.6328:0.0:0.1888|0.1784:0.6328:0.0:0.1888	.|.	227;278|.	P21754-3;P21754|.	.;ZP3_HUMAN|.	M|C	227;278;278;102|100	ENSP00000337310:I227M;ENSP00000378326:I278M;ENSP00000411955:I102M|.	ENSP00000337310:I227M|.	I|Y	+|+	3|2	3|0	ZP3|ZP3	75907505|75907505	0.071000|0.071000	0.21146|0.21146	0.082000|0.082000	0.20525|0.20525	0.506000|0.506000	0.33950|0.33950	-0.913000|-0.913000	0.04042|0.04042	-1.383000|-1.383000	0.02106|0.02106	0.459000|0.459000	0.35465|0.35465	ATA|TAT		0.502	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1				7	1	0	0	0	0.058154	0	7	1		
TRRAP	8295	broad.mit.edu	37	7	98592453	98592453	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:98592453A>G	ENST00000359863.4	+	66	10458	c.10249A>G	c.(10249-10251)Aaa>Gaa	p.K3417E	TRRAP_ENST00000446306.3_Missense_Mutation_p.K3406E|TRRAP_ENST00000355540.3_Missense_Mutation_p.K3388E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3417					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGAAGCTGAAAGGCCAGTT	0.552																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10249-10251)AAA>GAA		transformation/transcription domain-associated							100.0	105.0	104.0					7																	98592453		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592453A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10249A>G	7.37:g.98592453A>G	ENSP00000352925:p.Lys3417Glu					TRRAP_uc011kis.1_Missense_Mutation_p.K3388E|TRRAP_uc003upr.2_Missense_Mutation_p.K3123E	p.K3417E	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10458	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3417					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10249A>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	31|31	5.065223|5.065223	0.93898|0.93898	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03212|.	4.01;4.01|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.80025|.	0.4548|.	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.997;0.997|.	D;D;D|.	0.74023|.	0.982;0.944;0.959|.	T|.	0.83060|.	-0.0148|.	10|.	0.72032|.	D|.	0.01|.	.|.	15.7093|15.7093	0.77612|0.77612	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3388;3145;3417|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	E|W	3417;3388;3405|3145	ENSP00000352925:K3417E;ENSP00000347733:K3388E|.	ENSP00000347733:K3388E|.	K|X	+|+	1|3	0|0	TRRAP|TRRAP	98430389|98430389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.339000|9.339000	0.96797|0.96797	2.101000|2.101000	0.63845|0.63845	0.533000|0.533000	0.62120|0.62120	AAA|TGA		0.552	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		80	19	0	0	0	0.139131	0	80	19		
TRIM56	81844	broad.mit.edu	37	7	100730858	100730858	+	Missense_Mutation	SNP	C	C	T	rs568098312		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:100730858C>T	ENST00000306085.6	+	3	562	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	89					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTGAAGGCCCGGGCCTGTGG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14048	0.0		0.0	False		,,,				2504	0.0				Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2		NaN																	0				kidney(1)|central_nervous_system(1)|skin(1)	3						c.(265-267)CGG>TGG		tripartite motif-containing 56							34.0	43.0	40.0					7																	100730858		2120	4234	6354	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730858C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.265C>T	7.37:g.100730858C>T	ENSP00000305161:p.Arg89Trp					TRIM56_uc003uxr.2_Missense_Mutation_p.R89W	p.R89W	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	496	+	Lung NSC(181;0.136)|all_lung(186;0.182)		89					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.265C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529776	0.27387	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.46819	0.86;1.22	3.71	1.7	0.24286	.	0.000000	0.41396	D	0.000891	T	0.51702	0.1690	L	0.34521	1.04	0.26243	N	0.978846	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.37056	-0.9722	10	0.49607	T	0.09	.	8.2437	0.31675	0.4751:0.5249:0.0:0.0	.	89;89	C9JI91;Q9BRZ2	.;TRI56_HUMAN	W	89	ENSP00000305161:R89W;ENSP00000404186:R89W	ENSP00000305161:R89W	R	+	1	2	TRIM56	100517578	0.003000	0.15002	0.442000	0.26870	0.205000	0.24178	0.037000	0.13840	0.430000	0.26230	0.591000	0.81541	CGG		0.706	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1		NM_030961		5	61	0	0	0	0.021553	0	5	61		
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						uc003vhb.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(535-537)CAG>CAA		forkhead box P2 isoform I							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q204Q|FOXP2_uc003vha.2_Silent_p.Q87Q|FOXP2_uc011kmu.1_Silent_p.Q196Q|FOXP2_uc011kmv.1_Silent_p.Q179Q|FOXP2_uc010ljz.1_Silent_p.Q87Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhd.2_Silent_p.Q179Q|FOXP2_uc003vhc.2_Silent_p.Q204Q	p.Q179Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN			5	911	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.537G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491		5	18	0	0	0	0.014758	0	5	18		
OR2F1	26211	broad.mit.edu	37	7	143657849	143657849	+	Silent	SNP	C	C	G			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:143657849C>G	ENST00000392899.1	+	1	823	c.786C>G	c.(784-786)ccC>ccG	p.P262P	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	262					signal transduction (GO:0007165)	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(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACATCCAGCCCCACTCCAGTC	0.473																																						uc003wds.1		NaN																	0				skin(2)|ovary(1)	3						c.(784-786)CCC>CCG		olfactory receptor, family 2, subfamily F,							139.0	110.0	120.0					7																	143657849		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657849C>G	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.786C>G	7.37:g.143657849C>G							p.P262P	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	830	+	Melanoma(164;0.0903)		262			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.786C>G	CCDS5887.1																																																																																				0.473	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1				4	63	0	0	0	0.150653	0	4	63		
CSMD1	64478	broad.mit.edu	37	8	2830727	2830727	+	Silent	SNP	G	G	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:2830727G>T	ENST00000520002.1	-	58	9393	c.8838C>A	c.(8836-8838)tcC>tcA	p.S2946S	CSMD1_ENST00000537824.1_Silent_p.S2945S|CSMD1_ENST00000602557.1_Silent_p.S2946S|CSMD1_ENST00000400186.3_Silent_p.S2888S|CSMD1_ENST00000602723.1_Silent_p.S2888S|CSMD1_ENST00000542608.1_Silent_p.S2887S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2946	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCATTTCACAGGAGAAGCGGA	0.552																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(8836-8838)TCC>TCA		CUB and Sushi multiple domains 1 precursor							101.0	106.0	104.0					8																	2830727		1954	4143	6097	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2830727G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8838C>A	8.37:g.2830727G>T						CSMD1_uc011kwj.1_Silent_p.S2275S|CSMD1_uc010lrg.2_Silent_p.S956S	p.S2946S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9228	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2946			Extracellular (Potential).|Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8838C>A		.	.	.	.	.	.	.	.	.	.	G	2.783	-0.253082	0.05829	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.63988	0.2558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62338	-0.6875	4	.	.	.	.	12.1634	0.54117	0.0782:0.0:0.9218:0.0	.	.	.	.	M	2363	.	.	L	-	1	2	CSMD1	2818134	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	2.173000	0.42472	2.423000	0.82170	0.655000	0.94253	CTG		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		5	103	1	0	1.23904e-05	0.014758	1.32685e-05	5	103		
CCAR2	57805	broad.mit.edu	37	8	22475219	22475219	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:22475219G>A	ENST00000308511.4	+	16	2250	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Silent_p.K667K|CCAR2_ENST00000520861.1_Silent_p.K342K			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	667					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CAGGAGCAAAGCTGGAGGATT	0.532																																						uc003xch.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1999-2001)AAG>AAA		p30 DBC protein							188.0	184.0	186.0					8																	22475219		2203	4300	6503	SO:0001819	synonymous_variant	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22475219G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2001G>A	8.37:g.22475219G>A						KIAA1967_uc003xci.2_Silent_p.K667K|KIAA1967_uc003xcj.1_Silent_p.K336K	p.K667K	NM_199205	NP_954675	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	16	2138	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	667					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	c.2001G>A	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207543	0.22205	.	.	ENSG00000158941	ENST00000520738	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	T	0.72078	0.3416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69533	-0.5120	4	.	.	.	-35.8879	15.6866	0.77415	0.0:0.0:1.0:0.0	.	.	.	.	N	359	.	.	S	+	2	0	KIAA1967	22531164	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.730000	0.47335	2.775000	0.95449	0.655000	0.94253	AGC		0.532	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1		NM_021174		6	91	0	0	0	0.021553	0	6	91		
ASAP1	50807	broad.mit.edu	37	8	131130435	131130435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:131130435G>A	ENST00000518721.1	-	20	2079	c.1852C>T	c.(1852-1854)Cat>Tat	p.H618Y	ASAP1_ENST00000357668.1_Missense_Mutation_p.H618Y	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	618					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.H618Y(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCAACCAAATGGAGAGATGTC	0.393																																						uc003yta.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(4)	4						c.(1852-1854)CAT>TAT		development and differentiation enhancing factor							79.0	78.0	78.0					8																	131130435		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130435G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1852C>T	8.37:g.131130435G>A	ENSP00000429900:p.His618Tyr					ASAP1_uc003ysz.1_Missense_Mutation_p.H429Y|ASAP1_uc011liw.1_Missense_Mutation_p.H611Y	p.H618Y	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			19	1880	-			618			ANK 1.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1852C>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.130636|5.130636	0.94473|0.94473	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.64438|.	-0.1;-0.1|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Ankyrin repeat-containing domain (4);|.	0.049094|.	0.85682|.	D|.	0.000000|.	T|T	0.60025|0.60025	0.2237|0.2237	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.993|.	D;D;P|.	0.66351|.	0.943;0.943;0.722|.	T|T	0.52997|0.52997	-0.8500|-0.8500	10|5	0.59425|.	D|.	0.04|.	.|.	18.6411|18.6411	0.91396|0.91396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	618;618;621|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	Y|L	621;618;618|438;31	ENSP00000350297:H618Y;ENSP00000429900:H618Y|.	ENSP00000344591:H621Y|.	H|P	-|-	1|2	0|0	ASAP1|ASAP1	131199617|131199617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	CAT|CCA		0.393	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482		3	81	0	0	0	0.150653	0	3	81		
KDM4C	23081	broad.mit.edu	37	9	7103807	7103807	+	Silent	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:7103807G>A	ENST00000381309.3	+	18	3112	c.2547G>A	c.(2545-2547)gaG>gaA	p.E849E	KDM4C_ENST00000381306.3_Silent_p.E849E|KDM4C_ENST00000442236.2_Silent_p.E594E|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Silent_p.E536E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	849					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TACTGATGGAGCCTGATGACT	0.552																																						uc003zkh.2		NaN																	0				ovary(1)	1						c.(2545-2547)GAG>GAA		jumonji domain containing 2C isoform 1							158.0	125.0	136.0					9																	7103807		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7103807G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2547G>A	9.37:g.7103807G>A						KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.E849E|KDM4C_uc011lmk.1_Silent_p.E594E|KDM4C_uc011lml.1_Silent_p.E536E	p.E849E	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			18	3127	+			849			PHD-type 2.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.2547G>A	CCDS6471.1																																																																																				0.552	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1		NM_015061		28	59	0	0	0	0.163468	0	28	59		
SPATA31C1	441452	broad.mit.edu	37	9	90536086	90536086	+	RNA	SNP	G	G	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:90536086G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCCTCTAGGGTCCAAAAATC	0.478																																						uc010mqi.2		NaN																	0					0						c.(1264-1266)GTC>ATC		family with sequence similarity 75, member C1							4.0	4.0	4.0					9																	90536086		670	1549	2219			441452							g.chr9:90536086G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536086G>A						FAM75C1_uc004apq.3_Missense_Mutation_p.V405I	p.V422I	NM_001145124	NP_001138596					4	1293	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1264G>A																																																																																					0.478	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1		NM_001145124		26	151	0	0	0	0.064281	0	26	151		
IKBKAP	8518	broad.mit.edu	37	9	111665223	111665223	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:111665223C>A	ENST00000374647.5	-	16	2058		c.e16-1		IKBKAP_ENST00000537196.1_Splice_Site	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein						chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAAGGTGACTCTGCAAGATTC	0.413																																						uc004bdm.3		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.e16-1		inhibitor of kappa light polypeptide gene							76.0	77.0	76.0					9																	111665223		2203	4300	6503	SO:0001630	splice_region_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111665223C>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1751-1G>T	9.37:g.111665223C>A						IKBKAP_uc004bdl.2_Splice_Site_p.E235_splice|IKBKAP_uc011lwc.1_Splice_Site_p.E470_splice|IKBKAP_uc010mtq.2_Splice_Site_p.E235_splice	p.E584_splice	NM_003640	NP_003631	O95163	ELP1_HUMAN			16	2271	-								Q5JSV2|Q9H327|Q9UG87	Splice_Site	SNP	ENST00000374647.5	37	c.1751_splice	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413687	0.42817	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9341	0.86199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IKBKAP	110705044	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	5.482000	0.66833	2.592000	0.87571	0.555000	0.69702	.		0.413	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			Intron	20	48	1	0	1.50039e-11	0.062417	1.70044e-11	20	48		
SEC16A	9919	broad.mit.edu	37	9	139369743	139369743	+	Silent	SNP	C	C	T			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr9:139369743C>T	ENST00000371706.3	-	1	1824	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	SEC16A_ENST00000431893.2_Silent_p.S597S|SEC16A_ENST00000290037.6_Silent_p.S597S|SEC16A_ENST00000313050.7_Silent_p.S775S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	597					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCGGGGCCGCCGAGCTTGGGT	0.607																																						uc004chx.2		NaN																	0					0						c.(2323-2325)TCG>TCA		SEC16 homolog A							23.0	25.0	24.0					9																	139369743		1958	4140	6098	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369743C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1791G>A	9.37:g.139369743C>T						SEC16A_uc004chv.3_Silent_p.S402S|SEC16A_uc004chw.2_Silent_p.S775S|SEC16A_uc010nbn.2_Silent_p.S775S|SEC16A_uc010nbo.1_Silent_p.S775S	p.S775S	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	2634	-		Myeloproliferative disorder(178;0.0511)	597					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.2325G>A																																																																																					0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		7	56	0	0	0	0.047766	0	7	56		
PNPLA4	8228	broad.mit.edu	37	X	7870171	7870171	+	Silent	SNP	G	G	A	rs150755827		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:7870171G>A	ENST00000381042.4	-	6	659	c.489C>T	c.(487-489)gaC>gaT	p.D163D	PNPLA4_ENST00000444736.1_Silent_p.D163D|PNPLA4_ENST00000537427.1_Silent_p.D76D	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	163	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGAGGCCTCCGTCCACCCACT	0.542																																						uc011mhq.1		NaN																	0					0						c.(487-489)GAC>GAT		patatin-like phospholipase domain containing 4		G	,,	1,3834		0,1,1631,571	92.0	76.0	82.0		489,228,489	-3.1	0.5	X	dbSNP_134	82	0,6727		0,0,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	PNPLA4	NM_001142389.1,NM_001172672.1,NM_004650.2	,,	0,1,4059,2442	AA,AG,GG,G		0.0,0.0261,0.0095	,,	163/254,76/167,163/254	7870171	1,10561	2203	4299	6502	SO:0001819	synonymous_variant	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7870171G>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.489C>T	X.37:g.7870171G>A						PNPLA4_uc011mhr.1_Silent_p.D163D|PNPLA4_uc011mhs.1_Silent_p.D76D	p.D163D	NM_004650	NP_004641	P41247	PLPL4_HUMAN			6	651	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	163			Patatin.		A8K1H3|B4E362|Q8WW83	Silent	SNP	ENST00000381042.4	37	c.489C>T	CCDS14129.1																																																																																				0.542	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1		NM_004650		26	4	0	0	0	0.116897	0	26	4		
ZFX	7543	broad.mit.edu	37	X	24225885	24225885	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:24225885C>A	ENST00000379177.1	+	8	1280	c.853C>A	c.(853-855)Ctt>Att	p.L285I	ZFX_ENST00000379188.3_Missense_Mutation_p.L285I|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000539115.1_Missense_Mutation_p.L56I|ZFX_ENST00000338565.3_Missense_Mutation_p.L235I|ZFX_ENST00000304543.5_Missense_Mutation_p.L285I|ZFX_ENST00000540034.1_Missense_Mutation_p.L324I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	285					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGTTGAACTGCTTGATCAGAA	0.403																																					Esophageal Squamous(20;306 562 7346 32868 37983)	uc004dbf.2		NaN																	0				ovary(2)	2						c.(853-855)CTT>ATT		zinc finger protein, X-linked							242.0	193.0	209.0					X																	24225885		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225885C>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.853C>A	X.37:g.24225885C>A	ENSP00000368475:p.Leu285Ile					ZFX_uc004dbd.1_Missense_Mutation_p.L285I|ZFX_uc010nfx.1_Missense_Mutation_p.L56I|ZFX_uc004dbe.2_Missense_Mutation_p.L285I|ZFX_uc011mjv.1_Missense_Mutation_p.L324I|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_5'UTR	p.L285I	NM_003410	NP_003401	P17010	ZFX_HUMAN			6	1111	+			285					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.853C>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910099	0.52439	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.62	5.62	0.85841	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000013	T	0.43787	0.1263	L	0.42581	1.335	0.36694	D	0.879769	B;B;P	0.40000	0.194;0.033;0.698	B;B;B	0.39503	0.17;0.109;0.301	T	0.54642	-0.8263	10	0.51188	T	0.08	-5.9821	15.15	0.72689	0.0:0.8625:0.1375:0.0	.	324;285;289	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	I	56;285;54;285;285;324;235;80	ENSP00000438233:L56I;ENSP00000368486:L285I;ENSP00000368475:L285I;ENSP00000304985:L285I;ENSP00000441382:L324I;ENSP00000343384:L235I	ENSP00000304985:L285I	L	+	1	0	ZFX	24135806	0.999000	0.42202	0.987000	0.45799	0.975000	0.68041	2.892000	0.48625	2.501000	0.84356	0.594000	0.82650	CTT		0.403	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1		NM_003410		11	122	1	0	7.03913e-09	0.09319	7.7831e-09	11	122		
FAM47C	442444	broad.mit.edu	37	X	37027200	37027200	+	Silent	SNP	A	A	C	rs201507521		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:37027200A>C	ENST00000358047.3	+	1	769	c.717A>C	c.(715-717)ccA>ccC	p.P239P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	239										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGCCTCCAGAGACTGGAG	0.637																																						uc004ddl.1		NaN																	0				ovary(3)	3						c.(715-717)CCA>CCC		hypothetical protein LOC442444							48.0	46.0	47.0					X																	37027200		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027200A>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.717A>C	X.37:g.37027200A>C							p.P239P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	731	+			239					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.717A>C	CCDS35227.1																																																																																				0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		3	53	0	0	0	0.115264	0	3	53		
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						uc004ddl.1		NaN																	7	Substitution - Missense(7)		urinary_tract(2)|prostate(2)|lung(2)|skin(1)	ovary(3)	3						c.(1942-1944)AAT>GAT		hypothetical protein LOC442444							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1956	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1		NM_001013736		4	78	0	0	0	0.014758	0	4	78		
ZCCHC5	203430	broad.mit.edu	37	X	77912689	77912689	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:77912689T>A	ENST00000321110.1	-	2	1524	c.1229A>T	c.(1228-1230)gAt>gTt	p.D410V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	410							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTCGGGTCCATCTCCCTCTGC	0.537																																						uc004edc.1		NaN																	0				ovary(1)	1						c.(1228-1230)GAT>GTT		zinc finger, CCHC domain containing 5							144.0	120.0	128.0					X																	77912689		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912689T>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1229A>T	X.37:g.77912689T>A	ENSP00000316794:p.Asp410Val						p.D410V	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1525	-			410					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1229A>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.500033	0.01001	.	.	ENSG00000179300	ENST00000321110	T	0.17370	2.28	3.01	-0.559	0.11792	.	.	.	.	.	T	0.08670	0.0215	N	0.22421	0.69	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.36286	-0.9754	9	0.25751	T	0.34	.	3.5504	0.07844	0.0:0.3273:0.2883:0.3844	.	410	Q8N8U3	ZCHC5_HUMAN	V	410	ENSP00000316794:D410V	ENSP00000316794:D410V	D	-	2	0	ZCCHC5	77799345	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.045000	0.12003	-0.230000	0.09840	0.417000	0.27973	GAT		0.537	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1		NM_152694		53	9	0	0	0	0.139131	0	53	9		
NXF3	56000	broad.mit.edu	37	X	102334726	102334726	+	Silent	SNP	G	G	A	rs374880809		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:102334726G>A	ENST00000395065.3	-	13	1226	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	NXF3_ENST00000425644.1_Silent_p.S47S	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	375	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAATGCTCAGGGAGAAGCAGG	0.547																																						uc004eju.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1123-1125)TCC>TCT		nuclear RNA export factor 3							125.0	112.0	117.0					X																	102334726		2203	4300	6503	SO:0001819	synonymous_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102334726G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1125C>T	X.37:g.102334726G>A						NXF3_uc010noi.1_Silent_p.S225S	p.S375S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			13	1196	-			375			NTF2.		B4DYS7|Q5H9I1|Q9H1A9	Silent	SNP	ENST00000395065.3	37	c.1125C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	5.203	0.223050	0.09863	.	.	ENSG00000147206	ENST00000427570	.	.	.	4.44	-2.08	0.07254	.	.	.	.	.	T	0.38108	0.1028	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29971	-0.9994	4	.	.	.	-9.4925	0.355	0.00355	0.3724:0.1401:0.1876:0.2999	.	.	.	.	S	252	.	.	P	-	1	0	NXF3	102221382	0.732000	0.28121	0.147000	0.22382	0.550000	0.35303	-0.324000	0.07986	-0.502000	0.06596	0.600000	0.82982	CCT		0.547	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1		NM_022052		3	70	0	0	0	0.115264	0	3	70		
TEX13A	56157	broad.mit.edu	37	X	104463696	104463696	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chrX:104463696C>A	ENST00000413579.1	-	5	1291	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y	IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	394							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AAGCAAGTATCCCTCCGTGAA	0.488																																						uc004ema.2		NaN																	0				ovary(2)	2						c.(1180-1182)GAT>TAT		testis expressed sequence 13A							182.0	170.0	174.0					X																	104463696		2095	4204	6299	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104463696C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1180G>T	X.37:g.104463696C>A	ENSP00000399753:p.Asp394Tyr					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_3'UTR	p.D394Y	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			5	1292	-			394			RanBP2-type.		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1180G>T		.	.	.	.	.	.	.	.	.	.	C	10.09	1.256299	0.22965	.	.	ENSG00000133149	ENST00000413579	T	0.54279	0.58	3.41	-0.573	0.11742	Zinc finger, RanBP2-type (4);	0.472937	0.15708	N	0.248571	T	0.51958	0.1705	L	0.49640	1.575	0.09310	N	1	D	0.56746	0.977	P	0.56343	0.796	T	0.44787	-0.9305	10	0.87932	D	0	.	2.8392	0.05524	0.203:0.4194:0.0:0.3776	.	394	Q9BXU3	TX13A_HUMAN	Y	394	ENSP00000399753:D394Y	ENSP00000399753:D394Y	D	-	1	0	TEX13A	104350352	0.001000	0.12720	0.001000	0.08648	0.411000	0.31082	-0.539000	0.06113	-0.269000	0.09298	0.436000	0.28706	GAT		0.488	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_031274		121	19	1	0	3.6533e-62	0.139131	4.32043e-62	121	19		
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						uc001ffr.2		NaN																	0				large_intestine(1)	1						c.(2185-2190)CACCGG>CGG		pre-B-cell leukemia homeobox interacting protein				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_uc001ffs.2_In_Frame_Del_p.H700del|PBXIP1_uc010pep.1_In_Frame_Del_p.H574del	p.H729del	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2245_2247	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1		NM_020524		7	214	NaN	NaN	NaN	NaN	NaN	7	214	---	---
MLEC	9761	broad.mit.edu	37	12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)ctgdel	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783																																						uc001tyy.1		NaN																	0				ovary(1)	1						c.(49-51)CTGdel		malectin precursor				47,1473		16,15,729						-1.8	1.0			2	80,3128		23,34,1547	no	coding	MLEC	NM_014730.2		39,49,2276	A1A1,A1R,RR		2.4938,3.0921,2.6861				127,4601				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121125148_121125150delCTG	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.49_51delCTG	12.37:g.121125157_121125159delCTG	ENSP00000228506:p.Leu22del						p.L22del	NM_014730	NP_055545	Q14165	MLEC_HUMAN			1	200_202	+			22						In_Frame_Del	DEL	ENST00000228506.3	37	c.49_51delCTG	CCDS9206.1																																																																																				0.783	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2		NM_014730		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SLC25A30	253512	broad.mit.edu	37	13	45985521	45985522	+	Intron	INS	-	-	C			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr13:45985521_45985522insC	ENST00000539591.1	-	2	75							Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30						mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ATGGAGGCCAGCCCCCCGTACA	0.495																																						uc001vag.2		NaN																	0				breast(1)	1						c.(37-42)GGGCTGfs		solute carrier family 25, member 30																																				SO:0001627	intron_variant	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45985521_45985522insC	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.89-2312->G	13.37:g.45985527_45985527dupC						SLC25A30_uc010tfs.1_5'UTR|SLC25A30_uc001vah.2_5'UTR|SLC25A30_uc010tft.1_Intron	p.G13fs	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	2	176_177	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	13_14			Solcar 1.|Helical; Name=1; (Potential).		B2RN96|B4DZK3|F5H8H8	Frame_Shift_Ins	INS	ENST00000539591.1	37	c.39_40insG																																																																																					0.495	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding			XM_170736		59	24	NaN	NaN	NaN	NaN	NaN	59	24	---	---
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:7788146_7788148delGAG	ENST00000380358.4	+	1	23_25	c.22_24delGAG	c.(22-24)gagdel	p.E14del	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.7																																						uc002gjd.2		NaN																	0				breast(1)	1						c.(22-24)GAGdel		chromodomain helicase DNA binding protein 3				165,3171		21,123,1524						0.8	1.0			6	282,6252		34,214,3019	no	coding	CHD3	NM_001005271.2		55,337,4543	A1A1,A1R,RR		4.3159,4.946,4.5289				447,9423				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7788146_7788148delGAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.22_24delGAG	17.37:g.7788155_7788157delGAG	ENSP00000369716:p.Glu14del						p.E14del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN			1	24_26	+		Prostate(122;0.202)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000380358.4	37	c.22_24delGAG	CCDS32553.2																																																																																				0.700	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318052.1		NM_001005273		3	4	NaN	NaN	NaN	NaN	NaN	3	4	---	---
CRLF3	51379	broad.mit.edu	37	17	29112973	29112973	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr17:29112973delG	ENST00000324238.6	-	7	1160	c.1036delC	c.(1036-1038)ctgfs	p.L346fs	CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Frame_Shift_Del_p.L230fs	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	346					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCCCGCTGCAGAGAGTCATAT	0.368																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.3		NaN																	0					0						c.(1036-1038)CTGfs		cytokine receptor-like factor 3							184.0	164.0	171.0					17																	29112973		2203	4300	6503	SO:0001589	frameshift_variant	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29112973delG	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1036delC	17.37:g.29112973delG	ENSP00000318804:p.Leu346fs					CRLF3_uc010wbr.1_Frame_Shift_Del_p.L230fs	p.L346fs	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			7	1145	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	346					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Frame_Shift_Del	DEL	ENST00000324238.6	37	c.1036delC	CCDS32607.1																																																																																				0.368	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1				31	283	NaN	NaN	NaN	NaN	NaN	31	283	---	---
USP25	29761	broad.mit.edu	37	21	17250653	17250653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr21:17250653delG	ENST00000285679.6	+	24	3396	c.3027delG	c.(3025-3027)ttgfs	p.L1009fs	USP25_ENST00000285681.2_Frame_Shift_Del_p.L1041fs|USP25_ENST00000351097.5_Frame_Shift_Del_p.L404fs|USP25_ENST00000400183.2_Frame_Shift_Del_p.L1079fs	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1009					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGATTTTTTGCCAAAACTGC	0.363																																						uc002yjy.1		NaN																	0				ovary(3)|liver(2)	5						c.(3025-3027)TTGfs		ubiquitin specific peptidase 25							72.0	70.0	71.0					21																	17250653		2203	4300	6503	SO:0001589	frameshift_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250653delG	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3027delG	21.37:g.17250653delG	ENSP00000285679:p.Leu1009fs					USP25_uc011aby.1_Frame_Shift_Del_p.L1079fs|USP25_uc002yjz.1_Frame_Shift_Del_p.L1041fs|USP25_uc010gla.1_Frame_Shift_Del_p.L404fs	p.L1009fs	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	24	3244	+			1009					C0LSZ0|Q6DHZ9|Q9H9W1	Frame_Shift_Del	DEL	ENST00000285679.6	37	c.3027delG	CCDS33515.1																																																																																				0.363	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1				57	47	NaN	NaN	NaN	NaN	NaN	57	47	---	---
WRNIP1	56897	broad.mit.edu	37	6	2766344	2766346	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr6:2766344_2766346delAGG	ENST00000380773.4	+	1	697_699	c.488_490delAGG	c.(487-492)caggag>cag	p.E167del	WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380769.4_5'UTR|WRNIP1_ENST00000380771.4_In_Frame_Del_p.E167del	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				gcggaggcgcaggaggaggagga	0.798																																						uc003mtz.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(487-492)CAGGAG>CAG		Werner helicase interacting protein isoform 1			,	13,1631		5,3,814					,	3.2	0.8			1	27,3145		7,13,1566	no	coding,coding	WRNIP1	NM_130395.1,NM_020135.2	,	12,16,2380	A1A1,A1R,RR		0.8512,0.7908,0.8306	,	,		40,4776				SO:0001651	inframe_deletion	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2766344_2766346delAGG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.488_490delAGG	6.37:g.2766353_2766355delAGG	ENSP00000370150:p.Glu167del					WRNIP1_uc003mua.2_In_Frame_Del_p.E167del	p.E167del	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			1	679_681	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	167						In_Frame_Del	DEL	ENST00000380773.4	37	c.488_490delAGG	CCDS4475.1																																																																																				0.798	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1		NM_130395		3	4	NaN	NaN	NaN	NaN	NaN	3	4	---	---
KRBA1	84626	broad.mit.edu	37	7	149427255	149427255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr7:149427255delC	ENST00000485033.2	+	12	1646	c.1646delC	c.(1645-1647)tccfs	p.S549fs	KRBA1_ENST00000255992.10_Frame_Shift_Del_p.S609fs|KRBA1_ENST00000319551.8_Frame_Shift_Del_p.S549fs|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	610										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAAGCCCTCCCCGCTGCAC	0.682																																						uc003wfz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1828-1830)TCCfs		KRAB A domain containing 1							7.0	8.0	8.0					7																	149427255		1920	4092	6012	SO:0001589	frameshift_variant	84626							g.chr7:149427255delC	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1646delC	7.37:g.149427255delC	ENSP00000420112:p.Ser549fs					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Frame_Shift_Del_p.S217fs	p.S610fs	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		15	2228	+	Melanoma(164;0.165)|Ovarian(565;0.177)		610			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Frame_Shift_Del	DEL	ENST00000485033.2	37	c.1829delC																																																																																					0.682	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3		NM_032534		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
NUDCD1	84955	broad.mit.edu	37	8	110293311	110293312	+	Frame_Shift_Del	DEL	TG	TG	-	rs143668430		TCGA-DK-A3IM-01A-11D-A20D-08	TCGA-DK-A3IM-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780f4201-4e59-47b8-b3b7-d322a6162b2d	fdf4684d-6346-469c-b07b-5d4846a8816a	g.chr8:110293311_110293312delTG	ENST00000239690.4	-	6	1287_1288	c.913_914delCA	c.(913-915)cagfs	p.Q305fs	NUDCD1_ENST00000427660.2_Frame_Shift_Del_p.Q276fs	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGGCAAAAACTGTATTTGAATG	0.371																																						uc003ynb.3		NaN																	0				ovary(1)|breast(1)	2						c.(913-915)CAGfs		NudC domain containing 1 isoform 1																																				SO:0001589	frameshift_variant	84955							g.chr8:110293311_110293312delTG	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.913_914delCA	8.37:g.110293311_110293312delTG	ENSP00000239690:p.Gln305fs					NUDCD1_uc003yna.2_Frame_Shift_Del_p.Q276fs|NUDCD1_uc010mcl.2_Frame_Shift_Del_p.Q218fs|NUDCD1_uc010mcm.1_Frame_Shift_Del_p.Q218fs	p.Q305fs	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		6	1024_1025	-	all_neural(195;0.219)		305			CS.			Frame_Shift_Del	DEL	ENST00000239690.4	37	c.913_914delCA	CCDS6312.1																																																																																				0.371	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1		NM_032869		82	10	NaN	NaN	NaN	NaN	NaN	82	10	---	---
