#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MRPL20	55052	broad.mit.edu	37	1	1342362	1342362	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:1342362G>A	ENST00000344843.7	-	2	220	c.125C>T	c.(124-126)gCg>gTg	p.A42V	MRPL20_ENST00000482352.1_Missense_Mutation_p.A42V|RN7SL657P_ENST00000582431.1_RNA|RP4-758J18.13_ENST00000607307.1_lincRNA|MRPL20_ENST00000493287.1_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	42					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTTCTGACCGCCAACCTGTA	0.602																																						uc001afo.3		NA																	0					0						c.(124-126)GCG>GTG		mitochondrial ribosomal protein L20 precursor							166.0	190.0	182.0					1																	1342362		2203	4296	6499	SO:0001583	missense	55052						protein binding|rRNA binding	g.chr1:1342362G>A	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.125C>T	1.37:g.1342362G>A	ENSP00000341082:p.Ala42Val					MRPL20_uc010nyn.1_Missense_Mutation_p.A42V	p.A42V	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	221	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	42					B2RE41|B7Z746	Missense_Mutation	SNP	ENST00000344843.7	37	c.125C>T	CCDS26.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878822	0.72294	.	.	ENSG00000242485	ENST00000344843	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87835	0.2647	9	0.87932	D	0	-11.571	16.3636	0.83296	0.0:0.0:1.0:0.0	.	42;42	B7Z746;Q9BYC9	.;RM20_HUMAN	V	42	.	ENSP00000341082:A42V	A	-	2	0	MRPL20	1332225	1.000000	0.71417	0.769000	0.31535	0.010000	0.07245	8.034000	0.88864	2.397000	0.81536	0.567000	0.79289	GCG		0.602	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		6	422	0	0	0	0	6	422				
TNFRSF25	8718	broad.mit.edu	37	1	6521694	6521694	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:6521694G>A	ENST00000356876.3	-	10	1141	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	TNFRSF25_ENST00000377782.3_Missense_Mutation_p.R361C|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.R169C|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R315C|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R307C	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	352	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)		CCCAGCGTGCGCACGAACTCC	0.687																																						uc001ane.2		NA																	0				central_nervous_system(2)|breast(1)	3						c.(1054-1056)CGC>TGC		tumor necrosis factor receptor superfamily,							19.0	19.0	19.0					1																	6521694		2202	4295	6497	SO:0001583	missense	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6521694G>A	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.1054C>T	1.37:g.6521694G>A	ENSP00000349341:p.Arg352Cys					TNFRSF25_uc001ana.2_Missense_Mutation_p.R169C|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.R125C|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.R315C|TNFRSF25_uc001ang.2_Missense_Mutation_p.R307C|TNFRSF25_uc001anh.2_Missense_Mutation_p.R361C	p.R352C	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	1142	-	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)	352			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.1054C>T	CCDS71.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546523	0.86022	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.14	5.14	0.70334	Death (3);DEATH-like (2);	0.247460	0.21481	U	0.073834	D	0.98043	0.9355	M	0.73962	2.25	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	0.87578	0.992;0.992;0.994;0.996;0.994;0.998	D	0.98421	1.0577	10	0.87932	D	0	-16.6554	12.3166	0.54960	0.0:0.0:0.8306:0.1693	.	361;307;315;352;353;169	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	C	352;361;315;169;307	ENSP00000349341:R352C;ENSP00000367013:R361C;ENSP00000337713:R315C;ENSP00000326762:R169C;ENSP00000314451:R307C	ENSP00000314451:R307C	R	-	1	0	TNFRSF25	6444281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.318000	0.51975	2.381000	0.81170	0.650000	0.86243	CGC		0.687	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		8	35	0	0	0	0	8	35				
MYCL	4610	broad.mit.edu	37	1	40366778	40366778	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:40366778C>T	ENST00000372816.2	-	1	776	c.329G>A	c.(328-330)aGc>aAc	p.S110N	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372815.1_Missense_Mutation_p.S140N|MYCL_ENST00000429311.1_Missense_Mutation_p.S110N|MYCL_ENST00000397332.2_Missense_Mutation_p.S140N			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	110						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGCCGGTCGCTCACAGCTCT	0.726																																						uc001cer.1		NA								A							small cell lung 		0				lung(1)|liver(1)	2						c.(328-330)AGC>AAC		l-myc-1 proto-oncogene isoform 1							13.0	13.0	13.0					1																	40366778		2183	4267	6450	SO:0001583	missense	4610					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:40366778C>T		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.329G>A	1.37:g.40366778C>T	ENSP00000361903:p.Ser110Asn					MYCL1_uc001ces.1_Missense_Mutation_p.S110N|MYCL1_uc001cet.1_Missense_Mutation_p.S110N	p.S110N	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	546	-	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	110					A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	37	c.329G>A	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740526	0.49045	.	.	ENSG00000116990	ENST00000397332;ENST00000372816;ENST00000372815;ENST00000429311	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.05	4.06	0.47325	Transcription regulator Myc, N-terminal (1);	0.213578	0.50627	D	0.000105	T	0.20820	0.0501	L	0.38175	1.15	0.32418	N	0.549777	B;B	0.15473	0.013;0.012	B;B	0.20767	0.031;0.011	T	0.09707	-1.0662	10	0.40728	T	0.16	-17.9967	4.7268	0.12945	0.0:0.5466:0.2713:0.1821	.	110;110	P12524-2;P12524	.;MYCL1_HUMAN	N	140;110;140;110	ENSP00000380494:S140N;ENSP00000361903:S110N;ENSP00000361902:S140N;ENSP00000389358:S110N	ENSP00000361902:S140N	S	-	2	0	MYCL1	40139365	0.991000	0.36638	1.000000	0.80357	0.918000	0.54935	0.345000	0.19979	2.620000	0.88729	0.563000	0.77884	AGC		0.726	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		3	16	0	0	0	0	3	16				
CRYZ	1429	broad.mit.edu	37	1	75172795	75172795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:75172795G>A	ENST00000340866.5	-	7	811	c.724C>T	c.(724-726)Cga>Tga	p.R242*	CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000417775.1_Nonsense_Mutation_p.R242*|CRYZ_ENST00000370872.3_Nonsense_Mutation_p.R105*|CRYZ_ENST00000370871.3_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	242					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	ACTATCACTCGTCCTCCATGT	0.274																																						uc001dgk.2		NA																	0					0						c.(724-726)CGA>TGA		crystallin, zeta isoform a	Dicumarol(DB00266)						83.0	96.0	92.0					1																	75172795		2200	4294	6494	SO:0001587	stop_gained	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75172795G>A		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.724C>T	1.37:g.75172795G>A	ENSP00000339399:p.Arg242*					CRYZ_uc001dgj.2_Nonsense_Mutation_p.R242*|CRYZ_uc001dgl.2_Intron|CRYZ_uc001dgm.2_Nonsense_Mutation_p.R105*	p.R242*	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			8	1229	-			242					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Nonsense_Mutation	SNP	ENST00000340866.5	37	c.724C>T	CCDS665.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367510	0.95900	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370870	.	.	.	5.54	2.1	0.27182	.	0.113338	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6455	13.2947	0.60290	0.0:0.0:0.3295:0.6705	.	.	.	.	X	242;105;242;242	.	ENSP00000339399:R242X	R	-	1	2	CRYZ	74945383	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	2.197000	0.42696	0.771000	0.33359	-0.282000	0.10007	CGA		0.274	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			34	145	0	0	0	0	34	145				
SNX7	51375	broad.mit.edu	37	1	99161197	99161197	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:99161197A>G	ENST00000306121.3	+	5	772	c.763A>G	c.(763-765)Aac>Gac	p.N255D	SNX7_ENST00000529992.1_Missense_Mutation_p.N200D|SNX7_ENST00000370189.5_Missense_Mutation_p.N191D	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGAAATGAATAACTTTATTGA	0.383																																						uc010ouc.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(763-765)AAC>GAC		sorting nexin 7 isoform a							46.0	56.0	53.0					1																	99161197		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161197A>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.763A>G	1.37:g.99161197A>G	ENSP00000304429:p.Asn255Asp					SNX7_uc001dsa.2_Missense_Mutation_p.N191D|SNX7_uc010oud.1_Missense_Mutation_p.N200D	p.N255D	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	5	815	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	191					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.763A>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	7.304	0.613644	0.14066	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.21734	1.99;1.99;1.99	5.65	-1.86	0.07760	.	0.577696	0.20020	N	0.100928	T	0.01092	0.0036	N	0.00483	-1.445	0.25390	N	0.988532	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.10450	0.005;0.003;0.001	T	0.45396	-0.9264	10	0.13470	T	0.59	-8.4051	5.9273	0.19120	0.3217:0.2671:0.4112:0.0	.	200;255;191	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	D	191;200;255	ENSP00000359208:N191D;ENSP00000434731:N200D;ENSP00000304429:N255D	ENSP00000304429:N255D	N	+	1	0	SNX7	98933785	1.000000	0.71417	0.984000	0.44739	0.891000	0.51852	1.993000	0.40747	-0.136000	0.11475	-0.256000	0.11100	AAC		0.383	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			23	113	0	0	0	0	23	113				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc001end.3		NA																	4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	171	0	0	0	0	3	171				
HRNR	388697	broad.mit.edu	37	1	152187690	152187690	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:152187690T>A	ENST00000368801.2	-	3	6490	c.6415A>T	c.(6415-6417)Aga>Tga	p.R2139*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					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)			TGTCCTGATCTAGAGCCGTGT	0.572																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6415-6417)AGA>TGA		hornerin							155.0	172.0	166.0					1																	152187690		1598	3263	4861	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187690T>A	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.6415A>T	1.37:g.152187690T>A	ENSP00000357791:p.Arg2139*						p.R2139*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6491	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2139					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6415A>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	43	10.386565	0.99395	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.66	-7.32	0.01436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	4.1445	0.10209	0.1237:0.5525:0.153:0.1708	.	.	.	.	X	2139	.	ENSP00000357791:R2139X	R	-	1	2	HRNR	150454314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.924000	0.00169	-2.538000	0.00487	-0.323000	0.08544	AGA		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	699	0	0	0	0	17	699				
HRNR	388697	broad.mit.edu	37	1	152191224	152191224	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:152191224C>T	ENST00000368801.2	-	3	2956	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	961					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)			GACCTAGAGCCGTGTTGTTCG	0.537																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2881-2883)GGC>AGC		hornerin							284.0	274.0	278.0					1																	152191224		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191224C>T	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.2881G>A	1.37:g.152191224C>T	ENSP00000357791:p.Gly961Ser						p.G961S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2957	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		961			10		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2881G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.461	1.093070	0.20471	.	.	ENSG00000197915	ENST00000368801	T	0.02787	4.16	3.73	2.79	0.32731	.	.	.	.	.	T	0.01254	0.0041	L	0.44542	1.39	0.09310	N	1	D	0.63880	0.993	P	0.49140	0.601	T	0.36480	-0.9746	9	0.09338	T	0.73	.	7.4303	0.27124	0.0:0.876:0.0:0.124	.	961	Q86YZ3	HORN_HUMAN	S	961	ENSP00000357791:G961S	ENSP00000357791:G961S	G	-	1	0	HRNR	150457848	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.036000	0.03560	0.745000	0.32763	0.556000	0.70494	GGC		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		102	382	0	0	0	0	102	382				
OR10T2	128360	broad.mit.edu	37	1	158368907	158368907	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:158368907G>A	ENST00000334438.1	-	1	349	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	117						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(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TCCCATCACAGCAATGAGGAG	0.493																																						uc010pih.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(349-351)GCT>GTT		olfactory receptor, family 10, subfamily T,							122.0	121.0	122.0					1																	158368907		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368907G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.350C>T	1.37:g.158368907G>A	ENSP00000334115:p.Ala117Val						p.A117V	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	350	-	all_hematologic(112;0.0378)		117			Helical; Name=3; (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.350C>T	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351934	0.41700	.	.	ENSG00000186306	ENST00000334438	T	0.00695	5.83	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001554	T	0.00552	0.0018	L	0.56199	1.76	0.09310	N	0.999999	B	0.24426	0.103	B	0.18871	0.023	T	0.43909	-0.9362	10	0.62326	D	0.03	.	16.2659	0.82579	0.0:0.0:1.0:0.0	.	117	Q8NGX3	O10T2_HUMAN	V	117	ENSP00000334115:A117V	ENSP00000334115:A117V	A	-	2	0	OR10T2	156635531	0.017000	0.18338	0.995000	0.50966	0.122000	0.20287	1.848000	0.39309	2.355000	0.79922	0.650000	0.86243	GCT		0.493	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		4	155	0	0	0	0	4	155				
BRINP3	339479	broad.mit.edu	37	1	190423836	190423836	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:190423836T>G	ENST00000367462.3	-	2	416	c.185A>C	c.(184-186)gAt>gCt	p.D62A	BRINP3_ENST00000534846.1_Missense_Mutation_p.I24L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	62					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTCCACAAAATCTGTGTATTC	0.468																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(184-186)GAT>GCT		family with sequence similarity 5, member C							88.0	86.0	87.0					1																	190423836		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423836T>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.185A>C	1.37:g.190423836T>G	ENSP00000356432:p.Asp62Ala					FAM5C_uc010pot.1_Missense_Mutation_p.I24L	p.D62A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	417	-	Prostate(682;0.198)		62					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.185A>C	CCDS1373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.40|15.40	2.823217|2.823217	0.50739|0.50739	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000367462;ENST00000445957|ENST00000534846	D;T|T	0.83914|0.16457	-1.78;0.69|2.34	5.42|5.42	5.42|5.42	0.78866|0.78866	Membrane attack complex component/perforin (MACPF) domain (1);|.	0.058954|.	0.64402|.	D|.	0.000003|.	T|T	0.16981|0.16981	0.0408|0.0408	L|L	0.38175|0.38175	1.15|1.15	0.21604|0.21604	N|N	0.999626|0.999626	B|B	0.29481|0.12630	0.245|0.006	B|B	0.34489|0.12156	0.184|0.007	T|T	0.13072|0.13072	-1.0523|-1.0523	10|9	0.56958|0.72032	D|D	0.05|0.01	.|.	13.4268|13.4268	0.61030|0.61030	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	62|24	Q76B58|B7Z260	FAM5C_HUMAN|.	A|L	62|24	ENSP00000356432:D62A;ENSP00000393441:D62A|ENSP00000438022:I24L	ENSP00000356432:D62A|ENSP00000438022:I24L	D|I	-|-	2|1	0|0	FAM5C|FAM5C	188690459|188690459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.737000|4.737000	0.62066|0.62066	2.055000|2.055000	0.61198|0.61198	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		18	64	0	0	0	0	18	64				
CACNA1S	779	broad.mit.edu	37	1	201012531	201012531	+	Silent	SNP	G	G	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr1:201012531G>T	ENST00000362061.3	-	40	5152	c.4926C>A	c.(4924-4926)gtC>gtA	p.V1642V	CACNA1S_ENST00000367338.3_Silent_p.V1623V|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1642					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCAAGAAGACAGGTGACT	0.542											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4924-4926)GTC>GTA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						184.0	143.0	157.0					1																	201012531		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201012531G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4926C>A	1.37:g.201012531G>T			OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2118		p.V1642V	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			40	5153	-			1642			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.4926C>A	CCDS1407.1																																																																																				0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		33	112	1	0	3.11e-16	3.57e-16	33	112				
CDC123	8872	broad.mit.edu	37	10	12259436	12259436	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:12259436C>T	ENST00000281141.4	+	6	690	c.410C>T	c.(409-411)tCc>tTc	p.S137F	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.S137F	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	137					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTCAAGAGTTCCGATTTCATC	0.368																																						uc001ill.2		NA																	0				central_nervous_system(1)	1						c.(409-411)TCC>TTC		cell division cycle 123							135.0	115.0	122.0					10																	12259436		2203	4300	6503	SO:0001583	missense	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12259436C>T	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.410C>T	10.37:g.12259436C>T	ENSP00000281141:p.Ser137Phe					CDC123_uc001ilm.2_Missense_Mutation_p.S137F	p.S137F	NM_006023	NP_006014	O75794	CD123_HUMAN			6	694	+			137					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	c.410C>T	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759728	0.89932	.	.	ENSG00000151465	ENST00000429258;ENST00000281141;ENST00000378900;ENST00000442050;ENST00000455773	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91416	0.5155	9	0.87932	D	0	-21.5266	18.2633	0.90043	0.0:1.0:0.0:0.0	.	137	O75794	CD123_HUMAN	F	105;137;137;105;95	.	ENSP00000281141:S137F	S	+	2	0	CDC123	12299442	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.215000	0.77966	2.469000	0.83416	0.650000	0.86243	TCC		0.368	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		14	141	0	0	0	0	14	141				
C10orf111	221060	broad.mit.edu	37	10	15138710	15138710	+	Silent	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:15138710C>T	ENST00000378207.3	-	2	387	c.114G>A	c.(112-114)aaG>aaA	p.K38K	RPP38_ENST00000378197.4_5'Flank|RPP38_ENST00000378202.5_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	38						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						CTGCCTTTCTCTTTTCGGGCT	0.498																																						uc001inw.2		NA																	0					0						c.(112-114)AAG>AAA		hypothetical protein LOC221060							158.0	147.0	151.0					10																	15138710		2203	4300	6503	SO:0001819	synonymous_variant	221060					integral to membrane		g.chr10:15138710C>T	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.114G>A	10.37:g.15138710C>T						RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	p.K38K	NM_153244	NP_694976	Q8N326	CJ111_HUMAN			2	388	-			38					B2RAC4	Silent	SNP	ENST00000378207.3	37	c.114G>A	CCDS7107.1																																																																																				0.498	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		36	268	0	0	0	0	36	268				
ARID5B	84159	broad.mit.edu	37	10	63852230	63852230	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:63852230C>T	ENST00000279873.7	+	10	3418	c.3008C>T	c.(3007-3009)cCg>cTg	p.P1003L	ARID5B_ENST00000309334.5_Missense_Mutation_p.P760L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1003					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.P1003Q(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAAATGAGCCCGCAGAACATT	0.552																																						uc001jlt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(3007-3009)CCG>CTG		AT rich interactive domain 5B (MRF1-like)							70.0	78.0	76.0					10																	63852230		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852230C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3008C>T	10.37:g.63852230C>T	ENSP00000279873:p.Pro1003Leu						p.P1003L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	3034	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1003					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3008C>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293590	0.60086	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.54866	0.57;0.55	5.72	5.72	0.89469	.	0.174982	0.50627	D	0.000109	T	0.53642	0.1809	M	0.73962	2.25	0.80722	D	1	D	0.54772	0.968	B	0.35607	0.206	T	0.66089	-0.6010	10	0.87932	D	0	-15.3418	19.8646	0.96799	0.0:1.0:0.0:0.0	.	1003	Q14865	ARI5B_HUMAN	L	1003;760	ENSP00000279873:P1003L;ENSP00000308862:P760L	ENSP00000279873:P1003L	P	+	2	0	ARID5B	63522236	1.000000	0.71417	0.957000	0.39632	0.929000	0.56500	4.766000	0.62279	2.702000	0.92279	0.655000	0.94253	CCG		0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		38	207	0	0	0	0	38	207				
MYPN	84665	broad.mit.edu	37	10	69948722	69948722	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:69948722C>T	ENST00000358913.5	+	13	3252	c.2764C>T	c.(2764-2766)Cgt>Tgt	p.R922C	MYPN_ENST00000540630.1_Missense_Mutation_p.R922C|MYPN_ENST00000354393.2_Missense_Mutation_p.R647C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	922					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCGCTTGGAACGTACTCCTGT	0.413																																						uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(2764-2766)CGT>TGT		myopalladin							103.0	96.0	99.0					10																	69948722		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69948722C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2764C>T	10.37:g.69948722C>T	ENSP00000351790:p.Arg922Cys					MYPN_uc001jnn.3_Missense_Mutation_p.R647C|MYPN_uc001jno.3_Missense_Mutation_p.R922C|MYPN_uc009xpt.2_Missense_Mutation_p.R922C|MYPN_uc010qit.1_Missense_Mutation_p.R628C|MYPN_uc010qiu.1_RNA	p.R922C	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			14	2949	+			922					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2764C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720923	0.89205	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.60299	0.2;0.27;0.25	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.97	T	0.75750	-0.3208	9	.	.	.	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	922;647;922	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	647;647;922;922	ENSP00000346369:R647C;ENSP00000351790:R922C;ENSP00000441668:R922C	.	R	+	1	0	MYPN	69618728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.805000	0.55575	2.757000	0.94681	0.563000	0.77884	CGT		0.413	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		15	63	0	0	0	0	15	63				
ZCCHC24	219654	broad.mit.edu	37	10	81154151	81154151	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:81154151G>A	ENST00000372336.3	-	3	679	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.A105V|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	165							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CCGAAGCAGCGCTTTTTGCCC	0.567																																						uc001kak.2		NA																	0				breast(1)	1						c.(493-495)CGC>TGC		zinc finger, CCHC domain containing 24							141.0	113.0	122.0					10																	81154151		2203	4300	6503	SO:0001583	missense	219654						nucleic acid binding|zinc ion binding	g.chr10:81154151G>A	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.493C>T	10.37:g.81154151G>A	ENSP00000361411:p.Arg165Cys					ZCCHC24_uc010qlr.1_Missense_Mutation_p.A105V|ZCCHC24_uc009xrw.2_RNA	p.R165C	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN			3	680	-			165					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.493C>T	CCDS7359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.846844|2.846844	0.51164|0.51164	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372333|ENST00000372336	.|T	.|0.24151	.|1.87	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52108|0.52108	0.1714|0.1714	M|M	0.68952|0.68952	2.095|2.095	0.32176|0.32176	N|N	0.581046|0.581046	D|D	0.62365|0.89917	0.991|1.0	P|D	0.48795|0.87578	0.59|0.998	T|T	0.61272|0.61272	-0.7096|-0.7096	8|10	0.87932|0.87932	D|D	0|0	.|.	18.9773|18.9773	0.92742|0.92742	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105|165	Q5W133|Q8N2G6	.|ZCH24_HUMAN	V|C	105|165	.|ENSP00000361411:R165C	ENSP00000361408:A105V|ENSP00000361411:R165C	A|R	-|-	2|1	0|0	ZCCHC24|ZCCHC24	80824157|80824157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.792000|5.792000	0.69052|0.69052	2.479000|2.479000	0.83701|0.83701	0.514000|0.514000	0.50259|0.50259	GCG|CGC		0.567	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		42	174	0	0	0	0	42	174				
ZNF518A	9849	broad.mit.edu	37	10	97917661	97917661	+	RNA	SNP	G	G	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:97917661G>T	ENST00000534948.1	+	0	2439							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGCAAGTTCAGAAAAAGAAAT	0.323																																						uc001klp.2		NA																	0				ovary(1)	1						c.(1582-1584)GAA>TAA		zinc finger protein 518							107.0	110.0	109.0					10																	97917661		1838	4084	5922			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917661G>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917661G>T						ZNF518A_uc001klo.1_5'UTR|ZNF518A_uc001klq.2_Nonsense_Mutation_p.E528*|ZNF518A_uc001klr.2_Nonsense_Mutation_p.E528*	p.E528*	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	2439	+		Colorectal(252;0.0815)	528					A0PJI5|O15044|Q32MP4	Nonsense_Mutation	SNP	ENST00000534948.1	37	c.1582G>T																																																																																					0.323	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		36	223	1	0	4.66e-17	5.38e-17	36	223				
HMX3	340784	broad.mit.edu	37	10	124896943	124896943	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr10:124896943G>A	ENST00000357878.5	+	2	859	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	257					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGCTCGGAGCGAGCCGGCCTG	0.647																																						uc010quc.1		NA																	0					0						c.(769-771)CGA>CAA		H6 family homeobox 3							24.0	29.0	27.0					10																	124896943		2202	4300	6502	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896943G>A		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.770G>A	10.37:g.124896943G>A	ENSP00000350549:p.Arg257Gln						p.R257Q	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	770	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	257			Homeobox.		A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.770G>A	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901830	0.92035	.	.	ENSG00000188620	ENST00000357878	D	0.97455	-4.39	4.92	3.99	0.46301	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	.	15.1036	0.72303	0.0:0.1422:0.8578:0.0	.	257	A6NHT5	HMX3_HUMAN	Q	257	ENSP00000350549:R257Q	ENSP00000350549:R257Q	R	+	2	0	HMX3	124886933	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.606000	0.98325	1.242000	0.43836	0.555000	0.69702	CGA		0.647	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		12	65	0	0	0	0	12	65				
PPFIBP2	8495	broad.mit.edu	37	11	7670058	7670058	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:7670058A>T	ENST00000299492.4	+	19	2213	c.1825A>T	c.(1825-1827)Agg>Tgg	p.R609W	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R451W|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R466W|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R497W	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	609	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCACTCCACAGGAAGAAGCT	0.448																																						uc001mfj.3		NA																	0				ovary(2)|breast(2)	4						c.(1825-1827)AGG>TGG		PTPRF interacting protein, binding protein 2							159.0	166.0	163.0					11																	7670058		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7670058A>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1825A>T	11.37:g.7670058A>T	ENSP00000299492:p.Arg609Trp					PPFIBP2_uc010rbb.1_Missense_Mutation_p.R532W|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.R543W|PPFIBP2_uc010rbe.1_Missense_Mutation_p.R497W|PPFIBP2_uc001mfl.3_Missense_Mutation_p.R466W|PPFIBP2_uc009yfj.1_Missense_Mutation_p.R253W	p.R609W	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	19	2213	+			609			SAM 1.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1825A>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113216	0.77210	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	6.03	4.89	0.63831	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	H	0.94503	3.545	0.58432	D	0.999999	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	1.0;1.0;1.0;0.996;1.0;1.0	T	0.82412	-0.0470	10	0.87932	D	0	-23.969	10.6835	0.45828	0.6926:0.3074:0.0:0.0	.	497;497;532;451;466;609	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	W	609;451;532;497;466	ENSP00000299492:R609W;ENSP00000436498:R451W;ENSP00000435469:R497W;ENSP00000437321:R466W	ENSP00000299492:R609W	R	+	1	2	PPFIBP2	7626634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.224000	0.58593	1.080000	0.41073	0.533000	0.62120	AGG		0.448	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		57	233	0	0	0	0	57	233				
ELP4	26610	broad.mit.edu	37	11	31671745	31671745	+	Silent	SNP	A	A	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:31671745A>G	ENST00000350638.5	+	9	1154	c.1119A>G	c.(1117-1119)ttA>ttG	p.L373L	ELP4_ENST00000395934.2_Silent_p.L373L|ELP4_ENST00000379163.5_Silent_p.L374L|Z83001.1_ENST00000429821.1_RNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	373					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CTTTTAAATTAAAAAGGAAGC	0.269																																						uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(1117-1119)TTA>TTG		elongation protein 4 homolog							42.0	42.0	42.0					11																	31671745		1791	4060	5851	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31671745A>G	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1119A>G	11.37:g.31671745A>G						ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.L373L|ELP4_uc010rdz.1_Silent_p.L374L	p.L373L	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			9	1154	+	Lung SC(675;0.225)		373					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.1119A>G	CCDS7875.2																																																																																				0.269	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		16	69	0	0	0	0	16	69				
LRP4	4038	broad.mit.edu	37	11	46903411	46903411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:46903411G>A	ENST00000378623.1	-	20	2898	c.2656C>T	c.(2656-2658)Cga>Tga	p.R886*		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	886					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCCAGCTCGTTCAATCTTG	0.507																																						uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2656-2658)CGA>TGA		low density lipoprotein receptor-related protein							79.0	72.0	74.0					11																	46903411		2201	4299	6500	SO:0001587	stop_gained	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46903411G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2656C>T	11.37:g.46903411G>A	ENSP00000367888:p.Arg886*						p.R886*	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	20	2802	-			886			Extracellular (Potential).|LDL-receptor class B 8.		B2RN39|Q4AC85|Q5KTZ5	Nonsense_Mutation	SNP	ENST00000378623.1	37	c.2656C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	42	9.310423	0.99133	.	.	ENSG00000134569	ENST00000378623	.	.	.	5.94	2.68	0.31781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7858	0.46405	0.0638:0.0:0.589:0.3472	.	.	.	.	X	886	.	ENSP00000367888:R886X	R	-	1	2	LRP4	46859987	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.942000	0.56614	0.810000	0.34279	0.650000	0.86243	CGA		0.507	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		25	85	0	0	0	0	25	85				
KDELC2	143888	broad.mit.edu	37	11	108350193	108350193	+	Silent	SNP	G	G	T	rs183206038		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr11:108350193G>T	ENST00000323468.5	-	6	1193	c.1128C>A	c.(1126-1128)acC>acA	p.T376T	KDELC2_ENST00000375648.1_Silent_p.T320T|KDELC2_ENST00000434945.2_Silent_p.T320T|KDELC2_ENST00000532730.1_Intron	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	376						endoplasmic reticulum (GO:0005783)		p.T376T(1)		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)		AAGCAGCCACGGTCCCATCCA	0.408																																						uc001pkj.2		NA																	1	Substitution - coding silent(1)	p.T376T(1)	ovary(1)	ovary(1)	1						c.(1126-1128)ACC>ACA		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							68.0	66.0	67.0					11																	108350193		1946	4144	6090	SO:0001819	synonymous_variant	143888					endoplasmic reticulum lumen		g.chr11:108350193G>T	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.1128C>A	11.37:g.108350193G>T						KDELC2_uc001pki.2_Silent_p.T320T	p.T376T	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)	6	1194	-		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)	376					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	c.1128C>A	CCDS41711.1																																																																																				0.408	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		13	72	1	0	2.39e-15	2.73e-15	13	72				
GLI1	2735	broad.mit.edu	37	12	57862003	57862003	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:57862003C>T	ENST00000228682.2	+	10	1395	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	GLI1_ENST00000546141.1_Missense_Mutation_p.A394V|GLI1_ENST00000543426.1_Missense_Mutation_p.A307V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	435					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCAGAGGGTGCCATGGTGAGA	0.582																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1303-1305)GCC>GTC		GLI family zinc finger 1 isoform 1							37.0	38.0	38.0					12																	57862003		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57862003C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1304C>T	12.37:g.57862003C>T	ENSP00000228682:p.Ala435Val					GLI1_uc009zpq.2_Missense_Mutation_p.A307V	p.A435V	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1382	+			435					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1304C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354062	0.41700	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.12879	2.76;2.64;2.72;2.72	4.82	2.96	0.34315	.	0.426879	0.19376	N	0.115782	T	0.08447	0.0210	N	0.14661	0.345	0.32859	D	0.507673	B	0.10296	0.003	B	0.14578	0.011	T	0.07558	-1.0766	10	0.51188	T	0.08	.	9.5927	0.39557	0.0:0.7764:0.1427:0.0809	.	435	P08151	GLI1_HUMAN	V	307;435;394;394;307	ENSP00000437607:A307V;ENSP00000228682:A435V;ENSP00000441006:A394V;ENSP00000434408:A394V	ENSP00000228682:A435V	A	+	2	0	GLI1	56148270	0.008000	0.16893	0.975000	0.42487	0.535000	0.34838	2.171000	0.42453	0.538000	0.28769	-0.253000	0.11424	GCC		0.582	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		3	57	0	0	0	0	3	57				
KIF5A	3798	broad.mit.edu	37	12	57968982	57968982	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:57968982T>C	ENST00000455537.2	+	16	2106	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	KIF5A_ENST00000286452.5_Missense_Mutation_p.L522P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	611					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGGAGAACCTCCAGGTGGAG	0.562																																						uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(1831-1833)CTC>CCC		kinesin family member 5A							52.0	45.0	47.0					12																	57968982		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57968982T>C	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1832T>C	12.37:g.57968982T>C	ENSP00000408979:p.Leu611Pro					KIF5A_uc010srr.1_Missense_Mutation_p.L522P	p.L611P	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			16	2040	+			611					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1832T>C	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403746	0.42613	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85484	-1.99;-1.99	4.52	4.52	0.55395	.	0.146210	0.46758	D	0.000278	T	0.80539	0.4642	L	0.43152	1.355	0.80722	D	1	B;B	0.33883	0.43;0.43	B;B	0.36335	0.222;0.222	T	0.78705	-0.2100	10	0.32370	T	0.25	.	13.2727	0.60170	0.0:0.0:0.0:1.0	.	522;611	B7Z2M7;Q12840	.;KIF5A_HUMAN	P	611;522	ENSP00000408979:L611P;ENSP00000286452:L522P	ENSP00000286452:L522P	L	+	2	0	KIF5A	56255249	0.002000	0.14202	1.000000	0.80357	0.999000	0.98932	1.329000	0.33770	2.027000	0.59764	0.533000	0.62120	CTC		0.562	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		10	40	0	0	0	0	10	40				
KNTC1	9735	broad.mit.edu	37	12	123103082	123103082	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:123103082G>A	ENST00000333479.7	+	59	6316	c.6139G>A	c.(6139-6141)Gct>Act	p.A2047T	KNTC1_ENST00000450485.2_Missense_Mutation_p.A972T|KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_De_novo_Start_OutOfFrame|KNTC1_ENST00000534995.1_5'Flank	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2047					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAGTCTCATCGCTGTCCTCGA	0.338																																						uc001ucv.2		NA																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(6139-6141)GCT>ACT		Rough Deal homolog, centromere/kinetochore							69.0	66.0	67.0					12																	123103082		1845	4101	5946	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123103082G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6139G>A	12.37:g.123103082G>A	ENSP00000328236:p.Ala2047Thr					KNTC1_uc010taf.1_Missense_Mutation_p.A972T	p.A2047T	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	59	6302	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		2047					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.6139G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771775	0.49680	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000546125	T;T;T	0.33865	1.52;1.52;1.39	5.36	5.36	0.76844	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.246166	0.41396	D	0.000897	T	0.44603	0.1301	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.967	P;P	0.60415	0.874;0.454	T	0.14615	-1.0466	10	0.33141	T	0.24	-17.1929	10.5284	0.44963	0.089:0.0:0.911:0.0	.	972;2047	E7ES84;P50748	.;KNTC1_HUMAN	T	972;2047;208	ENSP00000397992:A972T;ENSP00000328236:A2047T;ENSP00000439119:A208T	ENSP00000328236:A2047T	A	+	1	0	KNTC1	121669035	0.963000	0.33076	0.927000	0.36925	0.610000	0.37248	1.779000	0.38624	2.678000	0.91216	0.563000	0.77884	GCT		0.338	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			19	57	0	0	0	0	19	57				
FAM101A	144347	broad.mit.edu	37	12	124798975	124798975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:124798975C>A	ENST00000389727.3	+	3	555	c.555C>A	c.(553-555)tgC>tgA	p.C185*	FAM101A_ENST00000324038.3_Nonsense_Mutation_p.C104*|FAM101A_ENST00000546355.1_Nonsense_Mutation_p.C104*|FAM101A_ENST00000338359.4_Nonsense_Mutation_p.C104*			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	185										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCCTGCACTGCAGCCTGGGCC	0.706																																						uc001ugd.1		NA																	0					0						c.(310-312)TGC>TGA		hypothetical protein LOC144347							34.0	36.0	35.0					12																	124798975		2203	4298	6501	SO:0001587	stop_gained	144347							g.chr12:124798975C>A		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.555C>A	12.37:g.124798975C>A	ENSP00000374377:p.Cys185*					FAM101A_uc001uge.1_Nonsense_Mutation_p.C104*	p.C104*	NM_181709	NP_859060	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	555	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		185					A5D8T5	Nonsense_Mutation	SNP	ENST00000389727.3	37	c.312C>A		.	.	.	.	.	.	.	.	.	.	c	35	5.449690	0.96205	.	.	ENSG00000178882	ENST00000324038;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.7	2.85	0.33270	.	0.114824	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-21.5138	11.262	0.49089	0.0:0.8473:0.0:0.1527	.	.	.	.	X	104;185;104;104	.	ENSP00000315626:C104X	C	+	3	2	FAM101A	123364928	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.387000	0.44389	0.398000	0.25338	-0.215000	0.12644	TGC		0.706	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		11	45	1	0	0.000673444	0.000716484	11	45				
RIMBP2	23504	broad.mit.edu	37	12	130921701	130921701	+	Missense_Mutation	SNP	C	C	T	rs139344487		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr12:130921701C>T	ENST00000261655.4	-	10	1904	c.1741G>A	c.(1741-1743)Gtt>Att	p.V581I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V489I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V489I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	581	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V581I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGGGGGAACGGCAGCAACT	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12608	0.0		0.0	False		,,,				2504	0.0					uc001uil.2		NA																	1	Substitution - Missense(1)		central_nervous_system(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1741-1743)GTT>ATT		RIM-binding protein 2		C	ILE/VAL	0,4396		0,0,2198	32.0	27.0	29.0		1741	-0.4	0.4	12	dbSNP_134	29	12,8580		0,12,4284	yes	missense	RIMBP2	NM_015347.4	29	0,12,6482	TT,TC,CC		0.1397,0.0,0.0924	benign	581/1053	130921701	12,12976	2198	4296	6494	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921701C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1741G>A	12.37:g.130921701C>T	ENSP00000261655:p.Val581Ile					RIMBP2_uc001uim.2_Missense_Mutation_p.V489I|RIMBP2_uc001uin.1_Missense_Mutation_p.V240I	p.V581I	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1905	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	581					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1741G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.791940	0.00623	0.0	0.001397	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30981	1.51;1.51;1.51	4.63	-0.405	0.12392	Fibronectin, type III (2);	0.055124	0.64402	N	0.000001	T	0.05090	0.0136	N	0.00224	-1.81	0.21878	N	0.999499	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.41980	-0.9478	10	0.02654	T	1	-12.8031	8.6509	0.34033	0.0:0.288:0.0:0.712	.	489;489;581	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	I	581;489;489;489	ENSP00000261655:V581I;ENSP00000440347:V489I;ENSP00000439159:V489I	ENSP00000261655:V581I	V	-	1	0	RIMBP2	129487654	1.000000	0.71417	0.405000	0.26409	0.009000	0.06853	1.767000	0.38501	-0.353000	0.08224	-0.367000	0.07326	GTT		0.662	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		7	8	0	0	0	0	7	8				
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr13:49076887C>T	ENST00000344532.3	-	11	1513	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90T|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369T|RCBTB2_ENST00000544904.1_3'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A364S(2)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACGTGACGGCGGGCGTGGCA	0.592																																						uc001vch.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|skin(1)	5						c.(1090-1092)GCC>ACC		regulator of chromosome condensation and BTB							67.0	60.0	62.0					13																	49076887		2202	4299	6501	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076887C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1090G>A	13.37:g.49076887C>T	ENSP00000345144:p.Ala364Thr					RCBTB2_uc010tgg.1_Missense_Mutation_p.A369T|RCBTB2_uc001vci.2_Missense_Mutation_p.A340T|RCBTB2_uc010tgh.1_Missense_Mutation_p.A90T|RCBTB2_uc001vcj.2_Missense_Mutation_p.A316T|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_3'UTR	p.A364T	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1461	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	364			RCC1 6.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1090G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717193	0.68844	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.75260	-0.02;-0.02;-0.92	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	L	0.60455	1.87	0.80722	D	1	D;P;D;P	0.64830	0.965;0.818;0.994;0.818	P;B;P;B	0.46585	0.506;0.217;0.521;0.217	T	0.74565	-0.3623	10	0.32370	T	0.25	.	19.956	0.97218	0.0:1.0:0.0:0.0	.	90;369;316;364	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	T	364;316;369;369;90	ENSP00000345144:A364T;ENSP00000389910:A369T;ENSP00000443862:A90T	ENSP00000345144:A364T	A	-	1	0	RCBTB2	47974888	1.000000	0.71417	0.949000	0.38748	0.103000	0.19146	4.656000	0.61483	2.788000	0.95919	0.557000	0.71058	GCC		0.592	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		27	119	0	0	0	0	27	119				
DOCK9	23348	broad.mit.edu	37	13	99554563	99554563	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr13:99554563G>A	ENST00000376460.1	-	12	1439	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A	DOCK9_ENST00000339416.2_Silent_p.A454A|DOCK9_ENST00000442173.1_Silent_p.A453A|DOCK9_ENST00000448493.2_Silent_p.A465A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	454					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGCATGGCGGCTTCATGAA	0.532																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(1360-1362)GCC>GCT		dedicator of cytokinesis 9 isoform a							60.0	66.0	64.0					13																	99554563		2113	4241	6354	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99554563G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1359C>T	13.37:g.99554563G>A						DOCK9_uc001vnw.2_Silent_p.A453A|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.A454A|DOCK9_uc010tis.1_Silent_p.A453A|DOCK9_uc010tit.1_Silent_p.A454A|DOCK9_uc010afu.1_Silent_p.A269A	p.A454A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			12	1417	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		454					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.1362C>T	CCDS45062.1																																																																																				0.532	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		15	49	0	0	0	0	15	49				
RAB2B	84932	broad.mit.edu	37	14	21936559	21936559	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr14:21936559G>A	ENST00000397762.1	-	5	419	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	107					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GAACTAGAGTGCTGCCGGGCA	0.423																																					Melanoma(131;1007 1750 28652 34486 42672)	uc010tlt.1		NA																	0				ovary(1)	1						c.(319-321)CAC>TAC		RAB2B protein isoform 1							73.0	71.0	72.0					14																	21936559		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21936559G>A	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.319C>T	14.37:g.21936559G>A	ENSP00000380869:p.His107Tyr					RAB2B_uc010tls.1_Missense_Mutation_p.H61Y|RAB2B_uc001wax.2_Missense_Mutation_p.H42Y|RAB2B_uc010ain.2_Intron	p.H107Y	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	5	420	-	all_cancers(95;0.000858)		107					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.319C>T	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278403	0.40294	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79352	-1.26	5.06	4.17	0.49024	Small GTP-binding protein domain (1);	0.084192	0.49305	D	0.000155	T	0.56321	0.1977	N	0.03930	-0.32	0.58432	D	0.999999	B;B	0.19935	0.02;0.04	B;B	0.28638	0.043;0.092	T	0.54708	-0.8253	10	0.51188	T	0.08	.	8.4493	0.32860	0.0821:0.0:0.7657:0.1522	.	107;42	Q8WUD1;Q6NZ33	RAB2B_HUMAN;.	Y	107	ENSP00000380869:H107Y	ENSP00000302005:H107Y	H	-	1	0	RAB2B	21006399	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.581000	0.60949	1.359000	0.45940	0.655000	0.94253	CAC		0.423	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			10	49	0	0	0	0	10	49				
TTC7B	145567	broad.mit.edu	37	14	91142993	91142993	+	Silent	SNP	G	G	A	rs149388931		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr14:91142993G>A	ENST00000328459.6	-	9	1147	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	TTC7B_ENST00000357056.2_Silent_p.D342D|RP11-661G16.1_ENST00000554967.1_RNA	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	342								p.D342D(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCAGCACAGCGTCCCGGTTGG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19900	0.001		0.0	False		,,,				2504	0.0					uc001xyp.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(2)	2						c.(1024-1026)GAC>GAT		tetratricopeptide repeat domain 7B		G		0,4406		0,0,2203	125.0	102.0	110.0		1026	-10.1	0.2	14	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTC7B	NM_001010854.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		342/844	91142993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91142993G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1026C>T	14.37:g.91142993G>A						TTC7B_uc010ats.2_RNA	p.D342D	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			9	1148	-		Melanoma(154;0.222)	342					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.1026C>T	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	0.952	-0.706004	0.03255	0.0	1.16E-4	ENSG00000165914	ENST00000554462	.	.	.	5.15	-10.1	0.00402	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66188	-0.5986	4	.	.	.	-13.7471	12.5361	0.56142	0.732:0.0:0.1834:0.0847	.	.	.	.	C	12	.	.	R	-	1	0	TTC7B	90212746	0.524000	0.26282	0.175000	0.22980	0.153000	0.21895	-0.170000	0.09897	-2.269000	0.00684	-2.956000	0.00083	CGC		0.532	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			17	98	0	0	0	0	17	98				
RASGRP1	10125	broad.mit.edu	37	15	38808519	38808519	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:38808519T>C	ENST00000310803.5	-	6	731	c.554A>G	c.(553-555)cAa>cGa	p.Q185R	RASGRP1_ENST00000558164.1_Missense_Mutation_p.Q185R|RASGRP1_ENST00000559830.1_Missense_Mutation_p.Q185R|RASGRP1_ENST00000539159.1_Missense_Mutation_p.Q137R|RASGRP1_ENST00000561180.1_Missense_Mutation_p.Q236R|RASGRP1_ENST00000450598.2_Missense_Mutation_p.Q185R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	185					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTTTATCCTTTGAGTAAGTTT	0.443																																						uc001zke.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(553-555)CAA>CGA		RAS guanyl releasing protein 1 isoform a							156.0	139.0	145.0					15																	38808519		1866	4095	5961	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38808519T>C	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.554A>G	15.37:g.38808519T>C	ENSP00000310244:p.Gln185Arg					RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.Q47R|RASGRP1_uc010bbg.2_Missense_Mutation_p.Q47R|RASGRP1_uc001zkd.3_Missense_Mutation_p.Q185R	p.Q185R	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	6	732	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	185					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.554A>G	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689302	0.88735	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.03	5.03	0.67393	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.68593	2.085	0.58432	D	0.999999	D;P;D;D	0.56968	0.971;0.645;0.963;0.978	P;P;P;P	0.61397	0.491;0.449;0.677;0.888	T	0.38001	-0.9681	10	0.23891	T	0.37	-20.4081	15.213	0.73241	0.0:0.0:0.0:1.0	.	185;185;185;185	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	R	185;185;185;185;137;185;185	ENSP00000310244:Q185R;ENSP00000388540:Q185R;ENSP00000444762:Q137R;ENSP00000413105:Q185R	ENSP00000310244:Q185R	Q	-	2	0	RASGRP1	36595811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	2.241000	0.73720	0.533000	0.62120	CAA		0.443	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		19	111	0	0	0	0	19	111				
VPS13C	54832	broad.mit.edu	37	15	62299547	62299547	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:62299547G>A	ENST00000261517.5	-	15	1323	c.1250C>T	c.(1249-1251)aCa>aTa	p.T417I	VPS13C_ENST00000249837.3_Missense_Mutation_p.T374I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T374I|VPS13C_ENST00000395896.4_Missense_Mutation_p.T417I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTAGACTGTGTTAACTTGTT	0.313																																						uc002agz.2		NA																	0				ovary(2)	2						c.(1249-1251)ACA>ATA		vacuolar protein sorting 13C protein isoform 2A							199.0	184.0	189.0					15																	62299547		2202	4300	6502	SO:0001583	missense	54832				protein localization			g.chr15:62299547G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1250C>T	15.37:g.62299547G>A	ENSP00000261517:p.Thr417Ile					VPS13C_uc002aha.2_Missense_Mutation_p.T374I|VPS13C_uc002ahb.1_Missense_Mutation_p.T417I|VPS13C_uc002ahc.1_Missense_Mutation_p.T374I	p.T417I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			15	1324	-			417						Missense_Mutation	SNP	ENST00000261517.5	37	c.1250C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306013	0.40795	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.37915	1.17;1.17;1.17	5.28	3.4	0.38934	.	0.221724	0.37393	N	0.002106	T	0.36936	0.0985	L	0.45698	1.435	0.47245	D	0.99936	P;P;P;P	0.45126	0.851;0.835;0.726;0.766	P;P;B;B	0.45856	0.493;0.495;0.219;0.205	T	0.15809	-1.0424	10	0.66056	D	0.02	.	11.7365	0.51767	0.1443:0.0:0.8557:0.0	.	374;417;374;417	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	374;417;417;417	ENSP00000249837:T374I;ENSP00000261517:T417I;ENSP00000379233:T417I	ENSP00000249837:T374I	T	-	2	0	VPS13C	60086839	0.999000	0.42202	0.024000	0.17045	0.586000	0.36452	2.803000	0.47924	0.599000	0.29845	-0.137000	0.14449	ACA		0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		11	73	0	0	0	0	11	73				
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTACCCAGAAGCAGAAGGTGG	0.542																																						uc010bhq.2		NA																	3	Substitution - Missense(3)		lung(1)|prostate(1)|autonomic_ganglia(1)		0						c.(169-171)AAG>AAT		mitogen-activated protein kinase kinase 1							169.0	159.0	162.0					15																	66727455		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66727455G>T	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.171G>T	15.37:g.66727455G>T	ENSP00000302486:p.Lys57Asn					MAP2K1_uc010ujp.1_Missense_Mutation_p.K35N	p.K57N	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			2	646	+			57						Missense_Mutation	SNP	ENST00000307102.5	37	c.171G>T	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914461	0.72983	.	.	ENSG00000169032	ENST00000307102	D	0.93366	-3.21	5.06	1.72	0.24424	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	D	0.93175	0.6569	10	0.44086	T	0.13	-30.8397	9.1637	0.37038	0.3678:0.0:0.6322:0.0	.	35;57	B4DFY5;Q02750	.;MP2K1_HUMAN	N	57	ENSP00000302486:K57N	ENSP00000302486:K57N	K	+	3	2	MAP2K1	64514509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.420000	0.34804	0.539000	0.28788	0.460000	0.39030	AAG		0.542	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			47	286	1	0	4.19e-23	4.87e-23	47	286				
PLIN1	5346	broad.mit.edu	37	15	90213327	90213327	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:90213327G>A	ENST00000300055.5	-	5	647	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PLIN1_ENST00000430628.2_Missense_Mutation_p.A161V	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	161					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.A161V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						AGCAAATTCCGCAGTGTCTCT	0.627																																						uc010upx.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(481-483)GCG>GTG		perilipin 1							35.0	35.0	35.0					15																	90213327		2200	4299	6499	SO:0001583	missense	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90213327G>A	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.482C>T	15.37:g.90213327G>A	ENSP00000300055:p.Ala161Val					PLIN1_uc002boh.2_Missense_Mutation_p.A161V	p.A161V	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN			5	592	-			161					Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	c.482C>T	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	G	1.589	-0.529466	0.04112	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.04809	3.55;3.55	5.21	1.15	0.20763	.	0.396364	0.25689	N	0.028948	T	0.03348	0.0097	L	0.59436	1.845	0.09310	N	1	P	0.38535	0.635	B	0.32090	0.14	T	0.34900	-0.9810	10	0.02654	T	1	-8.9149	4.924	0.13883	0.3061:0.0:0.5603:0.1336	.	161	O60240	PLIN1_HUMAN	V	161	ENSP00000300055:A161V;ENSP00000402167:A161V	ENSP00000300055:A161V	A	-	2	0	PLIN1	88014331	0.001000	0.12720	0.043000	0.18650	0.707000	0.40811	0.626000	0.24492	0.219000	0.20840	0.305000	0.20034	GCG		0.627	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		9	37	0	0	0	0	9	37				
OR4F15	390649	broad.mit.edu	37	15	102358822	102358822	+	Silent	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr15:102358822T>C	ENST00000332238.4	+	1	457	c.433T>C	c.(433-435)Tta>Cta	p.L145L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	145						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(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTATACTTTTTAGCCACTTC	0.408																																						uc010uts.1		NA																	0					0						c.(433-435)TTA>CTA		olfactory receptor, family 4, subfamily F,							224.0	209.0	214.0					15																	102358822		2203	4300	6503	SO:0001819	synonymous_variant	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358822T>C	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.433T>C	15.37:g.102358822T>C							p.L145L	NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	433	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		145			Helical; Name=4; (Potential).		B2RNQ5|Q6IF57|Q96R70	Silent	SNP	ENST00000332238.4	37	c.433T>C	CCDS32342.1																																																																																				0.408	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		36	241	0	0	0	0	36	241				
TAOK2	9344	broad.mit.edu	37	16	29990752	29990752	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:29990752T>G	ENST00000308893.4	+	8	1621	c.578T>G	c.(577-579)gTg>gGg	p.V193G	TAOK2_ENST00000279394.3_Missense_Mutation_p.V193G|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.V193G	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCACCCGAGGTGATCCTGGCC	0.582																																						uc002dva.1		NA																	0				ovary(1)	1						c.(577-579)GTG>GGG		TAO kinase 2 isoform 2							169.0	129.0	143.0					16																	29990752		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29990752T>G	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.578T>G	16.37:g.29990752T>G	ENSP00000310094:p.Val193Gly					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.V193G|TAOK2_uc002dvc.1_Missense_Mutation_p.V193G|TAOK2_uc010bzm.1_Missense_Mutation_p.V193G|TAOK2_uc002dvd.1_5'Flank	p.V193G	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			8	1361	+			193			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.578T>G	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197578	0.79015	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71222	-0.55;-0.55;-0.55	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.996;0.979	D;D;D;D	0.97110	1.0;0.998;0.996;0.996	D	0.93426	0.6781	9	.	.	.	.	14.6039	0.68463	0.0:0.0:0.0:1.0	.	377;193;193;193	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	G	193	ENSP00000310094:V193G;ENSP00000440336:V193G;ENSP00000279394:V193G	.	V	+	2	0	TAOK2	29898253	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.086000	0.62901	0.383000	0.25322	GTG		0.582	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		5	37	0	0	0	0	5	37				
ITGAL	3683	broad.mit.edu	37	16	30510407	30510407	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:30510407G>A	ENST00000356798.6	+	16	2025	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Silent_p.V532V|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	615					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCCGGCCCGTGGTGGATATGG	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1843-1845)GTG>GTA		integrin alpha L isoform a precursor	Efalizumab(DB00095)						105.0	73.0	84.0					16																	30510407		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510407G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1845G>A	16.37:g.30510407G>A						ITGAL_uc002dyj.3_Silent_p.V532V|ITGAL_uc010vev.1_Intron	p.V615V	NM_002209	NP_002200	P20701	ITAL_HUMAN			16	2021	+			615			FG-GAP 7.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1845G>A	CCDS32433.1																																																																																				0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			11	49	0	0	0	0	11	49				
ABCC12	94160	broad.mit.edu	37	16	48149471	48149471	+	Missense_Mutation	SNP	C	C	T	rs547878738		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:48149471C>T	ENST00000311303.3	-	13	2189	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ABCC12_ENST00000448542.1_Missense_Mutation_p.R615H|ABCC12_ENST00000416054.1_Missense_Mutation_p.A591T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R615H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGACAGCGCGGGCCAGGCT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17789	0.0		0.0	False		,,,				2504	0.001					uc002efc.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|skin(1)	3						c.(1843-1845)CGC>CAC		ATP-binding cassette protein C12							67.0	60.0	63.0					16																	48149471		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149471C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1844G>A	16.37:g.48149471C>T	ENSP00000311030:p.Arg615His					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.R615H	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			13	2190	-		all_cancers(37;0.0474)|all_lung(18;0.047)	615			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1844G>A	CCDS10730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392830|3.392830	0.62066|0.62066	.|.	.|.	ENSG00000140798|ENSG00000140798	ENST00000416054|ENST00000311303;ENST00000448542;ENST00000449939	D|D;D	0.92699|0.95482	-3.09|-3.72;-3.72	5.09|5.09	4.14|4.14	0.48551|0.48551	.|ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98582|0.98582	0.9526|0.9526	H|H	0.98559|0.98559	4.265|4.265	0.26204|0.26204	N|N	0.979395|0.979395	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.94274|0.94274	0.7513|0.7513	7|10	0.87932|0.87932	D|D	0|0	.|.	13.0142|13.0142	0.58746|0.58746	0.0:0.9201:0.0:0.0799|0.0:0.9201:0.0:0.0799	.|.	.|615	.|Q96J65	.|MRP9_HUMAN	T|H	591|615;615;557	ENSP00000413046:A591T|ENSP00000311030:R615H;ENSP00000401855:R615H	ENSP00000413046:A591T|ENSP00000311030:R615H	A|R	-|-	1|2	0|0	ABCC12|ABCC12	46706972|46706972	1.000000|1.000000	0.71417|0.71417	0.799000|0.799000	0.32177|0.32177	0.100000|0.100000	0.18952|0.18952	5.749000|5.749000	0.68704|0.68704	1.269000|1.269000	0.44280|0.44280	-0.244000|-0.244000	0.11960|0.11960	GCG|CGC		0.632	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		21	61	0	0	0	0	21	61				
FHOD1	29109	broad.mit.edu	37	16	67272317	67272317	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:67272317C>T	ENST00000258201.4	-	4	654	c.407G>A	c.(406-408)cGc>cAc	p.R136H		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	136	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGGGAGCGGCGGAGCTCAGG	0.542																																						uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.(406-408)CGC>CAC		formin homology 2 domain containing 1							64.0	62.0	63.0					16																	67272317		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67272317C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.407G>A	16.37:g.67272317C>T	ENSP00000258201:p.Arg136His					FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR	p.R136H	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	4	519	-		Ovarian(137;0.0563)	136			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.407G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498115	0.64186	.	.	ENSG00000135723	ENST00000258201	T	0.27256	1.68	5.02	5.02	0.67125	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57470	-0.7806	10	0.72032	D	0.01	.	17.3373	0.87285	0.0:1.0:0.0:0.0	.	136	Q9Y613	FHOD1_HUMAN	H	136	ENSP00000258201:R136H	ENSP00000258201:R136H	R	-	2	0	FHOD1	65829818	1.000000	0.71417	0.996000	0.52242	0.005000	0.04900	7.575000	0.82447	2.328000	0.79073	0.655000	0.94253	CGC		0.542	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			13	39	0	0	0	0	13	39				
ENKD1	84080	broad.mit.edu	37	16	67700071	67700071	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:67700071G>A	ENST00000243878.4	-	2	504	c.183C>T	c.(181-183)ccC>ccT	p.P61P	C16orf86_ENST00000403458.4_5'Flank|ENKD1_ENST00000602644.1_Silent_p.P61P|ENKD1_ENST00000602409.1_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	61						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											CTCCGGCACCGGGACCGATGC	0.682																																						uc002etw.1		NA																	0					0						c.(181-183)CCC>CCT		hypothetical protein LOC84080							28.0	32.0	31.0					16																	67700071		2191	4280	6471	SO:0001819	synonymous_variant	84080					microtubule cytoskeleton	protein binding	g.chr16:67700071G>A	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.183C>T	16.37:g.67700071G>A						C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.P61P|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	p.P61P	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	466	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	61					Q6UWD7	Silent	SNP	ENST00000243878.4	37	c.183C>T	CCDS10844.1																																																																																				0.682	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		30	110	0	0	0	0	30	110				
DLG4	1742	broad.mit.edu	37	17	7099547	7099547	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:7099547G>A	ENST00000399506.2	-	11	1484	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	DLG4_ENST00000302955.6_Silent_p.F428F|DLG4_ENST00000399510.2_Silent_p.F474F			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	431	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ACCTGATGTAGAAACCCCTTT	0.642																																						uc002get.3		NA																	0				ovary(1)|breast(1)	2						c.(1420-1422)TTC>TTT		post-synaptic density protein 95 isoform 1							40.0	43.0	42.0					17																	7099547		1924	4133	6057	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099547G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1293C>T	17.37:g.7099547G>A						DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.F371F|DLG4_uc010cly.2_Silent_p.F428F|DLG4_uc010vto.1_Silent_p.F471F	p.F474F	NM_001365	NP_001356	P78352	DLG4_HUMAN			13	2623	-			431			SH3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.1422C>T																																																																																					0.642	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		5	85	0	0	0	0	5	85				
TP53	7157	broad.mit.edu	37	17	7578503	7578503	+	Missense_Mutation	SNP	C	C	T	rs587782620		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:7578503C>T	ENST00000269305.4	-	5	616	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	TP53_ENST00000420246.2_Missense_Mutation_p.V143M|TP53_ENST00000359597.4_Missense_Mutation_p.V143M|TP53_ENST00000455263.2_Missense_Mutation_p.V143M|TP53_ENST00000445888.2_Missense_Mutation_p.V143M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.V143M	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	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		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.V143M(19)|p.0?(8)|p.V143L(4)|p.V143fs*27(2)|p.V11M(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V50M(1)|p.V143_S149del(1)|p.C141fs*5(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)	CACAGCTGCACAGGGCAGGTC	0.587		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		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		42	Substitution - Missense(25)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(4)|Insertion - Frameshift(1)	p.V143M(16)|p.V143A(14)|p.0?(7)|p.V143E(4)|p.V143L(4)|p.V143V(2)|p.V143fs*27(2)|p.L137_W146del10(1)|p.V143fs*29(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	haematopoietic_and_lymphoid_tissue(8)|breast(6)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(3)|lung(3)|ovary(3)|salivary_gland(2)|large_intestine(2)|oesophagus(2)|cervix(1)|stomach(1)|prostate(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						c.(427-429)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							56.0	56.0	56.0					17																	7578503		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.chr17:7578503C>T	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.427G>A	17.37:g.7578503C>T	ENSP00000269305:p.Val143Met	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_Missense_Mutation_p.V143M|TP53_uc002gih.2_Missense_Mutation_p.V143M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V11M|TP53_uc010cng.1_Missense_Mutation_p.V11M|TP53_uc002gii.1_Missense_Mutation_p.V11M|TP53_uc010cnh.1_Missense_Mutation_p.V143M|TP53_uc010cni.1_Missense_Mutation_p.V143M|TP53_uc002gij.2_Missense_Mutation_p.V143M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V50M|TP53_uc002gio.2_Missense_Mutation_p.V11M|TP53_uc010vug.1_Missense_Mutation_p.V104M	p.V143M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	621	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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.427G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235817	0.39498	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99684	0.9881	M	0.76328	2.33	0.43018	D	0.994566	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.995;0.994;0.985;0.994;0.998;0.998;0.995	D	0.98175	1.0454	10	0.87932	D	0	-32.0412	7.6505	0.28346	0.1615:0.7548:0.0:0.0837	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143M;ENSP00000352610:V143M;ENSP00000269305:V143M;ENSP00000398846:V143M;ENSP00000391127:V143M;ENSP00000391478:V143M;ENSP00000425104:V11M;ENSP00000423862:V50M;ENSP00000424104:V143M	ENSP00000269305:V143M	V	-	1	0	TP53	7519228	0.854000	0.29725	0.596000	0.28811	0.011000	0.07611	1.561000	0.36342	1.448000	0.47680	0.655000	0.94253	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	47	0	0	0	0	27	47				
STAC2	342667	broad.mit.edu	37	17	37368614	37368614	+	Silent	SNP	G	G	A	rs147042988		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:37368614G>A	ENST00000333461.5	-	11	1536	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	389					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GGATGAAGCCGTCAGCATCCT	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18119	0.0		0.0	False		,,,				2504	0.0					uc002hrs.2		NA																	0				pancreas(1)	1						c.(1165-1167)GAC>GAT		SH3 and cysteine rich domain 2		G		1,4403	2.1+/-5.4	0,1,2201	52.0	46.0	48.0		1167	-3.5	1.0	17	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	STAC2	NM_198993.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		389/412	37368614	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37368614G>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1167C>T	17.37:g.37368614G>A						STAC2_uc010cvt.2_Silent_p.D247D	p.D389D	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN			11	1386	-			389					Q32MA3	Silent	SNP	ENST00000333461.5	37	c.1167C>T	CCDS11335.1																																																																																				0.637	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		5	33	0	0	0	0	5	33				
STAT3	6774	broad.mit.edu	37	17	40474419	40474419	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:40474419T>A	ENST00000264657.5	-	21	2294	c.1982A>T	c.(1981-1983)gAt>gTt	p.D661V	STAT3_ENST00000389272.3_Missense_Mutation_p.D563V|STAT3_ENST00000588969.1_Missense_Mutation_p.D661V|STAT3_ENST00000404395.3_Missense_Mutation_p.D661V|STAT3_ENST00000585517.1_Missense_Mutation_p.D661V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	661	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATTGGTAGCATCCATGATCTT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																													uc002hzl.1		NA																	0				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1981-1983)GAT>GTT		signal transducer and activator of transcription							244.0	212.0	223.0					17																	40474419		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474419T>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1982A>T	17.37:g.40474419T>A	ENSP00000264657:p.Asp661Val					STAT3_uc002hzk.1_Missense_Mutation_p.D661V|STAT3_uc002hzm.1_Missense_Mutation_p.D661V|STAT3_uc010wgh.1_Missense_Mutation_p.D563V|STAT3_uc002hzn.1_Missense_Mutation_p.D661V	p.D661V	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2222	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	661			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1982A>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187509	0.57909	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.89270	-2.49;-2.49;-2.49	4.47	4.47	0.54385	SH2 motif (4);	0.131223	0.56097	D	0.000040	D	0.89424	0.6711	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	D	0.88197	0.2881	10	0.30854	T	0.27	-36.2816	13.9124	0.63876	0.0:0.0:0.0:1.0	.	661;661;661	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	661;563;661	ENSP00000264657:D661V;ENSP00000373923:D563V;ENSP00000384943:D661V	ENSP00000264657:D661V	D	-	2	0	STAT3	37727945	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	4.904000	0.63279	1.882000	0.54519	0.533000	0.62120	GAT		0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		59	230	0	0	0	0	59	230				
ITGB3	3690	broad.mit.edu	37	17	45367599	45367599	+	Missense_Mutation	SNP	G	G	T	rs150029332		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:45367599G>T	ENST00000559488.1	+	8	1100	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	ITGB3_ENST00000571680.1_Missense_Mutation_p.D362Y|ITGB3_ENST00000435993.2_Missense_Mutation_p.D315Y|ITGB3_ENST00000560629.1_Missense_Mutation_p.G350V	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	362	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TCTGTCCATGGATTCCAGCAA	0.493																																						uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(1084-1086)GAT>TAT		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						243.0	233.0	236.0					17																	45367599		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45367599G>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1084G>T	17.37:g.45367599G>T	ENSP00000452786:p.Asp362Tyr					ITGB3_uc002ili.1_Missense_Mutation_p.D362Y|ITGB3_uc010wkr.1_RNA	p.D362Y	NM_000212	NP_000203	P05106	ITB3_HUMAN			8	1104	+			362			VWFA.|Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1084G>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457358	0.63401	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95035	-3.59	5.57	2.44	0.29823	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.235770	0.49305	D	0.000156	D	0.97595	0.9212	H	0.95328	3.655	0.58432	D	0.999999	D;D	0.69078	0.987;0.997	P;D	0.70487	0.827;0.969	D	0.96865	0.9635	10	0.87932	D	0	.	10.3787	0.44099	0.2221:0.0:0.7779:0.0	.	362;362	P05106;Q2YFE1	ITB3_HUMAN;.	Y	362;315	ENSP00000407801:D315Y	ENSP00000262017:D362Y	D	+	1	0	C17orf57	42722598	0.997000	0.39634	0.201000	0.23476	0.886000	0.51366	2.500000	0.45381	0.286000	0.22352	0.462000	0.41574	GAT		0.493	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		49	205	1	0	1.11e-26	1.3e-26	49	205				
WFIKKN2	124857	broad.mit.edu	37	17	48913362	48913362	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:48913362C>G	ENST00000311378.4	+	1	592	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	WFIKKN2_ENST00000426127.1_Intron	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	22					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			gctgctgctgctgctgctact	0.677																																						uc002isv.3		NA																	0				ovary(2)|skin(1)	3						c.(64-66)CTG>GTG		WFIKKN2 protein							14.0	14.0	14.0					17																	48913362		2196	4289	6485	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48913362C>G	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.64C>G	17.37:g.48913362C>G	ENSP00000311184:p.Leu22Val					WFIKKN2_uc010dbu.2_Intron	p.L22V	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	758	+			22					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.64C>G	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928549	0.18131	.	.	ENSG00000173714	ENST00000311378	D	0.81821	-1.54	5.0	2.99	0.34606	.	0.352176	0.26769	N	0.022598	T	0.53738	0.1815	N	0.08118	0	0.24562	N	0.993966	B	0.34372	0.451	B	0.26517	0.07	T	0.43589	-0.9382	10	0.28530	T	0.3	.	4.1072	0.10041	0.2902:0.5236:0.0:0.1862	.	22	Q8TEU8	WFKN2_HUMAN	V	22	ENSP00000311184:L22V	ENSP00000311184:L22V	L	+	1	2	WFIKKN2	46268361	0.480000	0.25933	0.992000	0.48379	0.644000	0.38419	0.568000	0.23623	0.508000	0.28173	-0.136000	0.14681	CTG		0.677	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		2	13	0	0	0	0	2	13				
RPTOR	57521	broad.mit.edu	37	17	78899184	78899184	+	Silent	SNP	G	G	A	rs181542338	byFrequency	TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr17:78899184G>A	ENST00000306801.3	+	24	3185	c.2823G>A	c.(2821-2823)gcG>gcA	p.A941A	RPTOR_ENST00000544334.2_Silent_p.A783A|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	941					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGGACGACGCGGACGATGCTG	0.572													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17574	0.0		0.0	False		,,,				2504	0.0					uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(2821-2823)GCG>GCA		raptor isoform 1							59.0	54.0	56.0					17																	78899184		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78899184G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2823G>A	17.37:g.78899184G>A						RPTOR_uc010wug.1_Silent_p.A783A	p.A941A	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			24	3628	+			941					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.2823G>A	CCDS11773.1																																																																																				0.572	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		14	65	0	0	0	0	14	65				
ANKRD12	23253	broad.mit.edu	37	18	9204522	9204522	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr18:9204522C>G	ENST00000262126.4	+	4	524	c.284C>G	c.(283-285)tCt>tGt	p.S95C	ANKRD12_ENST00000383440.2_Intron|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Intron	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	95						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGACTTATATCTTCTTACAGG	0.373																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(283-285)TCT>TGT		ankyrin repeat domain 12 isoform 1							78.0	76.0	77.0					18																	9204522		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9204522C>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.284C>G	18.37:g.9204522C>G	ENSP00000262126:p.Ser95Cys					ANKRD12_uc010wzn.1_Missense_Mutation_p.S95C|ANKRD12_uc002knw.2_Intron|ANKRD12_uc002knx.2_Intron	p.S95C	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			4	541	+			95					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.284C>G	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764455	0.89932	.	.	ENSG00000101745	ENST00000262126;ENST00000540578	T	0.06687	3.27	5.54	5.54	0.83059	.	0.317648	0.31577	N	0.007417	T	0.18045	0.0433	L	0.36672	1.1	0.80722	D	1	P;D	0.71674	0.875;0.998	P;P	0.57324	0.533;0.818	T	0.00228	-1.1899	10	0.51188	T	0.08	-8.834	19.0723	0.93145	0.0:1.0:0.0:0.0	.	95;95	Q6PG48;Q6UB98	.;ANR12_HUMAN	C	95	ENSP00000262126:S95C	ENSP00000262126:S95C	S	+	2	0	ANKRD12	9194522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.897000	0.75671	2.617000	0.88574	0.655000	0.94253	TCT		0.373	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		41	126	0	0	0	0	41	126				
MUC16	94025	broad.mit.edu	37	19	9088876	9088876	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:9088876G>A	ENST00000397910.4	-	1	3142	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	980	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)		p.S980L(2)		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						GGTTGTTGCTGAAGGTAACCC	0.458																																						uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2938-2940)TCA>TTA		mucin 16							267.0	255.0	259.0					19																	9088876		2008	4177	6185	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088876G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2939C>T	19.37:g.9088876G>A	ENSP00000381008:p.Ser980Leu						p.S980L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3143	-			980			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2939C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.613	0.481552	0.12581	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.31	0.203	0.15195	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	B	0.31730	0.337	B	0.22152	0.038	T	0.44544	-0.9321	8	0.87932	D	0	.	3.597	0.08010	0.2705:0.0:0.7295:0.0	.	980	B5ME49	.	L	980	ENSP00000381008:S980L	ENSP00000381008:S980L	S	-	2	0	MUC16	8949876	0.000000	0.05858	0.000000	0.03702	0.375000	0.29983	-0.517000	0.06275	0.101000	0.17610	0.205000	0.17691	TCA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		86	307	0	0	0	0	86	307				
SMARCA4	6597	broad.mit.edu	37	19	11132522	11132522	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:11132522C>T	ENST00000429416.3	+	20	3019	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P913L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	913	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P913Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGGGCACACCGCTGCAGAAC	0.612			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)	p.?(1)	kidney(2)|lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2737-2739)CCG>CTG		SWI/SNF-related matrix-associated							90.0	69.0	76.0					19																	11132522		2202	4300	6502	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132522C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2738C>T	19.37:g.11132522C>T	ENSP00000395654:p.Pro913Leu					SMARCA4_uc010dxp.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P913L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P913L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P133L|SMARCA4_uc002mqh.3_Missense_Mutation_p.P36L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P116L	p.P913L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			19	3022	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	913			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2738C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550120	0.45383	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.51	3.48	0.39840	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99815	4.805	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;0.992;1.0;0.998;0.998	D	0.96538	0.9398	10	0.87932	D	0	-34.2807	11.4789	0.50314	0.0:0.9105:0.0:0.0895	.	913;913;913;913;913;133;913;913	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	913;913;977;913;913;913;913;913	ENSP00000395654:P913L;ENSP00000350720:P913L;ENSP00000343896:P913L;ENSP00000445036:P913L;ENSP00000392837:P913L;ENSP00000397783:P913L;ENSP00000414727:P913L	ENSP00000343896:P913L	P	+	2	0	SMARCA4	10993522	1.000000	0.71417	0.035000	0.18076	0.001000	0.01503	7.651000	0.83577	1.133000	0.42147	-0.136000	0.14681	CCG		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	44	0	0	0	0	8	44				
KMT2B	9757	broad.mit.edu	37	19	36214909	36214909	+	Splice_Site	SNP	G	G	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:36214909G>T	ENST00000222270.7	+	8	3334		c.e8+1		KMT2B_ENST00000420124.1_Splice_Site|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B						chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGAGAAAATGGTGCGAACTGC	0.552																																						uc010eei.2		NA																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.e9+1		myeloid/lymphoid or mixed-lineage leukemia 4							16.0	18.0	18.0					19																	36214909		1747	3852	5599	SO:0001630	splice_region_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36214909G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3334+1G>T	19.37:g.36214909G>T							p.E1112_splice	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	3334	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)							O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Splice_Site	SNP	ENST00000222270.7	37	c.3334_splice	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489764	0.64074	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9017	0.92444	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AD000671.1	40906749	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	3.968000	0.56809	2.837000	0.97791	0.655000	0.94253	.		0.552	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	Intron	5	41	1	0	2.01e-06	2.19e-06	5	41				
RYR1	6261	broad.mit.edu	37	19	38939326	38939326	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:38939326G>A	ENST00000359596.3	+	11	995	c.995G>A	c.(994-996)gGc>gAc	p.G332D	RYR1_ENST00000360985.3_Missense_Mutation_p.G332D|RYR1_ENST00000355481.4_Missense_Mutation_p.G332D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	332					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GATGTGGAGGGCATGGGCCCC	0.637																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(994-996)GGC>GAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						82.0	82.0	82.0					19																	38939326		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38939326G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.995G>A	19.37:g.38939326G>A	ENSP00000352608:p.Gly332Asp					RYR1_uc002oiu.2_Missense_Mutation_p.G332D	p.G332D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1125	+	all_cancers(60;7.91e-06)		332			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.995G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553566	0.65425	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.87887	-2.31;-2.31;-2.31	4.7	4.7	0.59300	MIR motif (1);MIR (2);	0.000000	0.64402	U	0.000002	D	0.93462	0.7914	M	0.81942	2.565	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94257	0.7499	10	0.72032	D	0.01	.	16.5604	0.84551	0.0:0.0:1.0:0.0	.	332;332	P21817-2;P21817	.;RYR1_HUMAN	D	332	ENSP00000352608:G332D;ENSP00000347667:G332D;ENSP00000354254:G332D	ENSP00000347667:G332D	G	+	2	0	RYR1	43631166	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.326000	0.96389	2.432000	0.82394	0.561000	0.74099	GGC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			41	164	0	0	0	0	41	164				
ZNF610	162963	broad.mit.edu	37	19	52856994	52856994	+	Silent	SNP	G	G	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:52856994G>C	ENST00000403906.3	+	4	579	c.123G>C	c.(121-123)ctG>ctC	p.L41L	ZNF610_ENST00000327920.8_Silent_p.L41L|ZNF610_ENST00000321287.8_Silent_p.L41L|ZNF610_ENST00000601151.1_Silent_p.L41L	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGAAATCCCTGGACCCTGGAC	0.493																																						uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(121-123)CTG>CTC		zinc finger protein 610 isoform a							103.0	102.0	102.0					19																	52856994		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52856994G>C	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.123G>C	19.37:g.52856994G>C						ZNF610_uc002pyy.3_Silent_p.L41L|ZNF610_uc002pyz.3_Silent_p.L41L|ZNF610_uc002pza.2_Silent_p.L41L	p.L41L	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	4	529	+			41			KRAB.		A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.123G>C	CCDS12851.1																																																																																				0.493	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		32	140	0	0	0	0	32	140				
NLRP12	91662	broad.mit.edu	37	19	54327166	54327166	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:54327166C>G	ENST00000324134.6	-	1	431	c.263G>C	c.(262-264)aGa>aCa	p.R88T	NLRP12_ENST00000345770.5_Missense_Mutation_p.R88T|NLRP12_ENST00000391772.1_Missense_Mutation_p.R88T|NLRP12_ENST00000391775.3_Missense_Mutation_p.R88T|NLRP12_ENST00000351894.4_Missense_Mutation_p.R88T|NLRP12_ENST00000391773.1_Missense_Mutation_p.R88T|NLRP12_ENST00000354278.3_Missense_Mutation_p.R88T|NLRP12_ENST00000535162.1_Missense_Mutation_p.R88T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	88	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCTGTCCTCTCTCCCACAG	0.587																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(262-264)AGA>ACA		NLR family, pyrin domain containing 12 isoform							106.0	103.0	104.0					19																	54327166		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327166C>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.263G>C	19.37:g.54327166C>G	ENSP00000319377:p.Arg88Thr					NLRP12_uc002qci.3_Missense_Mutation_p.R88T|NLRP12_uc002qcj.3_Missense_Mutation_p.R88T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R88T	p.R88T	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	483	-	Ovarian(34;0.19)		88			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.263G>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478218	0.26511	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.87	0.201	0.15186	Pyrin (2);DEATH-like (2);	1.451550	0.04944	N	0.459103	T	0.73900	0.3646	M	0.85859	2.78	0.25266	N	0.989556	D;D;D;D	0.58268	0.982;0.967;0.982;0.967	P;P;P;P	0.59825	0.864;0.76;0.864;0.76	T	0.55988	-0.8053	10	0.87932	D	0	.	6.9124	0.24342	0.0:0.5825:0.0:0.4175	.	88;88;88;88	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	88	ENSP00000319377:R88T;ENSP00000438030:R88T;ENSP00000340473:R88T;ENSP00000346231:R88T;ENSP00000375655:R88T;ENSP00000375653:R88T;ENSP00000375652:R88T	ENSP00000319377:R88T	R	-	2	0	NLRP12	59018978	0.968000	0.33430	0.138000	0.22173	0.487000	0.33371	0.474000	0.22148	-0.044000	0.13491	-0.350000	0.07774	AGA		0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		65	224	0	0	0	0	65	224				
LILRA6	79168	broad.mit.edu	37	19	54745723	54745723	+	Silent	SNP	C	C	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr19:54745723C>A	ENST00000396365.2	-	4	426	c.387G>T	c.(385-387)ctG>ctT	p.L129L	LILRA6_ENST00000391735.3_Silent_p.L129L|LILRA6_ENST00000440558.2_Silent_p.L129L|LILRA6_ENST00000419410.2_Silent_p.L129L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.L129L|LILRA6_ENST00000270464.5_Silent_p.L129L	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	129					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGCTGGGCAGGGCTGAGA	0.562																																						uc002qeu.1		NA																	0				skin(2)	2						c.(385-387)CTG>CTT		leukocyte immunoglobulin-like receptor,							52.0	88.0	76.0					19																	54745723		2116	4294	6410	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54745723C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.387G>T	19.37:g.54745723C>A						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Silent_p.L129L|LILRA6_uc002qek.1_Silent_p.L129L|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.L129L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.L129L|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.L129L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.L129L|LILRA6_uc010yep.1_Silent_p.L129L|LILRA6_uc010yeq.1_Silent_p.L129L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_5'UTR	p.L129L	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	511	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		129			Extracellular (Potential).			Silent	SNP	ENST00000396365.2	37	c.387G>T	CCDS42610.1																																																																																				0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		16	412	1	0	2.46e-09	2.74e-09	16	412				
PXDN	7837	broad.mit.edu	37	2	1667514	1667514	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:1667514C>T	ENST00000252804.4	-	12	1480	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	477	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGGTGCCGCCGGTCCACGGA	0.602																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(1429-1431)CGG>CAG		peroxidasin precursor							61.0	68.0	66.0					2																	1667514		2041	4176	6217	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667514C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1430G>A	2.37:g.1667514C>T	ENSP00000252804:p.Arg477Gln					PXDN_uc002qxb.1_Missense_Mutation_p.R477Q	p.R477Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1494	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	477			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1430G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102849|4.102849	0.76983|0.76983	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.28895	.|1.59	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.118551	.|0.56097	.|N	.|0.000038	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.21617|0.21617	0.685|0.685	0.52501|0.52501	D|D	0.999952|0.999952	.|D;D	.|0.61697	.|0.99;0.986	.|P;P	.|0.61003	.|0.812;0.882	T|T	0.04320|0.04320	-1.0960|-1.0960	5|10	.|0.13853	.|T	.|0.58	-40.1551|-40.1551	20.0263|20.0263	0.97523|0.97523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|477;477	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	S|Q	473|477	.|ENSP00000252804:R477Q	.|ENSP00000252804:R477Q	G|R	-|-	1|2	0|0	PXDN|PXDN	1646521|1646521	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.973000|0.973000	0.67179|0.67179	5.717000|5.717000	0.68446|0.68446	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		5	139	0	0	0	0	5	139				
CTNNA2	1496	broad.mit.edu	37	2	80101317	80101317	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:80101317C>T	ENST00000402739.4	+	5	706	c.701C>T	c.(700-702)gCc>gTc	p.A234V	CTNNA2_ENST00000466387.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCAGATGTCGCCGCTACGAGA	0.582																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(700-702)GCC>GTC		catenin, alpha 2 isoform 1							50.0	55.0	53.0					2																	80101317		2076	4221	6297	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80101317C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.701C>T	2.37:g.80101317C>T	ENSP00000384638:p.Ala234Val					CTNNA2_uc010yse.1_Missense_Mutation_p.A234V|CTNNA2_uc010ysf.1_Missense_Mutation_p.A234V|CTNNA2_uc010ysg.1_Missense_Mutation_p.A234V	p.A234V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			5	706	+			234					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.701C>T		.	.	.	.	.	.	.	.	.	.	C	18.37	3.608123	0.66558	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.64170	1.965	0.80722	D	1	B;P;P	0.35401	0.399;0.499;0.499	B;B;B	0.28638	0.092;0.055;0.082	T	0.29671	-1.0004	10	0.31617	T	0.26	.	19.8448	0.96704	0.0:1.0:0.0:0.0	.	234;234;234	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	V	234;234;268;234;234;234	ENSP00000418191:A234V;ENSP00000419295:A234V;ENSP00000355398:A268V;ENSP00000384638:A234V;ENSP00000444675:A234V;ENSP00000441705:A234V	ENSP00000355398:A268V	A	+	2	0	CTNNA2	79954825	1.000000	0.71417	0.731000	0.30826	0.814000	0.46013	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	GCC		0.582	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		38	78	0	0	0	0	38	78				
CTNNA2	1496	broad.mit.edu	37	2	80620359	80620359	+	Silent	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:80620359T>C	ENST00000402739.4	+	7	1085	c.1080T>C	c.(1078-1080)gaT>gaC	p.D360D	CTNNA2_ENST00000466387.1_Silent_p.D360D|CTNNA2_ENST00000541047.1_Silent_p.D360D|CTNNA2_ENST00000343114.3_Silent_p.D39D|CTNNA2_ENST00000496558.1_Silent_p.D360D|CTNNA2_ENST00000361291.4_Silent_p.D394D|CTNNA2_ENST00000540488.1_Silent_p.D360D	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	360					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAAAGGAGATCCTCTCAACA	0.284																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1078-1080)GAT>GAC		catenin, alpha 2 isoform 1							92.0	88.0	89.0					2																	80620359		1822	4076	5898	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620359T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1080T>C	2.37:g.80620359T>C						CTNNA2_uc010yse.1_Silent_p.D360D|CTNNA2_uc010ysf.1_Silent_p.D360D|CTNNA2_uc010ysg.1_Silent_p.D360D|CTNNA2_uc010ysi.1_5'UTR	p.D360D	NM_004389	NP_004380	P26232	CTNA2_HUMAN			7	1085	+			360					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1080T>C																																																																																					0.284	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		63	118	0	0	0	0	63	118				
GPR45	11250	broad.mit.edu	37	2	105858997	105858997	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:105858997C>T	ENST00000258456.1	+	1	798	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GAACGCCGTGCGCGTGCACAA	0.652																																						uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(682-684)CGC>TGC		G protein-coupled receptor 45							71.0	71.0	71.0					2																	105858997		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858997C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.682C>T	2.37:g.105858997C>T	ENSP00000258456:p.Arg228Cys						p.R228C	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	798	+			228			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.682C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078383	0.55753	.	.	ENSG00000135973	ENST00000258456	T	0.73363	-0.74	5.1	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.87517	0.6197	M	0.88775	2.98	0.51012	D	0.9999	D	0.89917	1.0	D	0.97110	1.0	D	0.89933	0.4067	10	0.87932	D	0	-13.8955	14.3737	0.66860	0.2243:0.7757:0.0:0.0	.	228	Q9Y5Y3	GPR45_HUMAN	C	228	ENSP00000258456:R228C	ENSP00000258456:R228C	R	+	1	0	GPR45	105225429	0.216000	0.23585	0.330000	0.25442	0.928000	0.56348	0.833000	0.27504	2.373000	0.80994	0.462000	0.41574	CGC		0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		5	150	0	0	0	0	5	150				
MARCH7	64844	broad.mit.edu	37	2	160585576	160585576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:160585576C>T	ENST00000259050.4	+	2	165	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	MARCH7_ENST00000539065.1_Nonsense_Mutation_p.Q15*|MARCH7_ENST00000409175.1_Nonsense_Mutation_p.Q15*|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	15	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AATTTCTGTTCAACCTTCCAG	0.343																																						uc002uax.2		NA																	0					0						c.(43-45)CAA>TAA		axotrophin							66.0	64.0	65.0					2																	160585576		2203	4300	6503	SO:0001587	stop_gained	64844						ligase activity|zinc ion binding	g.chr2:160585576C>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.43C>T	2.37:g.160585576C>T	ENSP00000259050:p.Gln15*					MARCH7_uc010foq.2_Nonsense_Mutation_p.Q15*|MARCH7_uc010zcn.1_Nonsense_Mutation_p.Q15*	p.Q15*	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			2	165	+			15			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Nonsense_Mutation	SNP	ENST00000259050.4	37	c.43C>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558595	0.96514	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037	.	.	.	5.9	4.98	0.66077	.	0.305903	0.32578	N	0.005907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.1105	16.7634	0.85517	0.0:0.8606:0.1394:0.0	.	.	.	.	X	15	.	ENSP00000259050:Q15X	Q	+	1	0	MARCH7	160293822	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.240000	0.43088	2.800000	0.96347	0.455000	0.32223	CAA		0.343	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		34	70	0	0	0	0	34	70				
SESTD1	91404	broad.mit.edu	37	2	179979882	179979882	+	Silent	SNP	C	C	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:179979882C>A	ENST00000428443.3	-	16	2065	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	583							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATACTCTGTTCAGTCGAGGAA	0.433																																						uc002uni.3		NA																	0				ovary(1)	1						c.(1747-1749)CTG>CTT		SEC14 and spectrin domains 1							102.0	88.0	92.0					2																	179979882		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179979882C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1749G>T	2.37:g.179979882C>A						SESTD1_uc002unh.3_Silent_p.L86L	p.L583L	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		16	1899	-			583			Spectrin 3.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.1749G>T	CCDS33338.1																																																																																				0.433	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		21	66	1	0	4.97e-08	5.49e-08	21	66				
SSFA2	6744	broad.mit.edu	37	2	182767033	182767033	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:182767033A>G	ENST00000431877.2	+	8	1432	c.1253A>G	c.(1252-1254)gAt>gGt	p.D418G	SSFA2_ENST00000409001.1_Missense_Mutation_p.D418G|SSFA2_ENST00000320370.7_Missense_Mutation_p.D418G|SSFA2_ENST00000428267.2_Missense_Mutation_p.D265G	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	418						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCAAATTAGATAGTGATTTC	0.383																																						uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1252-1254)GAT>GGT		sperm specific antigen 2 isoform 1							77.0	83.0	81.0					2																	182767033		2201	4300	6501	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182767033A>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1253A>G	2.37:g.182767033A>G	ENSP00000388731:p.Asp418Gly					SSFA2_uc002uoh.2_Missense_Mutation_p.D418G|SSFA2_uc002uoj.2_Missense_Mutation_p.D418G|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.D265G|SSFA2_uc002uol.2_Missense_Mutation_p.D265G	p.D418G	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1575	+			418					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1253A>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.430470	0.00184	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.14144	2.76;2.53;2.75;2.76	5.57	-2.2	0.06994	.	1.218770	0.05357	N	0.532969	T	0.02649	0.0080	N	0.00162	-1.95	0.09310	N	1	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	0.42430	-0.9452	10	0.12430	T	0.62	-0.2518	7.8976	0.29715	0.5138:0.1097:0.3765:0.0	.	265;418;418;418	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	G	418;418;418;265	ENSP00000388731:D418G;ENSP00000314669:D418G;ENSP00000387319:D418G;ENSP00000409867:D265G	ENSP00000314669:D418G	D	+	2	0	SSFA2	182475278	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	0.267000	0.18552	-0.644000	0.05465	-0.904000	0.02843	GAT		0.383	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		15	84	0	0	0	0	15	84				
BTBD3	22903	broad.mit.edu	37	20	11903288	11903288	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr20:11903288C>G	ENST00000405977.1	+	5	1168	c.543C>G	c.(541-543)atC>atG	p.I181M	BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000399006.2_Missense_Mutation_p.I120M|BTBD3_ENST00000254977.3_Missense_Mutation_p.I120M|BTBD3_ENST00000378226.2_Missense_Mutation_p.I181M	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	181	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACAGATATATCTATTGTGATG	0.388																																						uc002wnz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(541-543)ATC>ATG		BTB/POZ domain containing protein 3 isoform a							80.0	76.0	78.0					20																	11903288		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903288C>G	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.543C>G	20.37:g.11903288C>G	ENSP00000384545:p.Ile181Met					BTBD3_uc002wny.2_Missense_Mutation_p.I120M|BTBD3_uc002woa.2_Missense_Mutation_p.I120M|BTBD3_uc010zrf.1_Missense_Mutation_p.I30M|BTBD3_uc010zrg.1_Missense_Mutation_p.I30M|BTBD3_uc010zrh.1_Missense_Mutation_p.I30M	p.I181M	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			4	902	+			181			BTB.		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.543C>G	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081257	0.08533	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.95	5.0	0.66597	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.042032	0.85682	D	0.000000	T	0.47838	0.1467	N	0.17674	0.51	0.53005	D	0.999966	B	0.10296	0.003	B	0.15484	0.013	T	0.41627	-0.9498	10	0.37606	T	0.19	.	6.6742	0.23085	0.1314:0.6711:0.1272:0.0703	.	181	Q9Y2F9	BTBD3_HUMAN	M	120;120;181;120;181;70;70	ENSP00000254977:I120M;ENSP00000381971:I120M;ENSP00000384545:I181M;ENSP00000397809:I120M;ENSP00000367471:I181M;ENSP00000408817:I70M;ENSP00000404582:I70M	ENSP00000254977:I120M	I	+	3	3	BTBD3	11851288	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.234000	0.17930	1.505000	0.48720	0.650000	0.86243	ATC		0.388	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			27	132	0	0	0	0	27	132				
TTI1	9675	broad.mit.edu	37	20	36631033	36631033	+	Silent	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr20:36631033C>T	ENST00000373448.2	-	5	2887	c.2649G>A	c.(2647-2649)ctG>ctA	p.L883L	TTI1_ENST00000449821.1_Silent_p.L883L|TTI1_ENST00000373447.3_Silent_p.L883L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	883					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CACTGACCTTCAGGCGGATTT	0.532																																						uc002xhl.2		NA																	0					0						c.(2647-2649)CTG>CTA		hypothetical protein LOC9675							123.0	106.0	112.0					20																	36631033		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36631033C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2649G>A	20.37:g.36631033C>T						KIAA0406_uc002xhm.2_Silent_p.L883L	p.L883L	NM_014657	NP_055472	O43156	TTI1_HUMAN			5	2858	-		Myeloproliferative disorder(115;0.00874)	883					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2649G>A	CCDS13300.1																																																																																				0.532	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		29	116	0	0	0	0	29	116				
PTPRT	11122	broad.mit.edu	37	20	40743859	40743859	+	Missense_Mutation	SNP	G	G	A	rs369430281		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr20:40743859G>A	ENST00000373187.1	-	22	3078	c.3079C>T	c.(3079-3081)Cgc>Tgc	p.R1027C	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1026C|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1046C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1036C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1030C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1017C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1037C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1027	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGAAGGTGCGTATGACGTAT	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.0					uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(3079-3081)CGC>TGC		protein tyrosine phosphatase, receptor type, T		G	CYS/ARG,CYS/ARG	1,4019		0,1,2009	152.0	154.0	153.0		3079,3136	5.7	1.0	20		153	0,8310		0,0,4155	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	180,180	0,1,6164	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging,probably-damaging	1027/1442,1046/1461	40743859	1,12329	2010	4155	6165	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40743859G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3079C>T	20.37:g.40743859G>A	ENSP00000362283:p.Arg1027Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.R1046C|PTPRT_uc010ggi.2_Missense_Mutation_p.R230C	p.R1027C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			22	3263	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1027			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3079C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798645	0.70567	2.49E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.79764	0.4502	H	0.99752	4.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89031	0.3442	10	0.87932	D	0	.	19.7084	0.96083	0.0:0.0:1.0:0.0	.	1049;1027	O14522-1;O14522	.;PTPRT_HUMAN	C	1026;1027;1030;1036;1049;1037;1017	ENSP00000362286:R1026C;ENSP00000362283:R1027C;ENSP00000362289:R1030C;ENSP00000348408:R1036C;ENSP00000362294:R1049C;ENSP00000362280:R1037C;ENSP00000362297:R1017C	ENSP00000348408:R1036C	R	-	1	0	PTPRT	40177273	1.000000	0.71417	0.988000	0.46212	0.902000	0.53008	4.647000	0.61418	2.663000	0.90544	0.561000	0.74099	CGC		0.512	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			31	133	0	0	0	0	31	133				
CLDN17	26285	broad.mit.edu	37	21	31538657	31538657	+	Silent	SNP	G	G	A	rs138854149	byFrequency	TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr21:31538657G>A	ENST00000286808.3	-	1	314	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	93					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TAAGCAGGGCGATCAAGGAGA	0.557																																						uc011acv.1		NA																	0				ovary(2)	2						c.(277-279)ATC>ATT		claudin 17		G		1,4405	2.1+/-5.4	0,1,2202	72.0	74.0	73.0		279	-5.5	0.0	21	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	CLDN17	NM_012131.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		93/225	31538657	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538657G>A	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.279C>T	21.37:g.31538657G>A							p.I93I	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	279	-			93			Helical; (Potential).		Q3MJB5|Q6UY37	Silent	SNP	ENST00000286808.3	37	c.279C>T	CCDS13586.1																																																																																				0.557	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		32	105	0	0	0	0	32	105				
KRTAP10-4	386672	broad.mit.edu	37	21	45993723	45993723	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr21:45993723G>A	ENST00000400374.3	+	1	118	c.88G>A	c.(88-90)Gac>Aac	p.D30N	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	30						keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGGCAGGTGGACGACTGCCC	0.682																																						uc002zfk.1		NA																	0					0						c.(88-90)GAC>AAC		keratin associated protein 10-4							68.0	73.0	71.0					21																	45993723		2098	4211	6309	SO:0001583	missense	386672					keratin filament		g.chr21:45993723G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.88G>A	21.37:g.45993723G>A	ENSP00000383225:p.Asp30Asn					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.D30N	NM_198687	NP_941960	P60372	KR104_HUMAN			1	118	+			30					Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.88G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	12.56	1.975337	0.34848	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14893	2.47	4.69	3.73	0.42828	.	.	.	.	.	T	0.19725	0.0474	M	0.67397	2.05	0.26076	N	0.981152	P	0.38677	0.642	B	0.37047	0.24	T	0.09574	-1.0668	9	0.49607	T	0.09	.	9.5543	0.39328	0.0:0.0:0.7903:0.2097	.	30	P60372	KR104_HUMAN	N	30;19	ENSP00000383225:D30N	ENSP00000333987:D19N	D	+	1	0	KRTAP10-4	44818151	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	2.843000	0.48238	2.300000	0.77407	0.484000	0.47621	GAC		0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		27	99	0	0	0	0	27	99				
GRM7	2917	broad.mit.edu	37	3	6903213	6903213	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:6903213G>A	ENST00000357716.4	+	1	412	c.138G>A	c.(136-138)gaG>gaA	p.E46E	GRM7_ENST00000402647.2_Silent_p.E46E|GRM7_ENST00000389336.4_Silent_p.E46E|GRM7_ENST00000486284.1_Silent_p.E46E|GRM7_ENST00000403881.1_Silent_p.E46E	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	46					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCCGGATCGAGGGGGACGTCA	0.692																																						uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(136-138)GAG>GAA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						13.0	14.0	13.0					3																	6903213		2199	4296	6495	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903213G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.138G>A	3.37:g.6903213G>A						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.E46E|GRM7_uc003bql.2_Silent_p.E46E	p.E46E	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	412	+			46			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.138G>A	CCDS43042.1																																																																																				0.692	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		3	12	0	0	0	0	3	12				
ARHGAP31	57514	broad.mit.edu	37	3	119084258	119084258	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:119084258C>T	ENST00000264245.4	+	2	728	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	66	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AAACATACAACGGCTAAGGTA	0.438																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	0				ovary(2)	2						c.(196-198)CGG>TGG		Cdc42 GTPase-activating protein							86.0	78.0	81.0					3																	119084258		1893	4132	6025	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119084258C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.196C>T	3.37:g.119084258C>T	ENSP00000264245:p.Arg66Trp						p.R66W	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			2	728	+			66			Rho-GAP.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.196C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444004	0.63067	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.19669	2.13;2.13	5.08	3.13	0.36017	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.114001	0.37261	N	0.002174	T	0.47451	0.1446	M	0.85859	2.78	0.41394	D	0.987637	D	0.89917	1.0	D	0.78314	0.991	T	0.55976	-0.8055	10	0.87932	D	0	.	11.286	0.49222	0.5226:0.4774:0.0:0.0	.	66	Q2M1Z3	RHG31_HUMAN	W	66;66;37	ENSP00000264245:R66W;ENSP00000418429:R37W	ENSP00000264245:R66W	R	+	1	2	ARHGAP31	120566948	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.169000	0.42434	1.456000	0.47831	0.655000	0.94253	CGG		0.438	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			17	100	0	0	0	0	17	100				
PLXNA1	5361	broad.mit.edu	37	3	126708596	126708596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:126708596G>A	ENST00000393409.2	+	1	1160	c.1160G>A	c.(1159-1161)tGg>tAg	p.W387*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.W364*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	387	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCCTGCCGTGGCTGCTCAAC	0.642																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1090-1092)TGG>TAG		plexin A1							73.0	70.0	71.0					3																	126708596		2203	4299	6502	SO:0001587	stop_gained	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708596G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1160G>A	3.37:g.126708596G>A	ENSP00000377061:p.Trp387*						p.W364*	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	1095	+			387			Sema.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000393409.2	37	c.1091G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	37	6.195347	0.97367	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2802	0.82672	0.0:0.0:1.0:0.0	.	.	.	.	X	387;364	.	ENSP00000251772:W364X	W	+	2	0	PLXNA1	128191286	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.539000	0.98076	2.078000	0.62432	0.491000	0.48974	TGG		0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		32	91	0	0	0	0	32	91				
FAIM	55179	broad.mit.edu	37	3	138351800	138351800	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:138351800C>A	ENST00000393035.2	+	5	528	c.419C>A	c.(418-420)aCt>aAt	p.T140N	FAIM_ENST00000338446.4_Missense_Mutation_p.T174N|FAIM_ENST00000360570.3_Missense_Mutation_p.T162N|FAIM_ENST00000393034.2_Missense_Mutation_p.T140N|FAIM_ENST00000464668.1_Missense_Mutation_p.T140N	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	140					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						GGGACTGAAACTCACTTCAGT	0.413																																						uc003esr.2		NA																	0					0						c.(418-420)ACT>AAT		Fas apoptotic inhibitory molecule isoform c							155.0	150.0	152.0					3																	138351800		2203	4300	6503	SO:0001583	missense	55179				apoptosis	cytoplasm		g.chr3:138351800C>A	AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.419C>A	3.37:g.138351800C>A	ENSP00000376755:p.Thr140Asn					FAIM_uc003esp.2_Missense_Mutation_p.T174N|FAIM_uc003esq.2_Missense_Mutation_p.T162N|FAIM_uc003ess.2_Missense_Mutation_p.T140N	p.T140N	NM_001033032	NP_001028204	Q9NVQ4	FAIM1_HUMAN			5	679	+			140					Q6IAN2	Missense_Mutation	SNP	ENST00000393035.2	37	c.419C>A	CCDS3103.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370668	0.82573	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.88310	2.945	0.80722	D	1	D;D;D	0.62365	0.965;0.991;0.976	P;P;P	0.56343	0.796;0.693;0.693	T	0.69224	-0.5201	10	0.72032	D	0.01	-15.3274	16.4145	0.83729	0.0:1.0:0.0:0.0	.	140;162;174	Q9NVQ4;Q9NVQ4-3;Q9NVQ4-2	FAIM1_HUMAN;.;.	N	174;162;140;140;140	ENSP00000342805:T174N;ENSP00000353775:T162N;ENSP00000376755:T140N;ENSP00000376754:T140N;ENSP00000417642:T140N	ENSP00000342805:T174N	T	+	2	0	FAIM	139834490	1.000000	0.71417	0.995000	0.50966	0.762000	0.43233	7.320000	0.79064	2.746000	0.94184	0.655000	0.94253	ACT		0.413	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032		68	123	1	0	1.93e-29	2.28e-29	68	123				
XRN1	54464	broad.mit.edu	37	3	142098954	142098954	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:142098954G>A	ENST00000264951.4	-	23	2802	c.2685C>T	c.(2683-2685)ccC>ccT	p.P895P	XRN1_ENST00000392981.2_Silent_p.P895P	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	895					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CATCAAGATTGGGTTCACATG	0.328																																						uc003eus.2		NA																	0				ovary(3)	3						c.(2683-2685)CCC>CCT		5'-3' exoribonuclease 1 isoform a							106.0	99.0	101.0					3																	142098954		2203	4300	6503	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142098954G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2685C>T	3.37:g.142098954G>A						XRN1_uc010huu.2_Silent_p.P361P|XRN1_uc003eut.2_Silent_p.P895P|XRN1_uc003euu.2_Silent_p.P895P|XRN1_uc003euv.1_Silent_p.P756P	p.P895P	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			23	2752	-			895					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.2685C>T	CCDS3123.1																																																																																				0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		19	79	0	0	0	0	19	79				
CHRD	8646	broad.mit.edu	37	3	184101432	184101432	+	Splice_Site	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:184101432T>C	ENST00000204604.1	+	12	1686		c.e12+2		CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000348986.3_Intron|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACACACGGTGAGGGCTCCA	0.607																																						uc003fov.2		NA																	0				skin(2)|ovary(1)	3						c.e12+2		chordin precursor							51.0	44.0	47.0					3																	184101432		2203	4300	6503	SO:0001630	splice_region_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184101432T>C	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1440+2T>C	3.37:g.184101432T>C						CHRD_uc003fow.2_Splice_Site_p.T110_splice|CHRD_uc003fox.2_Splice_Site_p.T480_splice|CHRD_uc003foy.2_Splice_Site_p.T110_splice|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Splice_Site_p.T110_splice	p.T480_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1686	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)							O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Splice_Site	SNP	ENST00000204604.1	37	c.1440_splice	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	6.272	0.418276	0.11870	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000545352;ENST00000342610	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1155	0.42587	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHRD	185584126	1.000000	0.71417	0.987000	0.45799	0.050000	0.14768	3.673000	0.54591	1.698000	0.51180	0.260000	0.18958	.		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	Intron	10	87	0	0	0	0	10	87				
CPN2	1370	broad.mit.edu	37	3	194062951	194062951	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr3:194062951G>C	ENST00000323830.3	-	2	570	c.481C>G	c.(481-483)Ccc>Gcc	p.P161A	CPN2_ENST00000429275.1_Missense_Mutation_p.P161A	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	161					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGCCTCCTGGGCAGGGCCTGG	0.637																																						uc003fts.2		NA																	0				ovary(5)	5						c.(481-483)CCC>GCC		carboxypeptidase N, polypeptide 2							35.0	36.0	36.0					3																	194062951		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062951G>C	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.481C>G	3.37:g.194062951G>C	ENSP00000319464:p.Pro161Ala						p.P161A	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	571	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		161			LRR 3.		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.481C>G	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688578	0.48097	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.35048	1.33;1.33	5.19	4.25	0.50352	.	0.000000	0.37348	N	0.002127	T	0.48059	0.1479	M	0.81239	2.535	0.31243	N	0.694947	D	0.53312	0.959	P	0.52343	0.696	T	0.56378	-0.7989	10	0.39692	T	0.17	.	8.4391	0.32805	0.0773:0.0:0.768:0.1546	.	161	P22792	CPN2_HUMAN	A	161	ENSP00000319464:P161A;ENSP00000402232:P161A	ENSP00000319464:P161A	P	-	1	0	CPN2	195544646	0.996000	0.38824	0.991000	0.47740	0.803000	0.45373	1.854000	0.39368	2.590000	0.87494	0.561000	0.74099	CCC		0.637	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		11	93	0	0	0	0	11	93				
ENPEP	2028	broad.mit.edu	37	4	111430849	111430849	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr4:111430849G>A	ENST00000265162.5	+	5	1422	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	360	Substrate binding. {ECO:0000250}.				angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTGCCATGGAGAACTGGGGAC	0.443																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(1078-1080)GAG>GAA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						148.0	142.0	144.0					4																	111430849		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111430849G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1080G>A	4.37:g.111430849G>A							p.E360E	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	5	1422	+		Hepatocellular(203;0.217)	360			Substrate binding (By similarity).|Extracellular (Potential).		Q504U2	Silent	SNP	ENST00000265162.5	37	c.1080G>A	CCDS3691.1																																																																																				0.443	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			25	132	0	0	0	0	25	132				
PCDHGB2	56103	broad.mit.edu	37	5	140741347	140741347	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:140741347C>T	ENST00000522605.1	+	1	1645	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCTGCGCGTGTTAGT	0.697																																						uc003ljs.1		NA																	0					0						c.(1645-1647)CGC>TGC		protocadherin gamma subfamily B, 2 isoform 1							33.0	40.0	38.0					5																	140741347		2090	4226	6316	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741347C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1645C>T	5.37:g.140741347C>T	ENSP00000429018:p.Arg549Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.R549C|PCDHGA5_uc011das.1_5'Flank	p.R549C	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1645	+			549			Extracellular (Potential).|Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1645C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.451220	0.26074	.	.	ENSG00000253910	ENST00000522605	T	0.54279	0.58	4.93	4.05	0.47172	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.56992	0.2023	M	0.89095	3.005	0.32366	N	0.556455	P;P	0.36633	0.507;0.562	B;B	0.36186	0.169;0.219	T	0.68842	-0.5302	9	0.62326	D	0.03	.	7.5478	0.27777	0.2742:0.6458:0.0:0.08	.	549;549	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	C	549	ENSP00000429018:R549C	ENSP00000429018:R549C	R	+	1	0	PCDHGB2	140721531	0.001000	0.12720	1.000000	0.80357	0.408000	0.30992	1.548000	0.36201	1.160000	0.42584	0.467000	0.42956	CGC		0.697	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		21	103	0	0	0	0	21	103				
HAVCR1	26762	broad.mit.edu	37	5	156456763	156456763	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:156456763C>T	ENST00000339252.3	-	8	1608	c.1076G>A	c.(1075-1077)aGt>aAt	p.S359N	HAVCR1_ENST00000522693.1_Missense_Mutation_p.V348I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S359N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S359N|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V348I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	354					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCATAAAGACTATTCTCAAT	0.408																																						uc010jij.1		NA																	0				ovary(1)|skin(1)	2						c.(1075-1077)AGT>AAT		hepatitis A virus cellular receptor 1							142.0	126.0	131.0					5																	156456763		1885	4102	5987	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156456763C>T	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.1076G>A	5.37:g.156456763C>T	ENSP00000344844:p.Ser359Asn					HAVCR1_uc011ddl.1_Missense_Mutation_p.V179I|HAVCR1_uc003lwi.2_Missense_Mutation_p.S359N	p.S359N	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1261	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	354			Cytoplasmic (Potential).		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.1076G>A	CCDS43392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.27|11.27	1.590619|1.590619	0.28357|0.28357	.|.	.|.	ENSG00000113249|ENSG00000113249	ENST00000523175;ENST00000339252;ENST00000544197|ENST00000522693;ENST00000425854	T;T;T|T;T	0.08546|0.22539	3.08;3.08;3.08|1.95;1.95	3.82|3.82	-1.27|-1.27	0.09347|0.09347	.|.	0.973291|.	0.08393|.	N|.	0.952643|.	T|T	0.03348|0.03348	0.0097|0.0097	N|N	0.00272|0.00272	-1.73|-1.73	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.04013|0.01281	0.001;0.001|0.0	T|T	0.41034|0.41034	-0.9531|-0.9531	10|9	0.06494|0.07030	T|T	0.89|0.85	.|.	3.8475|3.8475	0.08940|0.08940	0.0:0.3511:0.2038:0.4451|0.0:0.3511:0.2038:0.4451	.|.	354;354|348	F1CME6;Q96D42|E9PFX0	.;HAVR1_HUMAN|.	N|I	359|348	ENSP00000427898:S359N;ENSP00000344844:S359N;ENSP00000440258:S359N|ENSP00000428524:V348I;ENSP00000403333:V348I	ENSP00000344844:S359N|ENSP00000403333:V348I	S|V	-|-	2|1	0|0	HAVCR1|HAVCR1	156389341|156389341	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.223000|-0.223000	0.09177|0.09177	-0.201000|-0.201000	0.10284|0.10284	-0.238000|-0.238000	0.12139|0.12139	AGT|GTC		0.408	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			15	61	0	0	0	0	15	61				
GABRG2	2566	broad.mit.edu	37	5	161524781	161524781	+	Silent	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:161524781C>T	ENST00000361925.4	+	4	685	c.465C>T	c.(463-465)tcC>tcT	p.S155S	GABRG2_ENST00000414552.2_Silent_p.S155S|GABRG2_ENST00000393933.4_Silent_p.S60S|GABRG2_ENST00000356592.3_Silent_p.S155S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	155					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|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(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAGAAATTCCAAAAAAGCTG	0.428																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(463-465)TCC>TCT		gamma-aminobutyric acid A receptor, gamma 2							95.0	95.0	95.0					5																	161524781		2203	4300	6503	SO:0001819	synonymous_variant	2566				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|protein binding	g.chr5:161524781C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.465C>T	5.37:g.161524781C>T						GABRG2_uc010jjc.2_Silent_p.S155S|GABRG2_uc003lyy.3_Silent_p.S155S|GABRG2_uc011dej.1_Silent_p.S60S	p.S155S	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	823	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	155			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.465C>T	CCDS4358.1																																																																																				0.428	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			38	165	0	0	0	0	38	165				
RPL26L1	51121	broad.mit.edu	37	5	172386987	172386987	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:172386987G>C	ENST00000521476.1	+	2	235	c.111G>C	c.(109-111)gaG>gaC	p.E37D	RPL26L1_ENST00000519974.1_Missense_Mutation_p.E37D|RPL26L1_ENST00000519239.1_Missense_Mutation_p.E37D|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.2_ENST00000519755.1_lincRNA|CTC-308K20.1_ENST00000518818.1_RNA|RPL26L1_ENST00000265100.2_Missense_Mutation_p.E37D|CTC-308K20.1_ENST00000520067.1_RNA			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCCAAGGAGCTGCGGCAGA	0.602																																						uc003mcc.2		NA																	0					0						c.(109-111)GAG>GAC		ribosomal protein L26-like 1							146.0	127.0	134.0					5																	172386987		2203	4297	6500	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386987G>C	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.111G>C	5.37:g.172386987G>C	ENSP00000428223:p.Glu37Asp					LOC100268168_uc011dfb.1_5'Flank|LOC100268168_uc011dfc.1_5'Flank	p.E37D	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	153	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	37					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.111G>C	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427719	0.62733	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519522;ENST00000519156	.	.	.	4.89	3.05	0.35203	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	L	0.58354	1.805	0.53005	D	0.999962	B	0.06786	0.001	B	0.15870	0.014	T	0.53457	-0.8436	9	0.38643	T	0.18	.	9.2743	0.37690	0.2381:0.0:0.7619:0.0	.	37	Q9UNX3	RL26L_HUMAN	D	37	.	ENSP00000265100:E37D	E	+	3	2	RPL26L1	172319593	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.998000	0.40796	1.267000	0.44247	0.643000	0.83706	GAG		0.602	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		37	180	0	0	0	0	37	180				
RNF44	22838	broad.mit.edu	37	5	175958006	175958006	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr5:175958006G>C	ENST00000274811.4	-	5	1006	c.482C>G	c.(481-483)aCc>aGc	p.T161S	RNF44_ENST00000537487.1_Missense_Mutation_p.T80S|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	161	Pro-rich.						zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGCATGGTGCACGCCTG	0.667																																						uc003mek.1		NA																	0					0						c.(481-483)ACC>AGC		ring finger protein 44							15.0	18.0	17.0					5																	175958006		2195	4277	6472	SO:0001583	missense	22838						zinc ion binding	g.chr5:175958006G>C	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.482C>G	5.37:g.175958006G>C	ENSP00000274811:p.Thr161Ser					RNF44_uc011dfo.1_Missense_Mutation_p.T69S|RNF44_uc003mel.1_5'Flank	p.T161S	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1007	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	161			Pro-rich.		B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.482C>G	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	G	6.682	0.494448	0.12702	.	.	ENSG00000146083	ENST00000274811;ENST00000537487	T;T	0.14893	2.47;2.47	5.37	4.49	0.54785	.	0.052617	0.85682	D	0.000000	T	0.11110	0.0271	N	0.25144	0.715	0.33555	D	0.596591	B	0.12013	0.005	B	0.14578	0.011	T	0.13335	-1.0513	10	0.02654	T	1	-22.3676	15.9812	0.80111	0.0:0.1351:0.8649:0.0	.	161	Q7L0R7	RNF44_HUMAN	S	161;80	ENSP00000274811:T161S;ENSP00000440352:T80S	ENSP00000274811:T161S	T	-	2	0	RNF44	175890612	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.480000	0.81109	1.256000	0.44068	0.561000	0.74099	ACC		0.667	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			7	20	0	0	0	0	7	20				
GPLD1	2822	broad.mit.edu	37	6	24437400	24437400	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:24437400C>T	ENST00000230036.1	-	21	2248	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	713					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGAGAAGCGGCGGTCTCCGCT	0.562																																						uc003ned.1		NA																	0				ovary(2)|kidney(1)	3						c.(2137-2139)CGC>CAC		glycosylphosphatidylinositol specific							110.0	97.0	101.0					6																	24437400		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24437400C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2138G>A	6.37:g.24437400C>T	ENSP00000230036:p.Arg713His						p.R713H	NM_001503	NP_001494	P80108	PHLD_HUMAN			21	2249	-			713			FG-GAP 6.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.2138G>A	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918624	0.92249	.	.	ENSG00000112293	ENST00000230036	T	0.71341	-0.56	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000007	T	0.82079	0.4959	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84230	0.0466	10	0.72032	D	0.01	-24.7745	15.9283	0.79639	0.0:1.0:0.0:0.0	.	713	P80108	PHLD_HUMAN	H	713	ENSP00000230036:R713H	ENSP00000230036:R713H	R	-	2	0	GPLD1	24545379	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.592000	0.61027	2.590000	0.87494	0.563000	0.77884	CGC		0.562	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		22	116	0	0	0	0	22	116				
MAS1L	116511	broad.mit.edu	37	6	29455445	29455445	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:29455445C>A	ENST00000377127.3	-	1	293	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	79					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GCCTTGGGGGCAATGATATTC	0.512																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	0				ovary(7)|lung(2)	9						c.(235-237)GCC>TCC		MAS1 oncogene-like							69.0	65.0	67.0					6																	29455445		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455445C>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.235G>T	6.37:g.29455445C>A	ENSP00000366331:p.Ala79Ser						p.A79S	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	235	-			79			Helical; Name=1; (Potential).		Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.235G>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	1.162	-0.643541	0.03531	.	.	ENSG00000204687	ENST00000377127	T	0.03580	3.88	0.736	-0.505	0.11993	.	.	.	.	.	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.21546	0.035	T	0.44097	-0.9350	9	0.07175	T	0.84	.	5.6012	0.17355	0.3405:0.6595:0.0:0.0	.	79	P35410	MAS1L_HUMAN	S	79	ENSP00000366331:A79S	ENSP00000366331:A79S	A	-	1	0	MAS1L	29563424	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.827000	0.01704	-0.168000	0.10853	0.501000	0.49751	GCC		0.512	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		24	67	1	0	3.08e-08	3.42e-08	24	67				
TULP1	7287	broad.mit.edu	37	6	35467758	35467758	+	Splice_Site	SNP	G	G	A	rs138772407		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:35467758G>A	ENST00000229771.6	-	14	1574	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	TULP1_ENST00000322263.4_Splice_Site_p.P446S|TEAD3_ENST00000338863.7_5'Flank	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	499					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGTACTCACGGTCATCAGCG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18970	0.0		0.0	False		,,,				2504	0.0				GBM(55;1027 1091 11115 23439)	uc003okv.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1495-1497)CCC>TCC		tubby like protein 1		G	SER/PRO	6,4400	11.4+/-27.6	0,6,2197	108.0	99.0	102.0		1495	3.7	1.0	6	dbSNP_134	102	0,8600		0,0,4300	yes	missense-near-splice	TULP1	NM_003322.3	74	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	499/543	35467758	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35467758G>A	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1495+1C>T	6.37:g.35467758G>A						TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.P446S	p.P499S	NM_003322	NP_003313	O00294	TULP1_HUMAN			14	1507	-			499					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1495C>T	CCDS4807.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.05	2.418868	0.42918	0.001362	0.0	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.96232	-3.95;-3.95	5.48	3.71	0.42584	Tubby, C-terminal (4);	0.159559	0.42294	D	0.000730	D	0.92341	0.7570	M	0.85462	2.755	0.80722	D	1	P;P	0.44478	0.462;0.836	B;B	0.32090	0.125;0.14	D	0.90121	0.4199	9	.	.	.	-26.1871	11.6207	0.51115	0.1434:0.0:0.8566:0.0	.	446;499	O00294-2;O00294	.;TULP1_HUMAN	S	499;446	ENSP00000229771:P499S;ENSP00000319414:P446S	.	P	-	1	0	TULP1	35575736	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	2.097000	0.41748	0.693000	0.31634	-0.339000	0.08088	CCC		0.587	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2		Missense_Mutation	71	107	0	0	0	0	71	107				
DST	667	broad.mit.edu	37	6	56489977	56489977	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:56489977G>T	ENST00000361203.3	-	31	4182	c.4175C>A	c.(4174-4176)tCa>tAa	p.S1392*	DST_ENST00000421834.2_Nonsense_Mutation_p.S1392*|DST_ENST00000446842.2_Nonsense_Mutation_p.S1066*|DST_ENST00000518935.1_Nonsense_Mutation_p.S1066*|DST_ENST00000370769.4_Nonsense_Mutation_p.S1392*|DST_ENST00000370788.2_Nonsense_Mutation_p.S1392*|DST_ENST00000312431.6_Nonsense_Mutation_p.S1392*|DST_ENST00000244364.6_Nonsense_Mutation_p.S1066*|DST_ENST00000370754.5_Nonsense_Mutation_p.S1570*|DST_ENST00000370765.6_Nonsense_Mutation_p.S1066*			Q03001	DYST_HUMAN	dystonin	1392					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGATCTGCTGAACTCTGCAT	0.363																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4708-4710)TCA>TAA		dystonin isoform 2							142.0	144.0	143.0					6																	56489977		2203	4300	6503	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56489977G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4175C>A	6.37:g.56489977G>T	ENSP00000354508:p.Ser1392*					DST_uc003pcz.3_Nonsense_Mutation_p.S1392*|DST_uc011dxj.1_Nonsense_Mutation_p.S1421*|DST_uc011dxk.1_Nonsense_Mutation_p.S1432*|DST_uc003pcy.3_Nonsense_Mutation_p.S1066*|DST_uc003pdb.2_Nonsense_Mutation_p.S1066*|DST_uc003pdc.3_Nonsense_Mutation_p.S1066*|DST_uc003pdd.3_Nonsense_Mutation_p.S1066*	p.S1570*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		34	4737	-	Lung NSC(77;0.103)		1392					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.4709C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.451377|4.451377	0.84209|0.84209	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000522360|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.40222	.|N	.|0.001152	T|.	0.30008|.	0.0751|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29274|.	-1.0017|.	3|.	.|0.02654	.|T	.|1	.|.	18.6532|18.6532	0.91439|0.91439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	64|1066;1570;1392;1392;1066;1392;1392;1392;1066;1432;1066;1066	.|.	.|ENSP00000244364:S1066X	Q|S	-|-	1|2	0|0	DST|DST	56597936|56597936	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	6.710000|6.710000	0.74670|0.74670	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		63	273	1	0	4.6e-24	5.38e-24	63	273				
PRDM1	639	broad.mit.edu	37	6	106552717	106552717	+	Silent	SNP	C	C	T	rs186696135		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:106552717C>T	ENST00000369096.4	+	5	916	c.682C>T	c.(682-684)Cta>Tta	p.L228L	PRDM1_ENST00000369089.3_Silent_p.L94L|PRDM1_ENST00000369091.2_Silent_p.L192L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	228					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACAGAGCAGTCTAAAGCAACC	0.448			"""D, N, Mis, F, S"""		DLBCL								C|||	1	0.000199681	0.0	0.0	5008	,	,		18612	0.001		0.0	False		,,,				2504	0.0					uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(682-684)CTA>TTA		PR domain containing 1, with ZNF domain isoform							160.0	170.0	167.0					6																	106552717		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106552717C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.682C>T	6.37:g.106552717C>T						PRDM1_uc003pre.2_Silent_p.L94L	p.L228L	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	916	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	228					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.682C>T	CCDS5054.2																																																																																				0.448	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			70	332	0	0	0	0	70	332				
ARID1B	57492	broad.mit.edu	37	6	157528080	157528080	+	Silent	SNP	G	G	A	rs372334858		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr6:157528080G>A	ENST00000350026.5	+	19	5767	c.5766G>A	c.(5764-5766)gcG>gcA	p.A1922A	ARID1B_ENST00000346085.5_Silent_p.A1935A|ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCATCGCGCACTGGCAGG	0.537																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(5749-5751)GCG>GCA		AT rich interactive domain 1B (SWI1-like)							110.0	110.0	110.0					6																	157528080		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528080G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5766G>A	6.37:g.157528080G>A						ARID1B_uc003qqo.2_Silent_p.A1877A|ARID1B_uc003qqp.2_Silent_p.A1864A	p.A1917A	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5903	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1922					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5751G>A	CCDS5251.2																																																																																				0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		37	147	0	0	0	0	37	147				
COBL	23242	broad.mit.edu	37	7	51203960	51203960	+	Silent	SNP	C	C	T	rs201927430		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:51203960C>T	ENST00000265136.7	-	6	1017	c.852G>A	c.(850-852)tcG>tcA	p.S284S	COBL_ENST00000395542.2_Silent_p.S309S|COBL_ENST00000441453.1_Silent_p.S284S|COBL_ENST00000395540.2_Silent_p.S284S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	284					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.S284S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCTGCCCAGCGAGAGGGATG	0.577																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(3)|ovary(2)	5						c.(850-852)TCG>TCA		cordon-bleu homolog							64.0	57.0	60.0					7																	51203960		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51203960C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.852G>A	7.37:g.51203960C>T						COBL_uc003tps.2_Silent_p.S284S|COBL_uc011kcl.1_Silent_p.S284S|COBL_uc010kzc.2_Silent_p.S284S|COBL_uc003tpt.2_Silent_p.S284S|COBL_uc003tpp.3_Silent_p.S13S|COBL_uc003tpq.3_Silent_p.S225S	p.S284S	NM_015198	NP_056013	O75128	COBL_HUMAN			6	1037	-	Glioma(55;0.08)		284					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.852G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	4.547	0.101545	0.08731	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.53005	D	0.999964	.	.	.	.	.	.	T	0.65446	-0.6166	4	.	.	.	.	5.7385	0.18079	0.1585:0.0665:0.4029:0.372	.	.	.	.	T	203	.	.	A	-	1	0	COBL	51171454	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-3.611000	0.00415	-5.658000	0.00011	-2.295000	0.00263	GCT		0.577	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		14	69	0	0	0	0	14	69				
MUC17	140453	broad.mit.edu	37	7	100696279	100696279	+	Silent	SNP	G	G	A	rs146965923		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:100696279G>A	ENST00000306151.4	+	10	13180	c.13116G>A	c.(13114-13116)acG>acA	p.T4372T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4372					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGTGACCACGGAAACTCACT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17931	0.0		0.0	False		,,,				2504	0.001					uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(13114-13116)ACG>ACA		mucin 17 precursor		G		0,4406		0,0,2203	79.0	72.0	75.0		13116	-4.2	0.1	7	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MUC17	NM_001040105.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		4372/4494	100696279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696279G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13116G>A	7.37:g.100696279G>A						MUC17_uc010lho.1_RNA	p.T4372T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			10	13169	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4372			Extracellular (Potential).		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13116G>A	CCDS34711.1																																																																																				0.602	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	102	0	0	0	0	19	102				
SLC26A4	5172	broad.mit.edu	37	7	107330644	107330644	+	Missense_Mutation	SNP	C	C	T	rs147952620		TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:107330644C>T	ENST00000265715.3	+	10	1449	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	409			R -> H (in PDS). {ECO:0000269|PubMed:11919333, ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:15355436, ECO:0000269|PubMed:9618166, ECO:0000269|PubMed:9618167}.|R -> P (in DFNB4). {ECO:0000269|PubMed:12676893}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCTCTTTCCCGCACGGCCGT	0.493									Pendred syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		19872	0.0		0.0	False		,,,				2504	0.0					uc003vep.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7	GRCh37	CM077971	SLC26A4	M	rs147952620	c.(1225-1227)CGC>TGC		pendrin							143.0	131.0	135.0					7																	107330644		2203	4300	6503	SO:0001583	missense	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107330644C>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1225C>T	7.37:g.107330644C>T	ENSP00000265715:p.Arg409Cys					SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	p.R409C	NM_000441	NP_000432	O43511	S26A4_HUMAN			10	1449	+			409		R -> H (in PDS).|R -> P (in DFNB4).	Extracellular (Potential).		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1225C>T	CCDS5746.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.9	4.219892	0.79464	.	.	ENSG00000091137	ENST00000265715	D	0.96011	-3.88	5.1	5.1	0.69264	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98385	0.9463	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99368	1.0919	10	0.87932	D	0	.	18.7106	0.91655	0.0:1.0:0.0:0.0	.	409	O43511	S26A4_HUMAN	C	409	ENSP00000265715:R409C	ENSP00000265715:R409C	R	+	1	0	SLC26A4	107117880	0.999000	0.42202	0.997000	0.53966	0.890000	0.51754	4.164000	0.58190	2.644000	0.89710	0.561000	0.74099	CGC		0.493	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		42	145	0	0	0	0	42	145				
GCC1	79571	broad.mit.edu	37	7	127222240	127222240	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:127222240T>C	ENST00000321407.2	-	2	2580	c.2156A>G	c.(2155-2157)aAt>aGt	p.N719S	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	719	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTACTCCAGATTGGCTCCCTC	0.567																																						uc003vma.2		NA																	0				ovary(2)	2						c.(2155-2157)AAT>AGT		Golgi coiled-coil protein 1							273.0	263.0	267.0					7																	127222240		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222240T>C	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2156A>G	7.37:g.127222240T>C	ENSP00000318821:p.Asn719Ser						p.N719S	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	2574	-			719			Potential.|GRIP.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.2156A>G	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062279	0.76187	.	.	ENSG00000179562	ENST00000321407	T	0.26373	1.74	5.74	5.74	0.90152	GRIP (4);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58847	-0.7564	10	0.87932	D	0	-30.5785	14.2889	0.66263	0.0:0.0:0.0:1.0	.	719	Q96CN9	GCC1_HUMAN	S	719	ENSP00000318821:N719S	ENSP00000318821:N719S	N	-	2	0	GCC1	127009476	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.421000	0.80204	2.317000	0.78254	0.460000	0.39030	AAT		0.567	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		43	173	0	0	0	0	43	173				
SSPO	23145	broad.mit.edu	37	7	149510810	149510810	+	RNA	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr7:149510810C>T	ENST00000378016.2	+	0	10095							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGTCACTGCAGCTGCCTGG	0.697																																						uc010lpk.2		NA																	0					0						c.(10093-10095)TGC>TGT		SCO-spondin precursor							19.0	23.0	22.0					7																	149510810		2003	4156	6159			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149510810C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149510810C>T							p.C3365C	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		72	10095	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3365			TIL 5.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.10095C>T																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	39	0	0	0	0	13	39				
USP17L2	377630	broad.mit.edu	37	8	11996046	11996046	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:11996046G>A	ENST00000333796.3	-	1	540	c.224C>T	c.(223-225)cCt>cTt	p.P75L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	75					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CACCGCAGCAGGTCTCCTGCT	0.572																																						uc003wvc.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(223-225)CCT>CTT		deubiquitinating enzyme 3							29.0	38.0	35.0					8																	11996046		1130	2595	3725	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11996046G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.224C>T	8.37:g.11996046G>A	ENSP00000333329:p.Pro75Leu					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.P75L	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	224	-			75						Missense_Mutation	SNP	ENST00000333796.3	37	c.224C>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	g	0.027	-1.359244	0.01245	.	.	ENSG00000223443	ENST00000333796	T	0.14144	2.53	0.36	0.36	0.16097	.	1.524830	0.04038	N	0.302693	T	0.09335	0.0230	N	0.24115	0.695	0.35799	D	0.822976	B	0.21071	0.051	B	0.22601	0.04	T	0.34625	-0.9821	10	0.23302	T	0.38	.	4.1507	0.10237	0.0:0.4504:0.5495:1.0E-4	.	75	Q6R6M4	U17L2_HUMAN	L	75	ENSP00000333329:P75L	ENSP00000333329:P75L	P	-	2	0	USP17L2	12033455	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.341000	0.02647	0.469000	0.27268	0.472000	0.43445	CCT		0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		15	346	0	0	0	0	15	346				
RIMS2	9699	broad.mit.edu	37	8	104955091	104955091	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:104955091C>A	ENST00000436393.2	+	12	2213	c.1972C>A	c.(1972-1974)Cac>Aac	p.H658N	RIMS2_ENST00000507740.1_Missense_Mutation_p.H672N|RIMS2_ENST00000262231.10_Missense_Mutation_p.H719N|RIMS2_ENST00000406091.3_Missense_Mutation_p.H880N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	942					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCACTTCCCCACCCTTCTCC	0.388										HNSCC(12;0.0054)																												uc003yls.2		NA																	0		p.Y658S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1972-1974)CAC>AAC		regulating synaptic membrane exocytosis 2							79.0	74.0	75.0					8																	104955091		1889	4124	6013	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955091C>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1972C>A	8.37:g.104955091C>A	ENSP00000390665:p.His658Asn	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.H880N|RIMS2_uc003ylw.2_Missense_Mutation_p.H672N|RIMS2_uc003ylq.2_Missense_Mutation_p.H672N|RIMS2_uc003ylr.2_Missense_Mutation_p.H719N|RIMS2_uc003ylt.2_Missense_Mutation_p.H265N	p.H658N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		12	2213	+			942					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1972C>A		.	.	.	.	.	.	.	.	.	.	C	16.44	3.123591	0.56613	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.16457	2.34;2.84;2.52;2.5;2.42;2.82	5.17	5.17	0.71159	.	.	.	.	.	T	0.13114	0.0318	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.17268	0.006;0.0;0.004;0.002;0.021;0.007	B;B;B;B;B;B	0.14023	0.004;0.009;0.008;0.01;0.008;0.01	T	0.09530	-1.0670	9	0.38643	T	0.18	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	942;942;658;719;672;880	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	N	880;895;880;942;719;672;672;658	ENSP00000427018:H880N;ENSP00000384892:H880N;ENSP00000262231:H719N;ENSP00000423559:H672N;ENSP00000386228:H672N;ENSP00000390665:H658N	ENSP00000262231:H719N	H	+	1	0	RIMS2	105024267	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.789000	0.69029	2.552000	0.86080	0.591000	0.81541	CAC		0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		22	130	1	0	5.45e-15	6.19e-15	22	130				
FAM83H	286077	broad.mit.edu	37	8	144810795	144810795	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:144810795G>A	ENST00000388913.3	-	5	961	c.836C>T	c.(835-837)gCg>gTg	p.A279V		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	279					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCGGACTGCGCGAAGAGGAT	0.672																																						uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(835-837)GCG>GTG		FAM83H							17.0	21.0	19.0					8																	144810795		2065	4204	6269	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810795G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.836C>T	8.37:g.144810795G>A	ENSP00000373565:p.Ala279Val					FAM83H_uc010mfk.1_RNA	p.A279V	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	905	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		279					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.836C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	29.3	4.994127	0.93167	.	.	ENSG00000180921	ENST00000388913	T	0.15718	2.4	4.75	4.75	0.60458	.	0.131224	0.50627	D	0.000118	T	0.47783	0.1464	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.56721	-0.7932	10	0.87932	D	0	.	17.0716	0.86576	0.0:0.0:1.0:0.0	.	279	Q6ZRV2	FA83H_HUMAN	V	279	ENSP00000373565:A279V	ENSP00000373565:A279V	A	-	2	0	FAM83H	144882783	1.000000	0.71417	0.826000	0.32828	0.974000	0.67602	7.603000	0.82811	2.326000	0.78906	0.561000	0.74099	GCG		0.672	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		4	44	0	0	0	0	4	44				
SHB	6461	broad.mit.edu	37	9	37919970	37919970	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:37919970C>T	ENST00000377707.3	-	6	1943	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	460	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGGTTTTGGCCAGTTTCATG	0.502																																						uc004aax.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1378-1380)GCC>ACC		Src homology 2 domain containing adaptor protein							124.0	127.0	126.0					9																	37919970		1957	4154	6111	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37919970C>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1378G>A	9.37:g.37919970C>T	ENSP00000366936:p.Ala460Thr						p.A460T	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	6	1946	-		all_epithelial(88;0.122)	460			SH2.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1378G>A	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478897	0.44044	.	.	ENSG00000107338	ENST00000377707	T	0.30182	1.54	5.51	3.44	0.39384	SH2 motif (4);	0.234704	0.29846	N	0.011042	T	0.12561	0.0305	N	0.10760	0.04	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09729	-1.0661	10	0.33141	T	0.24	-22.2003	2.9378	0.05820	0.2161:0.5358:0.0:0.2481	.	460	Q15464	SHB_HUMAN	T	460	ENSP00000366936:A460T	ENSP00000366936:A460T	A	-	1	0	SHB	37909970	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.440000	0.21592	1.323000	0.45263	0.655000	0.94253	GCC		0.502	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			5	161	0	0	0	0	5	161				
GADD45G	10912	broad.mit.edu	37	9	92220945	92220945	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:92220945A>C	ENST00000252506.6	+	4	540	c.431A>C	c.(430-432)gAg>gCg	p.E144A	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Missense_Mutation_p.E126A	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	144					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						TTTTGCGAGGAGAGCCGCAGC	0.682																																					Colon(131;320 2336 18973 23919)	uc004aqq.2		NA																	0					0						c.(430-432)GAG>GCG		growth arrest and DNA-damage-inducible, gamma							46.0	47.0	47.0					9																	92220945		2203	4300	6503	SO:0001583	missense	10912				activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	g.chr9:92220945A>C	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.431A>C	9.37:g.92220945A>C	ENSP00000252506:p.Glu144Ala					GADD45G_uc004aqr.2_Missense_Mutation_p.E126A	p.E144A	NM_006705	NP_006696	O95257	GA45G_HUMAN			4	541	+			144					Q5VZ87|Q9C076	Missense_Mutation	SNP	ENST00000252506.6	37	c.431A>C	CCDS6686.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662208	0.47572	.	.	ENSG00000130222	ENST00000252506;ENST00000375769	T;T	0.55588	0.51;0.54	4.38	3.21	0.36854	.	0.125324	0.56097	D	0.000021	T	0.72431	0.3459	M	0.86740	2.835	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.73145	-0.4075	10	0.45353	T	0.12	-13.5663	10.2782	0.43523	0.8334:0.1666:0.0:0.0	.	144	O95257	GA45G_HUMAN	A	144;126	ENSP00000252506:E144A;ENSP00000364924:E126A	ENSP00000252506:E144A	E	+	2	0	GADD45G	91410765	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	5.519000	0.67074	0.810000	0.34279	-0.313000	0.08912	GAG		0.682	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1	NM_006705		4	30	0	0	0	0	4	30				
CCDC180	100499483	broad.mit.edu	37	9	100075586	100075586	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:100075586G>A	ENST00000357054.1	+	19	1902	c.967G>A	c.(967-969)Gct>Act	p.A323T	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.A184T|CCDC180_ENST00000395220.1_Missense_Mutation_p.A323T|CCDC180_ENST00000375202.2_Missense_Mutation_p.A184T|CCDC180_ENST00000411667.2_Missense_Mutation_p.A184T|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	323						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTACGAGAGCGCTCTGGCCAG	0.542																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(967-969)GCT>ACT		hypothetical protein LOC57653							137.0	110.0	119.0					9																	100075586		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100075586G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.967G>A	9.37:g.100075586G>A	ENSP00000349562:p.Ala323Thr					KIAA1529_uc004axe.1_Missense_Mutation_p.A323T|KIAA1529_uc004axg.1_Missense_Mutation_p.A184T|KIAA1529_uc011lus.1_Missense_Mutation_p.A184T|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A184T|KIAA1529_uc011luv.1_Missense_Mutation_p.A184T	p.A323T	NM_020893	NP_065944					17	1740	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.967G>A		.	.	.	.	.	.	.	.	.	.	G	12.79	2.044933	0.36085	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.71	-0.743	0.11105	.	0.899961	0.09662	N	0.772245	T	0.13543	0.0328	L	0.41415	1.275	0.09310	N	1	B;B;P;B	0.39624	0.333;0.212;0.681;0.131	B;B;B;B	0.26614	0.071;0.029;0.071;0.029	T	0.17440	-1.0369	10	0.33940	T	0.23	-0.2439	4.0523	0.09801	0.3062:0.0:0.4176:0.2762	.	184;323;184;323	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	T	323;323;184;184;207;184	ENSP00000349562:A323T;ENSP00000378646:A323T;ENSP00000364348:A184T;ENSP00000414000:A184T;ENSP00000434727:A184T	ENSP00000349562:A323T	A	+	1	0	C9orf174	99115407	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.449000	0.21744	-0.080000	0.12685	-0.215000	0.12644	GCT		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		18	135	0	0	0	0	18	135				
NCBP1	4686	broad.mit.edu	37	9	100424349	100424349	+	Silent	SNP	G	G	A			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr9:100424349G>A	ENST00000375147.3	+	17	1882	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	542					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TTAACCCATTGAAAATAGAAG	0.373																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2		NA																	0				central_nervous_system(1)	1						c.(1624-1626)TTG>TTA		nuclear cap binding protein subunit 1, 80kDa							64.0	65.0	64.0					9																	100424349		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100424349G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1626G>A	9.37:g.100424349G>A							p.L542L	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			17	2085	+		Acute lymphoblastic leukemia(62;0.158)	542					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.1626G>A	CCDS6728.1																																																																																				0.373	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		12	96	0	0	0	0	12	96				
KIAA1210	57481	broad.mit.edu	37	X	118217058	118217058	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chrX:118217058T>C	ENST00000402510.2	-	13	4873	c.4874A>G	c.(4873-4875)cAa>cGa	p.Q1625R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1625										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTTTTAGGTTGGTTTTCATT	0.388																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(4873-4875)CAA>CGA		hypothetical protein LOC57481							200.0	168.0	178.0					X																	118217058		1879	4097	5976	SO:0001583	missense	57481							g.chrX:118217058T>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4874A>G	X.37:g.118217058T>C	ENSP00000384670:p.Gln1625Arg						p.Q1625R	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			13	4874	-			1625					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4874A>G	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178297	0.38511	.	.	ENSG00000250423	ENST00000402510	T	0.10763	2.84	5.07	3.88	0.44766	.	.	.	.	.	T	0.22475	0.0542	M	0.68952	2.095	0.09310	N	1	D	0.61697	0.99	P	0.61592	0.891	T	0.10520	-1.0626	9	0.16420	T	0.52	.	8.0418	0.30526	0.0:0.0:0.2116:0.7884	.	1625	Q9ULL0	K1210_HUMAN	R	1625	ENSP00000384670:Q1625R	ENSP00000384670:Q1625R	Q	-	2	0	RP13-347D8.6	118101086	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.117000	0.15583	0.669000	0.31146	0.417000	0.27973	CAA		0.388	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		34	61	0	0	0	0	34	61				
CTCF	10664	broad.mit.edu	37	16	67645241	67645242	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr16:67645241_67645242insG	ENST00000264010.4	+	3	950_951	c.506_507insG	c.(505-510)gtggggfs	p.VG169fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	169					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGGTTAAAGTGGGGGCCAATG	0.505																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(505-507)GTGfs		CCCTC-binding factor																																				SO:0001589	frameshift_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645241_67645242insG	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.511dupG	16.37:g.67645246_67645246dupG	ENSP00000264010:p.Val169fs					CTCF_uc010cek.2_Intron	p.V169fs	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	796_797	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	169					B5MC38|Q53XI7|Q59EL8	Frame_Shift_Ins	INS	ENST00000264010.4	37	c.506_507insG	CCDS10841.1																																																																																				0.505	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		19	122	NA	NA	NA	NA	19	122	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202149679	202149688	+	Frame_Shift_Del	DEL	CTCTCCCATG	CTCTCCCATG	-			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:202149679_202149688delCTCTCCCATG	ENST00000432109.2	+	9	1132_1141	c.943_952delCTCTCCCATG	c.(943-954)ctctcccatggafs	p.LSHG315fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.LSHG300fs|CASP8_ENST00000358485.4_Frame_Shift_Del_p.LSHG374fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.LSHG231fs|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Frame_Shift_Del_p.LSHG332fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	315					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTGTATCCTCTCCCATGGAGACAAGGG	0.486										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(943-954)CTCTCCCATGGAfs		caspase 8 isoform B precursor																																				SO:0001589	frameshift_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149679_202149688delCTCTCCCATG	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.943_952delCTCTCCCATG	2.37:g.202149679_202149688delCTCTCCCATG	ENSP00000412523:p.Leu315fs	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Frame_Shift_Del_p.L332fs|CASP8_uc002uxq.1_Frame_Shift_Del_p.L300fs|CASP8_uc002uxt.1_Frame_Shift_Del_p.L374fs|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Frame_Shift_Del_p.L300fs|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Frame_Shift_Del_p.L231fs	p.L315fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1152_1161	+			315_318					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	c.943_952delCTCTCCCATG	CCDS2342.1																																																																																				0.486	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		41	199	NA	NA	NA	NA	41	199	---	---	---	---
NPPC	4880	broad.mit.edu	37	2	232790411	232790412	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr2:232790411_232790412insG	ENST00000409852.1	-	2	257_258	c.104_105insC	c.(103-105)ccgfs	p.P35fs	NPPC_ENST00000295440.2_Frame_Shift_Ins_p.P35fs	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	35					cGMP biosynthetic process (GO:0006182)|growth plate cartilage chondrocyte differentiation (GO:0003418)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of vasodilation (GO:0045909)|post-embryonic development (GO:0009791)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood vessel size (GO:0050880)|regulation of cAMP metabolic process (GO:0030814)|regulation of cGMP metabolic process (GO:0030823)|regulation of multicellular organism growth (GO:0040014)|regulation of smooth muscle cell proliferation (GO:0048660)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|single organism reproductive process (GO:0044702)	extracellular space (GO:0005615)|secretory granule (GO:0030141)	receptor binding (GO:0005102)						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		CCTCTGCCGGCGGGGTTCGCGG	0.743																																						uc002vsl.1		NA																	0					0						c.(103-105)CCGfs		natriuretic peptide precursor C precursor																																				SO:0001589	frameshift_variant	4880				cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity	g.chr2:232790411_232790412insG		CCDS2489.1	2q37.1	2014-01-30	2010-11-09		ENSG00000163273	ENSG00000163273		"""Endogenous ligands"""	7941	protein-coding gene	gene with protein product		600296	"""natriuretic peptide precursor C"""			7698765, 8330189	Standard	NM_024409		Approved	CNP	uc002vsl.2	P23582	OTTHUMG00000133232	ENST00000409852.1:c.105dupC	2.37:g.232790415_232790415dupG	ENSP00000387159:p.Pro35fs						p.P35fs	NM_024409	NP_077720	P23582	ANFC_HUMAN		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)	2	104_105	-		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	35					Q4ZG41	Frame_Shift_Ins	INS	ENST00000409852.1	37	c.104_105insC	CCDS2489.1																																																																																				0.743	NPPC-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331011.1	NM_024409		7	8	NA	NA	NA	NA	7	8	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113662425	113662425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-5151-01A-01D-1434-08	TCGA-BA-5151-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac15d7e-3930-4fcb-b752-4a4f00449ddd	7e57b010-763c-4a96-bab3-1016647a1569	g.chr8:113662425delT	ENST00000297405.5	-	19	3402	c.3158delA	c.(3157-3159)aacfs	p.N1053fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N949fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N1013fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N1053fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCACCAGTGGTTTTTTTCGCA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3157-3159)AACfs		CUB and Sushi multiple domains 3 isoform 1							112.0	111.0	111.0					8																	113662425		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113662425delT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3158delA	8.37:g.113662425delT	ENSP00000297405:p.Asn1053fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.N325fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.N1013fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.N949fs	p.N1053fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			19	3317	-			1053			Extracellular (Potential).|Sushi 5.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.3158delA	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	318	NA	NA	NA	NA	7	318	---	---	---	---
