#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PRDM16	63976	broad.mit.edu	37	1	3319489	3319489	+	Missense_Mutation	SNP	G	G	C	rs200052869		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:3319489G>C	ENST00000270722.5	+	6	860	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	PRDM16_ENST00000378391.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.E272Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	271			E -> K (in CMD1LL). {ECO:0000269|PubMed:23768516}.		brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.E271Q(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCAAGCCCGAGGGCCTTGG	0.637			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(811-813)GAG>CAG		PR domain containing 16 isoform 1																																				SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3319489G>C	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.811G>C	1.37:g.3319489G>C	ENSP00000270722:p.Glu271Gln					PRDM16_uc001akc.2_Missense_Mutation_p.E271Q|PRDM16_uc001akd.2_Missense_Mutation_p.E271Q|PRDM16_uc001ake.2_Missense_Mutation_p.E271Q|PRDM16_uc009vlh.2_5'UTR	p.E271Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	6	891	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	271					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.811G>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036757	0.35893	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06142	3.35;3.37;3.39;3.38;3.37;3.37;3.38;3.35;3.34	4.32	2.34	0.29019	.	0.463174	0.16770	U	0.200255	T	0.09598	0.0236	L	0.36672	1.1	0.38109	D	0.937511	P;P;P;P	0.51240	0.678;0.943;0.615;0.729	B;P;B;B	0.52066	0.251;0.689;0.146;0.334	T	0.16867	-1.0388	10	0.56958	D	0.05	.	8.5825	0.33637	0.0873:0.1544:0.7583:0.0	.	271;271;271;271	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	272;272;271;271;271;272;271;87;87;80	ENSP00000426975:E272Q;ENSP00000367651:E272Q;ENSP00000407968:E271Q;ENSP00000405253:E271Q;ENSP00000367643:E271Q;ENSP00000421400:E272Q;ENSP00000270722:E271Q;ENSP00000422504:E87Q;ENSP00000425796:E80Q	ENSP00000270722:E271Q	E	+	1	0	PRDM16	3309349	1.000000	0.71417	0.007000	0.13788	0.196000	0.23810	4.597000	0.61062	0.247000	0.21414	0.561000	0.74099	GAG		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		15	55	0	0	0	0.007413	0	15	55		
CHD5	26038	broad.mit.edu	37	1	6173059	6173059	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6173059C>G	ENST00000262450.3	-	34	5012		c.e34-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.?(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCACCTCCTCTGCAAGAAAA	0.562																																						uc001amb.1		NaN																	1	Unknown(1)		urinary_tract(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.e34-1		chromodomain helicase DNA binding protein 5							86.0	79.0	82.0					1																	6173059		2203	4300	6503	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6173059C>G	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4913-1G>C	1.37:g.6173059C>G						CHD5_uc001alz.1_Splice_Site_p.E495_splice|CHD5_uc001ama.1_Splice_Site	p.E1638_splice	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5013	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)						A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	ENST00000262450.3	37	c.4913_splice	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117722	0.37339	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4866	0.67622	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6095646	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	4.221000	0.58574	2.507000	0.84556	0.561000	0.74099	.		0.562	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557	Intron	15	66	0	0	0	0.00245	0	15	66		
ZBTB48	3104	broad.mit.edu	37	1	6649195	6649195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6649195G>A	ENST00000377674.4	+	11	2148	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	664					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E664K(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTGCAGAGGAGAGCTTCAC	0.667																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1990-1992)GAG>AAG		zinc finger and BTB domain containing 48							44.0	48.0	47.0					1																	6649195		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6649195G>A	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1990G>A	1.37:g.6649195G>A	ENSP00000366902:p.Glu664Lys					ZBTB48_uc001anx.2_Missense_Mutation_p.E664K|ZBTB48_uc009vmd.1_Missense_Mutation_p.E664K|ZBTB48_uc001any.1_Missense_Mutation_p.E302K	p.E664K	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	11	2113	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	664					Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.1990G>A	CCDS84.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821548	0.50633	.	.	ENSG00000204859	ENST00000377674	T	0.10099	2.91	5.75	3.9	0.45041	.	0.407067	0.25830	N	0.028025	T	0.06234	0.0161	N	0.19112	0.55	0.34101	D	0.661917	B	0.09022	0.002	B	0.10450	0.005	T	0.22068	-1.0227	10	0.02654	T	1	-21.7114	11.8088	0.52171	0.1411:0.0:0.8589:0.0	.	664	P10074	ZBT48_HUMAN	K	664	ENSP00000366902:E664K	ENSP00000366902:E664K	E	+	1	0	ZBTB48	6571782	1.000000	0.71417	0.094000	0.20943	0.513000	0.34164	6.818000	0.75257	0.922000	0.37019	0.655000	0.94253	GAG		0.667	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1		NM_005341		15	71	0	0	0	0.00245	0	15	71		
CAMTA1	23261	broad.mit.edu	37	1	6885189	6885189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6885189C>G	ENST00000303635.7	+	3	360	c.153C>G	c.(151-153)atC>atG	p.I51M	CAMTA1_ENST00000473578.1_Missense_Mutation_p.I51M|CAMTA1_ENST00000439411.2_Missense_Mutation_p.I51M|CAMTA1_ENST00000467404.2_Missense_Mutation_p.I63M|CAMTA1_ENST00000476163.1_3'UTR|CAMTA1_ENST00000557126.1_Missense_Mutation_p.I51M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I51I(1)|p.I51M(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGTAAAAATCTTTTTACCGA	0.323			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(1)|breast(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(151-153)ATC>ATG		calmodulin-binding transcription activator 1							71.0	77.0	75.0					1																	6885189		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:6885189C>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.153C>G	1.37:g.6885189C>G	ENSP00000306522:p.Ile51Met					CAMTA1_uc001aoh.2_RNA	p.I51M	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	3	360	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	51					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.153C>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143073	0.77888	.	.	ENSG00000171735	ENST00000303635;ENST00000473578;ENST00000557126;ENST00000467404;ENST00000439411	T;T	0.27890	1.64;1.64	6.05	6.05	0.98169	.	0.220207	0.30383	N	0.009744	T	0.36963	0.0986	N	0.08118	0	0.38883	D	0.956958	D	0.71674	0.998	D	0.63488	0.915	T	0.48352	-0.9043	10	0.87932	D	0	-19.5998	19.5894	0.95501	0.0:1.0:0.0:0.0	.	51	Q9Y6Y1	CMTA1_HUMAN	M	51;51;51;63;51	ENSP00000306522:I51M;ENSP00000402561:I51M	ENSP00000306522:I51M	I	+	3	3	CAMTA1	6807776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.850000	0.69473	2.878000	0.98634	0.650000	0.86243	ATC		0.323	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		27	97	0	0	0	0.005443	0	27	97		
UTS2	10911	broad.mit.edu	37	1	7907829	7907829	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:7907829G>C	ENST00000361696.5	-	4	403	c.372C>G	c.(370-372)gtC>gtG	p.V124V	UTS2_ENST00000054668.5_Silent_p.V139V|UTS2_ENST00000377516.2_Intron	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	124					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.V124V(1)|p.V139V(1)		kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		TTTCACTTCAGACACAGTATT	0.373																																						uc001aor.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(370-372)GTC>GTG		urotensin 2 isoform b preproprotein							172.0	170.0	170.0					1																	7907829		2203	4300	6503	SO:0001819	synonymous_variant	10911				muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	g.chr1:7907829G>C	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.372C>G	1.37:g.7907829G>C						UTS2_uc001aoq.2_Intron|UTS2_uc001aos.2_Silent_p.V139V	p.V124V	NM_006786	NP_006777	O95399	UTS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)	4	413	-	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	124					Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	ENST00000361696.5	37	c.372C>G	CCDS91.1																																																																																				0.373	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1		NM_006786		47	266	0	0	0	0.01441	0	47	266		
SRM	6723	broad.mit.edu	37	1	11115915	11115915	+	Missense_Mutation	SNP	C	C	T	rs369985656		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:11115915C>T	ENST00000376957.2	-	6	768	c.688G>A	c.(688-690)Gtg>Atg	p.V230M		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	230	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)	p.V230M(1)		large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	TAGGCCACCACGGGGAACAGG	0.642																																						uc001arz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(688-690)GTG>ATG		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	38.0	31.0	34.0		688	2.3	0.4	1		34	0,8600		0,0,4300	no	missense	SRM	NM_003132.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	230/303	11115915	1,13005	2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11115915C>T	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.688G>A	1.37:g.11115915C>T	ENSP00000366156:p.Val230Met					SRM_uc001ary.1_Missense_Mutation_p.V91M	p.V230M	NM_003132	NP_003123	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	6	779	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	230					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.688G>A	CCDS125.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170713	0.57584	2.27E-4	0.0	ENSG00000116649	ENST00000376957	T	0.77358	-1.09	5.25	2.3	0.28687	.	0.120211	0.56097	D	0.000031	D	0.84813	0.5555	M	0.82823	2.61	0.45806	D	0.998686	D	0.76494	0.999	D	0.66716	0.946	T	0.81629	-0.0846	10	0.48119	T	0.1	.	6.3185	0.21204	0.1379:0.6566:0.1329:0.0726	.	230	P19623	SPEE_HUMAN	M	230	ENSP00000366156:V230M	ENSP00000366156:V230M	V	-	1	0	SRM	11038502	1.000000	0.71417	0.402000	0.26371	0.853000	0.48598	5.715000	0.68430	0.334000	0.23590	0.561000	0.74099	GTG		0.642	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1		NM_003132		3	24	0	0	0	0.000602	0	3	24		
CROCC	9696	broad.mit.edu	37	1	17249254	17249254	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:17249254G>A	ENST00000375541.5	+	2	226	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E53K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCTTATCAGGGAGATTGTCAC	0.622																																						uc001azt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(157-159)GAG>AAG		ciliary rootlet coiled-coil							87.0	82.0	84.0					1																	17249254		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17249254G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.157G>A	1.37:g.17249254G>A	ENSP00000364691:p.Glu53Lys					CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_5'UTR	p.E53K	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	2	226	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	53						Missense_Mutation	SNP	ENST00000375541.5	37	c.157G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496166	0.44352	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.15139	2.45	5.55	4.64	0.57946	.	.	.	.	.	T	0.19327	0.0464	M	0.66939	2.045	0.38583	D	0.950239	B	0.31318	0.319	B	0.27170	0.077	T	0.05784	-1.0864	9	0.72032	D	0.01	.	10.2948	0.43618	0.091:0.0:0.909:0.0	.	53	Q5TZA2	CROCC_HUMAN	K	53;24	ENSP00000364691:E53K	ENSP00000364691:E53K	E	+	1	0	CROCC	17121841	1.000000	0.71417	0.867000	0.34043	0.582000	0.36321	3.427000	0.52785	1.340000	0.45581	0.655000	0.94253	GAG		0.622	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2		NM_014675		35	109	0	0	0	0.003755	0	35	109		
UBR4	23352	broad.mit.edu	37	1	19487565	19487565	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:19487565A>G	ENST00000375254.3	-	38	5279	c.5252T>C	c.(5251-5253)aTt>aCt	p.I1751T	UBR4_ENST00000375217.2_Missense_Mutation_p.I1751T|UBR4_ENST00000375226.2_Missense_Mutation_p.I1751T|UBR4_ENST00000375267.2_Missense_Mutation_p.I1751T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1751					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I1751T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTCTCTGAAATCCTGGGTTC	0.517																																						uc001bbi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(5251-5253)ATT>ACT		retinoblastoma-associated factor 600							91.0	77.0	82.0					1																	19487565		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19487565A>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5252T>C	1.37:g.19487565A>G	ENSP00000364403:p.Ile1751Thr					UBR4_uc001bbm.1_Missense_Mutation_p.I962T	p.I1751T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	38	5256	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1751					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.5252T>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446256	0.25987	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.93	5.93	0.95920	.	0.115779	0.64402	D	0.000013	T	0.10078	0.0247	N	0.03608	-0.345	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.20140	-1.0284	10	0.34782	T	0.22	.	11.4261	0.50012	0.9305:0.0:0.0694:0.0	.	1751	Q5T4S7	UBR4_HUMAN	T	1751;1751;1751;1751;461;967	ENSP00000364403:I1751T;ENSP00000364416:I1751T;ENSP00000364365:I1751T;ENSP00000364374:I1751T	ENSP00000364365:I1751T	I	-	2	0	UBR4	19360152	0.997000	0.39634	0.998000	0.56505	0.938000	0.57974	3.589000	0.53972	2.281000	0.76405	0.533000	0.62120	ATT		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		6	92	0	0	0	0.001168	0	6	92		
AKR7L	246181	broad.mit.edu	37	1	19595155	19595155	+	RNA	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:19595155C>A	ENST00000429712.1	-	0	864				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)	p.E71*(1)		breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						AGGGCCTTCTCCACCAGGGCA	0.632																																						uc010ocx.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(745-747)GAG>TAG		aflatoxin B1 aldehyde reductase 3 isoform 1							86.0	78.0	80.0					1																	19595155		2203	4300	6503			246181							g.chr1:19595155C>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595155C>A						AKR7L_uc010ocy.1_Missense_Mutation_p.G183V	p.E249*	NM_201252	NP_957704					7	745	-								Q5U614	Nonsense_Mutation	SNP	ENST00000429712.1	37	c.745G>T		.	.	.	.	.	.	.	.	.	.	C	16.55	3.155822	0.57259	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	.	.	.	3.17	2.18	0.27775	.	0.394061	0.28420	N	0.015402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.3182	0.15866	0.0:0.464:0.4139:0.122	.	.	.	.	X	71;139;249;214	.	ENSP00000373538:E214X	E	-	1	0	AKR7L	19467742	1.000000	0.71417	0.980000	0.43619	0.036000	0.12997	2.095000	0.41729	0.599000	0.29845	0.460000	0.39030	GAG		0.632	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3		NM_201252		14	86	1	0	2.32078e-09	0.003163	2.39697e-09	14	86		
RNF186	54546	broad.mit.edu	37	1	20141360	20141360	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:20141360A>T	ENST00000375121.2	-	1	411	c.235T>A	c.(235-237)Tcc>Acc	p.S79T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	79						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S79T(1)		kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGATGGACCAGGTGTTG	0.692																																						uc001bcr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(235-237)TCC>ACC		ring finger protein 186							50.0	47.0	48.0					1																	20141360		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141360A>T		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.235T>A	1.37:g.20141360A>T	ENSP00000364263:p.Ser79Thr						p.S79T	NM_019062	NP_061935	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	412	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	79			RING-type.		Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.235T>A	CCDS199.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250230	0.39797	.	.	ENSG00000178828	ENST00000375121	T	0.67865	-0.29	5.84	0.518	0.17030	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.515706	0.17405	N	0.175404	T	0.41373	0.1156	L	0.28556	0.865	0.26306	N	0.977908	B	0.20052	0.041	B	0.14578	0.011	T	0.12066	-1.0562	10	0.08179	T	0.78	-25.5193	1.8018	0.03073	0.2996:0.3512:0.0818:0.2674	.	79	Q9NXI6	RN186_HUMAN	T	79	ENSP00000364263:S79T	ENSP00000364263:S79T	S	-	1	0	RNF186	20013947	0.839000	0.29477	0.985000	0.45067	0.998000	0.95712	0.473000	0.22132	0.413000	0.25759	0.528000	0.53228	TCC		0.692	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1		NM_019062		38	26	0	0	0	0.007835	0	38	26		
EPHA8	2046	broad.mit.edu	37	1	22924702	22924702	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:22924702G>C	ENST00000166244.3	+	12	2247	c.2175G>C	c.(2173-2175)ctG>ctC	p.L725L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L725L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACACCTTCCTGAGGGTGCGTG	0.627																																						uc001bfx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2173-2175)CTG>CTC		ephrin receptor EphA8 isoform 1 precursor							98.0	95.0	96.0					1																	22924702		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924702G>C	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2175G>C	1.37:g.22924702G>C							p.L725L	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	12	2300	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	725			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2175G>C	CCDS225.1																																																																																				0.627	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526		23	121	0	0	0	0.005443	0	23	121		
TCEA3	6920	broad.mit.edu	37	1	23713897	23713897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:23713897C>T	ENST00000450454.2	-	9	941	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	279	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E279K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCCTCAGTTCATCACTGGCC	0.557																																						uc001bgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(835-837)GAA>AAA		transcription elongation factor A (SII), 3							57.0	57.0	57.0					1																	23713897		2136	4262	6398	SO:0001583	missense	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23713897C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.835G>A	1.37:g.23713897C>T	ENSP00000406293:p.Glu279Lys					TCEA3_uc009vqm.1_Missense_Mutation_p.E48K	p.E279K	NM_003196	NP_003187	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	9	970	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	279			TFIIS central.		A8K2K7|Q5DR83	Missense_Mutation	SNP	ENST00000450454.2	37	c.835G>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705119	0.88924	.	.	ENSG00000204219	ENST00000450454	T	0.55760	0.5	5.16	4.25	0.50352	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77440	-0.2587	10	0.87932	D	0	-17.2608	12.7098	0.57083	0.0:0.9194:0.0:0.0806	.	279	O75764	TCEA3_HUMAN	K	279	ENSP00000406293:E279K	ENSP00000406293:E279K	E	-	1	0	TCEA3	23586484	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.987000	0.70571	1.340000	0.45581	0.655000	0.94253	GAA		0.557	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2		NM_003196		17	11	0	0	0	0.00499	0	17	11		
E2F2	1870	broad.mit.edu	37	1	23848342	23848342	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:23848342T>C	ENST00000361729.2	-	3	991	c.565A>G	c.(565-567)Aac>Gac	p.N189D	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	189					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.N189D(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CACTGGATGTTGTTCTTGGCC	0.602																																						uc001bhe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(565-567)AAC>GAC		E2F transcription factor 2							126.0	108.0	114.0					1																	23848342		2203	4300	6503	SO:0001583	missense	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23848342T>C	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.565A>G	1.37:g.23848342T>C	ENSP00000355249:p.Asn189Asp						p.N189D	NM_004091	NP_004082	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	3	993	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	189			DEF box.|Potential.		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	c.565A>G	CCDS236.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012581	0.75161	.	.	ENSG00000007968	ENST00000361729	T	0.09255	3.0	5.35	2.83	0.33086	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.112392	0.56097	D	0.000024	T	0.26882	0.0658	M	0.91972	3.26	0.51767	D	0.999936	P	0.43938	0.822	P	0.47744	0.556	T	0.15896	-1.0421	10	0.49607	T	0.09	-39.2392	11.4802	0.50320	0.0:0.0:0.3816:0.6184	.	189	Q14209	E2F2_HUMAN	D	189	ENSP00000355249:N189D	ENSP00000355249:N189D	N	-	1	0	E2F2	23720929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.742000	0.38248	0.834000	0.34852	0.482000	0.46254	AAC		0.602	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1		NM_004091		11	89	0	0	0	0.010729	0	11	89		
GRHL3	57822	broad.mit.edu	37	1	24661179	24661179	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:24661179G>A	ENST00000350501.5	+	3	376	c.249G>A	c.(247-249)agG>agA	p.R83R	GRHL3_ENST00000530984.1_Intron|GRHL3_ENST00000356046.2_Silent_p.R37R|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000361548.4_Silent_p.R83R|GRHL3_ENST00000236255.4_Silent_p.R88R	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	83					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R88R(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTGGGGGCAGGAATGACCAAG	0.542																																						uc001biy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(262-264)AGG>AGA		sister-of-mammalian grainyhead protein isoform							158.0	152.0	154.0					1																	24661179		2203	4300	6503	SO:0001819	synonymous_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24661179G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.249G>A	1.37:g.24661179G>A						GRHL3_uc001bix.2_Silent_p.R83R|GRHL3_uc001biz.2_5'UTR	p.R88R	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	3	310	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	83					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	ENST00000350501.5	37	c.264G>A	CCDS252.2																																																																																				0.542	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		NM_021180		19	211	0	0	0	0.008871	0	19	211		
GPATCH3	63906	broad.mit.edu	37	1	27216404	27216404	+	IGR	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27216404C>T	ENST00000361720.5	-	0	2123				GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_Missense_Mutation_p.E62K	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)	p.E62K(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CCCACCAGCTCGCCCACGTCC	0.701																																						uc001bnd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(184-186)GAG>AAG		ATP binding domain 1 family, member B							32.0	29.0	30.0					1																	27216404		2198	4296	6494	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27216404C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216404C>T							p.E62K	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			1	466	-			62					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.184G>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063049	0.93898	.	.	ENSG00000142751	ENST00000374135	T	0.30182	1.54	4.67	4.67	0.58626	.	0.058064	0.64402	D	0.000003	T	0.41789	0.1174	M	0.67517	2.055	0.80722	D	1	P	0.40638	0.725	P	0.45195	0.473	T	0.37888	-0.9686	10	0.46703	T	0.11	-30.9372	17.3707	0.87376	0.0:1.0:0.0:0.0	.	62	Q9H9Y4	GPN2_HUMAN	K	62	ENSP00000363250:E62K	ENSP00000363250:E62K	E	-	1	0	GPN2	27088991	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.848000	0.69458	2.426000	0.82243	0.563000	0.77884	GAG		0.701	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1		NM_022078		34	10	0	0	0	0.004878	0	34	10		
SYTL1	84958	broad.mit.edu	37	1	27675622	27675622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27675622G>A	ENST00000543823.1	+	5	973	c.511G>A	c.(511-513)Gag>Aag	p.E171K	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.E159K			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	171					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)	p.E159K(1)|p.E171K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGATCCTGAGGAGGCGTCCCA	0.617																																						uc001bnw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(511-513)GAG>AAG		synaptotagmin-like 1							80.0	84.0	83.0					1																	27675622		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27675622G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.511G>A	1.37:g.27675622G>A	ENSP00000440704:p.Glu171Lys					SYTL1_uc001bnv.1_Missense_Mutation_p.E159K|SYTL1_uc009vsu.1_Missense_Mutation_p.E159K|SYTL1_uc001bnx.2_Missense_Mutation_p.E171K|SYTL1_uc009vsv.1_Missense_Mutation_p.E171K	p.E171K	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	6	678	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	171					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.511G>A	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635880	0.87760	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.44881	0.91;0.91	4.12	4.12	0.48240	.	.	.	.	.	T	0.56499	0.1989	M	0.63428	1.95	0.24522	N	0.994152	B;D;B;P	0.71674	0.085;0.998;0.085;0.673	B;D;B;B	0.66196	0.02;0.942;0.036;0.307	T	0.44711	-0.9310	9	0.23302	T	0.38	-8.8024	12.0398	0.53446	0.0:0.0:1.0:0.0	.	171;171;171;159	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	K	159;171	ENSP00000316464:E159K;ENSP00000440704:E171K	ENSP00000316464:E159K	E	+	1	0	SYTL1	27548209	0.954000	0.32549	0.859000	0.33776	0.214000	0.24535	3.398000	0.52579	2.287000	0.76781	0.462000	0.41574	GAG		0.617	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032872		20	53	0	0	0	0.007413	0	20	53		
FCN3	8547	broad.mit.edu	37	1	27695779	27695779	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:27695779G>C	ENST00000270879.4	-	8	853	c.848C>G	c.(847-849)tCa>tGa	p.S283*	MAP3K6_ENST00000493901.1_5'Flank|MAP3K6_ENST00000374040.3_5'Flank|MAP3K6_ENST00000357582.2_5'Flank|FCN3_ENST00000354982.2_Nonsense_Mutation_p.S272*	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	283	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.S283*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCACGGCCTGAGGCCCAGTC	0.577																																						uc001boa.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(847-849)TCA>TGA		ficolin 3 isoform 1 precursor							106.0	94.0	98.0					1																	27695779		2203	4300	6503	SO:0001587	stop_gained	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27695779G>C	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.848C>G	1.37:g.27695779G>C	ENSP00000270879:p.Ser283*					MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Nonsense_Mutation_p.S272*	p.S283*	NM_003665	NP_003656	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	8	854	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	283			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Nonsense_Mutation	SNP	ENST00000270879.4	37	c.848C>G	CCDS300.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958396	0.92726	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	.	.	.	4.41	4.41	0.53225	.	7.595970	0.00481	N	0.000140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.5313	0.67929	0.0:0.0:1.0:0.0	.	.	.	.	X	283;272	.	ENSP00000270879:S283X	S	-	2	0	FCN3	27568366	0.610000	0.26983	0.129000	0.21949	0.994000	0.84299	5.705000	0.68355	2.295000	0.77249	0.561000	0.74099	TCA		0.577	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1				10	65	0	0	0	0.010729	0	10	65		
SDC3	9672	broad.mit.edu	37	1	31346158	31346158	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:31346158C>T	ENST00000339394.6	-	5	1403	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	SDC3_ENST00000336798.7_Missense_Mutation_p.R352H	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	410					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R410H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTTCATACGATAGATGAG	0.562																																						uc001bse.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1228-1230)CGT>CAT		syndecan 3							123.0	104.0	111.0					1																	31346158		2203	4300	6503	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31346158C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1229G>A	1.37:g.31346158C>T	ENSP00000344468:p.Arg410His					SDC3_uc001bsd.2_Missense_Mutation_p.R352H	p.R410H	NM_014654	NP_055469	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	5	1276	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	410			Cytoplasmic (Potential).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.1229G>A	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	C	36	5.883757	0.97062	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.81415	-1.45;-1.49	5.3	5.3	0.74995	Neurexin/syndecan/glycophorin C (1);	0.000000	0.64402	D	0.000014	D	0.85128	0.5626	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87038	0.2139	10	0.87932	D	0	-10.5787	18.5454	0.91044	0.0:1.0:0.0:0.0	.	410;352	O75056;D3DPN2	SDC3_HUMAN;.	H	352;410	ENSP00000338346:R352H;ENSP00000344468:R410H	ENSP00000338346:R352H	R	-	2	0	SDC3	31118745	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.502000	0.84385	0.462000	0.41574	CGT		0.562	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1		NM_014654		13	66	0	0	0	0.00245	0	13	66		
RBBP4	5928	broad.mit.edu	37	1	33138430	33138430	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:33138430C>T	ENST00000373493.5	+	11	1299	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	RBBP4_ENST00000458695.2_Silent_p.F345F|RBBP4_ENST00000373485.1_Silent_p.F380F|RBBP4_ENST00000544435.1_Silent_p.F128F|RBBP4_ENST00000414241.3_Silent_p.F379F	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	380					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)	p.F380F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TATCTGATTTCTCCTGGAATC	0.373																																						uc001bvr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1138-1140)TTC>TTT		retinoblastoma binding protein 4 isoform a							94.0	93.0	94.0					1																	33138430		2203	4300	6503	SO:0001819	synonymous_variant	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33138430C>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.1140C>T	1.37:g.33138430C>T						RBBP4_uc001bvs.2_Silent_p.F379F|RBBP4_uc010ohj.1_Silent_p.F128F|RBBP4_uc010ohk.1_Silent_p.F345F	p.F380F	NM_005610	NP_005601	Q09028	RBBP4_HUMAN			11	1299	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	380			WD 6.		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	c.1140C>T	CCDS366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.808|9.808	1.182360|1.182360	0.21870|0.21870	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000475321|ENST00000463378	.|.	.|.	.|.	4.84|4.84	1.92|1.92	0.25849|0.25849	.|.	.|.	.|.	.|.	.|.	T|T	0.57607|0.57607	0.2065|0.2065	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49643|0.49643	-0.8918|-0.8918	4|4	.|.	.|.	.|.	.|.	9.0865|9.0865	0.36584|0.36584	0.0:0.7599:0.0:0.2401|0.0:0.7599:0.0:0.2401	.|.	.|.	.|.	.|.	F|F	183|140	.|.	.|.	L|S	+|+	1|2	0|0	RBBP4|RBBP4	32911017|32911017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.907000|0.907000	0.28531|0.28531	0.196000|0.196000	0.20367|0.20367	0.591000|0.591000	0.81541|0.81541	CTC|TCT		0.373	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3		NM_005610		16	96	0	0	0	0.00499	0	16	96		
C1orf216	127703	broad.mit.edu	37	1	36181308	36181308	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:36181308G>A	ENST00000270815.4	-	2	1385	c.615C>T	c.(613-615)atC>atT	p.I205I	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	205								p.I205I(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGTTGTCTAGGATGGTGTCGA	0.607											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(613-615)ATC>ATT		hypothetical protein LOC127703							113.0	114.0	114.0					1																	36181308		2203	4300	6503	SO:0001819	synonymous_variant	127703							g.chr1:36181308G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.615C>T	1.37:g.36181308G>A			OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.I205I	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN			2	1103	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	205					D3DPS1|Q8N8N6	Silent	SNP	ENST00000270815.4	37	c.615C>T	CCDS395.1																																																																																				0.607	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3		NM_152374		22	108	0	0	0	0.00333	0	22	108		
GRIK3	2899	broad.mit.edu	37	1	37499707	37499707	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:37499707C>T	ENST00000373091.3	-	1	19	c.3G>A	c.(1-3)atG>atA	p.M1I	GRIK3_ENST00000373093.4_Start_Codon_SNP_p.M1I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	1					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.M1I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGGGAGCGGTCATCGTTGGGC	0.771																																						uc001caz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1-3)ATG>ATA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						7.0	9.0	8.0					1																	37499707		2106	4154	6260	SO:0001582	initiator_codon_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37499707C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.3G>A	1.37:g.37499707C>T	ENSP00000362183:p.Met1Ile					GRIK3_uc001cba.1_Missense_Mutation_p.M1I	p.M1I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			1	138	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	1					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.3G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729183	0.48833	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.10573	2.91;2.86	3.71	3.71	0.42584	.	0.000000	0.47093	D	0.000244	T	0.17662	0.0424	.	.	.	0.80722	D	1	B;B	0.30211	0.273;0.273	B;B	0.42214	0.38;0.38	T	0.04870	-1.0921	9	0.59425	D	0.04	.	12.2172	0.54412	0.0:1.0:0.0:0.0	.	1;1	A9Z1Z8;Q13003	.;GRIK3_HUMAN	I	1	ENSP00000362183:M1I;ENSP00000362185:M1I	ENSP00000362183:M1I	M	-	3	0	GRIK3	37272294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.885000	0.63142	1.631000	0.50456	0.400000	0.26472	ATG		0.771	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831	Missense_Mutation	3	3	0	0	0	0.004672	0	3	3		
ZC3H12A	80149	broad.mit.edu	37	1	37947425	37947425	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:37947425C>T	ENST00000373087.6	+	4	923	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A									p.F269F(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTACTCCTTCGTCAATGACA	0.612																																						uc001cbb.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(805-807)TTC>TTT		zinc finger CCCH-type containing 12A							83.0	75.0	78.0					1																	37947425		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37947425C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.807C>T	1.37:g.37947425C>T						ZC3H12A_uc001cbc.1_5'UTR	p.F269F	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			4	957	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	269						Silent	SNP	ENST00000373087.6	37	c.807C>T	CCDS417.1																																																																																				0.612	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2		NM_025079		13	21	0	0	0	0.001855	0	13	21		
EPHA10	284656	broad.mit.edu	37	1	38197174	38197174	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:38197174G>A	ENST00000373048.4	-	7	1571	c.1572C>T	c.(1570-1572)cgC>cgT	p.R524R	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.R524R|EPHA10_ENST00000540011.1_Silent_p.R19R|EPHA10_ENST00000330210.7_Silent_p.R19R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	524	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R525R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAGACGTAGCGGGTAGCCG	0.587																																						uc009vvi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(4)|stomach(3)|lung(1)	8						c.(1570-1572)CGC>CGT		EPH receptor A10 isofom 3							101.0	103.0	102.0					1																	38197174		1913	4123	6036	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197174G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1572C>T	1.37:g.38197174G>A						EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.R524R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			7	1658	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	524			Fibronectin type-III 2.|Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1572C>T	CCDS41305.1																																																																																				0.587	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641		40	72	0	0	0	0.01441	0	40	72		
MACF1	23499	broad.mit.edu	37	1	39797480	39797480	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39797480G>C	ENST00000372915.3	+	36	5322	c.5235G>C	c.(5233-5235)ttG>ttC	p.L1745F	MACF1_ENST00000289893.4_Missense_Mutation_p.L180F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.L1740F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L1777F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1745					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L180F(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTGAGCTTGAAATCAGGCC	0.488																																						uc010oiu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(538-540)TTG>TTC		microfilament and actin filament cross-linker							69.0	64.0	66.0					1																	39797480		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797480G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5235G>C	1.37:g.39797480G>C	ENSP00000362006:p.Leu1745Phe					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.L180F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	671	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1745					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.540G>C		.	.	.	.	.	.	.	.	.	.	G	10.65	1.410560	0.25465	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69926	-0.44;-0.44	5.66	3.77	0.43336	.	0.265527	0.26812	N	0.022375	T	0.76183	0.3952	M	0.72353	2.195	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.74850	-0.3524	10	0.72032	D	0.01	.	5.0265	0.14387	0.0699:0.1296:0.5328:0.2677	.	1745	Q9UPN3	MACF1_HUMAN	F	1745;180	ENSP00000362006:L1745F;ENSP00000289893:L180F	ENSP00000289893:L180F	L	+	3	2	MACF1	39570067	0.986000	0.35501	1.000000	0.80357	0.992000	0.81027	0.320000	0.19540	0.733000	0.32492	0.650000	0.86243	TTG		0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		10	165	0	0	0	0.006214	0	10	165		
MACF1	23499	broad.mit.edu	37	1	39799895	39799895	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39799895G>T	ENST00000372915.3	+	36	7737	c.7650G>T	c.(7648-7650)caG>caT	p.Q2550H	MACF1_ENST00000289893.4_Missense_Mutation_p.Q985H|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.Q2545H|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2582H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2550					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q985H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATCCATCAGATTTTTAATC	0.378																																						uc010oiu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2953-2955)CAG>CAT		microfilament and actin filament cross-linker							50.0	55.0	53.0					1																	39799895		2202	4300	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799895G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7650G>T	1.37:g.39799895G>T	ENSP00000362006:p.Gln2550His					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q985H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3086	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2550					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2955G>T		.	.	.	.	.	.	.	.	.	.	G	3.894	-0.023432	0.07634	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.68025	-0.3;-0.3	5.57	1.41	0.22369	.	0.134719	0.38111	N	0.001820	T	0.53786	0.1818	L	0.51422	1.61	0.21967	N	0.999448	B	0.12630	0.006	B	0.09377	0.004	T	0.45600	-0.9250	10	0.45353	T	0.12	.	5.8349	0.18601	0.3308:0.2268:0.4424:0.0	.	2550	Q9UPN3	MACF1_HUMAN	H	2550;985	ENSP00000362006:Q2550H;ENSP00000289893:Q985H	ENSP00000289893:Q985H	Q	+	3	2	MACF1	39572482	0.086000	0.21541	0.992000	0.48379	0.082000	0.17680	-0.190000	0.09615	0.260000	0.21731	0.561000	0.74099	CAG		0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		26	248	1	0	7.38237e-10	0.00632	7.64262e-10	26	248		
MACF1	23499	broad.mit.edu	37	1	39800966	39800966	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39800966G>C	ENST00000372915.3	+	36	8808	c.8721G>C	c.(8719-8721)atG>atC	p.M2907I	MACF1_ENST00000289893.4_Missense_Mutation_p.M1342I|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.M2902I|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.M2939I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2907					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.M1342I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATAACATGGGAAATGATA	0.338																																						uc010oiu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4024-4026)ATG>ATC		microfilament and actin filament cross-linker							53.0	59.0	57.0					1																	39800966		2203	4299	6502	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800966G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8721G>C	1.37:g.39800966G>C	ENSP00000362006:p.Met2907Ile					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.M1342I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4157	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2907					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4026G>C		.	.	.	.	.	.	.	.	.	.	G	6.702	0.498164	0.12762	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.63744	-0.06;0.88	5.2	2.19	0.27852	.	1.637940	0.03229	N	0.178716	T	0.47857	0.1468	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38045	-0.9679	10	0.56958	D	0.05	.	4.7939	0.13263	0.2115:0.2304:0.5581:0.0	.	2907	Q9UPN3	MACF1_HUMAN	I	2907;1342	ENSP00000362006:M2907I;ENSP00000289893:M1342I	ENSP00000289893:M1342I	M	+	3	0	MACF1	39573553	0.042000	0.20092	0.003000	0.11579	0.037000	0.13140	1.572000	0.36461	0.587000	0.29643	0.467000	0.42956	ATG		0.338	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		20	214	0	0	0	0.008871	0	20	214		
KIAA0754	643314	broad.mit.edu	37	1	39876601	39876601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:39876601C>T	ENST00000530275.1	+	1	451	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	86	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTAGATTTCAGCAGCACAG	0.433											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1		NaN																	0					0						c.(664-666)CAG>TAG		hypothetical protein LOC643314							69.0	70.0	70.0					1																	39876601		1906	4128	6034	SO:0001587	stop_gained	643314							g.chr1:39876601C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.256C>T	1.37:g.39876601C>T	ENSP00000431179:p.Gln86*		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.Q222*	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1426	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	86			13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.		E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	ENST00000530275.1	37	c.664C>T		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414602	0.62511	.	.	ENSG00000255103	ENST00000530275	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2354	0.43280	0.1511:0.7029:0.146:0.0	.	.	.	.	X	86	.	ENSP00000431179:Q86X	Q	+	1	0	RP4-562N20.1	39649188	0.996000	0.38824	0.998000	0.56505	0.462000	0.32619	1.815000	0.38981	2.206000	0.71126	0.555000	0.69702	CAG		0.433	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		31	144	0	0	0	0.010818	0	31	144		
CCDC30	728621	broad.mit.edu	37	1	43042700	43042700	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:43042700G>A	ENST00000340612.4	+	6	865	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	CCDC30_ENST00000428554.2_Missense_Mutation_p.E289K|CCDC30_ENST00000507855.1_Missense_Mutation_p.E78K|CCDC30_ENST00000390640.4_Missense_Mutation_p.E78K|CCDC30_ENST00000342022.4_Missense_Mutation_p.E289K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	289						extracellular vesicular exosome (GO:0070062)		p.E289K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GATAAAGATTGAACTAAAGCA	0.388																																						uc009vwk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(865-867)GAA>AAA		coiled-coil domain containing 30							63.0	59.0	60.0					1																	43042700		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43042700G>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.865G>A	1.37:g.43042700G>A	ENSP00000340378:p.Glu289Lys					CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Missense_Mutation_p.E78K|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E103K	p.E289K	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			7	975	+			289			Potential.		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.865G>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756896	0.69648	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.67171	0.25;-0.25;0.25;0.25;-0.25	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	M	0.66939	2.045	0.40239	D	0.977936	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.982	T	0.82538	-0.0407	10	0.72032	D	0.01	.	17.446	0.87579	0.0:0.0:1.0:0.0	.	289;73;78	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	K	289;78;289;289;78	ENSP00000397035:E289K;ENSP00000426711:E78K;ENSP00000340378:E289K;ENSP00000339280:E289K;ENSP00000375051:E78K	ENSP00000340378:E289K	E	+	1	0	CCDC30	42815287	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	4.947000	0.63583	2.725000	0.93324	0.655000	0.94253	GAA		0.388	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3		NM_025030		13	53	0	0	0	0.001855	0	13	53		
IPO13	9670	broad.mit.edu	37	1	44424218	44424218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:44424218C>G	ENST00000372343.3	+	10	2497	c.1835C>G	c.(1834-1836)tCg>tGg	p.S612W		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	612					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S612W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AACCTGCACTCGCTTATCTCA	0.562																																						uc001ckx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1834-1836)TCG>TGG		importin 13							65.0	67.0	66.0					1																	44424218		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44424218C>G	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1835C>G	1.37:g.44424218C>G	ENSP00000361418:p.Ser612Trp						p.S612W	NM_014652	NP_055467	O94829	IPO13_HUMAN			10	2630	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	612			HEAT 10.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1835C>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820080	0.90873	.	.	ENSG00000117408	ENST00000372343	T	0.68331	-0.32	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.78671	-0.2113	10	0.66056	D	0.02	-11.7837	20.0817	0.97778	0.0:1.0:0.0:0.0	.	612	O94829	IPO13_HUMAN	W	612	ENSP00000361418:S612W	ENSP00000361418:S612W	S	+	2	0	IPO13	44196805	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	7.716000	0.84723	2.743000	0.94032	0.650000	0.86243	TCG		0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		14	186	0	0	0	0.003163	0	14	186		
ERI3	79033	broad.mit.edu	37	1	44785309	44785309	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:44785309G>C	ENST00000372257.2	-	4	778	c.597C>G	c.(595-597)ttC>ttG	p.F199L	ERI3_ENST00000372259.5_Missense_Mutation_p.F84L|ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Missense_Mutation_p.F22L	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	199	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F199L(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCTGTACAGAATGGGGTAA	0.512																																						uc001clt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(595-597)TTC>TTG		prion protein interacting protein							103.0	105.0	104.0					1																	44785309		2203	4300	6503	SO:0001583	missense	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44785309G>C	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.597C>G	1.37:g.44785309G>C	ENSP00000361331:p.Phe199Leu					ERI3_uc010okv.1_Missense_Mutation_p.F22L|ERI3_uc009vxg.2_Missense_Mutation_p.F199L|ERI3_uc010okw.1_Missense_Mutation_p.F121L|ERI3_uc001clu.2_Missense_Mutation_p.F121L	p.F199L	NM_024066	NP_076971	O43414	ERI3_HUMAN			4	838	-			199			Exonuclease.		B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	c.597C>G	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434816	0.83885	.	.	ENSG00000117419	ENST00000372257;ENST00000372259;ENST00000456170;ENST00000537474;ENST00000433471;ENST00000372253;ENST00000452396;ENST00000457571	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.96	5.05	0.67936	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.128571	0.53938	D	0.000046	T	0.54447	0.1859	M	0.94063	3.49	0.50813	D	0.99989	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.72338	0.977;0.975;0.975	T	0.65500	-0.6153	10	0.87932	D	0	.	11.2662	0.49112	0.1387:0.0:0.8613:0.0	.	197;121;199	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	L	199;84;38;22;81;65;81;197	ENSP00000361331:F199L;ENSP00000361333:F84L;ENSP00000390710:F38L;ENSP00000438360:F22L;ENSP00000396764:F81L;ENSP00000412291:F197L	ENSP00000361327:F65L	F	-	3	2	ERI3	44557896	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.991000	0.49409	1.538000	0.49270	-0.140000	0.14226	TTC		0.512	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1		NM_024066		25	169	0	0	0	0.00632	0	25	169		
PLK3	1263	broad.mit.edu	37	1	45269324	45269324	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:45269324C>T	ENST00000372201.4	+	9	1364	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	375					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.L336L(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGAGCGGCCTCATGCGCACAT	0.617																																						uc001cmn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1123-1125)CTC>CTT		polo-like kinase 3							83.0	64.0	71.0					1																	45269324		2203	4300	6503	SO:0001819	synonymous_variant	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45269324C>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1125C>T	1.37:g.45269324C>T						PLK3_uc001cmo.2_RNA	p.L375L	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			9	1225	+	Acute lymphoblastic leukemia(166;0.155)		375					Q15767|Q5JR99|Q96CV1	Silent	SNP	ENST00000372201.4	37	c.1125C>T	CCDS515.1																																																																																				0.617	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1		NM_004073		7	22	0	0	0	0.00308	0	7	22		
ZSWIM5	57643	broad.mit.edu	37	1	45484612	45484612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:45484612C>G	ENST00000359600.5	-	14	3277	c.3072G>C	c.(3070-3072)atG>atC	p.M1024I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1024						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.M1024I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAAGATGGCTCATGGCCAATG	0.567											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cnd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3070-3072)ATG>ATC		zinc finger, SWIM domain containing 5							55.0	54.0	54.0					1																	45484612		2075	4216	6291	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484612C>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3072G>C	1.37:g.45484612C>G	ENSP00000352614:p.Met1024Ile		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.M1024I	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			14	3300	-	Acute lymphoblastic leukemia(166;0.155)		1024					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.3072G>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610336	0.46527	.	.	ENSG00000162415	ENST00000359600	T	0.47177	0.85	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.58810	1.83	0.58432	D	0.999999	B	0.32338	0.365	B	0.32211	0.142	T	0.52457	-0.8573	10	0.51188	T	0.08	-21.6601	18.6023	0.91253	0.0:1.0:0.0:0.0	.	1024	Q9P217	ZSWM5_HUMAN	I	1024	ENSP00000352614:M1024I	ENSP00000352614:M1024I	M	-	3	0	ZSWIM5	45257199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.959000	0.70339	2.558000	0.86282	0.555000	0.69702	ATG		0.567	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2		XM_046581		12	87	0	0	0	0.010729	0	12	87		
AKR1A1	10327	broad.mit.edu	37	1	46034629	46034629	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:46034629C>T	ENST00000372070.3	+	8	1530	c.783C>T	c.(781-783)atC>atT	p.I261I	AKR1A1_ENST00000473038.1_3'UTR|AKR1A1_ENST00000351829.4_Silent_p.I261I	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	261					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)	p.I261I(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TGATCTGCATCCCCAAAAGTA	0.453																																						uc001cod.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(781-783)ATC>ATT		aldo-keto reductase family 1, member A1							165.0	160.0	162.0					1																	46034629		2203	4300	6503	SO:0001819	synonymous_variant	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46034629C>T	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.783C>T	1.37:g.46034629C>T						AKR1A1_uc001coe.2_Silent_p.I261I|AKR1A1_uc001cof.2_Silent_p.I67I|AKR1A1_uc001cog.2_RNA	p.I261I	NM_006066	NP_006057	P14550	AK1A1_HUMAN			8	1247	+	Acute lymphoblastic leukemia(166;0.155)		261			NADP (By similarity).		A8KAL8|D3DQ04|Q6IAZ4	Silent	SNP	ENST00000372070.3	37	c.783C>T	CCDS523.1																																																																																				0.453	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1		NM_006066		155	114	0	0	0	0.01441	0	155	114		
DMBX1	127343	broad.mit.edu	37	1	46976269	46976269	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:46976269T>G	ENST00000360032.3	+	2	290	c.276T>G	c.(274-276)gaT>gaG	p.D92E	DMBX1_ENST00000371956.4_Missense_Mutation_p.D97E	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.D97E(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTACCCAGATGTGGTGATGC	0.597																																						uc001cpx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(289-291)GAT>GAG		diencephalon/mesencephalon homeobox 1 isoform b							83.0	72.0	75.0					1																	46976269		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976269T>G	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.276T>G	1.37:g.46976269T>G	ENSP00000353132:p.Asp92Glu					DMBX1_uc001cpw.2_Missense_Mutation_p.D92E	p.D97E	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN			2	306	+	Acute lymphoblastic leukemia(166;0.155)		97			Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.291T>G	CCDS536.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360112	0.82353	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.96041	-3.89;-3.89	4.81	-7.64	0.01286	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.044787	0.85682	D	0.000000	D	0.97483	0.9176	M	0.93328	3.405	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.74674	0.984;0.973	D	0.97420	1.0008	10	0.87932	D	0	.	15.332	0.74219	0.0:0.255:0.0:0.745	.	97;92	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	E	97;92	ENSP00000361024:D97E;ENSP00000353132:D92E	ENSP00000353132:D92E	D	+	3	2	DMBX1	46748856	0.002000	0.14202	0.742000	0.31022	0.997000	0.91878	-1.432000	0.02430	-1.776000	0.01285	0.402000	0.26972	GAT		0.597	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1				26	35	0	0	0	0.00632	0	26	35		
MYSM1	114803	broad.mit.edu	37	1	59142623	59142623	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:59142623C>T	ENST00000472487.1	-	9	1404	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	455	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L455L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTGCTCCTATCAATTCGAGGT	0.348																																						uc009wab.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1363-1365)TTG>TTA		Myb-like, SWIRM and MPN domains 1							143.0	136.0	138.0					1																	59142623		1844	4091	5935	SO:0001819	synonymous_variant	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59142623C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1365G>A	1.37:g.59142623C>T						MYSM1_uc001czc.2_RNA	p.L455L	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			9	1388	-	all_cancers(7;9.36e-06)		455			SWIRM.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	ENST00000472487.1	37	c.1365G>A	CCDS41343.1																																																																																				0.348	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2		XM_055481		53	110	0	0	0	0.01441	0	53	110		
DOCK7	85440	broad.mit.edu	37	1	63024891	63024891	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:63024891C>T	ENST00000340370.5	-	20	2217	c.2200G>A	c.(2200-2202)Gat>Aat	p.D734N	DOCK7_ENST00000251157.5_Splice_Site_p.D734N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	734					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.D734N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGATAAGGATCCTAAAACAAA	0.363																																						uc001daq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2200-2202)GAT>AAT		dedicator of cytokinesis 7							50.0	47.0	48.0					1																	63024891		2203	4300	6503	SO:0001630	splice_region_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63024891C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2200-1G>A	1.37:g.63024891C>T						DOCK7_uc001dan.2_Missense_Mutation_p.D626N|DOCK7_uc001dao.2_Missense_Mutation_p.D626N|DOCK7_uc001dap.2_Missense_Mutation_p.D734N	p.D734N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			20	2234	-			734			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2200G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142587	0.94560	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.40756	1.02;1.02	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.71823	-0.4476	10	0.87932	D	0	.	18.3364	0.90290	0.0:1.0:0.0:0.0	.	734;734;734;734	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	N	734	ENSP00000251157:D734N;ENSP00000340742:D734N	ENSP00000251157:D734N	D	-	1	0	DOCK7	62797479	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.651000	0.83577	2.552000	0.86080	0.561000	0.74099	GAT		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407	Missense_Mutation	7	34	0	0	0	0.004482	0	7	34		
ANGPTL3	27329	broad.mit.edu	37	1	63066796	63066796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:63066796C>G	ENST00000371129.3	+	3	730	c.650C>G	c.(649-651)tCt>tGt	p.S217C	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	217					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.S217C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATTTCTCTATCTTCCAAGCCA	0.343																																						uc001das.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(649-651)TCT>TGT		angiopoietin-like 3 precursor							92.0	90.0	91.0					1																	63066796		2203	4297	6500	SO:0001583	missense	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63066796C>G	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.650C>G	1.37:g.63066796C>G	ENSP00000360170:p.Ser217Cys					DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	p.S217C	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN			3	701	+			217					A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	c.650C>G	CCDS622.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071625	0.55646	.	.	ENSG00000132855	ENST00000371129	T	0.54866	0.55	5.36	3.44	0.39384	.	0.480369	0.17657	N	0.166459	T	0.26011	0.0634	L	0.27053	0.805	0.27559	N	0.950244	P	0.39903	0.694	B	0.43301	0.415	T	0.06092	-1.0846	10	0.49607	T	0.09	.	11.0086	0.47649	0.3372:0.6628:0.0:0.0	.	217	Q9Y5C1	ANGL3_HUMAN	C	217	ENSP00000360170:S217C	ENSP00000360170:S217C	S	+	2	0	ANGPTL3	62839384	0.986000	0.35501	0.998000	0.56505	0.967000	0.64934	1.942000	0.40243	0.588000	0.29660	0.591000	0.81541	TCT		0.343	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1		NM_014495		22	131	0	0	0	0.012319	0	22	131		
MIER1	57708	broad.mit.edu	37	1	67411832	67411833	+	Splice_Site	DNP	GG	GG	TT			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:67411832_67411833GG>TT	ENST00000355356.3	+	3	183_184	c.34_35GG>TT	c.(34-36)GGa>TTa	p.G12L	MIER1_ENST00000371018.3_Splice_Site_p.G29L|MIER1_ENST00000357692.2_Splice_Site_p.G29L|MIER1_ENST00000401042.3_Splice_Site_p.G12L|MIER1_ENST00000371016.1_Splice_Site_p.G29L|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371012.2_Splice_Site_p.G29L|MIER1_ENST00000401041.1_Splice_Site_p.G65L|MIER1_ENST00000371014.1_Splice_Site_p.G65L|MIER1_ENST00000479067.1_3'UTR	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	12					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.?(4)|p.G12V(1)|p.G65V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTCCTTACCAGGAGGTTCAGCA	0.322																																						uc001dde.2		NaN																	6	Unknown(4)|Substitution - Missense(2)		urinary_tract(6)	ovary(1)	1						c.e4-1		mesoderm induction early response 1 isoform b																																				SO:0001630	splice_region_variant	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67411832_67411833GG>TT		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	Exception_encountered	1.37:g.67411832_67411833delinsTT						MIER1_uc001dda.3_Splice_Site_p.E90_splice|MIER1_uc010opf.1_Splice_Site_p.G29_splice|MIER1_uc009way.2_Splice_Site_p.G29_splice|MIER1_uc001ddc.2_Splice_Site_p.G65_splice|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Splice_Site_p.G29_splice|MIER1_uc001ddg.2_Splice_Site|MIER1_uc010opg.1_Splice_Site_p.G29_splice|MIER1_uc001ddj.1_Splice_Site_p.G12_splice|MIER1_uc001ddi.2_Splice_Site_p.G12_splice	p.G65_splice	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN			4	328	+								C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Splice_Site	DNP	ENST00000355356.3	37	c.194_splice	CCDS41348.1																																																																																				0.322	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2		NM_020948	Missense_Mutation	26	90	0	0	0	0.004672	0	26	90		
ANKRD13C	81573	broad.mit.edu	37	1	70728465	70728465	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:70728465C>T	ENST00000370944.4	-	13	1874	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.D486N	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	521					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.D521N(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATGGAGCCATCAAATTCATCG	0.408																																						uc001dex.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1561-1563)GAT>AAT		ankyrin repeat domain 13C							137.0	136.0	136.0					1																	70728465		2203	4300	6503	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70728465C>T		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1561G>A	1.37:g.70728465C>T	ENSP00000359982:p.Asp521Asn					ANKRD13C_uc009wbk.2_Missense_Mutation_p.D486N	p.D521N	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			13	1887	-			521					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1561G>A	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354414	0.61293	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.44083	0.93;0.93	5.69	5.69	0.88448	.	0.043464	0.85682	D	0.000000	T	0.42200	0.1192	M	0.79693	2.465	0.58432	D	0.999999	B;B	0.24258	0.1;0.018	B;B	0.30029	0.067;0.11	T	0.42732	-0.9434	10	0.59425	D	0.04	0.3653	19.412	0.94677	0.0:1.0:0.0:0.0	.	486;521	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	N	521;486	ENSP00000359982:D521N;ENSP00000262346:D486N	ENSP00000262346:D486N	D	-	1	0	ANKRD13C	70501053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.783000	0.62403	2.687000	0.91594	0.643000	0.83706	GAT		0.408	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1		NM_030816		61	138	0	0	0	0.01441	0	61	138		
FUBP1	8880	broad.mit.edu	37	1	78430866	78430866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:78430866G>A	ENST00000370768.2	-	8	604	c.523C>T	c.(523-525)Cct>Tct	p.P175S	FUBP1_ENST00000370767.1_Missense_Mutation_p.P175S|FUBP1_ENST00000436586.2_Missense_Mutation_p.P196S	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	175					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.P175S(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGGAAGCCAGGAGCTGGTCTT	0.418			"""F, N"""		oligodendroglioma																																	uc001dii.2		NaN		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|lung(1)	3						c.(523-525)CCT>TCT		far upstream element-binding protein							130.0	127.0	128.0					1																	78430866		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430866G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.523C>T	1.37:g.78430866G>A	ENSP00000359804:p.Pro175Ser					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.P196S	p.P175S	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			8	612	-			175					Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.523C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808741	0.70797	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.48836	1.39;1.39;1.36;0.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	M	0.69248	2.105	0.80722	D	1	B;B	0.25390	0.085;0.125	B;B	0.24006	0.04;0.05	T	0.18935	-1.0321	10	0.30078	T	0.28	-11.5393	19.9468	0.97185	0.0:0.0:1.0:0.0	.	196;175	B4DT31;Q96AE4	.;FUBP1_HUMAN	S	174;175;175;174;196;195	ENSP00000359803:P175S;ENSP00000359804:P175S;ENSP00000389536:P196S;ENSP00000402630:P195S	ENSP00000294623:P174S	P	-	1	0	FUBP1	78203454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.866000	0.87056	2.784000	0.95788	0.650000	0.86243	CCT		0.418	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3		NM_003902		30	141	0	0	0	0.009535	0	30	141		
DNASE2B	58511	broad.mit.edu	37	1	84867740	84867740	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:84867740A>G	ENST00000370665.3	+	2	315	c.282A>G	c.(280-282)ctA>ctG	p.L94L		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	94					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.L94L(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TACAACAGCTATATGAAGCAT	0.363																																					Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(280-282)CTA>CTG	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor							81.0	76.0	78.0					1																	84867740		1883	4114	5997	SO:0001819	synonymous_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84867740A>G	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.282A>G	1.37:g.84867740A>G							p.L94L	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	2	315	+			94					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	c.282A>G	CCDS44167.1																																																																																				0.363	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1		NM_021233		6	28	0	0	0	0.001168	0	6	28		
COL24A1	255631	broad.mit.edu	37	1	86426951	86426951	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:86426951A>T	ENST00000370571.2	-	24	2909	c.2543T>A	c.(2542-2544)aTt>aAt	p.I848N	COL24A1_ENST00000436319.1_Missense_Mutation_p.I848N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	848	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.I848N(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATTTTTCCAATATTTCCTTG	0.289																																						uc001dlj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2542-2544)ATT>AAT		collagen, type XXIV, alpha 1 precursor							99.0	96.0	97.0					1																	86426951		1797	4057	5854	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86426951A>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2543T>A	1.37:g.86426951A>T	ENSP00000359603:p.Ile848Asn					COL24A1_uc001dli.2_Translation_Start_Site|COL24A1_uc010osd.1_Missense_Mutation_p.I148N|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.I848N	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	24	2585	-			848	GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).		Collagen-like 5.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.2543T>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.590148	0.28357	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93189	-3.18;-3.18	4.74	2.42	0.29668	.	.	.	.	.	D	0.87346	0.6154	L	0.39514	1.22	0.43652	D	0.996067	P	0.45531	0.86	P	0.54026	0.74	T	0.82398	-0.0477	9	0.17832	T	0.49	.	7.6187	0.28173	0.8196:0.0:0.1804:0.0	.	848	Q17RW2	COOA1_HUMAN	N	848	ENSP00000359603:I848N;ENSP00000392531:I848N	ENSP00000359603:I848N	I	-	2	0	COL24A1	86199539	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.298000	0.33412	0.285000	0.22329	0.533000	0.62120	ATT		0.289	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890		15	96	0	0	0	0.003163	0	15	96		
ZNF644	84146	broad.mit.edu	37	1	91406420	91406420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:91406420G>A	ENST00000370440.1	-	3	708	c.491C>T	c.(490-492)tCt>tTt	p.S164F	ZNF644_ENST00000337393.5_Missense_Mutation_p.S164F|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S164F(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGGTGTAGACAGCTGAAG	0.403																																						uc001dnw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|skin(1)	3						c.(490-492)TCT>TTT		zinc finger protein 644 isoform 1							93.0	93.0	93.0					1																	91406420		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406420G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.491C>T	1.37:g.91406420G>A	ENSP00000359469:p.Ser164Phe					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.S164F	p.S164F	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	633	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	164					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.491C>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578753	0.46006	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00644	6.01;6.01	5.77	5.77	0.91146	.	0.081763	0.52532	D	0.000080	T	0.00440	0.0014	L	0.27053	0.805	0.41825	D	0.990046	P	0.38642	0.641	B	0.35413	0.202	T	0.80214	-0.1475	10	0.72032	D	0.01	-12.6921	19.9855	0.97347	0.0:0.0:1.0:0.0	.	164	Q9H582	ZN644_HUMAN	F	164	ENSP00000359469:S164F;ENSP00000337008:S164F	ENSP00000337008:S164F	S	-	2	0	ZNF644	91179008	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.510000	0.60455	2.715000	0.92844	0.655000	0.94253	TCT		0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2		NM_032186		29	150	0	0	0	0.005443	0	29	150		
MTF2	22823	broad.mit.edu	37	1	93580289	93580289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:93580289G>C	ENST00000370298.4	+	4	620	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	MTF2_ENST00000540243.1_Missense_Mutation_p.E9Q|MTF2_ENST00000545708.1_Missense_Mutation_p.E9Q|MTF2_ENST00000370303.4_Missense_Mutation_p.E111Q|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	111					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E111Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		ATGTCAAGAAGAGTATTCAGA	0.328																																						uc009wdj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(331-333)GAG>CAG		metal response element binding transcription							97.0	99.0	98.0					1																	93580289		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93580289G>C	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.331G>C	1.37:g.93580289G>C	ENSP00000359321:p.Glu111Gln					MTF2_uc001dph.2_Missense_Mutation_p.E9Q|MTF2_uc010oth.1_Missense_Mutation_p.E9Q|MTF2_uc009wdk.2_Missense_Mutation_p.E111Q|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Missense_Mutation_p.E9Q|MTF2_uc001dpj.3_Missense_Mutation_p.E9Q|MTF2_uc001dpl.3_Missense_Mutation_p.E9Q	p.E111Q	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	4	623	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	111			PHD-type 1.		A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.331G>C	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002671	0.74932	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.24	5.24	0.73138	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	L	0.46157	1.445	0.80722	D	1	P;P	0.37548	0.599;0.599	B;P	0.45167	0.374;0.472	T	0.80705	-0.1263	10	0.19147	T	0.46	-4.9437	18.419	0.90582	0.0:0.0:1.0:0.0	.	111;111	B1AKT6;Q9Y483	.;MTF2_HUMAN	Q	9;9;111;9;111	ENSP00000444962:E9Q;ENSP00000443295:E9Q;ENSP00000359321:E111Q;ENSP00000359326:E111Q	ENSP00000359321:E111Q	E	+	1	0	MTF2	93352877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.373000	0.66162	2.446000	0.82766	0.563000	0.77884	GAG		0.328	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3		NM_007358		10	55	0	0	0	0.013537	0	10	55		
CNN3	1266	broad.mit.edu	37	1	95363303	95363303	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:95363303A>C	ENST00000370206.4	-	7	1368	c.985T>G	c.(985-987)Tat>Gat	p.Y329D	CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000394202.4_Missense_Mutation_p.Y283D|CNN3_ENST00000545882.1_Missense_Mutation_p.Y288D|CNN3_ENST00000538964.1_Missense_Mutation_p.Y329D	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	329	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)		p.Y329D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TGGATCTAATAATCAATGCCT	0.398																																						uc010otw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(985-987)TAT>GAT		calponin 3							156.0	144.0	148.0					1																	95363303		2203	4300	6503	SO:0001583	missense	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95363303A>C	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.985T>G	1.37:g.95363303A>C	ENSP00000359225:p.Tyr329Asp					CNN3_uc010otv.1_Missense_Mutation_p.Y288D|CNN3_uc001dqz.3_Missense_Mutation_p.Y329D|CNN3_uc010otx.1_Missense_Mutation_p.Y283D	p.Y329D	NM_001839	NP_001830	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	8	1067	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	329			Asp/Glu-rich (acidic).		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	c.985T>G	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411015	0.62399	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882	T;T;T;T	0.38722	1.24;1.24;1.12;1.24	6.04	4.88	0.63580	.	0.057983	0.64402	D	0.000001	T	0.33904	0.0879	L	0.27053	0.805	0.47407	D	0.999411	D;D	0.60160	0.987;0.978	P;P	0.55391	0.775;0.601	T	0.28490	-1.0042	10	0.87932	D	0	.	13.5205	0.61566	0.8703:0.1297:0.0:0.0	.	283;329	F8WA86;Q15417	.;CNN3_HUMAN	D	329;329;283;288	ENSP00000359225:Y329D;ENSP00000437665:Y329D;ENSP00000377752:Y283D;ENSP00000440081:Y288D	ENSP00000359225:Y329D	Y	-	1	0	CNN3	95135891	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	5.549000	0.67261	2.317000	0.78254	0.460000	0.39030	TAT		0.398	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2		NM_001839		33	154	0	0	0	0.013726	0	33	154		
CNN3	1266	broad.mit.edu	37	1	95363318	95363318	+	Missense_Mutation	SNP	C	C	T	rs536217522		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:95363318C>T	ENST00000370206.4	-	7	1353	c.970G>A	c.(970-972)Gac>Aac	p.D324N	CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000394202.4_Missense_Mutation_p.D278N|CNN3_ENST00000545882.1_Missense_Mutation_p.D283N|CNN3_ENST00000538964.1_Missense_Mutation_p.D324N	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	324	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)		p.D324N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATGCCTTGGTCGCTATATTGG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		15058	0.0		0.0	False		,,,				2504	0.001					uc010otw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(970-972)GAC>AAC		calponin 3							189.0	171.0	177.0					1																	95363318		2203	4300	6503	SO:0001583	missense	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95363318C>T	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.970G>A	1.37:g.95363318C>T	ENSP00000359225:p.Asp324Asn					CNN3_uc010otv.1_Missense_Mutation_p.D283N|CNN3_uc001dqz.3_Missense_Mutation_p.D324N|CNN3_uc010otx.1_Missense_Mutation_p.D278N	p.D324N	NM_001839	NP_001830	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	8	1052	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	324			Asp/Glu-rich (acidic).		B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	c.970G>A	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578047	0.86645	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882	T;T;T;T	0.37235	1.28;1.28;1.21;1.29	6.04	6.04	0.98038	.	0.135620	0.64402	D	0.000004	T	0.42517	0.1206	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.43540	-0.9385	10	0.87932	D	0	-22.9185	20.5948	0.99439	0.0:1.0:0.0:0.0	.	278;324	F8WA86;Q15417	.;CNN3_HUMAN	N	324;324;278;283	ENSP00000359225:D324N;ENSP00000437665:D324N;ENSP00000377752:D278N;ENSP00000440081:D283N	ENSP00000359225:D324N	D	-	1	0	CNN3	95135906	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	4.454000	0.60068	2.873000	0.98535	0.563000	0.77884	GAC		0.398	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2		NM_001839		39	175	0	0	0	0.006999	0	39	175		
PLPPR5	163404	broad.mit.edu	37	1	99387500	99387500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:99387500G>A	ENST00000263177.4	-	4	957	c.736C>T	c.(736-738)Cga>Tga	p.R246*	LPPR5_ENST00000370188.3_Nonsense_Mutation_p.R246*	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		246						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R246*(1)									CAATGATTTCGATATTCTGCT	0.368																																						uc001dsb.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(736-738)CGA>TGA		phosphatidic acid phosphatase type 2d isoform 1							148.0	144.0	145.0					1																	99387500		2203	4300	6503	SO:0001587	stop_gained	163404					integral to membrane	hydrolase activity	g.chr1:99387500G>A																												ENST00000263177.4:c.736C>T	1.37:g.99387500G>A	ENSP00000263177:p.Arg246*					LPPR5_uc001dsc.2_Nonsense_Mutation_p.R246*	p.R246*	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			4	958	-			246					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonsense_Mutation	SNP	ENST00000263177.4	37	c.736C>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	39	7.311117	0.98203	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	5.4	4.47	0.54385	.	0.134093	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7082	0.69208	0.0:0.0:0.8544:0.1456	.	.	.	.	X	246	.	ENSP00000263177:R246X	R	-	1	2	AL161744.1	99160088	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.609000	0.82925	1.244000	0.43870	0.460000	0.39030	CGA		0.368	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1				35	116	0	0	0	0.004878	0	35	116		
FRRS1	391059	broad.mit.edu	37	1	100212977	100212977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:100212977G>A	ENST00000414213.1	-	4	807	c.206C>T	c.(205-207)tCa>tTa	p.S69L	FRRS1_ENST00000287474.5_Missense_Mutation_p.S69L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	69	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.S69L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGGATGCCCTGACAAAGTAAC	0.378																																						uc001dsh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(205-207)TCA>TTA		stromal cell derived factor receptor 2 homolog							106.0	108.0	107.0					1																	100212977		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100212977G>A	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.206C>T	1.37:g.100212977G>A	ENSP00000393884:p.Ser69Leu						p.S69L	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	4	808	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	69			Reelin.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.206C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.089912	0.76756	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.82	4.91	0.64330	.	0.075074	0.53938	D	0.000046	T	0.61702	0.2368	M	0.90705	3.14	0.58432	D	0.999996	B	0.27192	0.171	B	0.28916	0.096	T	0.67296	-0.5706	9	0.45353	T	0.12	-15.1652	10.1356	0.42704	0.1438:0.0:0.8562:0.0	.	69	Q6ZNA5-2	.	L	69	.	ENSP00000287474:S69L	S	-	2	0	FRRS1	99985565	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.226000	0.58606	2.759000	0.94783	0.557000	0.71058	TCA		0.378	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001013660		29	115	0	0	0	0.008361	0	29	115		
FNDC7	163479	broad.mit.edu	37	1	109276098	109276098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:109276098C>T	ENST00000370017.3	+	10	2361	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Missense_Mutation_p.S696L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	695	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.S462L(1)|p.S695L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGATGGTCTCACCAGTTGCT	0.423																																						uc001dvx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(2083-2085)TCA>TTA		fibronectin type III domain containing 7							106.0	101.0	103.0					1																	109276098		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109276098C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2084C>T	1.37:g.109276098C>T	ENSP00000359034:p.Ser695Leu					FNDC7_uc010ova.1_Missense_Mutation_p.S462L	p.S695L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2084	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	696			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.2084C>T	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999830	0.93227	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	D;D	0.97959	-4.63;-4.63	5.84	5.84	0.93424	Fibronectin, type III (1);	0.058259	0.64402	D	0.000001	D	0.94231	0.8148	L	0.27053	0.805	0.58432	D	0.999993	P;D	0.53885	0.775;0.963	B;P	0.47603	0.256;0.551	D	0.93172	0.6567	10	0.12103	T	0.63	-12.0683	20.1377	0.98035	0.0:1.0:0.0:0.0	.	696;695	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	L	695;696	ENSP00000359034:S695L;ENSP00000271311:S696L	ENSP00000271311:S696L	S	+	2	0	FNDC7	109077621	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.464000	0.66719	2.766000	0.95052	0.609000	0.83330	TCA		0.423	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4		NM_173532		23	94	0	0	0	0.012319	0	23	94		
CSF1	1435	broad.mit.edu	37	1	110466437	110466437	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:110466437G>A	ENST00000329608.6	+	6	1585	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369802.3_Silent_p.P398P|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	398					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.P398P(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACCCCCCGGAGCCAGGCT	0.667																																						uc001dyu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1192-1194)CCG>CCA		colony stimulating factor 1 isoform a precursor							42.0	49.0	46.0					1																	110466437		2203	4300	6503	SO:0001819	synonymous_variant	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466437G>A	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1194G>A	1.37:g.110466437G>A						CSF1_uc001dyt.2_Intron|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Silent_p.P398P	p.P398P	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1607	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	398			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	c.1194G>A	CCDS816.1																																																																																				0.667	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1		NM_000757		9	44	0	0	0	0.010729	0	9	44		
RBM15	64783	broad.mit.edu	37	1	110884629	110884629	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:110884629G>A	ENST00000369784.3	+	1	3502	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	RBM15_ENST00000602849.1_Missense_Mutation_p.D868N|RBM15_ENST00000487146.2_Missense_Mutation_p.D868N|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	868	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D868N(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGAAGTTCTGACAGCCGGTC	0.512			T	MKL1	acute megakaryocytic leukemia																																	uc001dzl.1		NaN		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2602-2604)GAC>AAC		RNA binding motif protein 15							90.0	94.0	92.0					1																	110884629		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884629G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2602G>A	1.37:g.110884629G>A	ENSP00000358799:p.Asp868Asn					RBM15_uc001dzm.1_Missense_Mutation_p.D868N|uc001dzj.2_5'Flank	p.D868N	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2685	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	868			SPOC.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.2602G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012347	0.75046	.	.	ENSG00000162775	ENST00000369784	T	0.20332	2.08	5.4	5.4	0.78164	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	0.273577	0.25692	N	0.028923	T	0.20495	0.0493	L	0.53561	1.675	0.51233	D	0.999916	P;B	0.50819	0.939;0.155	P;B	0.47206	0.541;0.126	T	0.00832	-1.1548	10	0.40728	T	0.16	-6.8722	19.1406	0.93445	0.0:0.0:1.0:0.0	.	868;868	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	868	ENSP00000358799:D868N	ENSP00000358799:D868N	D	+	1	0	RBM15	110686152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.193000	0.94954	2.531000	0.85337	0.655000	0.94253	GAC		0.512	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768		13	67	0	0	0	0.00245	0	13	67		
DENND2D	79961	broad.mit.edu	37	1	111730906	111730906	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:111730906G>A	ENST00000357640.4	-	11	1415	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	DENND2D_ENST00000369752.5_Missense_Mutation_p.R393W	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	396	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R396W(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTTGCCTCCCGCTTGATATAG	0.473																																						uc001eak.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1186-1188)CGG>TGG		DENN/MADD domain containing 2D							85.0	88.0	87.0					1																	111730906		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111730906G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1186C>T	1.37:g.111730906G>A	ENSP00000350266:p.Arg396Trp					DENND2D_uc001eal.1_Missense_Mutation_p.R393W	p.R396W	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1386	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	396			dDENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1186C>T	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057100	0.36277	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.45276	0.9;0.9	5.75	1.68	0.24146	dDENN (3);	0.000000	0.53938	D	0.000043	T	0.05868	0.0153	N	0.03115	-0.41	0.20196	N	0.999928	B;B	0.15141	0.01;0.012	B;B	0.15052	0.004;0.012	T	0.32134	-0.9918	10	0.38643	T	0.18	-10.1849	4.6673	0.12671	0.3091:0.0:0.5437:0.1472	.	393;396	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	W	396;393	ENSP00000350266:R396W;ENSP00000358767:R393W	ENSP00000350266:R396W	R	-	1	2	DENND2D	111532429	0.003000	0.15002	0.992000	0.48379	0.998000	0.95712	0.043000	0.13971	0.425000	0.26087	0.650000	0.86243	CGG		0.473	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1		NM_024901		26	114	0	0	0	0.004656	0	26	114		
WDR77	79084	broad.mit.edu	37	1	111983905	111983905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:111983905C>T	ENST00000235090.5	-	10	1182	c.976G>A	c.(976-978)Gtt>Att	p.V326I	RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Missense_Mutation_p.V262I|WDR77_ENST00000497278.1_5'Flank	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	326				LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411). {ECO:0000305}.	gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.V326I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCACAACGTGGTGGACG	0.537																																						uc001ebb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(976-978)GTT>ATT		WD repeat domain 77							121.0	115.0	117.0					1																	111983905		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111983905C>T	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.976G>A	1.37:g.111983905C>T	ENSP00000235090:p.Val326Ile					WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.V262I	p.V326I	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	10	1015	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	326	LTTVGWDHQVVHHVVPTEPLPAPGPASVTE -> DLQVLLS RLDLRQKASPP (in Ref. 7; AAH09411).				B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.976G>A	CCDS835.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863856	0.32884	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.66638	0.12;-0.22	5.91	-4.21	0.03812	WD40 repeat-like-containing domain (1);	0.612782	0.18736	N	0.132581	T	0.18341	0.0440	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.17349	-1.0372	10	0.29301	T	0.29	-0.1646	8.4547	0.32893	0.0:0.3307:0.4252:0.2442	.	262;326	B4DP38;Q9BQA1	.;MEP50_HUMAN	I	326;262	ENSP00000235090:V326I;ENSP00000400321:V262I	ENSP00000235090:V326I	V	-	1	0	WDR77	111785428	0.011000	0.17503	0.001000	0.08648	0.914000	0.54420	-0.370000	0.07523	-1.534000	0.01743	-0.254000	0.11334	GTT		0.537	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1		NM_024102		22	55	0	0	0	0.010504	0	22	55		
MOV10	4343	broad.mit.edu	37	1	113217604	113217604	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113217604C>T	ENST00000413052.2	+	2	460	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	MOV10_ENST00000357443.2_Missense_Mutation_p.R24W|MOV10_ENST00000369645.1_Missense_Mutation_p.R24W|MOV10_ENST00000544796.1_Missense_Mutation_p.R24W|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	24					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R24W(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCTGGTCGTTCGGGGACTGGA	0.667																																						uc001eck.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(70-72)CGG>TGG		Mov10, Moloney leukemia virus 10, homolog							53.0	62.0	59.0					1																	113217604		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113217604C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.70C>T	1.37:g.113217604C>T	ENSP00000399797:p.Arg24Trp					MOV10_uc001ecl.2_Missense_Mutation_p.R24W|MOV10_uc001ecn.2_Missense_Mutation_p.R24W|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	p.R24W	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	2	340	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	24					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.70C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928873	0.73327	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443	D;D;D	0.92249	-3.0;-3.0;-3.0	4.56	1.56	0.23342	.	0.407307	0.22753	N	0.056041	D	0.82834	0.5123	N	0.24115	0.695	0.09310	N	1	D;D	0.89917	0.987;1.0	P;P	0.58577	0.525;0.841	T	0.76342	-0.2994	10	0.72032	D	0.01	-6.7783	3.0326	0.06111	0.2956:0.3328:0.2878:0.0838	.	24;24	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	W	24	ENSP00000399797:R24W;ENSP00000358659:R24W;ENSP00000350028:R24W	ENSP00000285733:R24W	R	+	1	2	MOV10	113019127	0.000000	0.05858	0.037000	0.18230	0.982000	0.71751	0.159000	0.16442	0.232000	0.21100	0.561000	0.74099	CGG		0.667	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963		8	47	0	0	0	0.006214	0	8	47		
MOV10	4343	broad.mit.edu	37	1	113234326	113234326	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113234326G>T	ENST00000413052.2	+	6	1266	c.876G>T	c.(874-876)ggG>ggT	p.G292G	MOV10_ENST00000357443.2_Silent_p.G292G|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Silent_p.G292G|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Silent_p.G236G	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	292					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G292G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGCGCTGGGGACATACTACC	0.542																																						uc001eck.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(874-876)GGG>GGT		Mov10, Moloney leukemia virus 10, homolog							132.0	131.0	131.0					1																	113234326		2203	4300	6503	SO:0001819	synonymous_variant	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113234326G>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.876G>T	1.37:g.113234326G>T						MOV10_uc001ecl.2_Silent_p.G292G|MOV10_uc001ecn.2_Silent_p.G292G|MOV10_uc001ecm.2_Silent_p.G232G|MOV10_uc009wgj.1_Silent_p.G232G	p.G292G	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	6	1146	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	292					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	c.876G>T	CCDS853.1																																																																																				0.542	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963		20	79	1	0	8.10497e-08	0.010504	8.35144e-08	20	79		
LRIG2	9860	broad.mit.edu	37	1	113657463	113657463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:113657463G>A	ENST00000361127.5	+	15	2693	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	832					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R832K(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TACCACATGAGAAGGAAAAAT	0.398																																						uc001edf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2494-2496)AGA>AAA		leucine-rich repeats and immunoglobulin-like							157.0	116.0	130.0					1																	113657463		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657463G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2495G>A	1.37:g.113657463G>A	ENSP00000355396:p.Arg832Lys					LRIG2_uc009wgn.1_Missense_Mutation_p.R729K	p.R832K	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	15	2693	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	832			Cytoplasmic (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2495G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141677	0.94560	.	.	ENSG00000198799	ENST00000361127	T	0.66995	-0.24	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.82193	2.58	0.53688	D	0.999979	D	0.65815	0.995	D	0.64410	0.925	T	0.82291	-0.0530	10	0.59425	D	0.04	.	18.9052	0.92458	0.0:0.0:1.0:0.0	.	832	O94898	LRIG2_HUMAN	K	832	ENSP00000355396:R832K	ENSP00000355396:R832K	R	+	2	0	LRIG2	113458986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.790000	0.99075	2.462000	0.83206	0.561000	0.74099	AGA		0.398	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813		20	96	0	0	0	0.008871	0	20	96		
OLFML3	56944	broad.mit.edu	37	1	114524373	114524373	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:114524373G>A	ENST00000320334.4	+	3	1277	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	OLFML3_ENST00000369551.1_Silent_p.K381K|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Silent_p.K381K	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	401	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)		p.K401K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATGAGGAAGAAAGAGGAGG	0.458																																						uc001eer.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1201-1203)AAG>AAA		olfactomedin-like 3 precursor							30.0	30.0	30.0					1																	114524373		2203	4300	6503	SO:0001819	synonymous_variant	56944				multicellular organismal development	extracellular region		g.chr1:114524373G>A	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.1203G>A	1.37:g.114524373G>A						OLFML3_uc001ees.1_Silent_p.K381K|OLFML3_uc001eet.1_Silent_p.K257K	p.K401K	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1312	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	401			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Silent	SNP	ENST00000320334.4	37	c.1203G>A	CCDS870.1																																																																																				0.458	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1		NM_020190		8	26	0	0	0	0.004482	0	8	26		
APH1A	51107	broad.mit.edu	37	1	150238976	150238976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:150238976G>C	ENST00000369109.3	-	6	878	c.690C>G	c.(688-690)atC>atG	p.I230M	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.I230M|APH1A_ENST00000414276.2_Missense_Mutation_p.I160M|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	230					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.I230M(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCAGCTGTGATGAAGGCCC	0.567																																						uc001ety.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(688-690)ATC>ATG		anterior pharynx defective 1 homolog A isoform							60.0	66.0	64.0					1																	150238976		2031	4181	6212	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150238976G>C	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.690C>G	1.37:g.150238976G>C	ENSP00000358105:p.Ile230Met					APH1A_uc010pbx.1_Missense_Mutation_p.I160M|APH1A_uc001etz.1_Missense_Mutation_p.I230M|APH1A_uc001eua.1_Missense_Mutation_p.I230M|APH1A_uc010pby.1_Missense_Mutation_p.I173M|APH1A_uc001eub.1_Missense_Mutation_p.I114M|APH1A_uc010pbz.1_Missense_Mutation_p.I114M	p.I230M	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1012	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		230			Helical; Name=7; (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.690C>G	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139875	0.21205	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276	T;T;T	0.43688	0.94;0.94;0.94	6.07	5.16	0.70880	.	0.393472	0.26203	N	0.025734	T	0.15392	0.0371	L	0.29908	0.895	0.30862	N	0.733397	B;B;P;B;B;B	0.39601	0.016;0.002;0.68;0.023;0.029;0.029	B;B;B;B;B;B	0.38954	0.042;0.003;0.286;0.012;0.02;0.029	T	0.07065	-1.0792	10	0.34782	T	0.22	-2.4693	8.8256	0.35052	0.0787:0.1501:0.7712:0.0	.	114;173;160;230;230;230	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	M	230;230;160	ENSP00000358105:I230M;ENSP00000353380:I230M;ENSP00000397473:I160M	ENSP00000353380:I230M	I	-	3	3	APH1A	148505600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.486000	0.45259	1.583000	0.49898	0.650000	0.86243	ATC		0.567	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1		NM_016022		6	37	0	0	0	0.001168	0	6	37		
APH1A	51107	broad.mit.edu	37	1	150240466	150240466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:150240466C>T	ENST00000369109.3	-	2	363	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	APH1A_ENST00000461320.1_Intron|APH1A_ENST00000360244.4_Missense_Mutation_p.V59M|APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	59					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.V59M(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGGTCGGTCACATGGACCAAG	0.542																																						uc001ety.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(175-177)GTG>ATG		anterior pharynx defective 1 homolog A isoform							58.0	65.0	63.0					1																	150240466		1992	4150	6142	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150240466C>T	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.175G>A	1.37:g.150240466C>T	ENSP00000358105:p.Val59Met					APH1A_uc010pbx.1_Intron|APH1A_uc001etz.1_Missense_Mutation_p.V59M|APH1A_uc001eua.1_Missense_Mutation_p.V59M|APH1A_uc010pby.1_Intron|APH1A_uc001eub.1_Intron|APH1A_uc010pbz.1_Intron	p.V59M	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	497	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		59			Lumenal (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.175G>A	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132764	0.56828	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.44083	0.93;0.93	5.0	5.0	0.66597	.	0.235189	0.35585	N	0.003112	T	0.16938	0.0407	N	0.16903	0.455	0.80722	D	1	P;P;P	0.48294	0.887;0.908;0.908	B;B;B	0.43536	0.149;0.232;0.423	T	0.02728	-1.1118	10	0.48119	T	0.1	-9.3801	9.2418	0.37500	0.0:0.9047:0.0:0.0953	.	59;59;59	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	M	59	ENSP00000358105:V59M;ENSP00000353380:V59M	ENSP00000353380:V59M	V	-	1	0	APH1A	148507090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.803000	0.38863	2.586000	0.87340	0.591000	0.81541	GTG		0.542	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1		NM_016022		29	49	0	0	0	0.00632	0	29	49		
FLG	2312	broad.mit.edu	37	1	152281379	152281379	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152281379C>G	ENST00000368799.1	-	3	6018	c.5983G>C	c.(5983-5985)Gaa>Caa	p.E1995Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1995	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E1995Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTGTTCATGGGATGAC	0.567									Ichthyosis																													uc001ezu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5983-5985)GAA>CAA		filaggrin							606.0	482.0	524.0					1																	152281379		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281379C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5983G>C	1.37:g.152281379C>G	ENSP00000357789:p.Glu1995Gln						p.E1995Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6019	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1995			Ser-rich.|Filaggrin 12.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5983G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	9.928	1.214124	0.22289	.	.	ENSG00000143631	ENST00000368799	T	0.05258	3.47	3.71	-1.55	0.08558	.	.	.	.	.	T	0.01387	0.0045	L	0.46157	1.445	0.09310	N	1	B	0.20368	0.044	B	0.14578	0.011	T	0.47686	-0.9098	9	0.17369	T	0.5	.	3.8456	0.08933	0.0:0.3296:0.1937:0.4767	.	1995	P20930	FILA_HUMAN	Q	1995	ENSP00000357789:E1995Q	ENSP00000357789:E1995Q	E	-	1	0	FLG	150548003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.150000	0.11195	-0.234000	0.12200	GAA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		96	819	0	0	0	0.01441	0	96	819		
FLG2	388698	broad.mit.edu	37	1	152327225	152327225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152327225C>T	ENST00000388718.5	-	3	3109	c.3037G>A	c.(3037-3039)Ggt>Agt	p.G1013S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1013	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1013S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGACCATAGCCAGAT	0.483																																						uc001ezw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3037-3039)GGT>AGT		filaggrin family member 2							314.0	307.0	309.0					1																	152327225		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327225C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3037G>A	1.37:g.152327225C>T	ENSP00000373370:p.Gly1013Ser					uc001ezv.2_Intron	p.G1013S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3110	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1013			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3037G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	5.008	0.187263	0.09547	.	.	ENSG00000143520	ENST00000388718	T	0.01516	4.81	4.65	3.69	0.42338	.	.	.	.	.	T	0.01421	0.0046	L	0.52759	1.655	0.09310	N	1	D	0.56968	0.978	P	0.54238	0.746	T	0.49093	-0.8975	9	0.10636	T	0.68	0.2289	10.1243	0.42641	0.1986:0.8014:0.0:0.0	.	1013	Q5D862	FILA2_HUMAN	S	1013	ENSP00000373370:G1013S	ENSP00000373370:G1013S	G	-	1	0	FLG2	150593849	0.181000	0.23161	0.069000	0.20011	0.014000	0.08584	1.897000	0.39799	2.119000	0.64992	0.655000	0.94253	GGT		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		167	367	0	0	0	0.01441	0	167	367		
KPRP	448834	broad.mit.edu	37	1	152732377	152732377	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:152732377T>C	ENST00000606109.1	+	1	341	c.313T>C	c.(313-315)Tcc>Ccc	p.S105P	KPRP_ENST00000368773.1_Missense_Mutation_p.S105P			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	105	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S105P(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCAAACTTCCTCTGTTCA	0.537																																						uc001fal.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(313-315)TCC>CCC		keratinocyte proline-rich protein							239.0	224.0	229.0					1																	152732377		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732377T>C	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.313T>C	1.37:g.152732377T>C	ENSP00000475216:p.Ser105Pro						p.S105P	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	371	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		105			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.313T>C	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105449	0.37145	.	.	ENSG00000203786	ENST00000368773	T	0.14266	2.52	5.59	-7.47	0.01365	.	0.960720	0.08585	N	0.923968	T	0.03011	0.0089	L	0.55481	1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45440	-0.9261	10	0.87932	D	0	-4.4057	1.6199	0.02711	0.4942:0.1439:0.1157:0.2463	.	105	Q5T749	KPRP_HUMAN	P	105	ENSP00000357762:S105P	ENSP00000357762:S105P	S	+	1	0	KPRP	150999001	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.975000	0.03790	-1.421000	0.02007	-0.263000	0.10527	TCC		0.537	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2		NM_001025231		115	274	0	0	0	0.01441	0	115	274		
NUP210L	91181	broad.mit.edu	37	1	154000004	154000004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:154000004G>A	ENST00000368559.3	-	29	3996	c.3925C>T	c.(3925-3927)Cag>Tag	p.Q1309*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.Q1309*|NUP210L_ENST00000368553.1_Nonsense_Mutation_p.Q242*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1309					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.Q1309*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTTTGAGCTGAGAATTTATA	0.368																																						uc001fdw.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3925-3927)CAG>TAG		nucleoporin 210kDa-like isoform 1							137.0	124.0	128.0					1																	154000004		1864	4108	5972	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154000004G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3925C>T	1.37:g.154000004G>A	ENSP00000357547:p.Gln1309*					NUP210L_uc009woq.2_Nonsense_Mutation_p.Q218*|NUP210L_uc010peh.1_Nonsense_Mutation_p.Q1309*	p.Q1309*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		29	3997	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1309					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.3925C>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083247	0.94050	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.2768	17.5978	0.88016	0.0:0.0:1.0:0.0	.	.	.	.	X	1309;242;1309	.	ENSP00000271854:Q1309X	Q	-	1	0	NUP210L	152266628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.235000	0.58666	2.696000	0.92011	0.655000	0.94253	CAG		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		36	101	0	0	0	0.004289	0	36	101		
THBS3	7059	broad.mit.edu	37	1	155177629	155177629	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:155177629G>A	ENST00000368378.3	-	1	59	c.39C>T	c.(37-39)ctC>ctT	p.L13L	THBS3_ENST00000486260.1_Intron|THBS3_ENST00000457183.2_Silent_p.L13L|THBS3_ENST00000541990.1_5'UTR|MTX1_ENST00000316721.4_5'Flank|RP11-263K19.4_ENST00000422665.1_RNA|MTX1_ENST00000368376.3_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|MTX1_ENST00000609421.1_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	13					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L13L(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCAAAGGAGGAGAAGAGCCA	0.607																																						uc001fix.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|ovary(2)	5						c.(37-39)CTC>CTT		thrombospondin 3 precursor							94.0	93.0	93.0					1																	155177629		2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155177629G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.39C>T	1.37:g.155177629G>A						RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.L13L|THBS3_uc001fiz.2_Silent_p.L13L|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.L13L|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjb.2_5'Flank|MTX1_uc001fjc.2_5'Flank	p.L13L	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	62	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		13					B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.39C>T	CCDS1099.1																																																																																				0.607	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		NM_007112		9	52	0	0	0	0.006214	0	9	52		
RIT1	6016	broad.mit.edu	37	1	155880497	155880497	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:155880497G>A	ENST00000368323.3	-	2	260	c.56C>T	c.(55-57)tCa>tTa	p.S19L	RIT1_ENST00000368322.3_Missense_Mutation_p.S36L|RIT1_ENST00000539040.1_Intron	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	19					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.S19L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GTACTCCCGTGAGAGCCCAGC	0.527																																						uc001fmh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(55-57)TCA>TTA		Ras-like without CAAX 1							118.0	125.0	123.0					1																	155880497		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155880497G>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.56C>T	1.37:g.155880497G>A	ENSP00000357306:p.Ser19Leu					RIT1_uc010pgr.1_Intron	p.S19L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		2	243	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		19					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.56C>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979201	0.18812	.	.	ENSG00000143622	ENST00000368323;ENST00000368322	T;T	0.67345	-0.26;-0.26	4.83	3.91	0.45181	.	0.102061	0.40222	N	0.001151	T	0.29423	0.0733	N	0.16266	0.395	0.37881	D	0.930399	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	10	0.15499	T	0.54	.	13.1571	0.59524	0.0:0.1606:0.8394:0.0	.	19	Q92963	RIT1_HUMAN	L	19;36	ENSP00000357306:S19L;ENSP00000357305:S36L	ENSP00000357305:S36L	S	-	2	0	RIT1	154147121	0.972000	0.33761	0.005000	0.12908	0.008000	0.06430	5.299000	0.65716	1.230000	0.43646	-0.181000	0.13052	TCA		0.527	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1		NM_006912		43	138	0	0	0	0.01441	0	43	138		
SEMA4A	64218	broad.mit.edu	37	1	156127890	156127890	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156127890G>C	ENST00000368285.3	+	4	597	c.330G>C	c.(328-330)aaG>aaC	p.K110N	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.K11N|SEMA4A_ENST00000368282.1_Missense_Mutation_p.K110N|SEMA4A_ENST00000368284.1_Missense_Mutation_p.K11N|SEMA4A_ENST00000355014.2_Missense_Mutation_p.K110N	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	110	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K110N(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ACAGAAAAAAGAGTGAATGTG	0.522																																						uc001fnl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(328-330)AAG>AAC		semaphorin B precursor							95.0	84.0	88.0					1																	156127890		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156127890G>C	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.330G>C	1.37:g.156127890G>C	ENSP00000357268:p.Lys110Asn					SEMA4A_uc009wrq.2_Missense_Mutation_p.K110N|SEMA4A_uc001fnm.2_Missense_Mutation_p.K110N|SEMA4A_uc001fnn.2_Missense_Mutation_p.K11N|SEMA4A_uc001fno.2_Missense_Mutation_p.K110N	p.K110N	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN			4	434	+	Hepatocellular(266;0.158)		110			Sema.|Extracellular (Potential).		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.330G>C	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285756	0.59867	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.21543	2.82;2.82;2.82;2.82;2.0;2.0;2.82;2.82	5.54	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.260573	0.30235	N	0.010088	T	0.27866	0.0686	M	0.77712	2.385	0.21064	N	0.999796	D;D	0.76494	0.999;0.996	D;D	0.71656	0.974;0.969	T	0.03514	-1.1029	10	0.48119	T	0.1	.	6.1068	0.20077	0.1053:0.2938:0.601:0.0	.	11;110	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	N	110;11;110;110;11;72;72;11;110;110	ENSP00000401391:K110N;ENSP00000399230:K11N;ENSP00000347117:K110N;ENSP00000357268:K110N;ENSP00000357267:K11N;ENSP00000357269:K11N;ENSP00000392865:K110N;ENSP00000357265:K110N	ENSP00000347117:K110N	K	+	3	2	SEMA4A	154394514	0.995000	0.38212	0.851000	0.33527	0.809000	0.45718	1.208000	0.32345	2.602000	0.87976	0.555000	0.69702	AAG		0.522	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		NM_022367		9	37	0	0	0	0.010729	0	9	37		
ARHGEF11	9826	broad.mit.edu	37	1	156918212	156918212	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156918212C>T	ENST00000361409.2	-	22	2626	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Silent_p.E668E|ARHGEF11_ENST00000315174.8_Silent_p.E44E	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	628					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E668E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGGCACGTTCTCTGCCTTTC	0.602																																						uc001fqo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(1882-1884)GAG>GAA		Rho guanine nucleotide exchange factor (GEF) 11							101.0	85.0	91.0					1																	156918212		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156918212C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1884G>A	1.37:g.156918212C>T						ARHGEF11_uc010phu.1_Silent_p.E44E|ARHGEF11_uc001fqn.2_Silent_p.E668E|ARHGEF11_uc001fqp.1_Silent_p.E147E	p.E628E	NM_014784	NP_055599	O15085	ARHGB_HUMAN			22	2924	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		628					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.1884G>A	CCDS1162.1																																																																																				0.602	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		NM_198236		16	75	0	0	0	0.006122	0	16	75		
SPTA1	6708	broad.mit.edu	37	1	158641938	158641938	+	Missense_Mutation	SNP	C	C	T	rs376169797		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:158641938C>T	ENST00000368147.4	-	11	1579	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	467					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E467K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CGATGACGCTCGTCCCACAGT	0.428																																						uc001fst.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1399-1401)GAG>AAG		spectrin, alpha, erythrocytic 1		T	LYS/GLU	1,3919		0,1,1959	106.0	102.0	103.0		1399	-3.1	0.0	1		103	0,8310		0,0,4155	no	missense	SPTA1	NM_003126.2	56	0,1,6114	TT,TC,CC		0.0,0.0255,0.0082	benign	467/2420	158641938	1,12229	1960	4155	6115	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641938C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1399G>A	1.37:g.158641938C>T	ENSP00000357129:p.Glu467Lys						p.E467K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			11	1598	-	all_hematologic(112;0.0378)		467			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1399G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	2.887	-0.230430	0.05983	2.55E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36340	1.26;1.26	5.0	-3.11	0.05299	.	1.166430	0.06755	N	0.780756	T	0.04998	0.0134	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40590	-0.9555	10	0.13853	T	0.58	.	11.6135	0.51074	0.0:0.1904:0.562:0.2476	.	467	P02549	SPTA1_HUMAN	K	467	ENSP00000357130:E467K;ENSP00000357129:E467K	ENSP00000357129:E467K	E	-	1	0	SPTA1	156908562	0.279000	0.24239	0.000000	0.03702	0.026000	0.11368	0.793000	0.26944	-1.778000	0.01282	-3.024000	0.00073	GAG		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		14	64	0	0	0	0.00245	0	14	64		
OR6N2	81442	broad.mit.edu	37	1	158747226	158747226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:158747226G>A	ENST00000339258.1	-	1	199	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67F(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CTCCAAGAAGGAAAGAACACT	0.443																																						uc010pir.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(199-201)TCC>TTC		olfactory receptor, family 6, subfamily N,							172.0	163.0	166.0					1																	158747226		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747226G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.200C>T	1.37:g.158747226G>A	ENSP00000344101:p.Ser67Phe						p.S67F	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	200	-	all_hematologic(112;0.0378)		67			Helical; Name=2; (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.200C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465996	0.63625	.	.	ENSG00000188340	ENST00000339258	T	0.12361	2.69	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	N	0.001985	T	0.42108	0.1188	M	0.93939	3.475	0.38371	D	0.944881	D	0.76494	0.999	D	0.69824	0.966	T	0.57522	-0.7797	10	0.87932	D	0	-24.9122	17.5939	0.88005	0.0:0.0:1.0:0.0	.	67	Q8NGY6	OR6N2_HUMAN	F	67	ENSP00000344101:S67F	ENSP00000344101:S67F	S	-	2	0	OR6N2	157013850	0.424000	0.25490	1.000000	0.80357	0.923000	0.55619	3.417000	0.52714	2.686000	0.91538	0.650000	0.86243	TCC		0.443	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				28	211	0	0	0	0.005443	0	28	211		
POGK	57645	broad.mit.edu	37	1	166818747	166818747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:166818747C>G	ENST00000367875.1	+	5	1291	c.931C>G	c.(931-933)Cga>Gga	p.R311G	POGK_ENST00000537173.1_Missense_Mutation_p.R193G|POGK_ENST00000536514.1_Missense_Mutation_p.R226G|POGK_ENST00000367876.4_Missense_Mutation_p.R311G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	311	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R311G(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGGTTGGTGTCGAAGAATGAT	0.547																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(931-933)CGA>GGA		pogo transposable element with KRAB domain							76.0	80.0	79.0					1																	166818747		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818747C>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.931C>G	1.37:g.166818747C>G	ENSP00000356849:p.Arg311Gly					POGK_uc010ple.1_Missense_Mutation_p.R226G|POGK_uc010plf.1_Missense_Mutation_p.R193G	p.R311G	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	1051	+			311			HTH CENPB-type.		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.931C>G	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693311	0.30052	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.33865	1.39;1.39;4.63;4.63	5.23	4.33	0.51752	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.41712	D	0.000838	T	0.10852	0.0265	N	0.08118	0	0.38002	D	0.934240	P;P;B	0.45240	0.854;0.77;0.115	P;P;B	0.48270	0.447;0.572;0.072	T	0.06215	-1.0839	8	.	.	.	-10.5615	6.8126	0.23812	0.1728:0.7398:0.0:0.0873	.	193;226;311	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	G	193;226;311;311	ENSP00000442763:R193G;ENSP00000441187:R226G;ENSP00000356850:R311G;ENSP00000356849:R311G	.	R	+	1	2	POGK	165085371	0.000000	0.05858	0.402000	0.26371	0.855000	0.48748	0.495000	0.22483	1.438000	0.47492	-0.137000	0.14449	CGA		0.547	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542		14	95	0	0	0	0.003163	0	14	95		
ADCY10	55811	broad.mit.edu	37	1	167852770	167852770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:167852770C>G	ENST00000367851.4	-	9	1109	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	ADCY10_ENST00000545172.1_Missense_Mutation_p.E156Q|ADCY10_ENST00000367848.1_Missense_Mutation_p.E217Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	309	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.E309Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGGCCTATCTCTTCTGCTTTG	0.438																																						uc001ger.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(925-927)GAG>CAG		adenylate cyclase 10							196.0	171.0	179.0					1																	167852770		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167852770C>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.925G>C	1.37:g.167852770C>G	ENSP00000356825:p.Glu309Gln					ADCY10_uc009wvk.2_Missense_Mutation_p.E217Q|ADCY10_uc010plj.1_Missense_Mutation_p.E156Q|ADCY10_uc009wvl.2_Missense_Mutation_p.E308Q|ADCY10_uc009wvm.2_RNA	p.E309Q	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			9	1223	-			309			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.925G>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103614	0.06967	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	D;D;D	0.81908	-1.55;-1.55;-1.55	5.71	3.83	0.44106	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.782790	0.11272	N	0.581302	T	0.60104	0.2243	L	0.52364	1.645	0.23113	N	0.998275	P;P;P	0.37864	0.61;0.478;0.534	B;B;B	0.32864	0.154;0.069;0.113	T	0.43294	-0.9400	9	0.27785	T	0.31	-5.8153	7.1993	0.25871	0.169:0.7454:0.0:0.0857	.	156;217;309	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	Q	156;309;217	ENSP00000441992:E156Q;ENSP00000356825:E309Q;ENSP00000356822:E217Q	ENSP00000356822:E217Q	E	-	1	0	ADCY10	166119394	0.020000	0.18652	0.812000	0.32479	0.005000	0.04900	1.577000	0.36515	0.750000	0.32877	0.655000	0.94253	GAG		0.438	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		54	207	0	0	0	0.01441	0	54	207		
F5	2153	broad.mit.edu	37	1	169494148	169494148	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:169494148T>C	ENST00000367797.3	-	19	5918		c.e19-2		F5_ENST00000367796.3_Splice_Site	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.?(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCCTACAGTCTATGAAAAACA	0.338																																						uc001ggg.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.e19-1		coagulation factor V precursor	Drotrecogin alfa(DB00055)						75.0	69.0	71.0					1																	169494148		2203	4300	6503	SO:0001630	splice_region_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169494148T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5717-2A>G	1.37:g.169494148T>C							p.D1906_splice	NM_000130	NP_000121	P12259	FA5_HUMAN			19	5862	-	all_hematologic(923;0.208)							A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Splice_Site	SNP	ENST00000367797.3	37	c.5717_splice	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723670	0.48728	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4635	0.75381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	F5	167760772	1.000000	0.71417	0.748000	0.31131	0.475000	0.33008	5.436000	0.66538	2.250000	0.74265	0.533000	0.62120	.		0.338	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130	Intron	40	91	0	0	0	0.00623	0	40	91		
ZBTB37	84614	broad.mit.edu	37	1	173839578	173839578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:173839578C>T	ENST00000367701.5	+	2	406	c.215C>T	c.(214-216)tCa>tTa	p.S72L	GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000427304.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000367702.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000367704.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000432989.1_Missense_Mutation_p.S72L			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S72L(4)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GTCTCCATTTCAGTCATCAAG	0.483																																						uc009wwp.1		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)		0						c.(214-216)TCA>TTA		zinc finger and BTB domain containing 37 isoform							109.0	109.0	109.0					1																	173839578		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839578C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.215C>T	1.37:g.173839578C>T	ENSP00000356674:p.Ser72Leu					GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.S72L|ZBTB37_uc001gjq.3_Missense_Mutation_p.S72L|ZBTB37_uc001gjr.2_Missense_Mutation_p.S72L	p.S72L	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	491	+			72			BTB.		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.215C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737664	0.69304	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.055365	0.85682	D	0.000000	T	0.65080	0.2657	N	0.25957	0.775	0.80722	D	1	D;P	0.63880	0.993;0.941	D;P	0.68039	0.955;0.734	T	0.59332	-0.7474	10	0.07030	T	0.85	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	72;72	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	L	72	ENSP00000356677:S72L;ENSP00000415293:S72L;ENSP00000409408:S72L;ENSP00000356675:S72L;ENSP00000356674:S72L	ENSP00000356674:S72L	S	+	2	0	ZBTB37	172106201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.767000	0.95098	0.563000	0.77884	TCA		0.483	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522		42	80	0	0	0	0.00623	0	42	80		
DHX9	1660	broad.mit.edu	37	1	182822501	182822501	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:182822501G>A	ENST00000367549.3	+	5	535	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	142	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.G142E(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGGGACCGAGGAGCCAACTTG	0.448																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(424-426)GGA>GAA		DEAH (Asp-Glu-Ala-His) box polypeptide 9							67.0	70.0	69.0					1																	182822501		1870	4105	5975	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182822501G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.425G>A	1.37:g.182822501G>A	ENSP00000356520:p.Gly142Glu					DHX9_uc001gps.2_5'UTR	p.G142E	NM_001357	NP_001348	Q08211	DHX9_HUMAN			5	588	+			142			Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.425G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338944	0.81911	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.03920	3.76	5.63	5.63	0.86233	.	0.129781	0.49305	D	0.000151	T	0.14098	0.0341	M	0.72894	2.215	0.80722	D	1	P	0.52842	0.956	P	0.50082	0.63	T	0.00099	-1.2067	10	0.59425	D	0.04	.	17.4626	0.87623	0.0:0.0:1.0:0.0	.	142	Q08211	DHX9_HUMAN	E	142	ENSP00000356520:G142E	ENSP00000356520:G142E	G	+	2	0	DHX9	181089124	1.000000	0.71417	0.755000	0.31263	0.584000	0.36387	5.639000	0.67868	2.655000	0.90218	0.650000	0.86243	GGA		0.448	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588		48	142	0	0	0	0.01441	0	48	142		
SMG7	9887	broad.mit.edu	37	1	183518386	183518386	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:183518386C>T	ENST00000347615.2	+	18	2905	c.2786C>T	c.(2785-2787)tCc>tTc	p.S929F	SMG7_ENST00000508461.1_Missense_Mutation_p.S937F|SMG7_ENST00000456731.2_Missense_Mutation_p.S841F|SMG7_ENST00000507469.1_Missense_Mutation_p.S933F|SMG7_ENST00000367537.3_Missense_Mutation_p.S962F|SMG7_ENST00000515829.2_Missense_Mutation_p.S883F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	929	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.S929F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCACATTCATCCTCTTTCCTG	0.388																																						uc001gqg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2785-2787)TCC>TTC		SMG-7 homolog isoform 1							140.0	127.0	131.0					1																	183518386		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183518386C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2786C>T	1.37:g.183518386C>T	ENSP00000340766:p.Ser929Phe					SMG7_uc001gqf.2_Missense_Mutation_p.S933F|SMG7_uc001gqh.2_Missense_Mutation_p.S883F|SMG7_uc001gqi.2_Missense_Mutation_p.S841F|SMG7_uc010poc.1_Missense_Mutation_p.S937F	p.S929F	NM_173156	NP_775179	Q92540	SMG7_HUMAN			18	2908	+			929			Ser-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2786C>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604250	0.66445	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.629454	0.17814	N	0.161085	T	0.40645	0.1125	L	0.27053	0.805	0.49582	D	0.999807	P;B;B;P;P	0.39216	0.468;0.232;0.189;0.664;0.651	B;B;B;B;B	0.36808	0.109;0.111;0.112;0.233;0.188	T	0.42531	-0.9446	10	0.62326	D	0.03	-4.802	19.5157	0.95162	0.0:1.0:0.0:0.0	.	937;841;883;929;933	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	F	841;962;937;929;933;883	ENSP00000407629:S841F;ENSP00000356507:S962F;ENSP00000426915:S937F;ENSP00000340766:S929F;ENSP00000425133:S933F;ENSP00000421358:S883F	ENSP00000340766:S929F	S	+	2	0	SMG7	181785009	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	5.175000	0.65021	2.602000	0.87976	0.650000	0.86243	TCC		0.388	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		NM_014837		35	78	0	0	0	0.005524	0	35	78		
HMCN1	83872	broad.mit.edu	37	1	186044020	186044020	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:186044020C>G	ENST00000271588.4	+	53	8516	c.8287C>G	c.(8287-8289)Caa>Gaa	p.Q2763E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2763E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2763	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q2763E(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGAATATTCAAGGTAATAC	0.294																																						uc001grq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(8287-8289)CAA>GAA		hemicentin 1 precursor							100.0	100.0	100.0					1																	186044020		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186044020C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8287C>G	1.37:g.186044020C>G	ENSP00000271588:p.Gln2763Glu						p.Q2763E	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			53	8516	+			2763			Ig-like C2-type 25.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8287C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891294	0.91889	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77098	-1.07;-1.07	5.61	5.61	0.85477	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.84197	0.5419	M	0.70903	2.155	0.80722	D	1	P	0.51653	0.947	P	0.60236	0.871	T	0.79242	-0.1884	10	0.02654	T	1	.	19.6241	0.95671	0.0:1.0:0.0:0.0	.	2763	Q96RW7	HMCN1_HUMAN	E	2763	ENSP00000271588:Q2763E;ENSP00000356462:Q2763E	ENSP00000271588:Q2763E	Q	+	1	0	HMCN1	184310643	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.079000	0.71291	2.627000	0.88993	0.591000	0.81541	CAA		0.294	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		20	91	0	0	0	0.014323	0	20	91		
ASPM	259266	broad.mit.edu	37	1	197070599	197070599	+	Silent	SNP	C	C	T	rs587783270|rs199422173		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:197070599C>T	ENST00000367409.4	-	18	8038	c.7782G>A	c.(7780-7782)caG>caA	p.Q2594Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2594					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2594Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAATACTTTCTGTTTCTTTT	0.353																																						uc001gtu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)	6						c.(7780-7782)CAG>CAA		asp (abnormal spindle)-like, microcephaly							55.0	48.0	51.0					1																	197070599		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070599C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7782G>A	1.37:g.197070599C>T						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.Q442Q	p.Q2594Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8039	-			2594					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.7782G>A	CCDS1389.1																																																																																				0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		18	86	0	0	0	0.00499	0	18	86		
KDM5B	10765	broad.mit.edu	37	1	202718108	202718108	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:202718108C>T	ENST00000367265.3	-	14	3145	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D697N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	661					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D661N(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCTTTCTCATCCTCAATCATA	0.388																																						uc001gyf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(1981-1983)GAT>AAT		jumonji, AT rich interactive domain 1B							115.0	110.0	112.0					1																	202718108		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202718108C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1981G>A	1.37:g.202718108C>T	ENSP00000356234:p.Asp661Asn					KDM5B_uc009xag.2_Missense_Mutation_p.D697N|KDM5B_uc001gyg.1_Missense_Mutation_p.D503N	p.D661N	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			14	2097	-			661					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1981G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041816	0.93685	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.85411	-1.88;-1.68;-1.98	5.81	5.81	0.92471	.	0.095985	0.64402	D	0.000001	D	0.83644	0.5299	L	0.33485	1.01	0.80722	D	1	P;B	0.47762	0.9;0.076	P;B	0.45794	0.493;0.063	D	0.85448	0.1159	10	0.87932	D	0	-27.9128	20.089	0.97809	0.0:1.0:0.0:0.0	.	697;661	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	661;503;697;503;30	ENSP00000356234:D661N;ENSP00000356233:D697N;ENSP00000235790:D503N	ENSP00000235790:D503N	D	-	1	0	KDM5B	200984731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.752000	0.94435	0.557000	0.71058	GAT		0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618		46	153	0	0	0	0.011902	0	46	153		
CYB5R1	51706	broad.mit.edu	37	1	202935922	202935922	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:202935922G>C	ENST00000367249.4	-	2	194	c.120C>G	c.(118-120)ctC>ctG	p.L40L	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	40					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.L40L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TGGGGTCCAGGAGAGTGACCT	0.632																																						uc001gyt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(118-120)CTC>CTG		cytochrome b5 reductase 1							45.0	47.0	46.0					1																	202935922		2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202935922G>C	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.120C>G	1.37:g.202935922G>C						CYB5R1_uc010pqe.1_RNA	p.L40L	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	191	-			40					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.120C>G	CCDS1431.1																																																																																				0.632	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1		NM_016243		5	54	0	0	0	0.001168	0	5	54		
LAX1	54900	broad.mit.edu	37	1	203743331	203743331	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:203743331A>G	ENST00000442561.2	+	5	1109	c.719A>G	c.(718-720)gAc>gGc	p.D240G	LAX1_ENST00000367217.5_Missense_Mutation_p.D224G|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	240					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.D240G(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGCTGGTGACTGCACCAGT	0.473																																						uc001haa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(718-720)GAC>GGC		lymphocyte transmembrane adaptor 1 isoform a							80.0	83.0	82.0					1																	203743331		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743331A>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.719A>G	1.37:g.203743331A>G	ENSP00000406970:p.Asp240Gly					LAX1_uc010pql.1_Missense_Mutation_p.D224G|LAX1_uc001hab.2_Missense_Mutation_p.D164G	p.D240G	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1129	+	all_cancers(21;0.0915)		240			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.719A>G	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537905	0.27475	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.3	4.17	0.49024	.	0.202588	0.34314	N	0.004064	T	0.37679	0.1012	L	0.59436	1.845	0.09310	N	1	P;P	0.35793	0.521;0.521	B;B	0.35510	0.204;0.204	T	0.37197	-0.9716	9	0.72032	D	0.01	-10.336	8.118	0.30955	0.9082:0.0:0.0918:0.0	.	224;240	B7Z744;Q8IWV1	.;LAX1_HUMAN	G	240;224	.	ENSP00000356186:D224G	D	+	2	0	LAX1	202009954	0.006000	0.16342	0.002000	0.10522	0.008000	0.06430	1.282000	0.33226	0.841000	0.35020	0.533000	0.62120	GAC		0.473	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3		NM_017773		24	44	0	0	0	0.004656	0	24	44		
REN	5972	broad.mit.edu	37	1	204129688	204129688	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:204129688G>C	ENST00000272190.8	-	4	520	c.492C>G	c.(490-492)acC>acG	p.T164T	REN_ENST00000367195.2_Splice_Site_p.T164T	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	164					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.T164T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCCAACTTACGGTGATGATGT	0.597																																						uc001haq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|central_nervous_system(1)	4						c.(490-492)ACC>ACG		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						160.0	134.0	143.0					1																	204129688		2203	4300	6503	SO:0001630	splice_region_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204129688G>C	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.492+1C>G	1.37:g.204129688G>C							p.T164T	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		4	536	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		164					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.492C>G	CCDS30981.1																																																																																				0.597	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1		NM_000537	Silent	14	41	0	0	0	0.001855	0	14	41		
PFKFB2	5208	broad.mit.edu	37	1	207228122	207228122	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207228122T>C	ENST00000367080.3	+	2	184	c.60T>C	c.(58-60)aaT>aaC	p.N20N	PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000545806.1_5'UTR|YOD1_ENST00000367084.1_5'Flank|YOD1_ENST00000391927.1_5'Flank|PFKFB2_ENST00000367079.2_Silent_p.N20N	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	20	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)	p.N20N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AAACCCCAAATCTTCGAATGT	0.428																																						uc001hfg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(58-60)AAT>AAC		6-phosphofructo-2-kinase/fructose-2,							57.0	53.0	54.0					1																	207228122		2203	4300	6503	SO:0001819	synonymous_variant	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207228122T>C		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.60T>C	1.37:g.207228122T>C						PFKFB2_uc010psc.1_5'UTR|YOD1_uc001hff.1_5'Flank|PFKFB2_uc001hfh.2_Silent_p.N20N|PFKFB2_uc009xcc.2_5'UTR	p.N20N	NM_006212	NP_006203	O60825	F262_HUMAN			2	169	+	Prostate(682;0.19)		20			6-phosphofructo-2-kinase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	c.60T>C	CCDS31004.1																																																																																				0.428	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1				7	30	0	0	0	0.00308	0	7	30		
CD55	1604	broad.mit.edu	37	1	207495889	207495889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:207495889C>T	ENST00000367064.3	+	2	521	c.263C>T	c.(262-264)tCa>tTa	p.S88L	CD55_ENST00000367062.4_Missense_Mutation_p.S88L|CD55_ENST00000367067.4_Missense_Mutation_p.S88L|CD55_ENST00000367063.2_Missense_Mutation_p.S88L|CD55_ENST00000391920.4_Missense_Mutation_p.S88L|CD55_ENST00000314754.8_Missense_Mutation_p.S88L|CD55_ENST00000391921.4_Missense_Mutation_p.S88L|CD55_ENST00000367065.5_Missense_Mutation_p.S88L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	88	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)	p.S88L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGTCAATGGTCAGATATTGAA	0.363																																						uc001hfq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1	GRCh37	CS982156	CD55	S		c.(262-264)TCA>TTA		decay accelerating factor for complement isoform	Chloramphenicol(DB00446)						80.0	82.0	81.0					1																	207495889		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207495889C>T	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.263C>T	1.37:g.207495889C>T	ENSP00000356031:p.Ser88Leu					CD55_uc001hfp.3_Missense_Mutation_p.S88L|CD55_uc001hfr.3_Missense_Mutation_p.S88L|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.S88L|CD55_uc009xce.2_Missense_Mutation_p.S88L	p.S88L	NM_000574	NP_000565	P08174	DAF_HUMAN			2	557	+			88			Sushi 1.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.263C>T	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.35|17.35	3.367239|3.367239	0.61513|0.61513	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000391921;ENST00000367067;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	.|T;T;T;T;T;T;T;T	.|0.69175	.|-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.141525	.|0.32719	.|N	.|0.005737	.|D	.|0.83326	.|0.5230	M|M	0.87269|0.87269	2.87|2.87	0.44092|0.44092	D|D	0.996851|0.996851	.|D;D;D;D;D	.|0.76494	.|0.995;0.993;0.997;0.997;0.999	.|P;P;D;P;D	.|0.72625	.|0.902;0.718;0.944;0.871;0.978	.|D	.|0.86005	.|0.1497	.|10	.|0.72032	.|D	.|0.01	.|.	14.7745|14.7745	0.69713|0.69713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|88;88;88;88;88	.|B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.|.;.;.;DAF_HUMAN;.	X|L	98|88	.|ENSP00000356031:S88L;ENSP00000356030:S88L;ENSP00000375788:S88L;ENSP00000356034:S88L;ENSP00000316333:S88L;ENSP00000356032:S88L;ENSP00000375787:S88L;ENSP00000356029:S88L	.|ENSP00000316333:S88L	Q|S	+|+	1|2	0|0	CD55|CD55	205562512|205562512	0.716000|0.716000	0.27956|0.27956	0.644000|0.644000	0.29465|0.29465	0.048000|0.048000	0.14542|0.14542	2.201000|2.201000	0.42734|0.42734	2.553000|2.553000	0.86117|0.86117	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.363	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2		NM_000574		35	79	0	0	0	0.004878	0	35	79		
DIEXF	27042	broad.mit.edu	37	1	210010531	210010531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:210010531G>A	ENST00000491415.2	+	6	1094	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	346					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R346K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GATGACTTCAGAGACCAAGGG	0.522																																						uc001hhr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1036-1038)AGA>AAA		digestive-organ expansion factor homolog							47.0	38.0	41.0					1																	210010531		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210010531G>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1037G>A	1.37:g.210010531G>A	ENSP00000419005:p.Arg346Lys					C1orf107_uc009xcu.1_Missense_Mutation_p.R61K	p.R346K	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	6	1113	+			346					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1037G>A	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222485	0.95139	.	.	ENSG00000117597	ENST00000491415	T	0.57907	0.37	5.91	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.74258	2.255	0.80722	D	1	D	0.58970	0.984	P	0.53224	0.721	T	0.67019	-0.5776	10	0.40728	T	0.16	-24.4178	15.1828	0.72972	0.0673:0.0:0.9327:0.0	.	346	Q68CQ4	DIEXF_HUMAN	K	346	ENSP00000419005:R346K	ENSP00000419005:R346K	R	+	2	0	DIEXF	208077154	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.640000	0.98453	1.503000	0.48686	0.655000	0.94253	AGA		0.522	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2		NM_014388		4	36	0	0	0	0.009096	0	4	36		
LPGAT1	9926	broad.mit.edu	37	1	211966441	211966441	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:211966441C>T	ENST00000366997.4	-	3	556	c.330G>A	c.(328-330)ctG>ctA	p.L110L	RN7SL344P_ENST00000485522.2_RNA|LPGAT1_ENST00000366996.1_Silent_p.L110L	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	110					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.L110L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GGCACATCATCAGTGTGCACA	0.448																																						uc001hiu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(328-330)CTG>CTA		lysophosphatidylglycerol acyltransferase 1							287.0	265.0	272.0					1																	211966441		2203	4300	6503	SO:0001819	synonymous_variant	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211966441C>T	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.330G>A	1.37:g.211966441C>T						LPGAT1_uc001hiv.2_Silent_p.L110L	p.L110L	NM_014873	NP_055688	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	3	1143	-			110					Q53YL2	Silent	SNP	ENST00000366997.4	37	c.330G>A	CCDS31018.1																																																																																				0.448	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1		NM_014873		123	283	0	0	0	0.01441	0	123	283		
FLVCR1	28982	broad.mit.edu	37	1	213032136	213032136	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:213032136C>T	ENST00000366971.4	+	1	540	c.342C>T	c.(340-342)ttC>ttT	p.F114F	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	114					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)	p.F114F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TCCTGATCTTCAGCCTGTACT	0.637																																					Esophageal Squamous(199;2235 2952 19233 26256)	uc001hjt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(340-342)TTC>TTT		feline leukemia virus subgroup C cellular							59.0	45.0	50.0					1																	213032136		2203	4300	6503	SO:0001819	synonymous_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032136C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.342C>T	1.37:g.213032136C>T						LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	p.F114F	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	540	+			114			Helical; (Potential).		Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	ENST00000366971.4	37	c.342C>T	CCDS1510.1																																																																																				0.637	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2		NM_014053		22	44	0	0	0	0.012319	0	22	44		
RPS6KC1	26750	broad.mit.edu	37	1	213415370	213415370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:213415370G>A	ENST00000366960.3	+	11	2701	c.2551G>A	c.(2551-2553)Gat>Aat	p.D851N	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D639N|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D839N|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D554N	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	851	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.D851N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGATCAGACTGATGATTTGGC	0.383																																						uc010ptr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(3)|breast(1)	8						c.(2551-2553)GAT>AAT		ribosomal protein S6 kinase, 52kDa, polypeptide							113.0	117.0	115.0					1																	213415370		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415370G>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2551G>A	1.37:g.213415370G>A	ENSP00000355927:p.Asp851Asn					RPS6KC1_uc001hkd.2_Missense_Mutation_p.D839N|RPS6KC1_uc010pts.1_Missense_Mutation_p.D639N|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D639N|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D670N|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D386N|RPS6KC1_uc001hke.2_Missense_Mutation_p.D670N	p.D851N	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2710	+			851			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2551G>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462429	0.43736	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.45668	1.45;1.46;1.47;0.89	5.42	5.42	0.78866	Protein kinase, catalytic domain (1);	0.492283	0.20831	N	0.084896	T	0.33089	0.0851	N	0.14661	0.345	0.32221	N	0.575193	P;B;B	0.37370	0.592;0.321;0.321	B;B;B	0.38985	0.287;0.063;0.063	T	0.37267	-0.9713	10	0.38643	T	0.18	-40.4005	19.2322	0.93845	0.0:0.0:1.0:0.0	.	639;851;839	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	N	639;851;839;554	ENSP00000442306:D639N;ENSP00000355927:D851N;ENSP00000355926:D839N;ENSP00000439282:D554N	ENSP00000355926:D839N	D	+	1	0	RPS6KC1	211481993	1.000000	0.71417	0.469000	0.27204	0.857000	0.48899	6.450000	0.73477	2.525000	0.85131	0.655000	0.94253	GAT		0.383	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		64	173	0	0	0	0.01441	0	64	173		
TAF1A	9015	broad.mit.edu	37	1	222743964	222743964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:222743964G>A	ENST00000352967.4	-	6	836	c.648C>T	c.(646-648)ttC>ttT	p.F216F	TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Silent_p.F102F|TAF1A_ENST00000543857.1_Silent_p.F216F|TAF1A_ENST00000391882.1_Silent_p.F102F|TAF1A_ENST00000350027.4_Silent_p.F216F	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	216					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.F216F(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		AGCTGTGGTTGAACACATCCT	0.363																																						uc009xdz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(646-648)TTC>TTT		TBP-associated factor 1A isoform 2							107.0	111.0	110.0					1																	222743964		2203	4300	6503	SO:0001819	synonymous_variant	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222743964G>A	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.648C>T	1.37:g.222743964G>A						TAF1A_uc001hni.1_Silent_p.F102F|TAF1A_uc001hnj.2_Silent_p.F216F|TAF1A_uc001hnk.2_Silent_p.F102F|TAF1A_uc010pur.1_Silent_p.F216F	p.F216F	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	6	837	-			216					B2RDZ8|D3DTB7|Q9NWA1	Silent	SNP	ENST00000352967.4	37	c.648C>T	CCDS1531.1																																																																																				0.363	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2		NM_005681		85	166	0	0	0	0.01441	0	85	166		
OBSCN	84033	broad.mit.edu	37	1	228434453	228434453	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:228434453T>A	ENST00000422127.1	+	13	4026	c.3982T>A	c.(3982-3984)Tac>Aac	p.Y1328N	OBSCN_ENST00000284548.11_Missense_Mutation_p.Y1328N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.Y1420N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1328	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Y1328N(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGGGGAGTACACCTGTGA	0.597																																						uc009xez.1		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3982-3984)TAC>AAC		obscurin, cytoskeletal calmodulin and							67.0	76.0	73.0					1																	228434453		2032	4182	6214	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228434453T>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3982T>A	1.37:g.228434453T>A	ENSP00000409493:p.Tyr1328Asn					OBSCN_uc001hsn.2_Missense_Mutation_p.Y1328N	p.Y1328N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			13	4026	+		Prostate(94;0.0405)	1328			Ig-like 13.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3982T>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	13.97	2.397292	0.42512	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.26373	1.74;1.74	5.07	5.07	0.68467	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.70193	0.3196	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.84243	0.0473	10	0.72032	D	0.01	.	14.8212	0.70074	0.0:0.0:0.0:1.0	.	1328;1328	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	1328	ENSP00000284548:Y1328N;ENSP00000409493:Y1328N	ENSP00000284548:Y1328N	Y	+	1	0	OBSCN	226501076	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.633000	0.83260	1.893000	0.54813	0.455000	0.32223	TAC		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		31	68	0	0	0	0.003755	0	31	68		
URB2	9816	broad.mit.edu	37	1	229771854	229771854	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229771854C>T	ENST00000258243.2	+	4	1630	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	498						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L498L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCACGGTACTCTCTGCATGCC	0.577																																						uc001hts.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(1492-1494)CTC>CTT		URB2 ribosome biogenesis 2 homolog							112.0	117.0	115.0					1																	229771854		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229771854C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1494C>T	1.37:g.229771854C>T						URB2_uc009xfd.1_Silent_p.L498L	p.L498L	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	1630	+			498					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.1494C>T	CCDS31052.1																																																																																				0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777		62	127	0	0	0	0.01441	0	62	127		
URB2	9816	broad.mit.edu	37	1	229772944	229772944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229772944G>A	ENST00000258243.2	+	4	2720	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	862						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E862K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGCTGGACCCGAAGGTATAGA	0.498																																						uc001hts.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(2584-2586)GAA>AAA		URB2 ribosome biogenesis 2 homolog							85.0	89.0	87.0					1																	229772944		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229772944G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2584G>A	1.37:g.229772944G>A	ENSP00000258243:p.Glu862Lys					URB2_uc009xfd.1_Missense_Mutation_p.E862K	p.E862K	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	2720	+			862					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.2584G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	0.922	-0.715640	0.03206	.	.	ENSG00000135763	ENST00000258243	T	0.29142	1.58	4.95	4.04	0.47022	.	0.827591	0.11397	N	0.568255	T	0.15998	0.0385	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.23547	-1.0185	9	.	.	.	-6.8397	3.3779	0.07244	0.1536:0.1351:0.572:0.1392	.	862	Q14146	URB2_HUMAN	K	862	ENSP00000258243:E862K	.	E	+	1	0	URB2	227839567	0.005000	0.15991	0.017000	0.16124	0.284000	0.27059	1.417000	0.34770	1.227000	0.43598	0.585000	0.79938	GAA		0.498	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777		21	144	0	0	0	0.010504	0	21	144		
URB2	9816	broad.mit.edu	37	1	229773668	229773668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:229773668C>T	ENST00000258243.2	+	4	3444	c.3308C>T	c.(3307-3309)tCa>tTa	p.S1103L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1103						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S1103L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGCTCTGCTCAGTGCCGGGG	0.647																																						uc001hts.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(3307-3309)TCA>TTA		URB2 ribosome biogenesis 2 homolog							32.0	37.0	35.0					1																	229773668		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773668C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3308C>T	1.37:g.229773668C>T	ENSP00000258243:p.Ser1103Leu					URB2_uc009xfd.1_Missense_Mutation_p.S1103L	p.S1103L	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	3444	+			1103					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3308C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	3.232	-0.157185	0.06544	.	.	ENSG00000135763	ENST00000258243	T	0.25579	1.79	5.65	-11.3	0.00108	.	1.890330	0.02794	N	0.122358	T	0.08133	0.0203	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20174	-1.0283	9	.	.	.	3.9887	13.1586	0.59533	0.0:0.1176:0.2282:0.6543	.	1103	Q14146	URB2_HUMAN	L	1103	ENSP00000258243:S1103L	.	S	+	2	0	URB2	227840291	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.712000	0.05013	-2.501000	0.00510	-0.225000	0.12378	TCA		0.647	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777		17	69	0	0	0	0.010504	0	17	69		
COG2	22796	broad.mit.edu	37	1	230819378	230819378	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:230819378C>T	ENST00000366669.4	+	11	1340	c.1225C>T	c.(1225-1227)Cca>Tca	p.P409S	COG2_ENST00000546013.1_Missense_Mutation_p.P98S|COG2_ENST00000366668.3_Missense_Mutation_p.P409S|COG2_ENST00000535166.1_Missense_Mutation_p.P293S|COG2_ENST00000534989.1_Missense_Mutation_p.P350S	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	409					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.P409S(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAAGATGCCCCAGGTAACTC	0.393																																						uc001htw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1225-1227)CCA>TCA		component of oligomeric golgi complex 2 isoform							118.0	113.0	115.0					1																	230819378		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230819378C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1225C>T	1.37:g.230819378C>T	ENSP00000355629:p.Pro409Ser					COG2_uc001htx.2_Missense_Mutation_p.P409S|COG2_uc010pwc.1_Missense_Mutation_p.P282S	p.P409S	NM_007357	NP_031383	Q14746	COG2_HUMAN			11	1376	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	409					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1225C>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605923	0.28623	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.43294	3.62;3.62;3.62;3.62;0.95	5.69	5.69	0.88448	.	0.097279	0.64402	D	0.000001	T	0.29882	0.0747	L	0.31526	0.94	0.80722	D	1	P;B	0.36144	0.539;0.226	B;B	0.31751	0.135;0.093	T	0.13019	-1.0525	10	0.05721	T	0.95	-15.6724	19.8057	0.96531	0.0:1.0:0.0:0.0	.	409;409	Q86U99;Q14746	.;COG2_HUMAN	S	409;293;409;350;98	ENSP00000355629:P409S;ENSP00000445724:P293S;ENSP00000355628:P409S;ENSP00000440349:P350S;ENSP00000442147:P98S	ENSP00000355628:P409S	P	+	1	0	COG2	228886001	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.413000	0.59795	2.682000	0.91365	0.655000	0.94253	CCA		0.393	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1		NM_007357		42	91	0	0	0	0.013114	0	42	91		
FMN2	56776	broad.mit.edu	37	1	240341299	240341299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:240341299C>T	ENST00000319653.9	+	3	2091	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	621					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R764*(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTTTCCTAGGCGAGTTCCATC	0.448																																						uc010pyd.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(1)|endometrium(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1861-1863)CGA>TGA		formin 2							99.0	96.0	97.0					1																	240341299		2203	4300	6503	SO:0001587	stop_gained	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240341299C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1861C>T	1.37:g.240341299C>T	ENSP00000318884:p.Arg621*					FMN2_uc010pye.1_Nonsense_Mutation_p.R621*	p.R621*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2086	+	Ovarian(103;0.127)	all_cancers(173;0.013)	621					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	c.1861C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	37	5.985176	0.97173	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	.	.	.	5.52	-6.57	0.01842	.	0.088771	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1987	0.73116	0.7581:0.1795:0.0:0.0624	.	.	.	.	X	54;621	.	ENSP00000318884:R621X	R	+	1	2	FMN2	238407922	0.933000	0.31639	0.137000	0.22149	0.252000	0.25951	-0.140000	0.10342	-1.430000	0.01985	0.650000	0.86243	CGA		0.448	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352		25	67	0	0	0	0.007291	0	25	67		
EXO1	9156	broad.mit.edu	37	1	242048771	242048771	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:242048771C>G	ENST00000366548.3	+	15	2960	c.2367C>G	c.(2365-2367)atC>atG	p.I789M	EXO1_ENST00000348581.5_Missense_Mutation_p.I789M|EXO1_ENST00000518483.1_Missense_Mutation_p.I789M	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	789	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.I789M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTACAGATCAAACTCAATG	0.428								Editing and processing nucleases																														uc001hzh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|skin(1)	5						c.(2365-2367)ATC>ATG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							84.0	92.0	90.0					1																	242048771		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242048771C>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2367C>G	1.37:g.242048771C>G	ENSP00000355506:p.Ile789Met					EXO1_uc001hzi.2_Missense_Mutation_p.I789M|EXO1_uc001hzj.2_Missense_Mutation_p.I789M|EXO1_uc009xgq.2_Missense_Mutation_p.I788M	p.I789M	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		15	2907	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	789			Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2367C>G	CCDS1620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580396|2.580396	0.46006|0.46006	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483|ENST00000521202	T;T;T|.	0.65916|.	-0.18;-0.18;-0.18|.	5.86|5.86	-5.79|-5.79	0.02354|0.02354	.|.	0.336729|.	0.29660|.	N|.	0.011540|.	T|T	0.45994|0.45994	0.1370|0.1370	L|L	0.57536|0.57536	1.79|1.79	0.22034|0.22034	N|N	0.999407|0.999407	P;P;P|.	0.49783|.	0.883;0.928;0.883|.	B;P;B|.	0.48189|.	0.438;0.57;0.438|.	T|T	0.54022|0.54022	-0.8355|-0.8355	10|5	0.51188|.	T|.	0.08|.	-18.0023|-18.0023	10.6079|10.6079	0.45404|0.45404	0.3583:0.5143:0.1273:0.0|0.3583:0.5143:0.1273:0.0	.|.	788;789;789|.	A8K5H6;Q9UQ84-4;Q9UQ84|.	.;.;EXO1_HUMAN|.	M|E	789|154	ENSP00000355506:I789M;ENSP00000311873:I789M;ENSP00000430251:I789M|.	ENSP00000311873:I789M|.	I|Q	+|+	3|1	3|0	EXO1|EXO1	240115394|240115394	0.563000|0.563000	0.26594|0.26594	0.982000|0.982000	0.44146|0.44146	0.601000|0.601000	0.36947|0.36947	-0.280000|-0.280000	0.08468|0.08468	-0.427000|-0.427000	0.07350|0.07350	-0.402000|-0.402000	0.06365|0.06365	ATC|CAA		0.428	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1		NM_006027		20	89	0	0	0	0.00278	0	20	89		
ADSS	159	broad.mit.edu	37	1	244614999	244614999	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:244614999C>T	ENST00000366535.3	-	1	437	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.E41K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CCTTTGCCTTCGTCGCCCCAC	0.736																																						uc001iaj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)	3						c.(121-123)GAA>AAA		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						37.0	31.0	33.0					1																	244614999		2202	4298	6500	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244614999C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.121G>A	1.37:g.244614999C>T	ENSP00000355493:p.Glu41Lys					C1orf101_uc001iak.1_5'Flank|ADSS_uc009xgr.1_RNA	p.E41K	NM_001126	NP_001117	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		1	415	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	41			IMP binding (By similarity).|GTP.			Missense_Mutation	SNP	ENST00000366535.3	37	c.121G>A	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223497	0.97390	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.62105	0.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.91151	0.4953	10	0.87932	D	0	-20.8544	18.4916	0.90849	0.0:1.0:0.0:0.0	.	41	P30520	PURA2_HUMAN	K	41;20	ENSP00000355493:E41K	ENSP00000355493:E41K	E	-	1	0	ADSS	242681622	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.074000	0.76791	2.468000	0.83385	0.655000	0.94253	GAA		0.736	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1		NM_001126		4	9	0	0	0	0.000602	0	4	9		
OR2G2	81470	broad.mit.edu	37	1	247752506	247752506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:247752506C>T	ENST00000320065.1	+	1	845	c.845C>T	c.(844-846)aCt>aTt	p.T282I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T282I(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCTTCTACACTGTGGTAACC	0.448																																						uc010pyy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(844-846)ACT>ATT		olfactory receptor, family 2, subfamily G,							136.0	135.0	136.0					1																	247752506		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752506C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.845C>T	1.37:g.247752506C>T	ENSP00000326349:p.Thr282Ile						p.T282I	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	845	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		282			Helical; Name=7; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.845C>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073754	0.55646	.	.	ENSG00000177489	ENST00000320065	T	0.00241	8.46	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.407810	0.17836	U	0.160345	T	0.00608	0.0020	M	0.85945	2.785	0.25272	N	0.989504	D	0.65815	0.995	D	0.71414	0.973	T	0.43605	-0.9381	10	0.66056	D	0.02	.	14.3294	0.66545	0.0:1.0:0.0:0.0	.	282	Q8NGZ5	OR2G2_HUMAN	I	282	ENSP00000326349:T282I	ENSP00000326349:T282I	T	+	2	0	OR2G2	245819129	0.002000	0.14202	0.995000	0.50966	0.887000	0.51463	1.298000	0.33412	2.206000	0.71126	0.591000	0.81541	ACT		0.448	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				125	201	0	0	0	0.01441	0	125	201		
SLC39A12	221074	broad.mit.edu	37	10	18331702	18331702	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:18331702G>C	ENST00000377369.2	+	13	2289	c.2016G>C	c.(2014-2016)ttG>ttC	p.L672F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L671F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L635F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L538F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	672					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.L635F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACTTTGGATTGATCCTAGGTT	0.338																																						uc001ipo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(2014-2016)TTG>TTC		solute carrier family 39 (zinc transporter),							112.0	107.0	108.0					10																	18331702		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18331702G>C		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.2016G>C	10.37:g.18331702G>C	ENSP00000366586:p.Leu672Phe					SLC39A12_uc001ipn.2_Missense_Mutation_p.L635F|SLC39A12_uc001ipp.2_Missense_Mutation_p.L671F|SLC39A12_uc010qck.1_Missense_Mutation_p.L538F	p.L672F	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			13	2289	+			672			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.2016G>C	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260185	0.59321	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.45285	1.41	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.972;1.0	D;P;D	0.91635	0.999;0.801;0.999	T	0.56950	-0.7894	10	0.48119	T	0.1	-6.7352	11.429	0.50029	0.1071:0.0:0.8929:0.0	.	671;672;635	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	F	672;635;671;538;592	ENSP00000366586:L672F;ENSP00000366591:L635F;ENSP00000366588:L671F;ENSP00000440445:L538F	ENSP00000366586:L672F	L	+	3	2	SLC39A12	18371708	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.202000	0.58446	2.865000	0.98341	0.655000	0.94253	TTG		0.338	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725		35	186	0	0	0	0.003755	0	35	186		
CUL2	8453	broad.mit.edu	37	10	35317794	35317794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:35317794G>A	ENST00000374748.1	-	17	1874	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	CUL2_ENST00000374751.3_Nonsense_Mutation_p.Q521*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.Q521*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.Q540*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.Q521*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.Q521*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.Q464*			Q13617	CUL2_HUMAN	cullin 2	521					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.Q521*(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GAAGGAGCCTGAGTAAGAGGC	0.308																																						uc001ixv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)	3						c.(1561-1563)CAG>TAG		cullin 2							40.0	41.0	41.0					10																	35317794		2203	4300	6503	SO:0001587	stop_gained	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35317794G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1561C>T	10.37:g.35317794G>A	ENSP00000363880:p.Gln521*					CUL2_uc009xma.2_Nonsense_Mutation_p.Q390*|CUL2_uc010qer.1_Nonsense_Mutation_p.Q540*|CUL2_uc001ixw.2_Nonsense_Mutation_p.Q521*|CUL2_uc010qes.1_Nonsense_Mutation_p.Q458*	p.Q521*	NM_003591	NP_003582	Q13617	CUL2_HUMAN			16	1771	-			521					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Nonsense_Mutation	SNP	ENST00000374748.1	37	c.1561C>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	38	7.133201	0.98085	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	.	.	.	6.07	6.07	0.98685	.	0.047868	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-15.8533	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	521;521;521;521;464;521;540	.	ENSP00000363874:Q521X	Q	-	1	0	CUL2	35357800	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.864000	0.99589	2.885000	0.99019	0.655000	0.94253	CAG		0.308	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1		NM_003591		19	35	0	0	0	0.008871	0	19	35		
FZD8	8325	broad.mit.edu	37	10	35929518	35929518	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:35929518C>G	ENST00000374694.1	-	1	844	c.840G>C	c.(838-840)tgG>tgC	p.W280C	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	280					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.W280C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACAGGCCGATCCAGAAGACGG	0.612																																						uc001iyz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(838-840)TGG>TGC		frizzled 8 precursor							50.0	46.0	48.0					10																	35929518		2202	4300	6502	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929518C>G	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.840G>C	10.37:g.35929518C>G	ENSP00000363826:p.Trp280Cys						p.W280C	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			1	845	-			280			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000374694.1	37	c.840G>C	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986697	0.53934	.	.	ENSG00000177283	ENST00000374694	D	0.84298	-1.83	3.01	3.01	0.34805	GPCR, family 2-like (1);	0.199413	0.38492	U	0.001663	D	0.94225	0.8146	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95562	0.8630	10	0.87932	D	0	.	13.1896	0.59702	0.0:1.0:0.0:0.0	.	280	Q9H461	FZD8_HUMAN	C	280	ENSP00000363826:W280C	ENSP00000363826:W280C	W	-	3	0	FZD8	35969524	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.770000	0.62309	1.676000	0.50930	0.289000	0.19496	TGG		0.612	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2		NM_031866		3	45	0	0	0	0.004672	0	3	45		
HNRNPF	3185	broad.mit.edu	37	10	43883236	43883236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:43883236C>T	ENST00000544000.1	-	4	504	c.97G>A	c.(97-99)Gac>Aac	p.D33N	HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000337970.3_Missense_Mutation_p.D33N|HNRNPF_ENST00000443950.2_Missense_Mutation_p.D33N|HNRNPF_ENST00000357065.4_Missense_Mutation_p.D33N|HNRNPF_ENST00000356053.3_Missense_Mutation_p.D33N	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	33	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.D33N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATCGTGCAGTCAGAGAGGAAG	0.552																																						uc009xmh.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(97-99)GAC>AAC		heterogeneous nuclear ribonucleoprotein F							69.0	67.0	68.0					10																	43883236		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43883236C>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.97G>A	10.37:g.43883236C>T	ENSP00000438061:p.Asp33Asn					HNRNPF_uc001jar.2_Missense_Mutation_p.D33N|HNRNPF_uc001jas.2_Missense_Mutation_p.D33N|HNRNPF_uc001jat.2_Missense_Mutation_p.D33N|HNRNPF_uc001jav.2_Missense_Mutation_p.D33N|HNRNPF_uc001jau.2_Missense_Mutation_p.D33N	p.D33N	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	584	-			33			RRM 1.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.97G>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	9.530	1.110666	0.20714	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.17	1.35	0.21983	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.468375	0.26275	N	0.025310	T	0.20333	0.0489	L	0.31926	0.97	0.39969	D	0.974765	B	0.06786	0.001	B	0.14578	0.011	T	0.06127	-1.0844	10	0.39692	T	0.17	-17.176	7.9862	0.30213	0.0:0.7186:0.0:0.2814	.	33	P52597	HNRPF_HUMAN	N	33	ENSP00000438061:D33N;ENSP00000400433:D33N;ENSP00000348345:D33N;ENSP00000349573:D33N;ENSP00000338477:D33N	ENSP00000338477:D33N	D	-	1	0	HNRNPF	43203242	0.993000	0.37304	0.739000	0.30968	0.661000	0.39034	2.677000	0.46892	0.323000	0.23307	-0.145000	0.13849	GAC		0.552	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2				20	79	0	0	0	0.007413	0	20	79		
ZNF239	8187	broad.mit.edu	37	10	44052855	44052855	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:44052855G>A	ENST00000306006.6	-	2	1325	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	ZNF239_ENST00000535642.1_Missense_Mutation_p.H225Y|ZNF239_ENST00000374446.2_Missense_Mutation_p.H225Y|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000426961.1_Missense_Mutation_p.H225Y	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H225Y(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTCTCTGATGAAGTAGTAGC	0.458																																						uc001jaw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(673-675)CAT>TAT		zinc finger protein 239							113.0	109.0	111.0					10																	44052855		2079	4229	6308	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052855G>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.673C>T	10.37:g.44052855G>A	ENSP00000307774:p.His225Tyr					ZNF239_uc001jax.3_Missense_Mutation_p.H225Y|ZNF239_uc009xmj.2_Missense_Mutation_p.H225Y|ZNF239_uc009xmk.2_Missense_Mutation_p.H225Y	p.H225Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1326	-			225			C2H2-type 1.		Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.673C>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846672	0.71603	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	3.91	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95010	0.8385	H	0.95645	3.7	0.39445	D	0.967315	D	0.89917	1.0	D	0.72982	0.979	D	0.96501	0.9371	9	0.87932	D	0	-11.653	14.2205	0.65823	0.0:0.0:1.0:0.0	.	225	Q16600	ZN239_HUMAN	Y	225	ENSP00000307774:H225Y;ENSP00000363569:H225Y;ENSP00000398202:H225Y;ENSP00000443907:H225Y	ENSP00000307774:H225Y	H	-	1	0	ZNF239	43372861	1.000000	0.71417	0.686000	0.30086	0.739000	0.42172	6.964000	0.76061	2.472000	0.83506	0.655000	0.94253	CAT		0.458	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1				28	223	0	0	0	0.005443	0	28	223		
FRMPD2	143162	broad.mit.edu	37	10	49450206	49450206	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:49450206C>T	ENST00000374201.3	-	5	867	c.565G>A	c.(565-567)Gag>Aag	p.E189K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E158K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E165K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	189	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.E189K(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTACTGACCTCAGAAATGGTA	0.423																																						uc001jgi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(565-567)GAG>AAG		FERM and PDZ domain containing 2 isoform 3							87.0	87.0	87.0					10																	49450206		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49450206C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.565G>A	10.37:g.49450206C>T	ENSP00000363317:p.Glu189Lys					FRMPD2_uc001jgh.2_Missense_Mutation_p.E158K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E167K	p.E189K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	5	672	-			189			KIND.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.565G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848455	0.51164	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.33654	1.59;1.4;1.4	5.36	2.41	0.29592	KIND (2);	.	.	.	.	T	0.51126	0.1656	M	0.71581	2.175	0.22639	N	0.998907	D;P;D	0.55605	0.972;0.844;0.972	P;B;P	0.60236	0.871;0.272;0.871	T	0.37009	-0.9724	9	0.72032	D	0.01	.	7.3535	0.26706	0.0:0.5859:0.3253:0.0888	.	165;189;158	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	K	189;165;158	ENSP00000363317:E189K;ENSP00000307079:E165K;ENSP00000384339:E158K	ENSP00000307079:E165K	E	-	1	0	FRMPD2	49120212	0.699000	0.27786	0.272000	0.24630	0.715000	0.41141	0.763000	0.26517	0.217000	0.20800	0.655000	0.94253	GAG		0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3		NM_152428		19	139	0	0	0	0.008871	0	19	139		
BICC1	80114	broad.mit.edu	37	10	60273078	60273078	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:60273078G>A	ENST00000373886.3	+	1	179	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	59					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E59K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAAGAAACTTGAGGCCATGTT	0.657																																						uc001jki.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(175-177)GAG>AAG		bicaudal C homolog 1							47.0	43.0	44.0					10																	60273078		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60273078G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.175G>A	10.37:g.60273078G>A	ENSP00000362993:p.Glu59Lys						p.E59K	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			1	175	+			59						Missense_Mutation	SNP	ENST00000373886.3	37	c.175G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.015384	0.54468	.	.	ENSG00000122870	ENST00000373886	T	0.39406	1.08	3.06	3.06	0.35304	K Homology (1);	0.000000	0.56097	U	0.000030	T	0.59729	0.2215	M	0.76170	2.325	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60870	-0.7177	10	0.36615	T	0.2	-8.7965	12.3312	0.55041	0.0:0.0:1.0:0.0	.	59	Q9H694	BICC1_HUMAN	K	59	ENSP00000362993:E59K	ENSP00000362993:E59K	E	+	1	0	BICC1	59943084	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	8.080000	0.89510	1.699000	0.51192	0.443000	0.29094	GAG		0.657	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2		NM_025044		20	34	0	0	0	0.012319	0	20	34		
HK1	3098	broad.mit.edu	37	10	71144211	71144211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:71144211G>A	ENST00000359426.6	+	11	1797	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	HK1_ENST00000360289.2_Missense_Mutation_p.E553K|HK1_ENST00000448642.2_Missense_Mutation_p.E600K|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.E564K|HK1_ENST00000404387.2_Missense_Mutation_p.E569K	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	565	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.E569K(1)|p.E564K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CATTCCTATTGAAATCATGCA	0.498																																						uc001jpl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1693-1695)GAA>AAA		hexokinase 1 isoform HKI							134.0	117.0	123.0					10																	71144211		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71144211G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1693G>A	10.37:g.71144211G>A	ENSP00000352398:p.Glu565Lys					HK1_uc001jpg.3_Missense_Mutation_p.E553K|HK1_uc001jph.3_Missense_Mutation_p.E569K|HK1_uc001jpi.3_Missense_Mutation_p.E569K|HK1_uc001jpj.3_Missense_Mutation_p.E600K|HK1_uc001jpk.3_Missense_Mutation_p.E564K|HK1_uc009xqd.2_Missense_Mutation_p.E443K	p.E565K	NM_000188	NP_000179	P19367	HXK1_HUMAN			11	1794	+			565			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1693G>A	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111774	0.94339	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99032	-5.35;-5.35;-5.35;-5.35;-5.35	5.77	4.83	0.62350	Hexokinase, N-terminal (1);	0.133941	0.64402	D	0.000003	D	0.98598	0.9531	M	0.78801	2.425	0.80722	D	1	B;B;P;P;P;B	0.47545	0.35;0.35;0.897;0.665;0.472;0.393	B;B;P;P;B;B	0.48114	0.247;0.133;0.567;0.547;0.33;0.144	D	0.98779	1.0731	10	0.51188	T	0.08	-3.7646	15.829	0.78736	0.0:0.0:0.8634:0.1366	.	565;565;564;600;569;553	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	K	553;600;569;564;565;565	ENSP00000353433:E553K;ENSP00000402103:E600K;ENSP00000384774:E569K;ENSP00000298649:E564K;ENSP00000352398:E565K	ENSP00000298649:E564K	E	+	1	0	HK1	70814217	1.000000	0.71417	0.673000	0.29887	0.986000	0.74619	6.804000	0.75186	2.729000	0.93468	0.650000	0.86243	GAA		0.498	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188		34	91	0	0	0	0.013726	0	34	91		
PRF1	5551	broad.mit.edu	37	10	72358051	72358051	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:72358051C>T	ENST00000441259.1	-	3	1586	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	PRF1_ENST00000373209.2_Missense_Mutation_p.G476R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	476	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.G476R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCAGGGGCCCCCCTGTGGCC	0.607			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NaN	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1426-1428)GGG>AGG		perforin 1 precursor							84.0	95.0	91.0					10																	72358051		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358051C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1426G>A	10.37:g.72358051C>T	ENSP00000398568:p.Gly476Arg					PRF1_uc001jrf.3_Missense_Mutation_p.G476R	p.G476R	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1587	-			476			C2.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1426G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846711	0.51164	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.95342	-3.68;-3.68	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.327283	0.36268	N	0.002686	D	0.91942	0.7448	L	0.45422	1.42	0.20821	N	0.999842	P	0.43633	0.813	B	0.38712	0.28	D	0.87185	0.2230	10	0.49607	T	0.09	-30.566	17.9177	0.88957	0.0:1.0:0.0:0.0	.	476	P14222	PERF_HUMAN	R	476	ENSP00000362305:G476R;ENSP00000398568:G476R	ENSP00000316746:G476R	G	-	1	0	PRF1	72028057	0.000000	0.05858	0.116000	0.21606	0.925000	0.55904	-0.078000	0.11375	2.828000	0.97474	0.655000	0.94253	GGG		0.607	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2		NM_005041		29	82	0	0	0	0.008361	0	29	82		
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:75609037G>A	ENST00000351293.3	-	6	453	c.396C>T	c.(394-396)atC>atT	p.I132I	CAMK2G_ENST00000423381.1_Silent_p.I132I|CAMK2G_ENST00000372765.1_Silent_p.I132I|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I132I|CAMK2G_ENST00000322635.3_Silent_p.I132I|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000305762.7_Silent_p.I132I|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.I132I	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.I132I(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CCCTGTGGACGATGTCATGCT	0.522											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jvv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)|stomach(1)	2						c.(370-372)ATC>ATT		calcium/calmodulin-dependent protein kinase II							124.0	99.0	108.0					10																	75609037		2203	4300	6503	SO:0001819	synonymous_variant	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75609037G>A	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.396C>T	10.37:g.75609037G>A			OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron	p.I124I	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			6	496	-	Prostate(51;0.0112)		132			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000351293.3	37	c.372C>T	CCDS7336.1																																																																																				0.522	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169		6	23	0	0	0	0.00308	0	6	23		
BTAF1	9044	broad.mit.edu	37	10	93719635	93719635	+	Missense_Mutation	SNP	G	G	A	rs112687582		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:93719635G>A	ENST00000265990.6	+	10	1392	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	362					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E362K(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGTTTCTGATGAAGTAAGTAT	0.348																																						uc001khr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1084-1086)GAA>AAA		BTAF1 RNA polymerase II, B-TFIID transcription							119.0	115.0	117.0					10																	93719635		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93719635G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1084G>A	10.37:g.93719635G>A	ENSP00000265990:p.Glu362Lys					BTAF1_uc009xua.1_RNA|BTAF1_uc001khs.1_Missense_Mutation_p.E32K	p.E362K	NM_003972	NP_003963	O14981	BTAF1_HUMAN			10	1182	+		Colorectal(252;0.0846)	362					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1084G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530787	0.85706	.	.	ENSG00000095564	ENST00000265990	T	0.64618	-0.11	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	L	0.52759	1.655	0.80722	D	1	P	0.41597	0.756	B	0.36134	0.218	T	0.61138	-0.7123	10	0.42905	T	0.14	-1.4433	19.3054	0.94161	0.0:0.0:1.0:0.0	.	362	O14981	BTAF1_HUMAN	K	362	ENSP00000265990:E362K	ENSP00000265990:E362K	E	+	1	0	BTAF1	93709615	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.782000	0.99034	2.568000	0.86640	0.650000	0.86243	GAA		0.348	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		41	80	0	0	0	0.007835	0	41	80		
IDE	3416	broad.mit.edu	37	10	94267358	94267358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:94267358G>C	ENST00000265986.6	-	9	1275	c.1219C>G	c.(1219-1221)Caa>Gaa	p.Q407E		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	407					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.Q407E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	ACCCATTCTTGAGGTCCTTCT	0.328																																						uc001kia.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1219-1221)CAA>GAA		insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						97.0	103.0	101.0					10																	94267358		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94267358G>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1219C>G	10.37:g.94267358G>C	ENSP00000265986:p.Gln407Glu						p.Q407E	NM_004969	NP_004960	P14735	IDE_HUMAN			9	1295	-			407					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.1219C>G	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001651	0.54254	.	.	ENSG00000119912	ENST00000265986	T	0.07444	3.19	5.27	5.27	0.74061	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.45422	1.42	0.80722	D	1	P	0.39424	0.673	B	0.41723	0.365	T	0.19353	-1.0308	10	0.18710	T	0.47	-15.209	19.2497	0.93919	0.0:0.0:1.0:0.0	.	407	P14735	IDE_HUMAN	E	407	ENSP00000265986:Q407E	ENSP00000265986:Q407E	Q	-	1	0	IDE	94257338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.615000	0.88500	0.557000	0.71058	CAA		0.328	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1		NM_004969		33	172	0	0	0	0.013726	0	33	172		
EXOC6	54536	broad.mit.edu	37	10	94757311	94757311	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:94757311G>C	ENST00000260762.6	+	19	2048	c.2034G>C	c.(2032-2034)gaG>gaC	p.E678D	EXOC6_ENST00000443748.2_Missense_Mutation_p.E575D|EXOC6_ENST00000371552.4_Missense_Mutation_p.E673D|EXOC6_ENST00000371547.4_Missense_Mutation_p.E694D	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	678					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.E673D(1)|p.E678D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TGGACAGTGAGTTAAAACAAA	0.388																																						uc001kig.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(2032-2034)GAG>GAC		SEC15-like 1 isoform a							139.0	131.0	134.0					10																	94757311		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94757311G>C	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2034G>C	10.37:g.94757311G>C	ENSP00000260762:p.Glu678Asp					EXOC6_uc010qnr.1_Missense_Mutation_p.E694D|EXOC6_uc001kie.2_Missense_Mutation_p.E673D|EXOC6_uc009xub.2_Missense_Mutation_p.E677D|EXOC6_uc009xuc.2_Missense_Mutation_p.E575D|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.E252D	p.E678D	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN			19	2100	+		Colorectal(252;0.123)	678					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.2034G>C	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546396	0.13312	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	4.99	0.819	0.18785	.	0.098655	0.64402	D	0.000002	T	0.14614	0.0353	N	0.17345	0.48	0.58432	D	0.999991	B;B;B;B;B;B	0.20671	0.004;0.047;0.04;0.012;0.01;0.005	B;B;B;B;B;B	0.28465	0.011;0.09;0.075;0.075;0.042;0.042	T	0.09271	-1.0682	10	0.16896	T	0.51	-15.1796	4.0489	0.09786	0.512:0.0:0.3194:0.1686	.	694;575;670;631;678;673	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	D	694;673;575;678;27	ENSP00000360602:E694D;ENSP00000360607:E673D;ENSP00000396206:E575D;ENSP00000260762:E678D;ENSP00000398982:E27D	ENSP00000260762:E678D	E	+	3	2	EXOC6	94747291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.104000	0.31074	0.189000	0.20188	0.650000	0.86243	GAG		0.388	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2		NM_019053		10	81	0	0	0	0.006214	0	10	81		
ALDH18A1	5832	broad.mit.edu	37	10	97376261	97376261	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:97376261G>A	ENST00000371224.2	-	13	1715	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	ALDH18A1_ENST00000371221.3_Silent_p.I524I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	526	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.I526I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TGACTCCATGGATTGAGAGAG	0.547																																						uc001kkz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1576-1578)ATC>ATT		pyrroline-5-carboxylate synthetase isoform 1	L-Glutamic Acid(DB00142)						59.0	44.0	49.0					10																	97376261		2202	4300	6502	SO:0001819	synonymous_variant	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97376261G>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1578C>T	10.37:g.97376261G>A						ALDH18A1_uc001kky.2_Silent_p.I524I|ALDH18A1_uc010qog.1_Silent_p.I415I|ALDH18A1_uc010qoh.1_Silent_p.I314I	p.I526I	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	13	1820	-		Colorectal(252;0.0402)	526			Gamma-glutamyl phosphate reductase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	c.1578C>T	CCDS7443.1																																																																																				0.547	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1		NM_002860		4	3	0	0	0	0.009096	0	4	3		
DNTT	1791	broad.mit.edu	37	10	98078150	98078150	+	Missense_Mutation	SNP	C	C	T	rs554084818		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:98078150C>T	ENST00000371174.2	+	2	347	c.245C>T	c.(244-246)tCg>tTg	p.S82L	DNTT_ENST00000419175.1_Missense_Mutation_p.S82L			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	82	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S82L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACTCGGGTTCGGATGTTCTG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		23674	0.0		0.001	False		,,,				2504	0.0					uc001kmf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(244-246)TCG>TTG		terminal deoxynucleotidyltransferase isoform 1							178.0	175.0	176.0					10																	98078150		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98078150C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.245C>T	10.37:g.98078150C>T	ENSP00000360216:p.Ser82Leu					DNTT_uc001kmg.2_Missense_Mutation_p.S82L	p.S82L	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	2	415	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	82			BRCT.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.245C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224198	0.39300	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.44083	0.93;0.93	5.62	4.7	0.59300	BRCT (4);	0.396471	0.26489	N	0.024083	T	0.43055	0.1230	M	0.67953	2.075	0.23304	N	0.997949	B;B	0.18968	0.026;0.032	B;B	0.21546	0.021;0.035	T	0.33394	-0.9870	10	0.35671	T	0.21	-7.0591	13.4817	0.61338	0.1576:0.8423:0.0:0.0	.	82;82	P04053-2;P04053	.;TDT_HUMAN	L	82	ENSP00000401169:S82L;ENSP00000360216:S82L	ENSP00000360216:S82L	S	+	2	0	DNTT	98068140	0.000000	0.05858	0.035000	0.18076	0.667000	0.39255	0.712000	0.25779	1.341000	0.45600	0.563000	0.77884	TCG		0.473	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088		42	251	0	0	0	0.010771	0	42	251		
ARHGAP19	84986	broad.mit.edu	37	10	99023225	99023225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:99023225C>T	ENST00000358531.4	-	4	593	c.565G>A	c.(565-567)Gag>Aag	p.E189K	ARHGAP19_ENST00000355366.5_Missense_Mutation_p.E180K|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.E180K|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.E189K|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.E189K|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.E189K	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	189	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E8K(1)|p.E189K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AGCAGAGGCTCCGGCAACTCT	0.403																																						uc001knb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(565-567)GAG>AAG		Rho GTPase activating protein 19							131.0	120.0	124.0					10																	99023225		2203	4300	6503	SO:0001583	missense	84986				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity	g.chr10:99023225C>T	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.565G>A	10.37:g.99023225C>T	ENSP00000351333:p.Glu189Lys					ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.E180K|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.E189K|ARHGAP19_uc009xvk.2_Intron	p.E189K	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)	4	594	-		Colorectal(252;0.0854)	189			Rho-GAP.		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.565G>A	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	37	5.990371	0.97179	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.74	5.74	0.90152	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	U	0.000000	T	0.79275	0.4418	H	0.95079	3.62	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;P	0.71656	0.968;0.974;0.904	D	0.85059	0.0933	10	0.87932	D	0	-15.8739	19.9124	0.97029	0.0:1.0:0.0:0.0	.	189;189;180	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	K	189;189;180;189;180;8;189	ENSP00000414774:E189K;ENSP00000324468:E189K;ENSP00000347526:E180K;ENSP00000351333:E189K;ENSP00000360066:E180K;ENSP00000351058:E189K	ENSP00000324468:E189K	E	-	1	0	ARHGAP19	99013215	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.675000	0.84002	2.707000	0.92482	0.563000	0.77884	GAG		0.403	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2		NM_032900		58	169	0	0	0	0.01441	0	58	169		
ENTPD7	57089	broad.mit.edu	37	10	101445633	101445633	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:101445633G>A	ENST00000370489.4	+	6	811	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	211						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V211V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AAGCAGAAGTGATCTCTGGGA	0.468																																						uc001kqa.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(631-633)GTG>GTA		ectonucleoside triphosphate diphosphohydrolase							90.0	87.0	88.0					10																	101445633		2203	4300	6503	SO:0001819	synonymous_variant	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101445633G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.633G>A	10.37:g.101445633G>A						ENTPD7_uc009xwl.2_Silent_p.V213V	p.V211V	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	6	811	+		Colorectal(252;0.234)	211			Vesicular (Potential).		B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	c.633G>A	CCDS7480.1																																																																																				0.468	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2		NM_020354		39	57	0	0	0	0.00623	0	39	57		
PDZD7	79955	broad.mit.edu	37	10	102777862	102777862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:102777862C>T	ENST00000370215.3	-	9	1741	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	506						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E506K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TTACCTTTCTCTATGTCCAGG	0.587																																						uc001kso.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1516-1518)GAG>AAG		PDZ domain containing 7							123.0	110.0	114.0					10																	102777862		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102777862C>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1516G>A	10.37:g.102777862C>T	ENSP00000359234:p.Glu506Lys					PDZD7_uc001ksn.2_Missense_Mutation_p.E506K	p.E506K	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	9	1731	-			506					D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.1516G>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651435	0.47362	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11495	2.77	4.12	4.12	0.48240	.	48.895800	0.01443	N	0.015192	T	0.29061	0.0722	L	0.34521	1.04	0.38937	D	0.958077	P;D	0.71674	0.9;0.998	B;D	0.78314	0.38;0.991	T	0.01212	-1.1417	10	0.72032	D	0.01	.	14.3404	0.66622	0.0:1.0:0.0:0.0	.	506;506	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	K	506	ENSP00000359234:E506K	ENSP00000359234:E506K	E	-	1	0	PDZD7	102767852	0.974000	0.33945	0.956000	0.39512	0.040000	0.13550	2.272000	0.43373	2.117000	0.64856	0.555000	0.69702	GAG		0.587	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1		NM_024895		9	88	0	0	0	0.010729	0	9	88		
FGF8	2253	broad.mit.edu	37	10	103531247	103531247	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103531247C>T	ENST00000344255.3	-	5	383	c.384G>A	c.(382-384)atG>atA	p.M128I	FGF8_ENST00000320185.2_Missense_Mutation_p.M139I|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.M99I|FGF8_ENST00000347978.2_Missense_Mutation_p.M110I			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	128					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.M139I(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCTTCTTGTTCATGCAGATGT	0.607																																						uc001ktp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(382-384)ATG>ATA		fibroblast growth factor 8 isoform E precursor							123.0	104.0	111.0					10																	103531247		2203	4300	6503	SO:0001583	missense	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103531247C>T	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.384G>A	10.37:g.103531247C>T	ENSP00000340039:p.Met128Ile					FGF8_uc001ktq.1_Missense_Mutation_p.M139I|FGF8_uc001ktr.1_Missense_Mutation_p.M110I|FGF8_uc001kts.1_Missense_Mutation_p.M99I|FGF8_uc009xwr.1_Missense_Mutation_p.M35I	p.M128I	NM_033164	NP_149354	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	554	-		Colorectal(252;0.122)	128					A1A514|Q14915|Q15766	Missense_Mutation	SNP	ENST00000344255.3	37	c.384G>A	CCDS7517.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.597774	0.46318	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.69	4.69	0.59074	.	0.105804	0.64402	D	0.000002	D	0.86435	0.5932	M	0.78049	2.395	0.80722	D	1	B;B;B;B	0.30973	0.054;0.116;0.076;0.302	B;B;B;B	0.39299	0.138;0.267;0.079;0.296	D	0.86835	0.2013	10	0.52906	T	0.07	-2.3993	17.6485	0.88155	0.0:1.0:0.0:0.0	.	99;110;139;128	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	I	128;139;99;110	ENSP00000340039:M128I;ENSP00000321797:M139I;ENSP00000344306:M99I;ENSP00000321945:M110I	ENSP00000321797:M139I	M	-	3	0	FGF8	103521237	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.815000	0.86186	2.171000	0.68590	0.556000	0.70494	ATG		0.607	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1		NM_006119, NM_033165		16	30	0	0	0	0.00499	0	16	30		
PPRC1	23082	broad.mit.edu	37	10	103900177	103900177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103900177G>A	ENST00000278070.2	+	5	1951	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.D638N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D638N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTCCTGGCTGACTCAGCAGC	0.562																																						uc001kum.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1912-1914)GAC>AAC		peroxisome proliferator-activated receptor							98.0	89.0	92.0					10																	103900177		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900177G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1912G>A	10.37:g.103900177G>A	ENSP00000278070:p.Asp638Asn					PPRC1_uc001kun.2_Missense_Mutation_p.D518N|PPRC1_uc010qqj.1_Missense_Mutation_p.D638N|PPRC1_uc009xxa.2_RNA	p.D638N	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1951	+		Colorectal(252;0.122)	638					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1912G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010898	0.54361	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.53206	0.7;0.63	5.04	3.14	0.36123	.	0.413316	0.20802	N	0.085406	T	0.35624	0.0938	L	0.29908	0.895	0.32101	N	0.590578	B;B;B	0.15141	0.007;0.012;0.007	B;B;B	0.14578	0.005;0.011;0.005	T	0.42327	-0.9458	10	0.56958	D	0.05	.	11.5194	0.50543	0.1223:0.0:0.8777:0.0	.	638;518;638	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	638	ENSP00000278070:D638N;ENSP00000399743:D638N	ENSP00000278070:D638N	D	+	1	0	PPRC1	103890167	0.571000	0.26659	0.080000	0.20451	0.464000	0.32679	3.298000	0.51818	0.796000	0.33947	0.561000	0.74099	GAC		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		18	69	0	0	0	0.006122	0	18	69		
PPRC1	23082	broad.mit.edu	37	10	103900464	103900464	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103900464G>A	ENST00000278070.2	+	5	2238	c.2199G>A	c.(2197-2199)ctG>ctA	p.L733L	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Silent_p.L733L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	733					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L733L(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGATTCTCTGAAAATTGAAA	0.547																																						uc001kum.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2197-2199)CTG>CTA		peroxisome proliferator-activated receptor							108.0	113.0	112.0					10																	103900464		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900464G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2199G>A	10.37:g.103900464G>A						PPRC1_uc001kun.2_Silent_p.L613L|PPRC1_uc010qqj.1_Silent_p.L733L|PPRC1_uc009xxa.2_RNA	p.L733L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2238	+		Colorectal(252;0.122)	733					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.2199G>A	CCDS7529.1																																																																																				0.547	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		28	84	0	0	0	0.008361	0	28	84		
PPRC1	23082	broad.mit.edu	37	10	103901412	103901412	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:103901412G>A	ENST00000278070.2	+	5	3186	c.3147G>A	c.(3145-3147)caG>caA	p.Q1049Q	PPRC1_ENST00000370012.1_Silent_p.Q16Q|PPRC1_ENST00000413464.2_Silent_p.Q1049Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1049	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q1049Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGCTCCTCAGACAGAGCCTA	0.582																																						uc001kum.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3145-3147)CAG>CAA		peroxisome proliferator-activated receptor							84.0	67.0	73.0					10																	103901412		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901412G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3147G>A	10.37:g.103901412G>A						PPRC1_uc001kun.2_Silent_p.Q929Q|PPRC1_uc010qqj.1_Silent_p.Q1049Q|PPRC1_uc009xxa.2_RNA	p.Q1049Q	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	3186	+		Colorectal(252;0.122)	1049			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.3147G>A	CCDS7529.1																																																																																				0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		4	26	0	0	0	0.009096	0	4	26		
RPEL1	729020	broad.mit.edu	37	10	105006301	105006301	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:105006301T>C	ENST00000441178.2	+	1	658	c.548T>C	c.(547-549)gTc>gCc	p.V183A		NM_001143909.1	NP_001137381.1												p.V183A(1)									TCTGACACTGTCCATAAGTGT	0.448																																						uc009xxi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(547-549)GTC>GCC		rcRPE protein							174.0	140.0	151.0					10																	105006301		692	1591	2283	SO:0001583	missense	729020				carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity	g.chr10:105006301T>C																												ENST00000441178.2:c.548T>C	10.37:g.105006301T>C	ENSP00000476672:p.Val183Ala					uc001kwr.2_Intron	p.V183A	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN			1	658	+			183						Missense_Mutation	SNP	ENST00000441178.2	37	c.548T>C																																																																																					0.448	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050120.2				22	51	0	0	0	0.010504	0	22	51		
CFAP43	80217	broad.mit.edu	37	10	105990389	105990389	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:105990389A>G	ENST00000278064.2	-	2	393	c.68T>C	c.(67-69)gTa>gCa	p.V23A	WDR96_ENST00000369720.1_Missense_Mutation_p.V23A|WDR96_ENST00000369719.1_Missense_Mutation_p.V23A|WDR96_ENST00000357060.3_Missense_Mutation_p.V93A|WDR96_ENST00000428666.1_Missense_Mutation_p.V93A														p.V93A(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGCTGTATACGTAGATGAG	0.428																																						uc001kxw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(277-279)GTA>GCA		hypothetical protein LOC80217							109.0	103.0	105.0					10																	105990389		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105990389A>G																												ENST00000278064.2:c.68T>C	10.37:g.105990389A>G	ENSP00000278064:p.Val23Ala					C10orf79_uc001kxx.3_Missense_Mutation_p.V93A|C10orf79_uc001kxy.1_Missense_Mutation_p.V93A|C10orf79_uc001kxz.2_Missense_Mutation_p.V93A	p.V93A	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	2	394	-		Colorectal(252;0.178)	93						Missense_Mutation	SNP	ENST00000278064.2	37	c.278T>C		.	.	.	.	.	.	.	.	.	.	A	14.99	2.699112	0.48307	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.74209	2.61;2.61;2.61;2.61;-0.82	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.40640	N	0.001059	T	0.66197	0.2765	L	0.39898	1.24	0.21184	N	0.999763	P;B;B	0.36616	0.561;0.024;0.108	B;B;B	0.34779	0.189;0.045;0.036	T	0.62015	-0.6943	10	0.44086	T	0.13	.	14.6044	0.68466	1.0:0.0:0.0:0.0	.	93;93;93	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	A	93;93;23;23;23	ENSP00000349568:V93A;ENSP00000400289:V93A;ENSP00000278064:V23A;ENSP00000358734:V23A;ENSP00000358733:V23A	ENSP00000278064:V23A	V	-	2	0	WDR96	105980379	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	8.082000	0.89513	1.857000	0.53885	0.397000	0.26171	GTA		0.428	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1				51	103	0	0	0	0.01441	0	51	103		
ADRA2A	150	broad.mit.edu	37	10	112839122	112839122	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:112839122C>T	ENST00000280155.2	+	1	2333	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	441					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.L441L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGAAGATCCTCTGTCGGGGGG	0.592																																					Esophageal Squamous(173;605 2658 7278 49362)	uc001kzo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1366-1368)CTC>CTT		alpha-2A-adrenergic receptor	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)						80.0	82.0	81.0					10																	112839122		2203	4300	6503	SO:0001819	synonymous_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112839122C>T	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1368C>T	10.37:g.112839122C>T							p.L456L	NM_000681	NP_000672	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	2333	+		Breast(234;0.0735)|Lung NSC(174;0.238)	441			Cytoplasmic (By similarity).		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	c.1368C>T	CCDS7569.2																																																																																				0.592	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2		NM_000681		14	77	0	0	0	0.004007	0	14	77		
TACC2	10579	broad.mit.edu	37	10	123844346	123844346	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:123844346G>A	ENST00000369005.1	+	4	2671	c.2331G>A	c.(2329-2331)ggG>ggA	p.G777G	TACC2_ENST00000515603.1_Silent_p.G777G|TACC2_ENST00000334433.3_Silent_p.G777G|TACC2_ENST00000515273.1_Silent_p.G777G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.G777G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	777					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.G777G(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTCATGCTGGGGTGCCACATC	0.632																																						uc001lfv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2329-2331)GGG>GGA		transforming, acidic coiled-coil containing							53.0	59.0	57.0					10																	123844346		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844346G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2331G>A	10.37:g.123844346G>A						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.G777G|TACC2_uc010qtv.1_Silent_p.G777G	p.G777G	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	2691	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	777					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2331G>A	CCDS7626.1																																																																																				0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				40	64	0	0	0	0.009718	0	40	64		
DOCK1	1793	broad.mit.edu	37	10	129245729	129245729	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:129245729G>A	ENST00000280333.6	+	51	5531	c.5422G>A	c.(5422-5424)Gtg>Atg	p.V1808M		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1808	Interaction with NCK2 second and third SH3 domain (minor).				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1808M(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAAAGGCAGCGTGGCAGATTA	0.572																																						uc001ljt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(5422-5424)GTG>ATG		dedicator of cytokinesis 1							48.0	54.0	52.0					10																	129245729		2026	4182	6208	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129245729G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5422G>A	10.37:g.129245729G>A	ENSP00000280333:p.Val1808Met					DOCK1_uc010qun.1_Missense_Mutation_p.V1829M|DOCK1_uc009yaq.2_Missense_Mutation_p.R807H|DOCK1_uc001ljw.1_5'Flank	p.V1808M	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	51	5486	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1808			Interaction with NCK2 second and third SH3 domain (minor).		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.5422G>A		.	.	.	.	.	.	.	.	.	.	G	10.54	1.378637	0.24944	.	.	ENSG00000150760	ENST00000280333	T	0.03580	3.88	5.22	2.89	0.33648	.	0.449370	0.25253	N	0.032020	T	0.02230	0.0069	N	0.08118	0	0.23677	N	0.997134	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.44952	-0.9294	10	0.40728	T	0.16	.	9.2641	0.37630	0.8495:0.0:0.1505:0.0	.	1808;1808	B2RUU3;Q14185	.;DOCK1_HUMAN	M	1808	ENSP00000280333:V1808M	ENSP00000280333:V1808M	V	+	1	0	DOCK1	129135719	0.838000	0.29461	0.422000	0.26621	0.380000	0.30137	1.735000	0.38176	0.395000	0.25257	-0.302000	0.09304	GTG		0.572	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380		7	15	0	0	0	0.00308	0	7	15		
MKI67	4288	broad.mit.edu	37	10	129913744	129913744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:129913744C>T	ENST00000368654.3	-	7	1303	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	310					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E310K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCTCTTGTTCAGGTGAAGCA	0.572																																						uc001lke.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(928-930)GAA>AAA		antigen identified by monoclonal antibody Ki-67							79.0	81.0	80.0					10																	129913744		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913744C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.928G>A	10.37:g.129913744C>T	ENSP00000357643:p.Glu310Lys					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.E310K	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1123	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	310					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.928G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364792	0.24684	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01246	5.11	3.59	0.0345	0.14184	.	2.416090	0.01505	N	0.017673	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.46400	-0.9194	10	0.87932	D	0	.	5.724	0.18002	0.0:0.5198:0.0:0.4802	.	310	P46013	KI67_HUMAN	K	310	ENSP00000357643:E310K	ENSP00000357643:E310K	E	-	1	0	MKI67	129803734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	0.016000	0.14998	-0.140000	0.14226	GAA		0.572	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		22	110	0	0	0	0.014323	0	22	110		
PWWP2B	170394	broad.mit.edu	37	10	134219559	134219559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:134219559G>A	ENST00000305233.5	+	2	1614	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	519	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.							p.G519R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAAGGAGGACGGAGAGCCGTC	0.537																																						uc001lll.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1555-1557)GGA>AGA		PWWP domain containing 2 isoform 1							171.0	174.0	173.0					10																	134219559		2201	4300	6501	SO:0001583	missense	170394							g.chr10:134219559G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1555G>A	10.37:g.134219559G>A	ENSP00000306324:p.Gly519Arg					PWWP2B_uc009ybe.2_Intron	p.G519R	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1584	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	519			PWWP.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1555G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146350	0.77888	.	.	ENSG00000171813	ENST00000305233	T	0.58652	0.32	4.28	4.28	0.50868	PWWP (2);	0.174900	0.35708	U	0.003026	T	0.72293	0.3442	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.76085	-0.3088	10	0.87932	D	0	.	16.2808	0.82678	0.0:0.0:1.0:0.0	.	519	Q6NUJ5	PWP2B_HUMAN	R	519	ENSP00000306324:G519R	ENSP00000306324:G519R	G	+	1	0	PWWP2B	134069549	0.995000	0.38212	0.997000	0.53966	0.389000	0.30415	3.333000	0.52090	2.396000	0.81511	0.563000	0.77884	GGA		0.537	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3		NM_138499		16	84	0	0	0	0.004007	0	16	84		
MTG1	92170	broad.mit.edu	37	10	135213089	135213089	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr10:135213089C>T	ENST00000317502.6	+	6	527	c.477C>T	c.(475-477)ctC>ctT	p.L159L	RP11-108K14.8_ENST00000468317.2_Silent_p.L164L|MTG1_ENST00000477902.2_Silent_p.L118L	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	159	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L159L(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AGTCCTCCCTCATCAACTCCC	0.622																																						uc001lnd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(475-477)CTC>CTT		GTP_binding protein precursor							126.0	112.0	117.0					10																	135213089		2203	4300	6503	SO:0001819	synonymous_variant	92170					mitochondrion	GTP binding|protein binding	g.chr10:135213089C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.477C>T	10.37:g.135213089C>T						MTG1_uc010qve.1_Intron	p.L159L	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	6	581	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	159			G.		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	c.477C>T	CCDS31320.1																																																																																				0.622	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1		NM_138384		27	55	0	0	0	0.005443	0	27	55		
MUC6	4588	broad.mit.edu	37	11	1025893	1025893	+	Nonsense_Mutation	SNP	G	G	C	rs199821404		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:1025893G>C	ENST00000421673.2	-	22	2761	c.2711C>G	c.(2710-2712)tCa>tGa	p.S904*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	904	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S904*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGGCTGTGAGTCGTTGAC	0.652																																						uc001lsw.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)	1						c.(2710-2712)TCA>TGA		mucin 6, gastric							47.0	52.0	50.0					11																	1025893		2093	4207	6300	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025893G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2711C>G	11.37:g.1025893G>C	ENSP00000406861:p.Ser904*						p.S904*	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	22	2762	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	904			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.2711C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	38	7.094645	0.98059	.	.	ENSG00000184956	ENST00000421673	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8142	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	904	.	ENSP00000406861:S904X	S	-	2	0	MUC6	1015893	0.156000	0.22821	0.004000	0.12327	0.102000	0.19082	2.937000	0.48979	2.032000	0.59987	0.313000	0.20887	TCA		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540		6	17	0	0	0	0.001168	0	6	17		
OR51A7	119687	broad.mit.edu	37	11	4928820	4928821	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:4928820_4928821CC>TT	ENST00000359350.4	+	1	221_222	c.221_222CC>TT	c.(220-222)tCC>tTT	p.S74F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S74F(1)|p.S74S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCCTGTCCCTCTCCTCCC	0.46																																						uc010qyq.1		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(220-222)TCC>TTT		olfactory receptor, family 51, subfamily A,																																				SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928820_4928821CC>TT	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	Exception_encountered	11.37:g.4928820_4928821delinsTT	ENSP00000352305:p.Ser74Phe						p.S74F	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	221_222	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	74			Helical; Name=2; (Potential).		Q6IFH8	Missense_Mutation	DNP	ENST00000359350.4	37	c.221_222CC>TT	CCDS31364.1																																																																																				0.460	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1		NM_001004749		7	176	0	0	0	0.004672	0	7	176		
OR51Q1	390061	broad.mit.edu	37	11	5444186	5444186	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:5444186C>G	ENST00000300778.4	+	1	846	c.756C>G	c.(754-756)gtC>gtG	p.V252V	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V252V(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCCTGGTCCTCTACATTC	0.502																																						uc010qzd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(754-756)GTC>GTG		olfactory receptor, family 51, subfamily Q,							138.0	113.0	122.0					11																	5444186		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444186C>G	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.756C>G	11.37:g.5444186C>G						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.V252V	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	756	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	252			Helical; Name=6; (Potential).		B2RNN1	Silent	SNP	ENST00000300778.4	37	c.756C>G	CCDS31381.1																																																																																				0.502	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1		NM_001004757		16	110	0	0	0	0.006122	0	16	110		
SMPD1	6609	broad.mit.edu	37	11	6412757	6412757	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6412757C>G	ENST00000342245.4	+	2	630	c.462C>G	c.(460-462)agC>agG	p.S154R	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Missense_Mutation_p.S154R|SMPD1_ENST00000299397.3_Missense_Mutation_p.S154R|SMPD1_ENST00000527275.1_Missense_Mutation_p.S153R	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	152	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.S154R(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CAGTGCTGAGCCCATCTGAGG	0.572																																						uc001mcw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(460-462)AGC>AGG		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						66.0	57.0	60.0					11																	6412757		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412757C>G	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.462C>G	11.37:g.6412757C>G	ENSP00000340409:p.Ser154Arg					SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.S154R|SMPD1_uc009yew.2_Missense_Mutation_p.S153R	p.S154R	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	636	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	152			Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.462C>G	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202422	0.22121	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.11	3.21	0.36854	Saposin-like (2);Saposin B (2);	0.500691	0.22191	N	0.063363	D	0.91026	0.7177	L	0.39397	1.21	0.44843	D	0.997858	B;B;B	0.19200	0.002;0.034;0.006	B;B;B	0.21151	0.004;0.033;0.015	D	0.84113	0.0402	10	0.26408	T	0.33	.	8.636	0.33948	0.0:0.7607:0.1535:0.0857	.	153;154;152	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	R	154;154;154;153	ENSP00000299397:S154R;ENSP00000349203:S154R;ENSP00000340409:S154R;ENSP00000435350:S153R	ENSP00000299397:S154R	S	+	3	2	SMPD1	6369333	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.324000	0.33712	0.540000	0.28808	-0.145000	0.13849	AGC		0.572	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1		NM_000543		16	23	0	0	0	0.004007	0	16	23		
APBB1	322	broad.mit.edu	37	11	6432430	6432430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6432430G>C	ENST00000609360.1	-	2	247	c.148C>G	c.(148-150)Ctg>Gtg	p.L50V	APBB1_ENST00000389906.2_Missense_Mutation_p.L50V|APBB1_ENST00000299402.6_Missense_Mutation_p.L50V|APBB1_ENST00000311051.3_Missense_Mutation_p.L50V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	50					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.L50V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCGCTGCGCAGGTCCTTGGGT	0.697																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(148-150)CTG>GTG		amyloid beta A4 precursor protein-binding,							75.0	80.0	78.0					11																	6432430		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432430G>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.148C>G	11.37:g.6432430G>C	ENSP00000477213:p.Leu50Val					APBB1_uc001mdc.1_Missense_Mutation_p.L50V|APBB1_uc010rah.1_Intron	p.L50V	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	248	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	50					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.148C>G		.	.	.	.	.	.	.	.	.	.	G	13.10	2.136981	0.37728	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758	T;T;T	0.16897	2.32;2.32;2.31	4.21	3.29	0.37713	.	0.000000	0.45606	D	0.000349	T	0.11024	0.0269	N	0.19112	0.55	0.22933	N	0.998549	B	0.24576	0.106	B	0.20184	0.028	T	0.21861	-1.0233	10	0.72032	D	0.01	-6.8624	10.0314	0.42103	0.1031:0.0:0.8969:0.0	.	50	O00213-2	.	V	50	ENSP00000299402:L50V;ENSP00000311912:L50V;ENSP00000374556:L50V	ENSP00000299402:L50V	L	-	1	2	APBB1	6389006	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.027000	0.41078	0.905000	0.36596	0.393000	0.25936	CTG		0.697	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1		NM_001164		18	114	0	0	0	0.006122	0	18	114		
OR10A2	341276	broad.mit.edu	37	11	6891489	6891489	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:6891489C>A	ENST00000307322.4	+	1	566	c.504C>A	c.(502-504)agC>agA	p.S168R		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S168R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTGTGACAGCCCACCTGTGC	0.532																																						uc001meu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(502-504)AGC>AGA		olfactory receptor, family 10, subfamily A,							176.0	152.0	160.0					11																	6891489		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891489C>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.504C>A	11.37:g.6891489C>A	ENSP00000303862:p.Ser168Arg						p.S168R	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	504	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	168			Extracellular (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.504C>A	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	14.99	2.700728	0.48307	.	.	ENSG00000170790	ENST00000307322	T	0.37058	1.22	4.0	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.39064	0.1064	L	0.28556	0.865	0.26874	N	0.967681	D	0.89917	1.0	D	0.80764	0.994	T	0.09662	-1.0664	10	0.87932	D	0	.	3.2766	0.06901	0.2072:0.5715:0.0:0.2213	.	168	Q9H208	O10A2_HUMAN	R	168	ENSP00000303862:S168R	ENSP00000303862:S168R	S	+	3	2	OR10A2	6848065	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	-1.140000	0.03210	1.039000	0.40074	0.556000	0.70494	AGC		0.532	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1		NM_001004460		19	185	1	0	1.10923e-09	0.00278	1.14699e-09	19	185		
SBF2	81846	broad.mit.edu	37	11	9806738	9806738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:9806738G>A	ENST00000256190.8	-	37	5302	c.5165C>T	c.(5164-5166)tCc>tTc	p.S1722F	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1722					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S1722F(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTCCATTGGATGGGGAGAT	0.507																																						uc001mib.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(5164-5166)TCC>TTC		SET binding factor 2							152.0	122.0	132.0					11																	9806738		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9806738G>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5165C>T	11.37:g.9806738G>A	ENSP00000256190:p.Ser1722Phe					uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.S366F|SBF2_uc001mic.2_Missense_Mutation_p.S12F|uc001mie.3_Intron	p.S1722F	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	37	5303	-			1722					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.5165C>T	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655340	0.88056	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	T	0.13420	2.59	6.07	6.07	0.98685	.	0.297859	0.42964	D	0.000621	T	0.23965	0.0580	M	0.68952	2.095	0.58432	D	0.999993	P	0.48016	0.904	P	0.47044	0.535	T	0.03034	-1.1080	10	0.10636	T	0.68	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1722	Q86WG5	MTMRD_HUMAN	F	1722;110	ENSP00000256190:S1722F	ENSP00000256190:S1722F	S	-	2	0	SBF2	9763314	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.611000	0.82962	2.885000	0.99019	0.655000	0.94253	TCC		0.507	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2		NM_030962		13	66	0	0	0	0.013537	0	13	66		
MICAL2	9645	broad.mit.edu	37	11	12278388	12278388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:12278388C>G	ENST00000256194.4	+	24	3300	c.3012C>G	c.(3010-3012)ttC>ttG	p.F1004L	MICAL2_ENST00000537344.1_Missense_Mutation_p.F814L|MICAL2_ENST00000379612.3_Missense_Mutation_p.F778L|MICAL2_ENST00000527546.1_Missense_Mutation_p.F814L|MICAL2_ENST00000342902.5_Missense_Mutation_p.F983L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1004	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.F1004L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CGTGTTACTTCTGTAAGAAAC	0.557																																						uc001mjz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)	2						c.(3010-3012)TTC>TTG		microtubule associated monoxygenase, calponin							131.0	104.0	113.0					11																	12278388		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12278388C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3012C>G	11.37:g.12278388C>G	ENSP00000256194:p.Phe1004Leu					MICAL2_uc010rch.1_Missense_Mutation_p.F814L|MICAL2_uc001mka.2_Missense_Mutation_p.F1004L|MICAL2_uc010rci.1_Missense_Mutation_p.F983L|MICAL2_uc001mkb.2_Missense_Mutation_p.F778L|MICAL2_uc001mkc.2_Missense_Mutation_p.F757L|MICAL2_uc001mkd.2_Missense_Mutation_p.F586L|MICAL2_uc010rcj.1_Missense_Mutation_p.F216L|MICAL2_uc001mkf.2_RNA	p.F1004L	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	24	3300	+			1004			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3012C>G	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317873	0.60524	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.17	4.25	0.50352	Zinc finger, LIM-type (5);	0.063428	0.64402	D	0.000005	D	0.88676	0.6501	L	0.41356	1.27	0.30108	N	0.80679	P;P;D;D;D;D	0.62365	0.707;0.907;0.989;0.972;0.989;0.991	B;P;P;P;P;D	0.64506	0.367;0.648;0.761;0.877;0.761;0.926	D	0.84644	0.0697	10	0.32370	T	0.25	.	12.4524	0.55684	0.0:0.9171:0.0:0.0828	.	347;983;814;757;778;1004	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	L	814;347;1004;814;983;778	ENSP00000441689:F814L;ENSP00000256194:F1004L;ENSP00000433965:F814L;ENSP00000344894:F983L;ENSP00000368932:F778L	ENSP00000256194:F1004L	F	+	3	2	MICAL2	12234964	0.999000	0.42202	1.000000	0.80357	0.682000	0.39822	0.602000	0.24134	1.147000	0.42369	0.655000	0.94253	TTC		0.557	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		10	49	0	0	0	0.006214	0	10	49		
PRRG4	79056	broad.mit.edu	37	11	32858272	32858272	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:32858272G>C	ENST00000257836.3	+	3	425	c.172G>C	c.(172-174)Gag>Cag	p.E58Q		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	58	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E58Q(1)		large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ATTTGATCTGGAGCTCTTCAC	0.348																																						uc001mtx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(172-174)GAG>CAG		proline rich Gla (G-carboxyglutamic acid) 4							60.0	62.0	61.0					11																	32858272		2202	4299	6501	SO:0001583	missense	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32858272G>C	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.172G>C	11.37:g.32858272G>C	ENSP00000257836:p.Glu58Gln						p.E58Q	NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN			3	425	+	Breast(20;0.206)		58			Extracellular (Potential).|Gla.			Missense_Mutation	SNP	ENST00000257836.3	37	c.172G>C	CCDS7881.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450915	0.84209	.	.	ENSG00000135378	ENST00000257836	D	0.99567	-6.18	5.58	5.58	0.84498	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97864	1.0282	10	0.87932	D	0	-15.1627	19.1654	0.93555	0.0:0.0:1.0:0.0	.	58	Q9BZD6	TMG4_HUMAN	Q	58	ENSP00000257836:E58Q	ENSP00000257836:E58Q	E	+	1	0	PRRG4	32814848	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	9.178000	0.94855	2.622000	0.88805	0.462000	0.41574	GAG		0.348	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1		NM_024081		15	67	0	0	0	0.00245	0	15	67		
TRIM44	54765	broad.mit.edu	37	11	35684687	35684687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:35684687G>A	ENST00000299413.5	+	1	335	c.28G>A	c.(28-30)Gag>Aag	p.E10K	RP1-276E15.1_ENST00000525573.2_lincRNA	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	10						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E10K(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CGCGGCCTTCGAGGAACTGCC	0.716																																						uc001mwi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(28-30)GAG>AAG		DIPB protein							17.0	18.0	18.0					11																	35684687		2180	4273	6453	SO:0001583	missense	54765					intracellular	protein binding|zinc ion binding	g.chr11:35684687G>A	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.28G>A	11.37:g.35684687G>A	ENSP00000299413:p.Glu10Lys						p.E10K	NM_017583	NP_060053	Q96DX7	TRI44_HUMAN			1	335	+	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)	10					D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	c.28G>A	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179525	0.38511	.	.	ENSG00000166326	ENST00000299413	T	0.47869	0.83	4.45	0.076	0.14401	.	0.000000	0.35838	N	0.002953	T	0.24392	0.0591	N	0.24115	0.695	0.28292	N	0.923502	B	0.25312	0.123	B	0.12837	0.008	T	0.11641	-1.0579	10	0.87932	D	0	-8.6068	1.1251	0.01733	0.2064:0.1762:0.4365:0.1809	.	10	Q96DX7	TRI44_HUMAN	K	10	ENSP00000299413:E10K	ENSP00000299413:E10K	E	+	1	0	TRIM44	35641263	1.000000	0.71417	0.987000	0.45799	0.048000	0.14542	4.328000	0.59253	0.022000	0.15160	-0.142000	0.14014	GAG		0.716	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1		NM_017583		6	19	0	0	0	0.00308	0	6	19		
LRRC4C	57689	broad.mit.edu	37	11	40137629	40137629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:40137629C>T	ENST00000278198.2	-	2	2177	c.214G>A	c.(214-216)Gat>Aat	p.D72N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.D72N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D72N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D72N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	72	LRRNT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.D72N(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGATGCCATCCGGAACCTCA	0.527																																						uc001mxa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(214-216)GAT>AAT		netrin-G1 ligand precursor							105.0	91.0	96.0					11																	40137629		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137629C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.214G>A	11.37:g.40137629C>T	ENSP00000278198:p.Asp72Asn					LRRC4C_uc001mxc.1_Missense_Mutation_p.D68N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D68N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D68N	p.D72N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2178	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	72			LRRNT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.214G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010841	0.54361	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.29908	0.895	0.58432	D	0.999996	B	0.17667	0.023	B	0.15484	0.013	T	0.46076	-0.9217	10	0.30078	T	0.28	.	18.9442	0.92615	0.0:1.0:0.0:0.0	.	72	Q9HCJ2	LRC4C_HUMAN	N	72	ENSP00000278198:D72N;ENSP00000436976:D72N;ENSP00000437132:D72N;ENSP00000434761:D72N	ENSP00000278198:D72N	D	-	1	0	LRRC4C	40094205	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	6.089000	0.71384	2.719000	0.93026	0.650000	0.86243	GAT		0.527	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1		NM_020929		24	46	0	0	0	0.003954	0	24	46		
OR4A47	403253	broad.mit.edu	37	11	48510885	48510885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:48510885C>G	ENST00000446524.1	+	1	617	c.541C>G	c.(541-543)Ccc>Gcc	p.P181A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGACATGTATCCCTTATTGAA	0.443																																						uc010rhx.1		NaN																	1	Substitution - Missense(1)	p.P181L(1)	urinary_tract(1)	ovary(1)|skin(1)	2						c.(541-543)CCC>GCC		olfactory receptor, family 4, subfamily A,							167.0	159.0	162.0					11																	48510885		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510885C>G	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.541C>G	11.37:g.48510885C>G	ENSP00000412752:p.Pro181Ala						p.P181A	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	541	+			181			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.541C>G	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	7.958	0.746380	0.15710	.	.	ENSG00000237388	ENST00000446524	T	0.00188	8.59	4.84	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.117629	0.38778	N	0.001571	T	0.00412	0.0013	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46965	-0.9153	10	0.72032	D	0.01	.	6.6304	0.22853	0.0:0.6819:0.147:0.171	.	181	Q6IF82	O4A47_HUMAN	A	181	ENSP00000412752:P181A	ENSP00000412752:P181A	P	+	1	0	OR4A47	48467461	0.000000	0.05858	0.219000	0.23793	0.012000	0.07955	0.174000	0.16743	0.105000	0.17753	-0.409000	0.06214	CCC		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1		NM_001005512		15	280	0	0	0	0.00245	0	15	280		
TMX2	51075	broad.mit.edu	37	11	57506699	57506699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:57506699G>C	ENST00000278422.4	+	7	723	c.711G>C	c.(709-711)aaG>aaC	p.K237N	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.K199N|C11orf31_ENST00000388857.4_5'Flank|RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	237	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.K237N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						AGATTGACAAGAAAGGACGGG	0.562																																						uc001nlc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(709-711)AAG>AAC		thioredoxin domain containing 14 isoform 1							115.0	102.0	106.0					11																	57506699		2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57506699G>C	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.711G>C	11.37:g.57506699G>C	ENSP00000278422:p.Lys237Asn					CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Missense_Mutation_p.K143N|TMX2_uc001nle.1_Missense_Mutation_p.K199N|C11orf31_uc010rjx.1_5'Flank	p.K237N	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN			7	760	+			237			Cytoplasmic (Potential).|Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.711G>C	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198451	0.22037	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.45668	0.89	5.49	3.63	0.41609	Thioredoxin-like fold (2);	0.059958	0.64402	U	0.000004	T	0.25044	0.0608	N	0.16790	0.44	0.58432	D	0.999996	B;B	0.11235	0.001;0.004	B;B	0.17433	0.012;0.018	T	0.04400	-1.0954	9	.	.	.	-12.7342	10.3183	0.43751	0.2152:0.0:0.7848:0.0	.	199;237	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	N	199;237	ENSP00000367562:K199N	.	K	+	3	2	TMX2	57263275	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	1.310000	0.33551	0.697000	0.31718	0.561000	0.74099	AAG		0.562	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1		NM_015959		16	110	0	0	0	0.00499	0	16	110		
OR6Q1	219952	broad.mit.edu	37	11	57798494	57798494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:57798494G>A	ENST00000302622.3	+	1	93	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E24K(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCATCCATGAAGCACACCT	0.468																																						uc010rjz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(70-72)GAA>AAA		olfactory receptor, family 6, subfamily Q,							244.0	231.0	235.0					11																	57798494		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798494G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.70G>A	11.37:g.57798494G>A	ENSP00000307734:p.Glu24Lys					OR9Q1_uc001nmj.2_Intron	p.E24K	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	70	+		Breast(21;0.0707)|all_epithelial(135;0.142)	24			Extracellular (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.70G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.681458	0.00745	.	.	ENSG00000172381	ENST00000302622	T	0.01092	5.35	5.32	2.39	0.29439	.	0.000000	0.36932	N	0.002340	T	0.01124	0.0037	L	0.43554	1.36	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.47649	-0.9101	10	0.33141	T	0.24	.	3.1825	0.06589	0.237:0.0:0.4254:0.3375	.	24	Q8NGQ2	OR6Q1_HUMAN	K	24	ENSP00000307734:E24K	ENSP00000307734:E24K	E	+	1	0	OR6Q1	57555070	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.368000	0.20399	0.606000	0.29965	0.643000	0.83706	GAA		0.468	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1		NM_001005186		111	305	0	0	0	0.01441	0	111	305		
LPXN	9404	broad.mit.edu	37	11	58322349	58322349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58322349C>T	ENST00000395074.2	-	4	371	c.283G>A	c.(283-285)Gag>Aag	p.E95K	LPXN_ENST00000528954.1_Missense_Mutation_p.E100K|LPXN_ENST00000528489.1_Missense_Mutation_p.E75K	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	95					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.E100K(1)|p.E95K(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCCATGAGCTCATCCAACTGA	0.498																																						uc001nmw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(283-285)GAG>AAG		leupaxin isoform 2							152.0	135.0	141.0					11																	58322349		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58322349C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.283G>A	11.37:g.58322349C>T	ENSP00000378512:p.Glu95Lys					LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E100K|LPXN_uc010rkk.1_Missense_Mutation_p.E75K	p.E95K	NM_004811	NP_004802	O60711	LPXN_HUMAN			4	428	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	95			LD motif 3.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.283G>A	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434634	0.83885	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.29917	1.55;1.55	5.74	5.74	0.90152	.	0.072185	0.56097	D	0.000027	T	0.43656	0.1257	L	0.56280	1.765	0.50039	D	0.999845	B;D;B	0.67145	0.103;0.996;0.23	B;P;B	0.55923	0.041;0.787;0.032	T	0.07597	-1.0764	10	0.28530	T	0.3	.	15.4174	0.74980	0.0:1.0:0.0:0.0	.	75;100;95	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	K	100;95	ENSP00000431284:E100K;ENSP00000378512:E95K	ENSP00000378512:E95K	E	-	1	0	LPXN	58078925	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.169000	0.50809	2.707000	0.92482	0.563000	0.77884	GAG		0.498	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1		NM_004811		4	61	0	0	0	0.000602	0	4	61		
GLYAT	10249	broad.mit.edu	37	11	58478139	58478139	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58478139C>T	ENST00000344743.3	-	5	553	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	GLYAT_ENST00000278400.3_Missense_Mutation_p.E138K|GLYAT_ENST00000529732.1_Missense_Mutation_p.E138K	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	138					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.E138K(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTGGCTGTTTCAGCTGCCATA	0.423																																						uc001nnb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(412-414)GAA>AAA		glycine-N-acyltransferase isoform a	Glycine(DB00145)						156.0	145.0	149.0					11																	58478139		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58478139C>T	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.412G>A	11.37:g.58478139C>T	ENSP00000340200:p.Glu138Lys					GLYAT_uc001nnc.2_Missense_Mutation_p.E138K	p.E138K	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN			5	567	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	138					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.412G>A	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389348	0.25118	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.15139	2.45;2.45;2.45	5.77	0.591	0.17465	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.778137	0.12641	N	0.451334	T	0.24275	0.0588	M	0.88979	2.995	0.09310	N	1	B;B	0.19331	0.035;0.02	B;B	0.28553	0.055;0.091	T	0.32981	-0.9886	10	0.33940	T	0.23	-9.3692	5.0987	0.14747	0.0:0.4792:0.2827:0.2382	.	138;138	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	K	138	ENSP00000340200:E138K;ENSP00000431688:E138K;ENSP00000278400:E138K	ENSP00000278400:E138K	E	-	1	0	GLYAT	58234715	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.164000	0.16542	-0.127000	0.11661	-0.150000	0.13652	GAA		0.423	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1				39	199	0	0	0	0.013114	0	39	199		
MPEG1	219972	broad.mit.edu	37	11	58978821	58978821	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:58978821G>C	ENST00000361050.3	-	1	1603	c.1518C>G	c.(1516-1518)ctC>ctG	p.L506L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	506						integral component of membrane (GO:0016021)		p.L506L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGTTTTCAAAGAGTCTCAGTG	0.512																																						uc001nnu.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1516-1518)CTC>CTG		macrophage expressed gene 1 precursor							61.0	60.0	60.0					11																	58978821		1857	4100	5957	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58978821G>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1518C>G	11.37:g.58978821G>C							p.L506L	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1674	-		all_epithelial(135;0.125)	506			Extracellular (Potential).		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.1518C>G	CCDS41650.1																																																																																				0.512	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1		NM_001039396		19	97	0	0	0	0.008871	0	19	97		
OSBP	5007	broad.mit.edu	37	11	59349008	59349008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:59349008G>A	ENST00000263847.1	-	10	2177	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	566					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.F566F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CAGTTGCATGGAAAATACAAT	0.413																																						uc001noc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(1696-1698)TTC>TTT		oxysterol binding protein							141.0	120.0	127.0					11																	59349008		2201	4295	6496	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59349008G>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1698C>T	11.37:g.59349008G>A						OSBP_uc009ymr.1_RNA	p.F566F	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	10	2178	-		all_epithelial(135;0.000236)	566					Q6P524	Silent	SNP	ENST00000263847.1	37	c.1698C>T	CCDS7974.1																																																																																				0.413	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1				21	149	0	0	0	0.008871	0	21	149		
MS4A1	931	broad.mit.edu	37	11	60229875	60229875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:60229875G>A	ENST00000534668.1	+	2	317	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	MS4A1_ENST00000345732.4_Missense_Mutation_p.G10R|MS4A1_ENST00000532073.1_Missense_Mutation_p.G10R|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Missense_Mutation_p.G10R|MS4A1_ENST00000389939.2_Missense_Mutation_p.G10R	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	10					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.G10R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TTCAGTAAATGGGACTTTCCC	0.433																																						uc001npp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)	5						c.(28-30)GGG>AGG		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						59.0	61.0	60.0					11																	60229875		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60229875G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.28G>A	11.37:g.60229875G>A	ENSP00000433277:p.Gly10Arg					MS4A1_uc009ymy.1_Missense_Mutation_p.G10R|MS4A1_uc001npq.2_Missense_Mutation_p.G10R|MS4A1_uc009yna.2_Missense_Mutation_p.G10R|MS4A1_uc009ymz.2_Missense_Mutation_p.G10R|MS4A1_uc010rlc.1_Missense_Mutation_p.G10R	p.G10R	NM_152866	NP_690605	P11836	CD20_HUMAN			3	444	+			10			Cytoplasmic (Potential).		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.28G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001616	0.74818	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.57273	0.95;0.41;0.95;0.95	5.21	5.21	0.72293	.	1.484660	0.03714	N	0.250818	T	0.68988	0.3061	L	0.36672	1.1	0.25602	N	0.986582	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.985;0.999;0.999;0.999	T	0.60840	-0.7183	10	0.72032	D	0.01	-10.1761	14.2747	0.66173	0.0:0.0:1.0:0.0	.	10;10;10;10	B4DT24;E9PKH8;A8K803;P11836	.;.;.;CD20_HUMAN	R	10	ENSP00000314620:G10R;ENSP00000433519:G10R;ENSP00000433277:G10R;ENSP00000374589:G10R	ENSP00000314620:G10R	G	+	1	0	MS4A1	59986451	0.977000	0.34250	0.205000	0.23548	0.928000	0.56348	2.903000	0.48711	2.431000	0.82371	0.655000	0.94253	GGG		0.433	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1				36	85	0	0	0	0.00623	0	36	85		
EEF1G	1937	broad.mit.edu	37	11	62334336	62334336	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:62334336C>T	ENST00000329251.4	-	7	929	c.799G>A	c.(799-801)Gag>Aag	p.E267K	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.E317K	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	267					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)	p.E267K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCGCCTGCTCACATTCATCC	0.602																																						uc001ntm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(799-801)GAG>AAG		eukaryotic translation elongation factor 1							50.0	48.0	49.0					11																	62334336		1861	4081	5942	SO:0001583	missense	1937				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr11:62334336C>T	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.799G>A	11.37:g.62334336C>T	ENSP00000331901:p.Glu267Lys					EEF1G_uc010rlw.1_Missense_Mutation_p.E317K|EEF1G_uc001ntn.1_Missense_Mutation_p.E147K	p.E267K	NM_001404	NP_001395	P26641	EF1G_HUMAN			7	945	-			267					B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	c.799G>A	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208605	0.79240	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.42900	0.96;0.96	4.66	4.66	0.58398	.	0.054755	0.64402	D	0.000001	T	0.47820	0.1466	M	0.80422	2.495	0.58432	D	0.999999	B;B	0.32203	0.36;0.092	B;B	0.31614	0.062;0.133	T	0.56498	-0.7969	10	0.62326	D	0.03	.	15.3903	0.74739	0.0:1.0:0.0:0.0	.	317;267	B4DTG2;P26641	.;EF1G_HUMAN	K	267;317	ENSP00000331901:E267K;ENSP00000367258:E317K	ENSP00000331901:E267K	E	-	1	0	EEF1G	62090912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.431000	0.80335	2.299000	0.77371	0.561000	0.74099	GAG		0.602	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1		NM_001404		31	53	0	0	0	0.010818	0	31	53		
HRASLS5	117245	broad.mit.edu	37	11	63235859	63235859	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:63235859C>A	ENST00000301790.4	-	4	613	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	HRASLS5_ENST00000540857.1_Missense_Mutation_p.D142Y|HRASLS5_ENST00000539221.1_Missense_Mutation_p.D152Y			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	152							transferase activity, transferring acyl groups (GO:0016746)	p.D152Y(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACGCAATCATCTTCTACATAG	0.388																																						uc001nwy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(454-456)GAT>TAT		HRAS-like suppressor family, member 5 isoform 1							149.0	144.0	146.0					11																	63235859		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63235859C>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.454G>T	11.37:g.63235859C>A	ENSP00000301790:p.Asp152Tyr					HRASLS5_uc001nwz.2_Missense_Mutation_p.D142Y|HRASLS5_uc010rmq.1_Missense_Mutation_p.D152Y|HRASLS5_uc009yos.2_Intron	p.D152Y	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			4	628	-			152					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.454G>T	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225354	0.58668	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.33438	1.41;1.41;1.41	4.37	3.42	0.39159	.	0.119817	0.53938	D	0.000046	T	0.51143	0.1657	M	0.83012	2.62	0.44073	D	0.996821	D;B;P	0.60575	0.988;0.371;0.611	D;B;P	0.65010	0.931;0.44;0.653	T	0.54323	-0.8311	10	0.72032	D	0.01	-16.3626	7.115	0.25411	0.0:0.8704:0.0:0.1296	.	152;142;152	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	Y	142;152;152	ENSP00000444809:D142Y;ENSP00000443873:D152Y;ENSP00000301790:D152Y	ENSP00000301790:D152Y	D	-	1	0	HRASLS5	62992435	0.983000	0.35010	1.000000	0.80357	0.939000	0.58152	1.754000	0.38369	1.350000	0.45770	0.561000	0.74099	GAT		0.388	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1		NM_054108		29	192	1	0	1.13719e-10	0.008361	1.18005e-10	29	192		
ATG2A	23130	broad.mit.edu	37	11	64668054	64668054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:64668054G>C	ENST00000377264.3	-	31	4488	c.4376C>G	c.(4375-4377)tCt>tGt	p.S1459C	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1461C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1459					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S1459C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTTGGGGCCAGAGCAGCGGGA	0.667																																						uc001obx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(4375-4377)TCT>TGT		autophagy related 2A							35.0	44.0	41.0					11																	64668054		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64668054G>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4376C>G	11.37:g.64668054G>C	ENSP00000366475:p.Ser1459Cys					ATG2A_uc001obw.2_Missense_Mutation_p.S224C	p.S1459C	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			31	4491	-			1459					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4376C>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754315	0.69648	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.08008	3.14;3.14	4.7	4.7	0.59300	.	0.267927	0.31721	N	0.007162	T	0.21267	0.0512	L	0.47716	1.5	0.32054	N	0.596551	D;D	0.76494	0.999;0.999	P;D	0.67382	0.894;0.951	T	0.01432	-1.1356	10	0.54805	T	0.06	.	15.5234	0.75881	0.0:0.0:1.0:0.0	.	1459;1461	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	C	1461;1459	ENSP00000410522:S1461C;ENSP00000366475:S1459C	ENSP00000366475:S1459C	S	-	2	0	ATG2A	64424630	0.947000	0.32204	0.932000	0.37286	0.998000	0.95712	2.741000	0.47426	2.601000	0.87937	0.561000	0.74099	TCT		0.667	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		10	45	0	0	0	0.008291	0	10	45		
RELA	5970	broad.mit.edu	37	11	65421919	65421919	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65421919G>A	ENST00000406246.3	-	11	1847	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.S526L	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	529					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)	p.S529L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TTCATCTCCTGAAAGGAGGCC	0.632																																						uc001ofg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(1)	4						c.(1585-1587)TCA>TTA		v-rel reticuloendotheliosis viral oncogene							26.0	29.0	28.0					11																	65421919		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421919G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1586C>T	11.37:g.65421919G>A	ENSP00000384273:p.Ser529Leu					RELA_uc001ofh.2_Missense_Mutation_p.S526L|RELA_uc010ron.1_Missense_Mutation_p.S540L|RELA_uc009yqr.2_Missense_Mutation_p.S476L|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Missense_Mutation_p.S426L	p.S529L	NM_021975	NP_068810	Q04206	TF65_HUMAN			11	1726	-			529					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.1586C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562806	0.27915	.	.	ENSG00000173039	ENST00000406246;ENST00000308639	T;T	0.46819	0.87;0.86	4.05	3.09	0.35607	.	1.700700	0.03655	N	0.241700	T	0.41003	0.1140	N	0.24115	0.695	0.09310	N	1	B;P;B;B	0.47253	0.034;0.892;0.034;0.02	B;B;B;B	0.44085	0.027;0.44;0.027;0.012	T	0.41288	-0.9517	10	0.59425	D	0.04	-1.8037	8.7739	0.34749	0.0:0.2554:0.7446:0.0	.	519;515;526;529	Q04206-3;Q04206-2;Q04206-4;Q04206	.;.;.;TF65_HUMAN	L	529;526	ENSP00000384273:S529L;ENSP00000311508:S526L	ENSP00000311508:S526L	S	-	2	0	RELA	65178495	0.094000	0.21725	0.371000	0.25978	0.867000	0.49689	2.347000	0.44036	2.116000	0.64780	0.561000	0.74099	TCA		0.632	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2		NM_021975		23	56	0	0	0	0.014323	0	23	56		
SF3B2	10992	broad.mit.edu	37	11	65824745	65824745	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:65824745C>G	ENST00000322535.6	+	7	725	c.676C>G	c.(676-678)Cca>Gca	p.P226A	SF3B2_ENST00000528302.1_Missense_Mutation_p.P209A	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	226					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P226A(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGTAGCTGCTCCAGTGGGCCC	0.542																																						uc001ogy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(676-678)CCA>GCA		splicing factor 3B subunit 2							77.0	92.0	87.0					11																	65824745		2195	4294	6489	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65824745C>G	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.676C>G	11.37:g.65824745C>G	ENSP00000318861:p.Pro226Ala						p.P226A	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			7	716	+			226					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.676C>G	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431381	0.62844	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000530322	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	N	0.19112	0.55	0.31822	N	0.625883	B	0.32753	0.383	B	0.32677	0.15	T	0.47749	-0.9093	9	0.48119	T	0.1	-0.4322	14.8218	0.70080	0.0:1.0:0.0:0.0	.	226	Q13435	SF3B2_HUMAN	A	209;226;224;225;220	.	ENSP00000318861:P226A	P	+	1	0	SF3B2	65581321	0.921000	0.31238	1.000000	0.80357	0.785000	0.44390	2.768000	0.47645	2.643000	0.89663	0.650000	0.86243	CCA		0.542	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2				37	214	0	0	0	0.011902	0	37	214		
RBM4	5936	broad.mit.edu	37	11	66410998	66410998	+	Silent	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:66410998C>A	ENST00000409406.1	+	2	1267	c.490C>A	c.(490-492)Cgg>Agg	p.R164R	RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000412278.2_Silent_p.R139R|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Silent_p.R164R|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_Silent_p.R139R|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Silent_p.R164R|RBM4_ENST00000503028.2_Silent_p.R164R			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	164					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R164W(1)|p.R164R(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGGCTGCTATCGGTGCGGGAA	0.567																																						uc009yrj.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(1)|endometrium(1)	ovary(1)	1						c.(490-492)CGG>AGG		RNA binding motif protein 4							49.0	58.0	55.0					11																	66410998		2190	4291	6481	SO:0001819	synonymous_variant	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66410998C>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.490C>A	11.37:g.66410998C>A						RBM4_uc009yrk.2_Silent_p.R139R|RBM4_uc001oiw.1_Silent_p.R164R|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.R164R|RBM4_uc001oiz.1_Silent_p.R164R	p.R164R	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	978	+			164			CCHC-type.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.490C>A	CCDS41676.1																																																																																				0.567	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1		NM_002896		7	53	1	0	0.000274275	0.004482	0.000279026	7	53		
RBM4B	83759	broad.mit.edu	37	11	66444285	66444285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:66444285C>T	ENST00000525754.1	-	1	934	c.266G>A	c.(265-267)tGt>tAt	p.C89Y	RBM4B_ENST00000531969.1_Missense_Mutation_p.C89Y|RBM4B_ENST00000531036.2_Missense_Mutation_p.C89Y|RBM4B_ENST00000310046.4_Missense_Mutation_p.C89Y|RBM4B_ENST00000524637.1_Missense_Mutation_p.C89Y			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	89	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C89Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TTGGTTGGTACAAGTGGGGCT	0.488																																						uc001oja.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(265-267)TGT>TAT		RNA binding motif protein 4B							281.0	252.0	262.0					11																	66444285		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66444285C>T	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.266G>A	11.37:g.66444285C>T	ENSP00000433071:p.Cys89Tyr					RBM4B_uc001ojb.2_Missense_Mutation_p.C89Y	p.C89Y	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN			1	935	-			89			RRM 2.		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.266G>A	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166954	0.57476	.	.	ENSG00000173914	ENST00000525754;ENST00000310046;ENST00000531969;ENST00000524637	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.38175	1.15	0.80722	D	1	P	0.49307	0.922	P	0.59948	0.866	T	0.00761	-1.1577	10	0.62326	D	0.03	-19.3306	18.5471	0.91052	0.0:1.0:0.0:0.0	.	89	Q9BQ04	RBM4B_HUMAN	Y	89	ENSP00000433071:C89Y;ENSP00000310471:C89Y;ENSP00000435239:C89Y;ENSP00000433113:C89Y	ENSP00000310471:C89Y	C	-	2	0	RBM4B	66200861	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	5.973000	0.70456	2.694000	0.91930	0.555000	0.69702	TGT		0.488	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1		NM_031492		124	295	0	0	0	0.01441	0	124	295		
TPCN2	219931	broad.mit.edu	37	11	68838874	68838874	+	Missense_Mutation	SNP	C	C	T	rs373597027		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:68838874C>T	ENST00000294309.3	+	10	1047	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	TPCN2_ENST00000542467.1_Missense_Mutation_p.R316W|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	316					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.R316W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGTCAGTTCCGGGGCTACCT	0.602																																						uc001oos.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(946-948)CGG>TGG		two pore segment channel 2		C	TRP/ARG	1,4399	2.1+/-5.4	0,1,2199	96.0	82.0	87.0		946	4.0	1.0	11		87	1,8587	1.2+/-3.3	0,1,4293	no	missense	TPCN2	NM_139075.3	101	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	316/753	68838874	2,12986	2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68838874C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.946C>T	11.37:g.68838874C>T	ENSP00000294309:p.Arg316Trp					TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.R231W|TPCN2_uc010rqg.1_Missense_Mutation_p.R316W|TPCN2_uc001oot.2_5'Flank	p.R316W	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		10	1062	+			316			Cytoplasmic (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.946C>T	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748541	0.49257	2.27E-4	1.16E-4	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97575	-4.44;-4.44	4.99	3.95	0.45737	.	0.055111	0.64402	D	0.000002	D	0.98074	0.9365	M	0.78637	2.42	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98243	1.0489	10	0.87932	D	0	-35.901	13.3815	0.60770	0.2544:0.7455:0.0:0.0	.	316;316;231	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	W	246;316;231;316	ENSP00000294309:R316W;ENSP00000445551:R316W	ENSP00000294309:R316W	R	+	1	2	TPCN2	68595450	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.093000	0.41710	2.466000	0.83321	0.561000	0.74099	CGG		0.602	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2		NM_139075		5	12	0	0	0	0.000602	0	5	12		
PIWIL4	143689	broad.mit.edu	37	11	94340677	94340677	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:94340677C>T	ENST00000299001.6	+	14	1922	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	571	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.P571S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTCAGACTGCCCAGTCCCAAG	0.423																																						uc001pfa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1711-1713)CCA>TCA		piwi-like 4							88.0	80.0	82.0					11																	94340677		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94340677C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1711C>T	11.37:g.94340677C>T	ENSP00000299001:p.Pro571Ser					PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.P571S	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			14	1922	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	571			Piwi.		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.1711C>T	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087835	0.76642	.	.	ENSG00000134627	ENST00000299001	T	0.28666	1.6	4.75	4.75	0.60458	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.198828	0.36134	N	0.002775	T	0.62660	0.2446	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.68922	-0.5281	10	0.45353	T	0.12	-16.4368	16.6598	0.85238	0.0:1.0:0.0:0.0	.	571	Q7Z3Z4	PIWL4_HUMAN	S	571	ENSP00000299001:P571S	ENSP00000299001:P571S	P	+	1	0	PIWIL4	93980325	1.000000	0.71417	0.995000	0.50966	0.626000	0.37791	5.533000	0.67160	2.454000	0.82982	0.557000	0.71058	CCA		0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1		NM_152431		26	48	0	0	0	0.005443	0	26	48		
RDX	5962	broad.mit.edu	37	11	110124732	110124732	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:110124732T>C	ENST00000343115.4	-	9	1217	c.898A>G	c.(898-900)Att>Gtt	p.I300V	RDX_ENST00000405097.1_Missense_Mutation_p.I300V|RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.I164V|RDX_ENST00000528498.1_Missense_Mutation_p.I300V|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	300					actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.I300V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTACTTCAATAGTATCAGGC	0.408																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(898-900)ATT>GTT		radixin							125.0	108.0	114.0					11																	110124732		2201	4298	6499	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110124732T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.898A>G	11.37:g.110124732T>C	ENSP00000342830:p.Ile300Val					RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.I300V|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.I164V	p.I300V	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	9	1208	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	300					A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.898A>G	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368133	0.42003	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.72	5.72	0.89469	.	0.046579	0.85682	D	0.000000	T	0.61148	0.2324	M	0.86502	2.82	0.80722	D	1	B;P;B	0.40553	0.308;0.721;0.053	P;P;B	0.60012	0.486;0.867;0.04	T	0.64292	-0.6442	10	0.54805	T	0.06	.	16.0055	0.80359	0.0:0.0:0.0:1.0	.	164;300;300	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	V	300;300;300;300;164	ENSP00000432112:I300V;ENSP00000384136:I300V;ENSP00000342830:I300V;ENSP00000445826:I164V	ENSP00000342830:I300V	I	-	1	0	RDX	109629942	1.000000	0.71417	0.555000	0.28281	0.133000	0.20885	7.986000	0.88173	2.184000	0.69523	0.533000	0.62120	ATT		0.408	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2		NM_002906		32	95	0	0	0	0.008361	0	32	95		
BUD13	84811	broad.mit.edu	37	11	116640940	116640940	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:116640940T>C	ENST00000260210.4	-	2	167		c.e2-2		BUD13_ENST00000375445.3_Splice_Site	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)						mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCCGCATTCTAAATGAGAAT	0.368																																						uc001ppn.2		NaN																	1	Unknown(1)		urinary_tract(1)	large_intestine(1)|pancreas(1)	2						c.e2-1		BUD13 homolog isoform 1							107.0	97.0	101.0					11																	116640940		2201	4296	6497	SO:0001630	splice_region_variant	84811							g.chr11:116640940T>C	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.144-2A>G	11.37:g.116640940T>C						BUD13_uc001ppo.2_Splice_Site_p.G48_splice|BUD13_uc009yzc.2_Splice_Site_p.G48_splice	p.G48_splice	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	2	178	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)						A8K0S0|Q96LS7	Splice_Site	SNP	ENST00000260210.4	37	c.144_splice	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431879	0.62844	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6719	0.68951	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUD13	116146150	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.753000	0.68736	2.192000	0.70111	0.529000	0.55759	.		0.368	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725	Intron	13	57	0	0	0	0.00245	0	13	57		
KMT2A	4297	broad.mit.edu	37	11	118344511	118344511	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:118344511G>A	ENST00000389506.5	+	3	2637	c.2637G>A	c.(2635-2637)gaG>gaA	p.E879E	KMT2A_ENST00000534358.1_Silent_p.E879E|KMT2A_ENST00000354520.4_Silent_p.E879E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	879					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E879E(2)									gagaccgggagagagaaaagg	0.473																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - coding silent(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(2635-2637)GAG>GAA		myeloid/lymphoid or mixed-lineage leukemia							55.0	52.0	53.0					11																	118344511		2200	4296	6496	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118344511G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2637G>A	11.37:g.118344511G>A						MLL_uc001ptb.2_Silent_p.E879E|MLL_uc001psz.1_Silent_p.E912E|MLL_uc001ptd.1_Intron	p.E879E	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	3	2660	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	879					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.2637G>A	CCDS31686.1																																																																																				0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		23	54	0	0	0	0.00278	0	23	54		
TRIM29	23650	broad.mit.edu	37	11	120008356	120008356	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:120008356G>C	ENST00000341846.5	-	1	805	c.384C>G	c.(382-384)cgC>cgG	p.R128R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	128					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R128R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAATGGACTTGCGCAGCTCGC	0.637																																						uc001pwz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(382-384)CGC>CGG		tripartite motif protein TRIM29							105.0	118.0	114.0					11																	120008356		2203	4300	6503	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008356G>C	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.384C>G	11.37:g.120008356G>C						TRIM29_uc001pxa.2_RNA	p.R128R	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	508	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	128					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.384C>G	CCDS8428.1																																																																																				0.637	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2		NM_012101		40	215	0	0	0	0.00874	0	40	215		
GRIK4	2900	broad.mit.edu	37	11	120673512	120673512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:120673512G>C	ENST00000527524.2	+	4	480	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.E65Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	65					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E65Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGCCAAGGTCGAAGTGGACAT	0.602											OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pxn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(193-195)GAA>CAA		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						94.0	82.0	86.0					11																	120673512		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120673512G>C	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.193G>C	11.37:g.120673512G>C	ENSP00000435648:p.Glu65Gln		OREG0021427	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1505	GRIK4_uc009zav.1_Missense_Mutation_p.E65Q|GRIK4_uc009zaw.1_Missense_Mutation_p.E65Q|GRIK4_uc009zax.1_Missense_Mutation_p.E65Q	p.E65Q	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	4	480	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	65			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.193G>C	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067929	0.93950	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.82344	-1.6;-1.6	5.58	5.58	0.84498	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.955;0.991	D	0.90205	0.4260	10	0.52906	T	0.07	.	19.5619	0.95375	0.0:0.0:1.0:0.0	.	65;65	A6H8K8;Q16099	.;GRIK4_HUMAN	Q	65	ENSP00000435648:E65Q;ENSP00000404063:E65Q	ENSP00000404063:E65Q	E	+	1	0	GRIK4	120178722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.178000	0.94855	2.611000	0.88343	0.585000	0.79938	GAA		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4		NM_014619		12	67	0	0	0	0.013537	0	12	67		
ROBO4	54538	broad.mit.edu	37	11	124757737	124757737	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:124757737C>T	ENST00000306534.3	-	13	2434		c.e13-1		ROBO4_ENST00000533054.1_Splice_Site|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.?(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGCTGCAGCTCTGCAAAGAAA	0.562																																						uc001qbg.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.e13-1		roundabout homolog 4, magic roundabout							55.0	63.0	60.0					11																	124757737		2201	4299	6500	SO:0001630	splice_region_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124757737C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1949-1G>A	11.37:g.124757737C>T						ROBO4_uc010sas.1_Splice_Site_p.E505_splice|ROBO4_uc001qbh.2_Splice_Site_p.E540_splice|ROBO4_uc001qbi.2_Splice_Site_p.E208_splice|ROBO4_uc010sat.1_Intron	p.E650_splice	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	13	2089	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)						A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Splice_Site	SNP	ENST00000306534.3	37	c.1949_splice	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602798	0.46423	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	.	.	.	5.3	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1511	0.48460	0.0:0.9145:0.0:0.0855	.	.	.	.	.	-1	.	.	.	-	.	.	ROBO4	124262947	1.000000	0.71417	0.388000	0.26195	0.681000	0.39784	4.301000	0.59086	1.478000	0.48253	0.563000	0.77884	.		0.562	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1		NM_019055	Intron	14	45	0	0	0	0.001855	0	14	45		
SLC37A2	219855	broad.mit.edu	37	11	124949113	124949113	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:124949113C>T	ENST00000403796.2	+	5	721	c.420C>T	c.(418-420)atC>atT	p.I140I	SLC37A2_ENST00000407458.1_Silent_p.I140I|SLC37A2_ENST00000298280.5_Silent_p.I140I|SLC37A2_ENST00000308074.4_Silent_p.I140I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	140					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.I140I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCTGGAACATCCACGAGCTCT	0.557																																					Melanoma(11;373 620 21213 26083 47768)	uc001qbn.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(418-420)ATC>ATT		solute carrier family 37 (glycerol-3-phosphate							143.0	127.0	133.0					11																	124949113		2201	4299	6500	SO:0001819	synonymous_variant	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124949113C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.420C>T	11.37:g.124949113C>T						SLC37A2_uc010sau.1_Silent_p.I140I	p.I140I	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	5	671	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	140					A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	c.420C>T	CCDS44757.1																																																																																				0.557	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1		XM_166184		29	133	0	0	0	0.007291	0	29	133		
ARHGAP32	9743	broad.mit.edu	37	11	128910840	128910840	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:128910840T>C	ENST00000310343.9	-	10	985	c.986A>G	c.(985-987)aAc>aGc	p.N329S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N255S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	329					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.N329S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGCACTGAGTTGGTCACTGA	0.398																																						uc009zcp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(2)	5						c.(985-987)AAC>AGC		Rho GTPase-activating protein isoform 1							92.0	79.0	83.0					11																	128910840		1566	3579	5145	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128910840T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.986A>G	11.37:g.128910840T>C	ENSP00000310561:p.Asn329Ser					ARHGAP32_uc009zcq.1_Missense_Mutation_p.N289S|ARHGAP32_uc001qfb.2_Missense_Mutation_p.N114S	p.N329S	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			10	986	-			329					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.986A>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	7.393	0.631099	0.14322	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000356092	T;T	0.27402	1.67;1.67	5.22	5.22	0.72569	Src homology-3 domain (1);	.	.	.	.	T	0.17280	0.0415	N	0.10874	0.06	0.80722	D	1	B;P;B	0.36027	0.032;0.533;0.002	B;B;B	0.33890	0.01;0.172;0.004	T	0.09443	-1.0674	9	0.36615	T	0.2	.	12.6141	0.56567	0.0:0.0:0.0:1.0	.	263;329;147	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	S	329;255;263;39	ENSP00000310561:N329S;ENSP00000432468:N255S	ENSP00000310561:N329S	N	-	2	0	ARHGAP32	128416050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.341000	0.72977	1.981000	0.57761	0.482000	0.46254	AAC		0.398	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		5	17	0	0	0	0.000602	0	5	17		
BARX2	8538	broad.mit.edu	37	11	129246012	129246012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:129246012G>A	ENST00000281437.4	+	1	178	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	28					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.D28N(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TTTCATGATCGACGAGATCCT	0.617											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qfc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(82-84)GAC>AAC		BarH-like homeobox 2							113.0	123.0	120.0					11																	129246012		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129246012G>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.82G>A	11.37:g.129246012G>A	ENSP00000281437:p.Asp28Asn		OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1571		p.D28N	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	1	132	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	28					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.82G>A	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143531	0.94603	.	.	ENSG00000043039	ENST00000281437	D	0.91740	-2.9	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	L	0.32530	0.975	0.80722	D	1	D	0.60575	0.988	P	0.45449	0.481	D	0.90569	0.4521	10	0.72032	D	0.01	.	14.9592	0.71144	0.0:0.0:1.0:0.0	.	28	Q9UMQ3	BARX2_HUMAN	N	28	ENSP00000281437:D28N	ENSP00000281437:D28N	D	+	1	0	BARX2	128751222	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.120000	0.77153	2.294000	0.77228	0.585000	0.79938	GAC		0.617	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1		NM_003658		62	131	0	0	0	0.01441	0	62	131		
BARX2	8538	broad.mit.edu	37	11	129246023	129246023	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:129246023C>G	ENST00000281437.4	+	1	189	c.93C>G	c.(91-93)ctC>ctG	p.L31L		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	31					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.L31L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACGAGATCCTCTCCAAGGAGA	0.597											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qfc.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(91-93)CTC>CTG		BarH-like homeobox 2							130.0	140.0	136.0					11																	129246023		2201	4297	6498	SO:0001819	synonymous_variant	8538							g.chr11:129246023C>G	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.93C>G	11.37:g.129246023C>G			OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1571		p.L31L	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	1	143	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	31					O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.93C>G	CCDS8481.1																																																																																				0.597	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1		NM_003658		33	178	0	0	0	0.010818	0	33	178		
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:130785628G>A	ENST00000265909.4	-	1	776	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602																																						uc001qgk.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(205-207)CTC>CTT		sorting nexin 19							62.0	54.0	57.0					11																	130785628		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785628G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.207C>T	11.37:g.130785628G>A						SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron	p.L69L	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	755	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	69					E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.207C>T	CCDS31721.1																																																																																				0.602	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1		NM_014758		8	37	0	0	0	0.013537	0	8	37		
CCDC77	84318	broad.mit.edu	37	12	538021	538021	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:538021C>T	ENST00000239830.4	+	6	679	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CCDC77_ENST00000422000.1_Missense_Mutation_p.P135L|CCDC77_ENST00000540180.1_Missense_Mutation_p.P135L|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.P135L	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	167						centrosome (GO:0005813)|membrane (GO:0016020)		p.P167L(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGTAAGGAGCCTCCTCACAAA	0.443																																						uc001qig.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(499-501)CCT>CTT		coiled-coil domain containing 77 isoform a							213.0	210.0	211.0					12																	538021		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:538021C>T	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.500C>T	12.37:g.538021C>T	ENSP00000239830:p.Pro167Leu					CCDC77_uc009zdk.2_Missense_Mutation_p.P135L|CCDC77_uc010sdp.1_Missense_Mutation_p.P135L|CCDC77_uc010sdq.1_Missense_Mutation_p.P135L	p.P167L	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		6	680	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		167					B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.500C>T	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701216	0.88924	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41448	-0.9508	10	0.35671	T	0.21	-15.0665	18.5683	0.91124	0.0:1.0:0.0:0.0	.	167	Q9BR77	CCD77_HUMAN	L	135;135;135;167;135	ENSP00000440554:P135L;ENSP00000391870:P135L;ENSP00000445873:P135L;ENSP00000239830:P167L;ENSP00000412925:P135L	ENSP00000239830:P167L	P	+	2	0	CCDC77	408282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.244000	0.78228	2.553000	0.86117	0.585000	0.79938	CCT		0.443	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1		NM_032358		70	167	0	0	0	0.01441	0	70	167		
NCAPD2	9918	broad.mit.edu	37	12	6626188	6626188	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6626188G>C	ENST00000315579.5	+	10	1981	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q349H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	394	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.Q394H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TTGTCCAGCAGAAGGTAACCA	0.458																																						uc001qoo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(1180-1182)CAG>CAC		non-SMC condensin I complex, subunit D2							125.0	119.0	121.0					12																	6626188		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6626188G>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1182G>C	12.37:g.6626188G>C	ENSP00000325017:p.Gln394His					NCAPD2_uc009zen.1_Missense_Mutation_p.Q266H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q349H	p.Q394H	NM_014865	NP_055680	Q15021	CND1_HUMAN			10	1228	+			394			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1182G>C	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128928	0.56721	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.09911	2.93;2.93;2.93	5.44	0.193	0.15139	Armadillo-like helical (1);Armadillo-type fold (1);	0.222130	0.48767	D	0.000164	T	0.11537	0.0281	L	0.39397	1.21	0.37207	D	0.904636	P;B;P	0.50710	0.938;0.081;0.736	P;B;B	0.50860	0.652;0.141;0.336	T	0.18366	-1.0339	10	0.40728	T	0.16	-22.0882	6.1081	0.20086	0.4156:0.2283:0.3561:0.0	.	349;355;394	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	394;266;349;266	ENSP00000325017:Q394H;ENSP00000371895:Q266H;ENSP00000444417:Q349H	ENSP00000325017:Q394H	Q	+	3	2	NCAPD2	6496449	1.000000	0.71417	0.997000	0.53966	0.793000	0.44817	1.713000	0.37951	0.015000	0.14971	0.462000	0.41574	CAG		0.458	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865		31	154	0	0	0	0.009535	0	31	154		
NCAPD2	9918	broad.mit.edu	37	12	6626830	6626830	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6626830G>C	ENST00000315579.5	+	12	2188	c.1389G>C	c.(1387-1389)caG>caC	p.Q463H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q418H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	463	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.Q463H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGAGGGCCCAGAGGCGAACTG	0.483																																						uc001qoo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(1387-1389)CAG>CAC		non-SMC condensin I complex, subunit D2							85.0	87.0	86.0					12																	6626830		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6626830G>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1389G>C	12.37:g.6626830G>C	ENSP00000325017:p.Gln463His					NCAPD2_uc009zen.1_Missense_Mutation_p.Q335H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q418H	p.Q463H	NM_014865	NP_055680	Q15021	CND1_HUMAN			12	1435	+			463			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1389G>C	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415121	0.62511	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.88975	-2.45;-2.45;-2.45	5.49	4.6	0.57074	Armadillo-type fold (1);	0.998791	0.08106	N	0.996922	D	0.84257	0.5432	N	0.12182	0.205	0.31387	N	0.678334	D;P;P	0.61080	0.989;0.906;0.898	P;B;B	0.53809	0.735;0.336;0.336	T	0.78329	-0.2246	10	0.44086	T	0.13	-2.9156	5.5367	0.17016	0.2704:0.0:0.7296:0.0	.	418;424;463	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	H	463;335;418;335	ENSP00000325017:Q463H;ENSP00000371895:Q335H;ENSP00000444417:Q418H	ENSP00000325017:Q463H	Q	+	3	2	NCAPD2	6497091	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.997000	0.49457	2.583000	0.87209	0.561000	0.74099	CAG		0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865		5	51	0	0	0	0.000602	0	5	51		
ZNF384	171017	broad.mit.edu	37	12	6777233	6777233	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:6777233G>T	ENST00000396801.3	-	11	1588	c.1381C>A	c.(1381-1383)Cag>Aag	p.Q461K	ZNF384_ENST00000319770.3_Missense_Mutation_p.Q384K|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000361959.3_Missense_Mutation_p.Q461K|ZNF384_ENST00000396799.2_Missense_Mutation_p.Q400K|ZNF384_ENST00000396795.1_Missense_Mutation_p.Q400K|ZNF384_ENST00000355772.4_Missense_Mutation_p.Q345K|RP4-761J14.8_ENST00000589924.1_RNA	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	461	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.Q461K(1)|p.Q400K(1)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						acctgttgctgAAGATCAGGC	0.552			T	"""EWSR1, TAF15 """	ALL																																	uc010sfh.1		NaN		Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	2	Substitution - Missense(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(1381-1383)CAG>AAG		nuclear matrix transcription factor 4 isoform d							68.0	64.0	65.0					12																	6777233		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6777233G>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1381C>A	12.37:g.6777233G>T	ENSP00000380019:p.Gln461Lys					ZNF384_uc001qpz.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqa.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqb.2_Missense_Mutation_p.Q384K|ZNF384_uc001qqc.2_Missense_Mutation_p.Q400K|ZNF384_uc001qqd.2_Missense_Mutation_p.Q345K|ZNF384_uc001qqe.2_Missense_Mutation_p.Q384K	p.Q461K	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			11	1589	-			461			Gln-rich.		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1381C>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	9.060	0.994200	0.19043	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.5	4.6	0.57074	.	0.207152	0.43416	D	0.000565	T	0.29882	0.0747	N	0.04297	-0.235	0.44976	D	0.997996	P;P;P;P	0.37398	0.458;0.593;0.593;0.593	B;P;P;P	0.45577	0.292;0.486;0.486;0.486	T	0.14896	-1.0456	10	0.02654	T	1	-12.9685	14.3601	0.66766	0.0732:0.0:0.9268:0.0	.	461;345;384;400	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	K	384;400;461;461;345;400	ENSP00000321650:Q384K;ENSP00000380013:Q400K;ENSP00000380019:Q461K;ENSP00000354592:Q461K;ENSP00000348018:Q345K;ENSP00000380017:Q400K	ENSP00000321650:Q384K	Q	-	1	0	ZNF384	6647494	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.267000	0.72546	2.600000	0.87896	0.491000	0.48974	CAG		0.552	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1				10	49	1	0	9.31168e-06	0.001855	9.5059e-06	10	49		
CD163L1	283316	broad.mit.edu	37	12	7559389	7559389	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:7559389C>G	ENST00000313599.3	-	5	883	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	CD163L1_ENST00000396630.1_Missense_Mutation_p.E276Q|CD163L1_ENST00000416109.2_Missense_Mutation_p.E286Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	276	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E276Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTTCAGCTCTACTCTCCCC	0.473																																						uc001qsy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(826-828)GAG>CAG		scavenger receptor cysteine-rich type 1							244.0	210.0	222.0					12																	7559389		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559389C>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.826G>C	12.37:g.7559389C>G	ENSP00000315945:p.Glu276Gln					CD163L1_uc010sge.1_Missense_Mutation_p.E286Q	p.E276Q	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	852	-			276			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.826G>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086150	0.76642	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.44482	0.92;0.92;0.92	1.88	1.88	0.25563	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.61615	0.2361	M	0.78285	2.405	0.32448	N	0.545754	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68622	-0.5360	9	0.87932	D	0	.	9.7497	0.40468	0.0:1.0:0.0:0.0	.	286;276	E7EVK4;Q9NR16	.;C163B_HUMAN	Q	276;286;276	ENSP00000315945:E276Q;ENSP00000393474:E286Q;ENSP00000379871:E276Q	ENSP00000315945:E276Q	E	-	1	0	CD163L1	7450656	1.000000	0.71417	0.054000	0.19295	0.684000	0.39900	6.544000	0.73878	1.339000	0.45563	0.460000	0.39030	GAG		0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1		NM_174941		19	110	0	0	0	0.012319	0	19	110		
CLEC9A	283420	broad.mit.edu	37	12	10218209	10218209	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:10218209A>C	ENST00000355819.1	+	9	1317	c.704A>C	c.(703-705)tAt>tCt	p.Y235S		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	235					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Y235S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TGTGAGAAGTATGCGTTGAGA	0.448																																						uc001qxa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(703-705)TAT>TCT		C-type lectin domain family 9, member A							197.0	172.0	180.0					12																	10218209		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10218209A>C		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.704A>C	12.37:g.10218209A>C	ENSP00000348074:p.Tyr235Ser						p.Y235S	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			9	1317	+			235			Extracellular (Potential).		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.704A>C	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	A	3.630	-0.075773	0.07184	.	.	ENSG00000197992	ENST00000355819	T	0.16073	2.37	4.79	2.42	0.29668	C-type lectin fold (1);	0.843025	0.09683	N	0.769430	T	0.08714	0.0216	L	0.29908	0.895	0.09310	N	1	P	0.35011	0.48	B	0.23275	0.045	T	0.25433	-1.0132	10	0.10636	T	0.68	.	5.8637	0.18762	0.7913:0.0:0.2087:0.0	.	235	Q6UXN8	CLC9A_HUMAN	S	235	ENSP00000348074:Y235S	ENSP00000348074:Y235S	Y	+	2	0	CLEC9A	10109476	0.000000	0.05858	0.013000	0.15412	0.024000	0.10985	0.654000	0.24918	0.882000	0.36016	0.528000	0.53228	TAT		0.448	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1		NM_207345		31	145	0	0	0	0.013726	0	31	145		
DUSP16	80824	broad.mit.edu	37	12	12630725	12630725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630725G>A	ENST00000228862.2	-	7	1671	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	347					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S347L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGCTGCCTCTGAGGTAGCAGA	0.642																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1039-1041)TCA>TTA		dual specificity phosphatase 16							35.0	35.0	35.0					12																	12630725		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630725G>A	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1040C>T	12.37:g.12630725G>A	ENSP00000228862:p.Ser347Leu					DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S199L	p.S347L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1672	-		Prostate(47;0.0687)	347					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1040C>T	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.930019	0.52759	.	.	ENSG00000111266	ENST00000228862	T	0.02121	4.44	5.58	4.69	0.59074	.	0.879114	0.09871	N	0.744900	T	0.04861	0.0131	L	0.54323	1.7	0.80722	D	1	P;P	0.50617	0.937;0.937	B;B	0.43536	0.423;0.423	T	0.50693	-0.8798	10	0.51188	T	0.08	.	14.2944	0.66302	0.0712:0.0:0.9288:0.0	.	347;347	Q9BY84;Q96N49	DUS16_HUMAN;.	L	347	ENSP00000228862:S347L	ENSP00000228862:S347L	S	-	2	0	DUSP16	12521992	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	2.872000	0.48467	1.352000	0.45808	0.563000	0.77884	TCA		0.642	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1		NM_030640		27	46	0	0	0	0.008361	0	27	46		
DUSP16	80824	broad.mit.edu	37	12	12630832	12630832	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630832G>C	ENST00000228862.2	-	7	1564	c.933C>G	c.(931-933)ctC>ctG	p.L311L	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	311					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L311L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCAGCAGCTTGAGTTTGCTCT	0.517																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(931-933)CTC>CTG		dual specificity phosphatase 16							78.0	75.0	76.0					12																	12630832		2203	4300	6503	SO:0001819	synonymous_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630832G>C	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.933C>G	12.37:g.12630832G>C						DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.L163L	p.L311L	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1565	-		Prostate(47;0.0687)	311					Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	c.933C>G	CCDS8650.1																																																																																				0.517	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1		NM_030640		49	92	0	0	0	0.01441	0	49	92		
DUSP16	80824	broad.mit.edu	37	12	12630910	12630910	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:12630910G>A	ENST00000228862.2	-	7	1486	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DUSP16_ENST00000545864.1_5'UTR|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	285	Tyrosine-protein phosphatase.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F285F(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAGAAAATTGAAGTTTGGAG	0.398																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(853-855)TTC>TTT		dual specificity phosphatase 16							72.0	84.0	80.0					12																	12630910		2203	4300	6503	SO:0001819	synonymous_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630910G>A	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.855C>T	12.37:g.12630910G>A						DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.F137F	p.F285F	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1487	-		Prostate(47;0.0687)	285			Tyrosine-protein phosphatase.		Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	c.855C>T	CCDS8650.1																																																																																				0.398	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1		NM_030640		60	152	0	0	0	0.01441	0	60	152		
ETNK1	55500	broad.mit.edu	37	12	22778128	22778128	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:22778128G>A	ENST00000266517.4	+	1	120	c.31G>A	c.(31-33)Gac>Aac	p.D11N	RP11-268P4.4_ENST00000542076.1_RNA|ETNK1_ENST00000335148.3_Missense_Mutation_p.D11N	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	11					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.D11N(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCCAGCTCCGACAACAGGAA	0.716																																					Esophageal Squamous(42;87 913 3224 6226 43339)	uc001rft.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(31-33)GAC>AAC		ethanolamine kinase 1 isoform A							10.0	13.0	12.0					12																	22778128		2146	4222	6368	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22778128G>A	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.31G>A	12.37:g.22778128G>A	ENSP00000266517:p.Asp11Asn					ETNK1_uc009ziz.2_Missense_Mutation_p.D11N|ETNK1_uc001rfs.2_Missense_Mutation_p.D11N	p.D11N	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN			1	53	+			11					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.31G>A	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533538	0.64972	.	.	ENSG00000139163	ENST00000266517;ENST00000381409;ENST00000335148	T	0.60424	0.19	3.97	1.06	0.20224	.	2.772270	0.01707	N	0.027498	T	0.37812	0.1017	N	0.08118	0	0.09310	N	1	B;B;B	0.25743	0.05;0.014;0.133	B;B;B	0.14578	0.007;0.004;0.011	T	0.34403	-0.9830	10	0.87932	D	0	3.6745	5.5523	0.17097	0.0961:0.0:0.558:0.3459	.	11;11;11	E9PD44;Q9HBU6;G5E969	.;EKI1_HUMAN;.	N	11	ENSP00000266517:D11N	ENSP00000266517:D11N	D	+	1	0	ETNK1	22669395	0.922000	0.31269	0.000000	0.03702	0.064000	0.16182	1.404000	0.34623	0.025000	0.15241	-1.411000	0.01122	GAC		0.716	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2		NM_018638		3	5	0	0	0	0.009096	0	3	5		
ASUN	55726	broad.mit.edu	37	12	27067466	27067466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:27067466C>G	ENST00000261191.7	-	12	1830	c.1294G>C	c.(1294-1296)Gac>Cac	p.D432H	ASUN_ENST00000539625.1_Missense_Mutation_p.D331H	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	432					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D432H(1)									TATCTGGGGTCTAGAAAAGGA	0.348																																						uc001rhk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1294-1296)GAC>CAC		hypothetical protein LOC55726							80.0	81.0	81.0					12																	27067466		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27067466C>G	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1294G>C	12.37:g.27067466C>G	ENSP00000261191:p.Asp432His					C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Missense_Mutation_p.D331H	p.D432H	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			12	1831	-	Colorectal(261;0.0847)		432					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1294G>C	CCDS8708.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.7|23.7|23.7	4.451230|4.451230|4.451230	0.84209|0.84209|0.84209	.|.|.	.|.|.	ENSG00000064102|ENSG00000064102|ENSG00000064102	ENST00000536232|ENST00000261191;ENST00000539625|ENST00000542392	.|T;T|.	.|0.45276|.	.|0.9;0.9|.	5.56|5.56|5.56	5.56|5.56|5.56	0.83823|0.83823|0.83823	.|.|.	.|0.097175|.	.|0.64402|.	.|D|.	.|0.000001|.	.|T|T	.|0.47783|0.47783	.|0.1464|0.1464	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.53688|0.53688|0.53688	D|D|D	0.999974|0.999974|0.999974	.|P|.	.|0.48998|.	.|0.918|.	.|P|.	.|0.57548|.	.|0.823|.	.|T|T	.|0.41716|0.41716	.|-0.9493|-0.9493	.|10|5	.|0.46703|.	.|T|.	.|0.11|.	.|-19.5326|-19.5326	19.9146|19.9146|19.9146	0.97053|0.97053|0.97053	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|432|.	.|Q9NVM9|.	.|M89BB_HUMAN|.	.|H|T	-1|432;331|145	.|ENSP00000261191:D432H;ENSP00000443724:D331H|.	.|ENSP00000261191:D432H|.	.|D|R	-|-|-	.|1|2	.|0|0	C12orf11|C12orf11|C12orf11	26958733|26958733|26958733	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.770000|7.770000|7.770000	0.85390|0.85390|0.85390	2.781000|2.781000|2.781000	0.95711|0.95711|0.95711	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	.|GAC|AGA		0.348	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164		17	63	0	0	0	0.00499	0	17	63		
KLHL42	57542	broad.mit.edu	37	12	27933977	27933977	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:27933977C>T	ENST00000381271.2	+	1	1025	c.714C>T	c.(712-714)ccC>ccT	p.P238P	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	238					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P238P(1)									ACCTTCCTCCCGACCTGGTCA	0.622																																						uc001rij.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(712-714)CCC>CCT		kelch domain containing 5							74.0	55.0	61.0					12																	27933977		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27933977C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.714C>T	12.37:g.27933977C>T						KLHDC5_uc009zjj.2_RNA	p.P238P	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			1	791	+	Lung SC(9;0.0873)		238			Kelch 2.		Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.714C>T	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610616	0.28712	.	.	ENSG00000087448	ENST00000543254	.	.	.	5.25	-8.58	0.00897	.	.	.	.	.	.	.	.	.	.	.	0.48511	D	0.999669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7017	0.05150	0.1566:0.1808:0.3874:0.2752	.	.	.	.	X	60	.	.	R	+	1	2	KLHDC5	27825244	0.000000	0.05858	0.530000	0.27963	0.990000	0.78478	-3.876000	0.00344	-1.603000	0.01597	-0.291000	0.09656	CGA		0.622	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1		NM_020782		7	15	0	0	0	0.001984	0	7	15		
TMTC1	83857	broad.mit.edu	37	12	29757224	29757224	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:29757224C>T	ENST00000539277.1	-	7	1195	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	TMTC1_ENST00000256062.5_Silent_p.E271E|TMTC1_ENST00000381224.2_Silent_p.E333E|TMTC1_ENST00000552618.1_Silent_p.E441E|TMTC1_ENST00000551659.1_Silent_p.E441E|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	379						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E271E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCTCCTTGTGCTCCAGTCTCT	0.468																																						uc001rjb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(811-813)GAG>GAA		transmembrane and tetratricopeptide repeat							101.0	95.0	97.0					12																	29757224		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29757224C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1137G>A	12.37:g.29757224C>T						TMTC1_uc001riz.2_Silent_p.E28E|TMTC1_uc001rja.2_Silent_p.E115E|TMTC1_uc001rjc.1_Silent_p.E333E	p.E271E	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			7	1287	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		379					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.813G>A	CCDS53772.1																																																																																				0.468	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1		NM_031920		9	30	0	0	0	0.004482	0	9	30		
DENND5B	160518	broad.mit.edu	37	12	31613259	31613259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:31613259G>A	ENST00000389082.5	-	4	1225	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	DENND5B_ENST00000306833.6_Nonsense_Mutation_p.Q356*|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.Q356*|DENND5B_ENST00000354285.4_Nonsense_Mutation_p.Q343*|DENND5B_ENST00000545147.1_5'UTR	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	321	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q321*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGTTGCCATTGAAATGGGAAC	0.438																																						uc001rki.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(961-963)CAA>TAA		DENN/MADD domain containing 5B							97.0	95.0	96.0					12																	31613259		1984	4154	6138	SO:0001587	stop_gained	160518					integral to membrane		g.chr12:31613259G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.961C>T	12.37:g.31613259G>A	ENSP00000373734:p.Gln321*					DENND5B_uc001rkh.1_Nonsense_Mutation_p.Q356*|DENND5B_uc009zjq.1_Nonsense_Mutation_p.Q240*|DENND5B_uc001rkj.2_Nonsense_Mutation_p.Q343*|DENND5B_uc001rkk.1_Nonsense_Mutation_p.Q243*	p.Q321*	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			4	1147	-			321			DENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Nonsense_Mutation	SNP	ENST00000389082.5	37	c.961C>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421960	0.83559	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	.	.	.	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-11.9246	18.0731	0.89417	0.0:0.0:1.0:0.0	.	.	.	.	X	321;356;356;343;273	.	ENSP00000306482:Q356X	Q	-	1	0	DENND5B	31504526	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.361000	0.79497	2.569000	0.86673	0.655000	0.94253	CAA		0.438	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		23	33	0	0	0	0.014323	0	23	33		
PDZRN4	29951	broad.mit.edu	37	12	41967407	41967407	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:41967407C>T	ENST00000402685.2	+	10	2834	c.2826C>T	c.(2824-2826)agC>agT	p.S942S	PDZRN4_ENST00000539469.2_Silent_p.S684S|PDZRN4_ENST00000298919.7_Silent_p.S682S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	942							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S942S(1)|p.S684S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTACTGGAGCAAAGAGGAGA	0.542																																						uc010skn.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2227-2229)AGC>AGT		PDZ domain containing RING finger 4 isoform 2							97.0	91.0	93.0					12																	41967407		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967407C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2826C>T	12.37:g.41967407C>T						PDZRN4_uc001rmq.3_Silent_p.S684S|PDZRN4_uc009zjz.2_Silent_p.S682S|PDZRN4_uc001rmr.2_Silent_p.S569S	p.S743S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2297	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	942					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.2229C>T	CCDS53777.1																																																																																				0.542	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1		NM_013377		17	41	0	0	0	0.00499	0	17	41		
PRICKLE1	144165	broad.mit.edu	37	12	42854114	42854114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:42854114C>A	ENST00000455697.1	-	8	2278	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.E665*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.E665*|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.E665*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.E665*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	665	Arg/His-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E665*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GATCCCCTCTCTTCAAAATTG	0.483																																						uc010skv.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1993-1995)GAG>TAG		prickle homolog 1							52.0	54.0	53.0					12																	42854114		2203	4300	6503	SO:0001587	stop_gained	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854114C>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1993G>T	12.37:g.42854114C>A	ENSP00000401060:p.Glu665*					PRICKLE1_uc001rnl.2_Nonsense_Mutation_p.E665*|PRICKLE1_uc010skw.1_Nonsense_Mutation_p.E665*|PRICKLE1_uc001rnm.2_Nonsense_Mutation_p.E665*|PRICKLE1_uc001rnk.1_5'Flank	p.E665*	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2280	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		665			Arg/His-rich.		Q14C83|Q71QF8|Q96N00	Nonsense_Mutation	SNP	ENST00000455697.1	37	c.1993G>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	40	8.405161	0.98796	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	.	.	.	5.53	5.53	0.82687	.	0.093168	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.2653	19.8228	0.96604	0.0:1.0:0.0:0.0	.	.	.	.	X	665	.	ENSP00000345064:E665X	E	-	1	0	PRICKLE1	41140381	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.228000	0.78079	2.759000	0.94783	0.650000	0.86243	GAG		0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1				17	79	1	0	0.000566183	0.00499	0.000575326	17	79		
ANO6	196527	broad.mit.edu	37	12	45782045	45782045	+	Missense_Mutation	SNP	G	G	A	rs190060422	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:45782045G>A	ENST00000320560.8	+	11	1469	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	ANO6_ENST00000441606.2_Missense_Mutation_p.E405K|ANO6_ENST00000435642.1_Missense_Mutation_p.E423K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.E423K|ANO6_ENST00000423947.3_Missense_Mutation_p.E444K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	423					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.E423K(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACCAGAATACGAAGCACGATG	0.443																																						uc001roo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|kidney(1)	2						c.(1267-1269)GAA>AAA		anoctamin 6 isoform a		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	192.0	178.0	182.0		1267,1213,1267,1267,1330	3.7	1.0	12		182	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	ANO6	NM_001025356.2,NM_001142678.1,NM_001142679.1,NM_001142680.1,NM_001204803.1	56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	423/911,405/893,423/930,423/930,444/932	45782045	1,13005	2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45782045G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1267G>A	12.37:g.45782045G>A	ENSP00000320087:p.Glu423Lys					ANO6_uc010sld.1_Missense_Mutation_p.E423K|ANO6_uc010sle.1_Missense_Mutation_p.E423K|ANO6_uc010slf.1_Missense_Mutation_p.E444K|ANO6_uc010slg.1_Missense_Mutation_p.E405K	p.E423K	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			11	1602	+			423			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.1267G>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968334	0.92855	0.0	1.16E-4	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	4.6	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	L	0.55103	1.725	0.58432	D	0.999997	D;P;D;D	0.89917	0.998;0.9;1.0;0.981	D;P;D;P	0.83275	0.954;0.564;0.996;0.628	T	0.72666	-0.4224	10	0.40728	T	0.16	.	13.4699	0.61276	0.0771:0.0:0.9229:0.0	.	405;444;423;423	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	423;444;423;423;405	ENSP00000391417:E423K;ENSP00000409126:E444K;ENSP00000413840:E423K;ENSP00000320087:E423K;ENSP00000413137:E405K	ENSP00000320087:E423K	E	+	1	0	ANO6	44068312	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.420000	0.97426	1.254000	0.44035	0.655000	0.94253	GAA		0.443	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1		XM_113743		55	128	0	0	0	0.01441	0	55	128		
TROAP	10024	broad.mit.edu	37	12	49721057	49721057	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49721057C>G	ENST00000257909.3	+	8	911	c.835C>G	c.(835-837)Ctt>Gtt	p.L279V	TROAP_ENST00000547923.1_5'UTR|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Missense_Mutation_p.L279V	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	279					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.L279V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGTGGCCTCTCTTGGTCTGGC	0.512																																						uc001rtx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(835-837)CTT>GTT		tastin isoform 1							133.0	117.0	122.0					12																	49721057		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49721057C>G	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.835C>G	12.37:g.49721057C>G	ENSP00000257909:p.Leu279Val					TROAP_uc009zlh.2_Missense_Mutation_p.L279V|TROAP_uc001rty.2_5'UTR	p.L279V	NM_005480	NP_005471	Q12815	TROAP_HUMAN			8	1002	+			279					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.835C>G	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880694	0.51801	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.13	3.28	0.37604	.	0.138762	0.32769	N	0.005666	T	0.33411	0.0862	L	0.47190	1.495	0.23425	N	0.997706	P;P	0.46064	0.872;0.872	P;P	0.47626	0.552;0.552	T	0.08827	-1.0703	9	0.34782	T	0.22	-8.1538	6.3479	0.21359	0.0:0.7148:0.1887:0.0965	.	279;279	F8W130;Q12815	.;TROAP_HUMAN	V	279;162;279;273	.	ENSP00000257909:L279V	L	+	1	0	TROAP	48007324	0.012000	0.17670	0.119000	0.21687	0.948000	0.59901	0.721000	0.25911	1.466000	0.48025	0.655000	0.94253	CTT		0.512	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1		NM_005480		21	146	0	0	0	0.00278	0	21	146		
SPATS2	65244	broad.mit.edu	37	12	49890687	49890687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49890687C>T	ENST00000553127.1	+	9	1111	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	SPATS2_ENST00000321898.6_Nonsense_Mutation_p.Q200*|SPATS2_ENST00000552918.1_Nonsense_Mutation_p.Q200*|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	200						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Q200*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TCACAATTCTCAACAACCCAG	0.433																																						uc001rud.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	breast(1)	1						c.(598-600)CAA>TAA		spermatogenesis associated, serine-rich 2							132.0	122.0	125.0					12																	49890687		2203	4300	6503	SO:0001587	stop_gained	65244					cytoplasm		g.chr12:49890687C>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.598C>T	12.37:g.49890687C>T	ENSP00000448228:p.Gln200*					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q200*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q200*|SPATS2_uc001rug.2_Nonsense_Mutation_p.Q200*	p.Q200*	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			8	1587	+			200					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Nonsense_Mutation	SNP	ENST00000553127.1	37	c.598C>T	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	C	42	9.431054	0.99169	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.23	5.23	0.72850	.	0.667620	0.15218	N	0.274101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-11.2305	14.3029	0.66364	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000326841:Q200X	Q	+	1	0	SPATS2	48176954	0.911000	0.30947	0.478000	0.27316	0.687000	0.40016	1.884000	0.39668	2.450000	0.82876	0.563000	0.77884	CAA		0.433	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1		NM_023071		62	126	0	0	0	0.01441	0	62	126		
SPATS2	65244	broad.mit.edu	37	12	49918549	49918549	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:49918549C>T	ENST00000553127.1	+	14	1709	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	SPATS2_ENST00000321898.6_Missense_Mutation_p.S399F|SPATS2_ENST00000552918.1_Missense_Mutation_p.S399F			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	399	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S399F(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGATGCCTCTGCTGCTTCC	0.493																																						uc001rud.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1195-1197)TCT>TTT		spermatogenesis associated, serine-rich 2							202.0	185.0	191.0					12																	49918549		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49918549C>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1196C>T	12.37:g.49918549C>T	ENSP00000448228:p.Ser399Phe					SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.S399F|SPATS2_uc001ruf.2_Missense_Mutation_p.S399F|SPATS2_uc001rug.2_Missense_Mutation_p.S399F	p.S399F	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN			13	2185	+			399			Ser-rich.		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.1196C>T	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047139	0.75846	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.64	4.75	0.60458	.	0.758088	0.13154	N	0.409636	T	0.51329	0.1668	L	0.36672	1.1	0.80722	D	1	P	0.47409	0.895	P	0.47470	0.548	T	0.51220	-0.8733	9	0.62326	D	0.03	-0.4578	12.618	0.56588	0.0:0.9195:0.0:0.0805	.	399	Q86XZ4	SPAS2_HUMAN	F	399	.	ENSP00000326841:S399F	S	+	2	0	SPATS2	48204816	0.999000	0.42202	0.986000	0.45419	0.987000	0.75469	2.039000	0.41193	1.527000	0.49086	0.655000	0.94253	TCT		0.493	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1		NM_023071		63	136	0	0	0	0.01441	0	63	136		
TMPRSS12	283471	broad.mit.edu	37	12	51279160	51279160	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:51279160G>A	ENST00000398458.3	+	4	816	c.784G>A	c.(784-786)Gat>Aat	p.D262N	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.D262N	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	262	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.D262N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TGGAGCTTTTGATACTTGCAG	0.378																																						uc001rwx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(784-786)GAT>AAT		transmembrane protease, serine 12 precursor							188.0	180.0	183.0					12																	51279160		1830	4089	5919	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279160G>A	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.784G>A	12.37:g.51279160G>A	ENSP00000381476:p.Asp262Asn					TMPRSS12_uc001rwy.2_Missense_Mutation_p.D262N	p.D262N	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN			4	831	+			262			Peptidase S1.|Extracellular (Potential).		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.784G>A	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358841	0.82353	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	T;T	0.66815	-0.23;0.31	5.22	5.22	0.72569	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000014	D	0.82545	0.5060	M	0.82517	2.595	0.40803	D	0.983352	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85499	0.1190	10	0.87932	D	0	-30.2421	14.6291	0.68643	0.0:0.0:1.0:0.0	.	262;262	F8WBX2;Q86WS5	.;TMPSC_HUMAN	N	262	ENSP00000447259:D262N;ENSP00000381476:D262N	ENSP00000381476:D262N	D	+	1	0	TMPRSS12	49565427	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	4.657000	0.61490	2.596000	0.87737	0.557000	0.71058	GAT		0.378	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1		NM_182559		92	223	0	0	0	0.01441	0	92	223		
DAZAP2	9802	broad.mit.edu	37	12	51634204	51634204	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:51634204C>G	ENST00000412716.3	+	2	707	c.91C>G	c.(91-93)Cag>Gag	p.Q31E	DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000604900.1_Missense_Mutation_p.Q31E|DAZAP2_ENST00000449723.3_Missense_Mutation_p.Q31E|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000549555.1_Missense_Mutation_p.Q31E|DAZAP2_ENST00000549732.2_Missense_Mutation_p.Q31E|DAZAP2_ENST00000425012.2_Missense_Mutation_p.Q31E|DAZAP2_ENST00000439799.2_Missense_Mutation_p.Q31E			Q15038	DAZP2_HUMAN	DAZ associated protein 2	31	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)	p.Q31E(1)		haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GCATCTTCCTCAGGCTCCACC	0.488																																						uc010snd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(91-93)CAG>GAG		DAZ associated protein 2 isoform c							145.0	130.0	135.0					12																	51634204		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51634204C>G	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.91C>G	12.37:g.51634204C>G	ENSP00000394699:p.Gln31Glu					DAZAP2_uc001ryb.2_Missense_Mutation_p.Q31E|DAZAP2_uc010snc.1_Missense_Mutation_p.Q31E|DAZAP2_uc010sne.1_Missense_Mutation_p.Q31E|DAZAP2_uc010snf.1_Missense_Mutation_p.Q31E	p.Q31E	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN			2	275	+			31			Pro-rich.		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.91C>G	CCDS8809.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569104	0.86439	.	.	ENSG00000183283	ENST00000412716;ENST00000549555;ENST00000439799;ENST00000425012;ENST00000549732;ENST00000449723	T;T;T;T;T;T	0.52983	0.9;0.64;1.01;0.69;0.98;0.85	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	L	0.29908	0.895	0.80722	D	1	P;P;D;P;P	0.56035	0.956;0.646;0.974;0.646;0.713	P;P;D;P;P	0.67725	0.899;0.523;0.953;0.523;0.585	T	0.55854	-0.8075	10	0.46703	T	0.11	-4.1413	17.5733	0.87941	0.0:1.0:0.0:0.0	.	31;31;31;31;31	B4DDT5;C9JP84;F8VU62;C9JA96;Q15038	.;.;.;.;DAZP2_HUMAN	E	31	ENSP00000394699:Q31E;ENSP00000448051:Q31E;ENSP00000398804:Q31E;ENSP00000408251:Q31E;ENSP00000446554:Q31E;ENSP00000412812:Q31E	ENSP00000394699:Q31E	Q	+	1	0	DAZAP2	49920471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.213000	0.72194	2.767000	0.95098	0.561000	0.74099	CAG		0.488	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2		NM_014764		21	115	0	0	0	0.010504	0	21	115		
MFSD5	84975	broad.mit.edu	37	12	53647277	53647277	+	Nonsense_Mutation	SNP	C	C	T	rs199567120	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:53647277C>T	ENST00000329548.4	+	2	849	c.658C>T	c.(658-660)Cga>Tga	p.R220*	MFSD5_ENST00000534842.1_Nonsense_Mutation_p.R327*	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	220					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R220*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTGGCCCTTCGAAACTGGGG	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20095	0.0		0.001	False		,,,				2504	0.0					uc001sci.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(658-660)CGA>TGA		major facilitator superfamily domain containing							56.0	60.0	58.0					12																	53647277		2203	4300	6503	SO:0001587	stop_gained	84975				transport	integral to membrane		g.chr12:53647277C>T	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.658C>T	12.37:g.53647277C>T	ENSP00000332624:p.Arg220*					MFSD5_uc001sch.1_Nonsense_Mutation_p.R327*	p.R220*	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN			2	849	+			220					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Nonsense_Mutation	SNP	ENST00000329548.4	37	c.658C>T	CCDS8851.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.71	3.681201	0.68042	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	.	.	.	4.25	2.23	0.28157	.	0.588015	0.16583	N	0.208082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	0.0807	4.5407	0.12056	0.1818:0.5999:0.0:0.2183	.	.	.	.	X	327;327;327;220	.	ENSP00000331231:R327X	R	+	1	2	MFSD5	51933544	0.232000	0.23762	0.397000	0.26308	0.856000	0.48823	1.404000	0.34623	1.002000	0.39104	0.561000	0.74099	CGA		0.662	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1		NM_032889		32	79	0	0	0	0.003271	0	32	79		
ESPL1	9700	broad.mit.edu	37	12	53677897	53677897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:53677897G>A	ENST00000257934.4	+	17	3224	c.3133G>A	c.(3133-3135)Gat>Aat	p.D1045N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1045N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1045					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.D1045N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAATGACATTGATCTCTGTCA	0.542																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|kidney(1)|skin(1)	3						c.(3133-3135)GAT>AAT		separase							231.0	209.0	216.0					12																	53677897		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53677897G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3133G>A	12.37:g.53677897G>A	ENSP00000257934:p.Asp1045Asn					ESPL1_uc001scj.2_Missense_Mutation_p.D720N|ESPL1_uc010soe.1_Missense_Mutation_p.D256N	p.D1045N	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			17	3224	+			1045						Missense_Mutation	SNP	ENST00000257934.4	37	c.3133G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986326	0.93044	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.16597	2.33;2.33	5.55	5.55	0.83447	.	0.148867	0.64402	D	0.000013	T	0.38321	0.1036	M	0.70595	2.14	0.36763	D	0.883406	D;D	0.71674	0.998;0.994	D;P	0.66351	0.943;0.829	T	0.37502	-0.9703	10	0.66056	D	0.02	.	12.5448	0.56193	0.0:0.1667:0.8333:0.0	.	256;1045	B4DRU1;Q14674	.;ESPL1_HUMAN	N	1045;720;1045	ENSP00000257934:D1045N;ENSP00000449831:D1045N	ENSP00000257934:D1045N	D	+	1	0	ESPL1	51964164	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	6.194000	0.72082	2.894000	0.99253	0.655000	0.94253	GAT		0.542	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		77	222	0	0	0	0.01441	0	77	222		
HOXC6	3223	broad.mit.edu	37	12	54423560	54423560	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:54423560C>T	ENST00000243108.4	+	2	686	c.522C>T	c.(520-522)atC>atT	p.I174I	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000394331.3_Silent_p.I92I	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	174					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I174I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCATCGAGATCGCCAACGCGC	0.562																																						uc001sev.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(520-522)ATC>ATT		homeobox C6 isoform 1							91.0	97.0	95.0					12																	54423560		2203	4300	6503	SO:0001819	synonymous_variant	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54423560C>T		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.522C>T	12.37:g.54423560C>T						HOXC6_uc001ses.2_Silent_p.I92I|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	p.I174I	NM_004503	NP_004494	P09630	HXC6_HUMAN			2	634	+			174			Homeobox.		B2RBV2|Q6DK09	Silent	SNP	ENST00000243108.4	37	c.522C>T	CCDS8871.1																																																																																				0.562	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2				24	92	0	0	0	0.00333	0	24	92		
DGKA	1606	broad.mit.edu	37	12	56334172	56334172	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56334172C>T	ENST00000331886.5	+	11	1327	c.873C>T	c.(871-873)atC>atT	p.I291I	DGKA_ENST00000551156.1_Silent_p.I291I|DGKA_ENST00000394147.1_Silent_p.I291I|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	291					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.I291I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	AGATCCGGATCTACCACAGTC	0.582											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sij.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(871-873)ATC>ATT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						120.0	114.0	116.0					12																	56334172		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334172C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.873C>T	12.37:g.56334172C>T			OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_uc009zoc.1_Silent_p.I291I|DGKA_uc001sih.1_Silent_p.I179I|DGKA_uc001sii.1_Silent_p.I149I|DGKA_uc009zod.1_Silent_p.I210I|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.I291I|DGKA_uc001sil.2_Silent_p.I291I|DGKA_uc001sim.2_Silent_p.I291I|DGKA_uc001sin.2_Silent_p.I291I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Silent_p.I33I	p.I291I	NM_001345	NP_001336	P23743	DGKA_HUMAN			11	1137	+			291			Phorbol-ester/DAG-type 2.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.873C>T	CCDS8896.1																																																																																				0.582	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1				38	84	0	0	0	0.005524	0	38	84		
ESYT1	23344	broad.mit.edu	37	12	56536448	56536448	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56536448C>T	ENST00000394048.5	+	26	3084	c.2820C>T	c.(2818-2820)ctC>ctT	p.L940L	ESYT1_ENST00000541590.1_Silent_p.L950L|ESYT1_ENST00000267113.4_Silent_p.L950L|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	940					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L940L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AACCAGAGCTCTCGGGGGGAC	0.602																																						uc001sjq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(2818-2820)CTC>CTT		extended synaptotagmin-like protein 1							47.0	51.0	50.0					12																	56536448		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56536448C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2820C>T	12.37:g.56536448C>T						ESYT1_uc001sjr.2_Silent_p.L950L	p.L940L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			26	2870	+			940					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.2820C>T	CCDS8904.1																																																																																				0.602	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1		NM_015292		11	60	0	0	0	0.008291	0	11	60		
TIMELESS	8914	broad.mit.edu	37	12	56816695	56816695	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:56816695A>C	ENST00000553532.1	-	19	2524	c.2374T>G	c.(2374-2376)Ttg>Gtg	p.L792V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.L791V|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.L792V(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCCAGAACAACAGCTCCACA	0.502																																						uc001slf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(2374-2376)TTG>GTG		timeless homolog							93.0	94.0	93.0					12																	56816695		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56816695A>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2374T>G	12.37:g.56816695A>C	ENSP00000450607:p.Leu792Val						p.L792V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			19	2542	-			792						Missense_Mutation	SNP	ENST00000553532.1	37	c.2374T>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623622	0.66901	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.36340	1.26;1.26	5.47	1.58	0.23477	Timeless C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.56455	0.1986	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57093	-0.7870	10	0.72032	D	0.01	-11.7809	8.9143	0.35572	0.3211:0.0:0.6789:0.0	.	792	Q9UNS1	TIM_HUMAN	V	791;792	ENSP00000229201:L791V;ENSP00000450607:L792V	ENSP00000229201:L792V	L	-	1	2	TIMELESS	55102962	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.563000	0.53784	0.370000	0.24538	-0.242000	0.12053	TTG		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		47	102	0	0	0	0.011902	0	47	102		
MYO1A	4640	broad.mit.edu	37	12	57436895	57436895	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57436895G>C	ENST00000442789.2	-	13	1346	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	MYO1A_ENST00000300119.3_Silent_p.L353L|MYO1A_ENST00000544473.1_Silent_p.L191L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	353	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L353L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCCAGTCAAAGAGGCGGCTGT	0.547																																						uc001smw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(1057-1059)CTC>CTG		myosin IA							108.0	96.0	100.0					12																	57436895		2203	4300	6503	SO:0001819	synonymous_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57436895G>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1059C>G	12.37:g.57436895G>C						MYO1A_uc010sqz.1_Silent_p.L191L|MYO1A_uc009zpd.2_Silent_p.L353L	p.L353L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			12	1302	-			353			Myosin head-like.		Q9UQD7	Silent	SNP	ENST00000442789.2	37	c.1059C>G	CCDS8929.1																																																																																				0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2		NM_005379		6	52	0	0	0	0.001168	0	6	52		
MBD6	114785	broad.mit.edu	37	12	57920498	57920498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57920498G>A	ENST00000355673.3	+	7	1926	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	MBD6_ENST00000431731.2_Missense_Mutation_p.E524K	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	524	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E524K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCAGCCCTGAGCAGGGCCT	0.652																																						uc001soj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)|ovary(1)	4						c.(1570-1572)GAG>AAG		methyl-CpG binding domain protein 6							50.0	48.0	49.0					12																	57920498		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920498G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1570G>A	12.37:g.57920498G>A	ENSP00000347896:p.Glu524Lys					MBD6_uc001sok.1_Missense_Mutation_p.E391K|MBD6_uc001sol.1_RNA	p.E524K	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			7	1794	+			524			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1570G>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948864	0.53186	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.07	4.07	0.47477	.	0.257567	0.27420	N	0.019450	T	0.33644	0.0870	N	0.08118	0	0.37608	D	0.92081	D;D	0.54964	0.969;0.969	P;P	0.46975	0.533;0.533	T	0.37865	-0.9687	9	0.33141	T	0.24	-5.7002	15.5573	0.76208	0.0:0.0:1.0:0.0	.	524;524	Q6P0P0;Q96DN6	.;MBD6_HUMAN	K	524	.	ENSP00000347896:E524K	E	+	1	0	MBD6	56206765	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.768000	0.68858	2.283000	0.76528	0.561000	0.74099	GAG		0.652	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				24	84	0	0	0	0.00278	0	24	84		
OS9	10956	broad.mit.edu	37	12	58114292	58114292	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:58114292C>T	ENST00000315970.7	+	14	1910	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	OS9_ENST00000435406.2_Silent_p.F516F|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Silent_p.F568F|OS9_ENST00000389146.6_Silent_p.F608F|OS9_ENST00000413095.2_Silent_p.F362F|OS9_ENST00000257966.8_Silent_p.F569F|OS9_ENST00000439210.2_Silent_p.F494F|OS9_ENST00000389142.5_Silent_p.F553F|OS9_ENST00000551035.1_Silent_p.F536F	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	623					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.F623F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGATCTTCTTCAATATCTTGG	0.557																																						uc001spj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1867-1869)TTC>TTT		osteosarcoma amplified 9, endoplasmic reticulum							76.0	76.0	76.0					12																	58114292		2203	4300	6503	SO:0001819	synonymous_variant	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58114292C>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1869C>T	12.37:g.58114292C>T						OS9_uc010srx.1_Silent_p.F362F|OS9_uc001spk.2_Silent_p.F608F|OS9_uc001spl.2_Silent_p.F568F|OS9_uc001spm.2_Silent_p.F553F|OS9_uc001spn.2_Silent_p.F569F|OS9_uc010sry.1_Silent_p.F536F|OS9_uc010srz.1_Silent_p.F494F	p.F623F	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		14	1928	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		623					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	ENST00000315970.7	37	c.1869C>T	CCDS31843.1																																																																																				0.557	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1		NM_006812		5	51	0	0	0	0.000602	0	5	51		
RAP1B	5908	broad.mit.edu	37	12	69044231	69044231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:69044231G>C	ENST00000250559.9	+	3	340	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000540209.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000543697.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000537460.1_Missense_Mutation_p.E37Q|RAP1B_ENST00000341355.5_Missense_Mutation_p.E37Q|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000393436.5_Missense_Mutation_p.E37Q|RAP1B_ENST00000542145.1_Missense_Mutation_p.E37Q	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	37	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.E37Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCCTACGATAGAAGATTCTTA	0.234																																						uc001sub.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(109-111)GAA>CAA		SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;							25.0	28.0	27.0					12																	69044231		2174	4271	6445	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69044231G>C		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.109G>C	12.37:g.69044231G>C	ENSP00000250559:p.Glu37Gln					RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.E37Q|RAP1B_uc010stf.1_Missense_Mutation_p.E37Q|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.E37Q	p.E37Q	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	3	272	+	Breast(13;1.24e-05)		37	E->A: Strong reduction in nucleotide exchange with EPAC2.		Effector region (Probable).		B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.109G>C	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612258	0.87258	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.35	5.35	0.76521	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84991	0.5595	M	0.77616	2.38	0.80722	D	1	P;D;P	0.89917	0.878;1.0;0.883	P;D;P	0.91635	0.687;0.999;0.553	D	0.84086	0.0387	9	.	.	.	.	19.9476	0.97189	0.0:0.0:1.0:0.0	.	37;37;37	B4DW94;B4DQI8;P61224	.;.;RAP1B_HUMAN	Q	37	ENSP00000250559:E37Q;ENSP00000377085:E37Q;ENSP00000401095:E37Q;ENSP00000445138:E37Q;ENSP00000444786:E37Q;ENSP00000441275:E37Q;ENSP00000439966:E37Q;ENSP00000437415:E37Q;ENSP00000438088:E37Q;ENSP00000441952:E37Q;ENSP00000444060:E37Q;ENSP00000446318:E37Q;ENSP00000440466:E37Q;ENSP00000440014:E37Q;ENSP00000444924:E37Q;ENSP00000440635:E37Q;ENSP00000440708:E37Q;ENSP00000438311:E37Q;ENSP00000443851:E37Q	.	E	+	1	0	RAP1B	67330498	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.890000	0.99128	0.585000	0.79938	GAA		0.234	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3		NM_001010942		6	50	0	0	0	0.00308	0	6	50		
NUP107	57122	broad.mit.edu	37	12	69126474	69126474	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:69126474G>T	ENST00000229179.4	+	23	2388	c.2056G>T	c.(2056-2058)Gca>Tca	p.A686S	NUP107_ENST00000539906.1_Missense_Mutation_p.A657S|NUP107_ENST00000378905.2_Missense_Mutation_p.A447S|NUP107_ENST00000401003.3_3'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	686					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.A686S(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCGCAGAGGGCAGAAGCACT	0.373																																						uc001suf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2056-2058)GCA>TCA		nucleoporin 107kDa							69.0	79.0	76.0					12																	69126474		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69126474G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2056G>T	12.37:g.69126474G>T	ENSP00000229179:p.Ala686Ser					NUP107_uc001sug.2_Missense_Mutation_p.A445S|NUP107_uc010stj.1_Missense_Mutation_p.A657S	p.A686S	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		23	2171	+	Breast(13;6.25e-06)		686					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.2056G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429982	0.43122	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.2	4.29	0.51040	.	0.094645	0.64402	N	0.000001	T	0.41328	0.1154	L	0.39245	1.2	0.24980	N	0.991609	B;B;B	0.13594	0.008;0.001;0.003	B;B;B	0.24974	0.057;0.012;0.031	T	0.24621	-1.0155	8	.	.	.	-14.5258	15.6928	0.77469	0.0:0.0:0.8616:0.1384	.	657;447;686	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	S	686;447;657	.	.	A	+	1	0	NUP107	67412741	1.000000	0.71417	0.992000	0.48379	0.678000	0.39670	5.713000	0.68415	1.474000	0.48178	0.655000	0.94253	GCA		0.373	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401		22	43	1	0	4.26978e-12	0.00333	4.44117e-12	22	43		
BEST3	144453	broad.mit.edu	37	12	70088210	70088210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:70088210C>G	ENST00000330891.5	-	3	413	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.E63Q|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	63					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.E63Q(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GATAATTTTTCAAAGTAACGT	0.378																																						uc001svg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(187-189)GAA>CAA		vitelliform macular dystrophy 2-like 3 isoform							104.0	101.0	102.0					12																	70088210		1906	4132	6038	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70088210C>G	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.187G>C	12.37:g.70088210C>G	ENSP00000332413:p.Glu63Gln					BEST3_uc001svd.1_Missense_Mutation_p.E63Q|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron	p.E63Q	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		3	414	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		63			Extracellular (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.187G>C	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400814	0.83120	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98684	-5.07;-5.07;-5.07	5.97	5.97	0.96955	.	0.046400	0.85682	D	0.000000	D	0.99426	0.9797	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.984	D	0.98748	1.0719	10	0.72032	D	0.01	-24.178	20.4388	0.99107	0.0:1.0:0.0:0.0	.	63;63	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	Q	63	ENSP00000329064:E63Q;ENSP00000332413:E63Q;ENSP00000446575:E63Q	ENSP00000332413:E63Q	E	-	1	0	BEST3	68374477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.336000	0.79245	2.836000	0.97738	0.655000	0.94253	GAA		0.378	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439		8	41	0	0	0	0.00308	0	8	41		
KCNC2	3747	broad.mit.edu	37	12	75437006	75437006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:75437006C>T	ENST00000549446.1	-	5	2476	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000350228.2_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000540018.1_Missense_Mutation_p.R544Q|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000550433.1_Intron|KCNC2_ENST00000341669.3_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	599					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R599Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTTTAAGCTTCGGGATTTTTC	0.433																																						uc001sxg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1795-1797)CGA>CAA		Shaw-related voltage-gated potassium channel							114.0	114.0	114.0					12																	75437006		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75437006C>T	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1796G>A	12.37:g.75437006C>T	ENSP00000449253:p.Arg599Gln					KCNC2_uc009zry.2_Intron|KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Missense_Mutation_p.R544Q	p.R599Q	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			5	2340	-			599			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1796G>A	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435492	0.43224	.	.	ENSG00000166006	ENST00000549446;ENST00000540018	D;D	0.97811	-4.46;-4.55	6.17	6.17	0.99709	.	1.500820	0.04331	N	0.352428	D	0.97980	0.9335	L	0.42245	1.32	0.80722	D	1	D;B	0.76494	0.999;0.336	P;B	0.57009	0.811;0.008	D	0.90451	0.4439	10	0.14252	T	0.57	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	544;599	F5H030;Q96PR1	.;KCNC2_HUMAN	Q	599;544	ENSP00000449253:R599Q;ENSP00000438423:R544Q	ENSP00000438423:R544Q	R	-	2	0	KCNC2	73723273	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		0.433	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2		NM_153748		12	72	0	0	0	0.001855	0	12	72		
LRRIQ1	84125	broad.mit.edu	37	12	85547824	85547824	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:85547824T>C	ENST00000393217.2	+	23	4733	c.4672T>C	c.(4672-4674)Ttg>Ctg	p.L1558L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1558								p.L1558L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAGCAAATGTTGAAGAGGGC	0.289																																						uc001tac.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4672-4674)TTG>CTG		leucine-rich repeats and IQ motif containing 1							33.0	32.0	32.0					12																	85547824		1785	4039	5824	SO:0001819	synonymous_variant	84125							g.chr12:85547824T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4672T>C	12.37:g.85547824T>C							p.L1558L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	23	4783	+			1558					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4672T>C	CCDS41816.1																																																																																				0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		9	28	0	0	0	0.008291	0	9	28		
DUSP6	1848	broad.mit.edu	37	12	89743278	89743278	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:89743278G>A	ENST00000279488.7	-	3	2130	c.899C>T	c.(898-900)tCa>tTa	p.S300L	DUSP6_ENST00000547291.1_Missense_Mutation_p.S175L|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Missense_Mutation_p.S154L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	300	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.S300L(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CACAGTGACTGAGCGGCTAAT	0.458																																					Colon(132;3456 5224)	uc001tay.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(898-900)TCA>TTA		dual specificity phosphatase 6 isoform a							95.0	90.0	92.0					12																	89743278		2203	4300	6503	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89743278G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.899C>T	12.37:g.89743278G>A	ENSP00000279488:p.Ser300Leu					DUSP6_uc001taz.2_Missense_Mutation_p.S154L	p.S300L	NM_001946	NP_001937	Q16828	DUS6_HUMAN			3	1379	-			300			Tyrosine-protein phosphatase.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.899C>T	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123711	0.77436	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000547291	T;T;T	0.72942	-0.7;-0.7;-0.7	5.68	4.78	0.61160	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.115379	0.64402	D	0.000009	D	0.92093	0.7494	H	0.99884	4.89	0.80722	D	1	D;D	0.76494	0.968;0.999	D;D	0.73708	0.978;0.981	D	0.96273	0.9200	10	0.87932	D	0	.	17.0082	0.86399	0.0:0.1274:0.8726:0.0	.	154;300	Q16828-2;Q16828	.;DUS6_HUMAN	L	300;154;175	ENSP00000279488:S300L;ENSP00000307835:S154L;ENSP00000449838:S175L	ENSP00000279488:S300L	S	-	2	0	DUSP6	88267409	1.000000	0.71417	0.967000	0.41034	0.940000	0.58332	9.779000	0.99018	1.517000	0.48917	-0.182000	0.12963	TCA		0.458	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2		NM_001946, NM_022652		35	99	0	0	0	0.003755	0	35	99		
ATP2B1	490	broad.mit.edu	37	12	90005096	90005096	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:90005096G>C	ENST00000428670.3	-	13	2577	c.2121C>G	c.(2119-2121)gtC>gtG	p.V707V	ATP2B1_ENST00000261173.2_Silent_p.V707V|ATP2B1_ENST00000359142.3_Silent_p.V707V|ATP2B1_ENST00000348959.3_Silent_p.V707V|ATP2B1_ENST00000393164.2_Silent_p.V450V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	707					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V707V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATCACCAGTGACCATCCGCA	0.358																																						uc001tbh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(2119-2121)GTC>GTG		plasma membrane calcium ATPase 1 isoform 1b							175.0	184.0	181.0					12																	90005096		2203	4300	6503	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90005096G>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2121C>G	12.37:g.90005096G>C						ATP2B1_uc001tbg.2_Silent_p.V707V|ATP2B1_uc001tbf.2_Silent_p.V377V	p.V707V	NM_001682	NP_001673	P20020	AT2B1_HUMAN			12	2302	-			707			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.2121C>G	CCDS9035.1																																																																																				0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		67	410	0	0	0	0.01441	0	67	410		
TMCC3	57458	broad.mit.edu	37	12	94965382	94965382	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:94965382G>A	ENST00000261226.4	-	4	1394	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	TMCC3_ENST00000551457.1_Silent_p.F390F	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	421						integral component of membrane (GO:0016021)		p.F421F(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGACAGTCATGAAGGCCAGGA	0.532																																						uc001tdj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1261-1263)TTC>TTT		transmembrane and coiled-coil domain family 3							261.0	236.0	245.0					12																	94965382		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94965382G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1263C>T	12.37:g.94965382G>A						TMCC3_uc001tdi.2_Silent_p.F390F	p.F421F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1381	-			421			Helical; (Potential).		Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.1263C>T	CCDS31877.1																																																																																				0.532	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1		NM_020698		29	75	0	0	0	0.008361	0	29	75		
PARPBP	55010	broad.mit.edu	37	12	102559617	102559617	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:102559617C>T	ENST00000358383.5	+	6	822	c.777C>T	c.(775-777)ttC>ttT	p.F259F	PARPBP_ENST00000541394.1_Silent_p.F336F|PARPBP_ENST00000392911.2_Silent_p.F178F|PARPBP_ENST00000543784.1_Silent_p.F145F|PARPBP_ENST00000378128.3_Silent_p.F259F|PARPBP_ENST00000327680.2_Silent_p.F178F|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	259					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F178F(1)|p.F259F(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTATTAATTTCATTGACAAAT	0.303																																						uc001tjf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(775-777)TTC>TTT		hypothetical protein LOC55010							91.0	96.0	94.0					12																	102559617		2203	4299	6502	SO:0001819	synonymous_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102559617C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.777C>T	12.37:g.102559617C>T						C12orf48_uc001tjg.2_Silent_p.F178F|C12orf48_uc010swa.1_Silent_p.F336F|C12orf48_uc001tjh.2_Silent_p.F178F|C12orf48_uc010swb.1_Silent_p.F145F|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Silent_p.F259F|C12orf48_uc009zud.2_Silent_p.F259F	p.F259F	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			6	889	+			259					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	c.777C>T	CCDS9090.2																																																																																				0.303	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915		23	166	0	0	0	0.012319	0	23	166		
SLC41A2	84102	broad.mit.edu	37	12	105282830	105282830	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:105282830G>A	ENST00000258538.3	-	4	988	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	287					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.F287F(1)|p.F204F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						GAGATGCAATGAAGGCAGTTG	0.353																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(859-861)TTC>TTT		solute carrier family 41, member 2							103.0	104.0	104.0					12																	105282830		2203	4300	6503	SO:0001819	synonymous_variant	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105282830G>A	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.861C>T	12.37:g.105282830G>A							p.F287F	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			4	1028	-			287			Helical; (Potential).		Q3KP68|Q9H0E5	Silent	SNP	ENST00000258538.3	37	c.861C>T	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735434	0.15574	.	.	ENSG00000136052	ENST00000437220	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.64897	0.2640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62751	-0.6788	4	.	.	.	-6.1535	12.7872	0.57512	0.075:0.0:0.925:0.0	.	.	.	.	L	143	.	.	S	-	2	0	SLC41A2	103806960	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.462000	0.60121	2.612000	0.88384	0.591000	0.81541	TCA		0.353	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3		NM_032148		59	154	0	0	0	0.01441	0	59	154		
KIAA1033	23325	broad.mit.edu	37	12	105558049	105558049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:105558049G>A	ENST00000332180.5	+	31	3405	c.3318G>A	c.(3316-3318)atG>atA	p.M1106I	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033									p.M1106I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TACAAACCATGAATCTCACTC	0.408																																						uc001tld.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|central_nervous_system(1)	2						c.(3316-3318)ATG>ATA		hypothetical protein LOC23325							84.0	83.0	83.0					12																	105558049		1892	4113	6005	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105558049G>A	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3318G>A	12.37:g.105558049G>A	ENSP00000328062:p.Met1106Ile					KIAA1033_uc010swr.1_Missense_Mutation_p.M1107I|KIAA1033_uc010sws.1_Missense_Mutation_p.M918I	p.M1106I	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			31	3405	+			1106						Missense_Mutation	SNP	ENST00000332180.5	37	c.3318G>A	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078878	0.76528	.	.	ENSG00000136051	ENST00000332180	T	0.77229	-1.08	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.76574	2.34	0.80722	D	1	B;B	0.33583	0.418;0.418	B;B	0.33960	0.173;0.173	T	0.78565	-0.2155	10	0.46703	T	0.11	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1107;1106	B7ZKT9;Q2M389	.;WASH7_HUMAN	I	1106	ENSP00000328062:M1106I	ENSP00000328062:M1106I	M	+	3	0	KIAA1033	104082179	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	ATG		0.408	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4		NM_015275		14	52	0	0	0	0.001855	0	14	52		
NAA25	80018	broad.mit.edu	37	12	112477111	112477111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:112477111G>T	ENST00000261745.4	-	22	2819	c.2571C>A	c.(2569-2571)taC>taA	p.Y857*	MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	857						cytoplasm (GO:0005737)		p.Y857*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CACTCTCACAGTAACTGGATA	0.328																																						uc001ttm.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(2569-2571)TAC>TAA		mitochondrial distribution and morphology 20							151.0	144.0	146.0					12																	112477111		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112477111G>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2571C>A	12.37:g.112477111G>T	ENSP00000261745:p.Tyr857*					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Y829*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Y835*	p.Y857*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			22	2591	-			857					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.2571C>A	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054321	0.75960	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	.	.	.	5.69	4.81	0.61882	.	0.123692	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2577	10.2731	0.43493	0.1512:0.0:0.8488:0.0	.	.	.	.	X	857;63	.	ENSP00000261745:Y857X	Y	-	3	2	NAA25	110961494	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.614000	0.54160	1.411000	0.46957	0.585000	0.79938	TAC		0.328	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1		NM_024953		40	101	1	0	1.52319e-26	0.00874	1.61096e-26	40	101		
HECTD4	283450	broad.mit.edu	37	12	112608964	112608964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:112608964G>A	ENST00000430131.2	-	67	11768	c.10623C>T	c.(10621-10623)ccC>ccT	p.P3541P	HECTD4_ENST00000550722.1_Silent_p.P3817P|HECTD4_ENST00000377560.5_Silent_p.P3791P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3541					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P3541P(1)|p.P3791P(1)									GGGTATACATGGGTGTCTGGC	0.632																																						uc009zwc.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.(10621-10623)CCC>CCT		chromosome 12 open reading frame 51							55.0	63.0	61.0					12																	112608964		2149	4241	6390	SO:0001819	synonymous_variant	283450							g.chr12:112608964G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10623C>T	12.37:g.112608964G>A							p.P3541P	NM_001109662	NP_001103132					61	10641	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.10623C>T																																																																																					0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		5	17	0	0	0	0.001168	0	5	17		
RITA1	84934	broad.mit.edu	37	12	113629482	113629482	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:113629482C>G	ENST00000548278.1	+	4	1362	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	C12orf52_ENST00000549621.1_Missense_Mutation_p.Q224E|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.Q248E	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		224	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)	p.Q224E(1)		large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AAATGGGCCTCAGGATCTCAG	0.617																																						uc001tur.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(670-672)CAG>GAG		hypothetical protein LOC84934							67.0	59.0	61.0					12																	113629482		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629482C>G																												ENST00000548278.1:c.670C>G	12.37:g.113629482C>G	ENSP00000449841:p.Gln224Glu					C12orf52_uc009zwg.1_Missense_Mutation_p.Q221E|C12orf52_uc001tus.1_Missense_Mutation_p.Q224E|C12orf52_uc001tut.1_Missense_Mutation_p.Q248E	p.Q224E	NM_032848	NP_116237	Q96K30	RITA_HUMAN			4	1138	+			224			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.670C>G	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	C	9.162	1.019075	0.19355	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.31247	1.51;1.51;1.5	4.79	1.9	0.25705	.	1.299420	0.05434	N	0.546526	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B	0.21606	0.058;0.034	B;B	0.22601	0.04;0.04	T	0.26258	-1.0108	10	0.40728	T	0.16	-0.0812	2.8979	0.05696	0.1869:0.5314:0.1808:0.1008	.	248;224	F8VRG5;Q96K30	.;RITA_HUMAN	E	224;224;248;224;221	ENSP00000448289:Q224E;ENSP00000449841:Q224E;ENSP00000448680:Q248E	ENSP00000266813:Q221E	Q	+	1	0	C12orf52	112113865	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.496000	0.06436	0.203000	0.20529	-0.152000	0.13540	CAG		0.617	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1				10	55	0	0	0	0.008291	0	10	55		
MED13L	23389	broad.mit.edu	37	12	116549237	116549237	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:116549237C>G	ENST00000281928.3	-	3	597	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	131						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E131Q(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTACCTTTCTAACAGATTG	0.388																																						uc001tvw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(391-393)GAA>CAA		mediator complex subunit 13-like							132.0	131.0	131.0					12																	116549237		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116549237C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.391G>C	12.37:g.116549237C>G	ENSP00000281928:p.Glu131Gln						p.E131Q	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	3	446	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		131					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.391G>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367273	0.82463	.	.	ENSG00000123066	ENST00000281928	D	0.81821	-1.54	5.74	5.74	0.90152	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.90208	0.6939	M	0.78223	2.4	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.89909	0.4050	10	0.54805	T	0.06	.	19.9113	0.97025	0.0:1.0:0.0:0.0	.	131	Q71F56	MD13L_HUMAN	Q	131	ENSP00000281928:E131Q	ENSP00000281928:E131Q	E	-	1	0	MED13L	115033620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.916000	0.75776	2.698000	0.92095	0.655000	0.94253	GAA		0.388	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3				13	114	0	0	0	0.001855	0	13	114		
CIT	11113	broad.mit.edu	37	12	120221778	120221778	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:120221778C>T	ENST00000261833.7	-	12	1531	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.L493L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	493					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L493L(2)|p.L494L(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGAGGCCTTCAGCTCCACCT	0.542																																						uc001txi.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(1477-1479)CTG>CTA		citron							235.0	208.0	217.0					12																	120221778		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120221778C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1479G>A	12.37:g.120221778C>T						CIT_uc001txh.1_Silent_p.L27L|CIT_uc001txj.1_Silent_p.L493L	p.L493L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	12	1532	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	493			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.1479G>A	CCDS9192.1																																																																																				0.542	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		62	273	0	0	0	0.01441	0	62	273		
HIP1R	9026	broad.mit.edu	37	12	123342655	123342655	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:123342655C>G	ENST00000253083.4	+	19	1947	c.1822C>G	c.(1822-1824)Cag>Gag	p.Q608E		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	608					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.Q608E(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCAGGAGTCTCAGGAGCAGGG	0.652																																						uc001udj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1822-1824)CAG>GAG		huntingtin interacting protein-1-related							44.0	48.0	46.0					12																	123342655		2189	4272	6461	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123342655C>G	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1822C>G	12.37:g.123342655C>G	ENSP00000253083:p.Gln608Glu					HIP1R_uc001udk.1_5'UTR	p.Q608E	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	19	1881	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		608					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.1822C>G	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	C	4.355	0.065451	0.08388	.	.	ENSG00000130787	ENST00000253083	T	0.13420	2.59	5.42	4.51	0.55191	.	0.707842	0.15095	N	0.280862	T	0.15219	0.0367	M	0.67953	2.075	0.29993	N	0.81669	B	0.02656	0.0	B	0.04013	0.001	T	0.40308	-0.9570	10	0.02654	T	1	-22.3812	14.4475	0.67361	0.0:0.7197:0.2803:0.0	.	608	O75146	HIP1R_HUMAN	E	608	ENSP00000253083:Q608E	ENSP00000253083:Q608E	Q	+	1	0	HIP1R	121908608	0.999000	0.42202	0.707000	0.30419	0.646000	0.38490	3.203000	0.51075	1.244000	0.43870	0.561000	0.74099	CAG		0.652	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959		11	91	0	0	0	0.00499	0	11	91		
CHFR	55743	broad.mit.edu	37	12	133428210	133428210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:133428210G>A	ENST00000432561.2	-	12	1595	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Nonsense_Mutation_p.Q496*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.Q416*|CHFR_ENST00000266880.7_Nonsense_Mutation_p.Q507*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.Q467*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.Q130*			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	508					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q467*(1)|p.Q508*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCACACTGCTGAGGGGCGACA	0.657																																						uc001ulf.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	skin(1)	1						c.(1522-1524)CAG>TAG		checkpoint with forkhead and ring finger domains							89.0	99.0	96.0					12																	133428210		2203	4298	6501	SO:0001587	stop_gained	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428210G>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1522C>T	12.37:g.133428210G>A	ENSP00000392395:p.Gln508*					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.Q496*|CHFR_uc010tbs.1_Nonsense_Mutation_p.Q507*|CHFR_uc001uld.2_Nonsense_Mutation_p.Q467*|CHFR_uc010tbt.1_Nonsense_Mutation_p.Q416*	p.Q508*	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	12	1606	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	508					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Nonsense_Mutation	SNP	ENST00000432561.2	37	c.1522C>T	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	41	8.709210	0.98922	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000537522;ENST00000541228;ENST00000432561	.	.	.	5.93	5.93	0.95920	.	0.054374	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.1153	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	467;416;496;507;130;308;508	.	ENSP00000266880:Q507X	Q	-	1	0	CHFR	131938283	1.000000	0.71417	0.984000	0.44739	0.831000	0.47069	8.783000	0.91813	2.814000	0.96858	0.655000	0.94253	CAG		0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2				54	163	0	0	0	0.01441	0	54	163		
PSPC1	55269	broad.mit.edu	37	13	20283725	20283725	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:20283725C>T	ENST00000338910.4	-	7	1332	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	391					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M391I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CACCCATTCTCATTTCCTGTT	0.373																																						uc001uml.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1171-1173)ATG>ATA		paraspeckle protein 1							159.0	140.0	146.0					13																	20283725		1813	4068	5881	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20283725C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1173G>A	13.37:g.20283725C>T	ENSP00000343966:p.Met391Ile					PSPC1_uc001umj.1_Intron|PSPC1_uc001umk.1_Intron	p.M391I	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	7	1359	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	391					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1173G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325741	0.24080	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.15256	2.44	5.09	5.09	0.68999	.	0.080972	0.85682	D	0.000000	T	0.13543	0.0328	N	0.25286	0.73	0.58432	D	0.999999	B	0.19817	0.039	B	0.17433	0.018	T	0.11108	-1.0601	10	0.16896	T	0.51	-12.8274	18.8473	0.92212	0.0:1.0:0.0:0.0	.	391	Q8WXF1	PSPC1_HUMAN	I	391;331	ENSP00000343966:M391I	ENSP00000343966:M391I	M	-	3	0	PSPC1	19181725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.842000	0.75379	2.521000	0.84997	0.591000	0.81541	ATG		0.373	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2				50	115	0	0	0	0.01441	0	50	115		
SACS	26278	broad.mit.edu	37	13	23904719	23904719	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23904719G>C	ENST00000382292.3	-	9	13569	c.13296C>G	c.(13294-13296)ttC>ttG	p.F4432L	SACS_ENST00000382298.3_Missense_Mutation_p.F4432L|SACS_ENST00000402364.1_Missense_Mutation_p.F3682L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4432					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.F4285L(2)|p.F4432L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAGGAACAAAGAACCTTTGAG	0.478																																						uc001uon.2		NaN																	3	Substitution - Missense(3)		urinary_tract(2)|large_intestine(1)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(13294-13296)TTC>TTG		sacsin							79.0	84.0	82.0					13																	23904719		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904719G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13296C>G	13.37:g.23904719G>C	ENSP00000371729:p.Phe4432Leu					SACS_uc001uoo.2_Missense_Mutation_p.F4285L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.F4432L	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13885	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4432					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13296C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102258	0.56183	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	5.85	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	L	0.44542	1.39	0.43003	D	0.994525	D	0.60575	0.988	P	0.54544	0.755	D	0.86906	0.2057	10	0.39692	T	0.17	.	9.7894	0.40697	0.2494:0.0:0.7506:0.0	.	4432	Q9NZJ4	SACS_HUMAN	L	4432;3682;4432	ENSP00000371729:F4432L;ENSP00000385844:F3682L;ENSP00000371735:F4432L	ENSP00000371729:F4432L	F	-	3	2	SACS	22802719	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	3.428000	0.52792	1.484000	0.48361	0.563000	0.77884	TTC		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		42	112	0	0	0	0.007835	0	42	112		
SACS	26278	broad.mit.edu	37	13	23904867	23904867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23904867G>C	ENST00000382292.3	-	9	13421	c.13148C>G	c.(13147-13149)tCa>tGa	p.S4383*	SACS_ENST00000382298.3_Nonsense_Mutation_p.S4383*|SACS_ENST00000402364.1_Nonsense_Mutation_p.S3633*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4383	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S4383*(1)|p.S4236*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCGGGATGCTGAGGTTGAAAA	0.378																																						uc001uon.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(13147-13149)TCA>TGA		sacsin							100.0	101.0	101.0					13																	23904867		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904867G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13148C>G	13.37:g.23904867G>C	ENSP00000371729:p.Ser4383*					SACS_uc001uoo.2_Nonsense_Mutation_p.S4236*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S4383*	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13737	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4383			J.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.13148C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	59	35.243444	0.99982	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.8	5.8	0.92144	.	0.062950	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	.	.	.	X	4383;3633;4383	.	ENSP00000371729:S4383X	S	-	2	0	SACS	22802867	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	9.869000	0.99810	2.730000	0.93505	0.563000	0.77884	TCA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		45	135	0	0	0	0.009718	0	45	135		
SACS	26278	broad.mit.edu	37	13	23905173	23905173	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:23905173G>C	ENST00000382292.3	-	9	13115	c.12842C>G	c.(12841-12843)tCt>tGt	p.S4281C	SACS_ENST00000382298.3_Missense_Mutation_p.S4281C|SACS_ENST00000402364.1_Missense_Mutation_p.S3531C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4281					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S4134C(1)|p.S4281C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTCTCTACCAGAGAAAAGAGG	0.478																																						uc001uon.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(12841-12843)TCT>TGT		sacsin							71.0	82.0	78.0					13																	23905173		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905173G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12842C>G	13.37:g.23905173G>C	ENSP00000371729:p.Ser4281Cys					SACS_uc001uoo.2_Missense_Mutation_p.S4134C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S4281C	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13431	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4281					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12842C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432715	0.25813	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89415	-2.36;-2.51;-2.36	5.65	4.81	0.61882	.	0.433555	0.27554	N	0.018849	T	0.77329	0.4114	N	0.08118	0	0.26375	N	0.976831	P	0.51791	0.948	B	0.39185	0.293	T	0.73020	-0.4114	10	0.72032	D	0.01	.	13.1736	0.59613	0.0742:0.0:0.9258:0.0	.	4281	Q9NZJ4	SACS_HUMAN	C	4281;3531;4281	ENSP00000371729:S4281C;ENSP00000385844:S3531C;ENSP00000371735:S4281C	ENSP00000371729:S4281C	S	-	2	0	SACS	22803173	1.000000	0.71417	0.016000	0.15963	0.236000	0.25371	5.763000	0.68818	1.376000	0.46267	0.563000	0.77884	TCT		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		29	84	0	0	0	0.007291	0	29	84		
USP12	219333	broad.mit.edu	37	13	27645266	27645266	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:27645266T>C	ENST00000282344.6	-	8	1209	c.953A>G	c.(952-954)tAt>tGt	p.Y318C		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	318	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y318C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TATTGCAATATAATGGCCTCG	0.274																																					Ovarian(37;808 911 7590 44442 44991)	uc001uqy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(952-954)TAT>TGT		ubiquitin thiolesterase 12							68.0	68.0	68.0					13																	27645266		2203	4297	6500	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27645266T>C	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.953A>G	13.37:g.27645266T>C	ENSP00000282344:p.Tyr318Cys						p.Y318C	NM_182488	NP_872294	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	8	1206	-		Lung SC(185;0.0161)	318					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.953A>G	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745355	0.69418	.	.	ENSG00000152484	ENST00000282344	T	0.34072	1.38	5.02	3.82	0.43975	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86103	0.1557	10	0.87932	D	0	-9.592	12.1805	0.54210	0.0:0.0:0.1432:0.8568	.	318	O75317	UBP12_HUMAN	C	318	ENSP00000282344:Y318C	ENSP00000282344:Y318C	Y	-	2	0	USP12	26543266	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	7.907000	0.87430	0.854000	0.35336	0.533000	0.62120	TAT		0.274	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1		NM_182488		12	68	0	0	0	0.001855	0	12	68		
CCNA1	8900	broad.mit.edu	37	13	37011849	37011849	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:37011849C>T	ENST00000255465.4	+	3	645	c.381C>T	c.(379-381)gtC>gtT	p.V127V	CCNA1_ENST00000440264.1_Silent_p.V83V|CCNA1_ENST00000449823.1_Silent_p.V83V|CCNA1_ENST00000418263.1_Silent_p.V126V			P78396	CCNA1_HUMAN	cyclin A1	127					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.V127V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACTGTGGGGTCCAAGAGCCCC	0.498																																						uc001uvr.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|skin(2)|ovary(1)	5						c.(379-381)GTC>GTT		cyclin A1 isoform a							83.0	89.0	87.0					13																	37011849		2203	4300	6503	SO:0001819	synonymous_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011849C>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.381C>T	13.37:g.37011849C>T						CCNA1_uc010teo.1_Silent_p.V83V|CCNA1_uc010abq.2_Silent_p.V83V|CCNA1_uc010abp.2_Silent_p.V83V|CCNA1_uc001uvs.3_Silent_p.V126V|CCNA1_uc010abr.2_RNA	p.V127V	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	731	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	127					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.381C>T	CCDS9357.1																																																																																				0.498	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2		NM_003914		32	74	0	0	0	0.009535	0	32	74		
CCDC70	83446	broad.mit.edu	37	13	52439716	52439716	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:52439716G>C	ENST00000242819.4	+	2	498	c.202G>C	c.(202-204)Gag>Cag	p.E68Q		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	68						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.E68Q(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTTCAGGGAAGAGATGTGGAC	0.468																																						uc001vfu.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(202-204)GAG>CAG		coiled-coil domain containing 70 precursor							63.0	68.0	66.0					13																	52439716		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439716G>C		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.202G>C	13.37:g.52439716G>C	ENSP00000242819:p.Glu68Gln					uc010tgr.1_RNA	p.E68Q	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	498	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	68					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.202G>C	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	1.984	-0.433490	0.04669	.	.	ENSG00000123171	ENST00000242819	T	0.20200	2.09	5.55	0.298	0.15766	.	0.427976	0.21991	N	0.066148	T	0.11452	0.0279	L	0.29908	0.895	0.09310	N	1	B	0.31318	0.319	B	0.29716	0.106	T	0.32955	-0.9887	10	0.13470	T	0.59	-14.5063	8.0349	0.30486	0.1542:0.3609:0.4849:0.0	.	68	Q6NSX1	CCD70_HUMAN	Q	68	ENSP00000242819:E68Q	ENSP00000242819:E68Q	E	+	1	0	CCDC70	51337717	0.129000	0.22400	0.001000	0.08648	0.000000	0.00434	0.057000	0.14279	0.296000	0.22592	-0.251000	0.11542	GAG		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2		NM_031290		12	89	0	0	0	0.013537	0	12	89		
TMTC4	84899	broad.mit.edu	37	13	101278119	101278119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:101278119C>G	ENST00000376234.3	-	13	1746	c.1557G>C	c.(1555-1557)atG>atC	p.M519I	TMTC4_ENST00000328767.5_Missense_Mutation_p.M408I|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.M538I	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	519						integral component of membrane (GO:0016021)		p.M538I(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAAGATTATTCATGGCATGAA	0.343																																						uc001vou.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1555-1557)ATG>ATC		transmembrane and tetratricopeptide repeat							57.0	61.0	59.0					13																	101278119		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101278119C>G		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1557G>C	13.37:g.101278119C>G	ENSP00000365408:p.Met519Ile					TMTC4_uc001vot.2_Missense_Mutation_p.M538I|TMTC4_uc010tja.1_Missense_Mutation_p.M408I|TMTC4_uc001vov.1_Missense_Mutation_p.M264I|TMTC4_uc001vow.1_Missense_Mutation_p.M302I	p.M519I	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			13	1717	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		519			TPR 3.		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.1557G>C	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401221	0.96030	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.59364	0.27;0.27;0.27	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	L	0.35414	1.06	0.80722	D	1	P;P;P;B	0.52692	0.647;0.937;0.955;0.452	P;P;P;B	0.60541	0.688;0.805;0.876;0.202	T	0.61138	-0.7123	10	0.36615	T	0.2	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	408;519;519;538	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	I	519;538;408	ENSP00000365408:M519I;ENSP00000343871:M538I;ENSP00000365409:M408I	ENSP00000365409:M408I	M	-	3	0	TMTC4	100076120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	ATG		0.343	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2		NM_032813		16	56	0	0	0	0.006122	0	16	56		
COL4A2	1284	broad.mit.edu	37	13	111077333	111077333	+	Missense_Mutation	SNP	G	G	A	rs374976511		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:111077333G>A	ENST00000360467.5	+	6	655	c.349G>A	c.(349-351)Gat>Aat	p.D117N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	117					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.D117N(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCTGGTGCCGATGGAATTCC	0.433																																						uc001vqx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(349-351)GAT>AAT		alpha 2 type IV collagen preproprotein		G	ASN/ASP	0,3796		0,0,1898	132.0	131.0	132.0		349	5.2	1.0	13		132	1,8241		0,1,4120	no	missense	COL4A2	NM_001846.2	23	0,1,6018	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	117/1713	111077333	1,12037	1898	4121	6019	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077333G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.349G>A	13.37:g.111077333G>A	ENSP00000353654:p.Asp117Asn						p.D117N	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		6	638	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	117					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.349G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431376	0.43122	0.0	1.21E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94232	-3.38	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000035	D	0.92971	0.7763	L	0.28054	0.825	0.54753	D	0.999988	D	0.63046	0.992	P	0.60068	0.868	D	0.90767	0.4669	10	0.17832	T	0.49	.	18.7701	0.91888	0.0:0.0:1.0:0.0	.	117	P08572	CO4A2_HUMAN	N	117	ENSP00000353654:D117N	ENSP00000257309:D117N	D	+	1	0	COL4A2	109875334	0.990000	0.36364	0.988000	0.46212	0.987000	0.75469	3.690000	0.54713	2.431000	0.82371	0.650000	0.86243	GAT		0.433	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846		7	72	0	0	0	0.00308	0	7	72		
TEX29	121793	broad.mit.edu	37	13	111973258	111973258	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr13:111973258G>A	ENST00000283547.1	+	2	150	c.21G>A	c.(19-21)gtG>gtA	p.V7V		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	7						integral component of membrane (GO:0016021)		p.V7V(1)									TGCTGGAAGTGAAGAACTCTC	0.652																																						uc001vsa.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(19-21)GTG>GTA		hypothetical protein LOC121793							78.0	82.0	80.0					13																	111973258		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111973258G>A	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.21G>A	13.37:g.111973258G>A							p.V7V	NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		2	150	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		7			Extracellular (Potential).			Silent	SNP	ENST00000283547.1	37	c.21G>A	CCDS9522.1																																																																																				0.652	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2		NM_152324		18	45	0	0	0	0.012319	0	18	45		
OR4K5	79317	broad.mit.edu	37	14	20389242	20389242	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:20389242G>T	ENST00000315915.4	+	1	502	c.477G>T	c.(475-477)caG>caT	p.Q159H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTAAGCCAGTTATCATTTA	0.448																																						uc010tkw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(475-477)CAG>CAT		olfactory receptor, family 4, subfamily K,							270.0	274.0	273.0					14																	20389242		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389242G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.477G>T	14.37:g.20389242G>T	ENSP00000319511:p.Gln159His						p.Q159H	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	477	+	all_cancers(95;0.00108)		159			Extracellular (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.477G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	13.17	2.155804	0.38021	.	.	ENSG00000176281	ENST00000315915	T	0.00019	9.06	4.41	0.148	0.14843	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000214	T	0.00109	0.0003	N	0.21545	0.675	0.09310	N	1	P	0.37038	0.579	P	0.44772	0.46	T	0.22521	-1.0214	10	0.56958	D	0.05	.	6.0834	0.19954	0.4979:0.0:0.5021:0.0	.	159	Q8NGD3	OR4K5_HUMAN	H	159	ENSP00000319511:Q159H	ENSP00000319511:Q159H	Q	+	3	2	OR4K5	19459082	0.001000	0.12720	0.104000	0.21259	0.990000	0.78478	-0.048000	0.11944	0.134000	0.18681	0.655000	0.94253	CAG		0.448	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1		NM_001005483		142	767	1	0	3.54119e-60	0.01441	3.77242e-60	142	767		
RPGRIP1	57096	broad.mit.edu	37	14	21780010	21780010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:21780010G>A	ENST00000400017.2	+	8	958	c.958G>A	c.(958-960)Gag>Aag	p.E320K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E293K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E293K|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E320K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	320					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E320K(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGCAGCCCATGAGGCCCTCCT	0.512																																						uc001wag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(2)|pancreas(1)	7						c.(958-960)GAG>AAG		retinitis pigmentosa GTPase regulator							46.0	45.0	45.0					14																	21780010		1940	4147	6087	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21780010G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.958G>A	14.37:g.21780010G>A	ENSP00000382895:p.Glu320Lys						p.E320K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	8	958	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	320			Potential.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.958G>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037127	0.54896	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.74842	-0.15;-0.88;-0.87;-0.86	5.64	2.62	0.31277	.	0.496290	0.23620	N	0.046259	T	0.56761	0.2007	N	0.24115	0.695	0.80722	D	1	B	0.29716	0.255	B	0.22386	0.039	T	0.57751	-0.7757	10	0.72032	D	0.01	-11.9536	9.131	0.36846	0.2594:0.0:0.7406:0.0	.	320	Q96KN7	RPGR1_HUMAN	K	293;293;320;320	ENSP00000450445:E293K;ENSP00000451219:E293K;ENSP00000382895:E320K;ENSP00000206660:E320K	ENSP00000206660:E320K	E	+	1	0	RPGRIP1	20849850	0.995000	0.38212	0.994000	0.49952	0.974000	0.67602	0.513000	0.22770	0.920000	0.36970	0.650000	0.86243	GAG		0.512	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1		NM_020366		5	11	0	0	0	0.000602	0	5	11		
RPGRIP1	57096	broad.mit.edu	37	14	21780081	21780081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:21780081G>C	ENST00000400017.2	+	8	1029	c.1029G>C	c.(1027-1029)ttG>ttC	p.L343F	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.L316F|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L316F|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.L343F	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	343					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.L343F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGTGAGCTTGAAGAGCCAAC	0.453																																						uc001wag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(2)|pancreas(1)	7						c.(1027-1029)TTG>TTC		retinitis pigmentosa GTPase regulator							52.0	51.0	52.0					14																	21780081		1913	4137	6050	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21780081G>C	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1029G>C	14.37:g.21780081G>C	ENSP00000382895:p.Leu343Phe						p.L343F	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	8	1029	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	343			Potential.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1029G>C	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006907	0.74932	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	D;D;D;D	0.89270	-1.9;-2.49;-2.31;-2.32	5.64	5.64	0.86602	.	0.152963	0.45126	D	0.000387	D	0.92014	0.7470	M	0.78801	2.425	0.80722	D	1	D	0.59767	0.986	P	0.56398	0.797	D	0.91686	0.5362	10	0.59425	D	0.04	-5.6862	10.438	0.44448	0.0854:0.0:0.9146:0.0	.	343	Q96KN7	RPGR1_HUMAN	F	316;316;343;343	ENSP00000450445:L316F;ENSP00000451219:L316F;ENSP00000382895:L343F;ENSP00000206660:L343F	ENSP00000206660:L343F	L	+	3	2	RPGRIP1	20849921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.924000	0.40065	2.937000	0.99478	0.650000	0.86243	TTG		0.453	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1		NM_020366		11	11	0	0	0	0.008291	0	11	11		
FBXO33	254170	broad.mit.edu	37	14	39868857	39868857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:39868857G>A	ENST00000298097.7	-	4	1868	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	511					protein ubiquitination (GO:0016567)			p.H511Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATAAGGTTATGCACTGGATCT	0.488																																						uc001wvk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1531-1533)CAT>TAT		F-box protein 33							134.0	101.0	112.0					14																	39868857		2203	4300	6503	SO:0001583	missense	254170							g.chr14:39868857G>A	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1531C>T	14.37:g.39868857G>A	ENSP00000298097:p.His511Tyr						p.H511Y	NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	4	1869	-	Hepatocellular(127;0.213)		511					Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	37	c.1531C>T	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062127	0.36373	.	.	ENSG00000165355	ENST00000298097	T	0.34072	1.38	5.97	5.97	0.96955	.	0.095524	0.64402	D	0.000001	T	0.37348	0.1000	L	0.44542	1.39	0.80722	D	1	B	0.24721	0.11	B	0.30251	0.113	T	0.07597	-1.0764	9	.	.	.	-6.4196	20.4387	0.99107	0.0:0.0:1.0:0.0	.	511	Q7Z6M2	FBX33_HUMAN	Y	511	ENSP00000298097:H511Y	.	H	-	1	0	FBXO33	38938608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.124000	0.94394	2.836000	0.97738	0.655000	0.94253	CAT		0.488	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2				9	26	0	0	0	0.008291	0	9	26		
FAM179B	23116	broad.mit.edu	37	14	45433564	45433564	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:45433564G>A	ENST00000361577.3	+	1	2154	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	FAM179B_ENST00000361462.2_Missense_Mutation_p.R647Q|FAM179B_ENST00000382233.2_Missense_Mutation_p.R647Q|KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	647								p.R647Q(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATCTGTACCCGAAGGGTATTA	0.443																																						uc001wvv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(1939-1941)CGA>CAA		hypothetical protein LOC23116							66.0	63.0	64.0					14																	45433564		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433564G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1940G>A	14.37:g.45433564G>A	ENSP00000355045:p.Arg647Gln					FAM179B_uc001wvw.2_Missense_Mutation_p.R647Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R647Q|FAM179B_uc001wvu.2_Missense_Mutation_p.R647Q	p.R647Q	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	2149	+			647					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1940G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466569	0.84425	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.11604	2.76;2.76;2.76	5.01	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.64402	D	0.000016	T	0.23133	0.0559	L	0.27053	0.805	0.52099	D	0.999946	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.989;0.996;0.987;0.989	T	0.02047	-1.1223	10	0.72032	D	0.01	-6.5166	18.1161	0.89555	0.0:0.0:1.0:0.0	.	647;647;647;647	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	Q	647	ENSP00000355045:R647Q;ENSP00000354917:R647Q;ENSP00000371668:R647Q	ENSP00000354917:R647Q	R	+	2	0	FAM179B	44503314	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.746000	0.74866	2.611000	0.88343	0.462000	0.41574	CGA		0.443	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		16	44	0	0	0	0.003163	0	16	44		
FAM179B	23116	broad.mit.edu	37	14	45542646	45542646	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:45542646C>G	ENST00000361577.3	+	19	5259	c.5045C>G	c.(5044-5046)tCa>tGa	p.S1682*	FAM179B_ENST00000361462.2_Nonsense_Mutation_p.S1735*|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1682								p.S1682*(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTAAATTATCAAAAGCACTC	0.403																																						uc001wvv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(5044-5046)TCA>TGA		hypothetical protein LOC23116							117.0	117.0	117.0					14																	45542646		2203	4300	6503	SO:0001587	stop_gained	23116						binding	g.chr14:45542646C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5045C>G	14.37:g.45542646C>G	ENSP00000355045:p.Ser1682*					FAM179B_uc001wvw.2_Nonsense_Mutation_p.S1735*|FAM179B_uc010anc.2_RNA	p.S1682*	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			19	5254	+			1682					Q68D66|Q6PG27	Nonsense_Mutation	SNP	ENST00000361577.3	37	c.5045C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088648	0.55968	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	.	.	.	5.78	5.78	0.91487	.	0.132092	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.3475	17.7752	0.88505	0.0:1.0:0.0:0.0	.	.	.	.	X	1682;1735;117	.	ENSP00000354917:S1735X	S	+	2	0	FAM179B	44612396	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.213000	0.58520	2.738000	0.93877	0.655000	0.94253	TCA		0.403	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		19	58	0	0	0	0.012319	0	19	58		
TMX1	81542	broad.mit.edu	37	14	51707163	51707163	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:51707163G>C	ENST00000457354.2	+	1	277		c.e1+1			NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1						cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)	p.?(1)		endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TGATAGAATTGTGAGTGCGGG	0.647																																						uc001wza.3		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e1+1		thioredoxin domain containing 1 precursor							51.0	57.0	55.0					14																	51707163		2052	4202	6254	SO:0001630	splice_region_variant	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51707163G>C	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.152+1G>C	14.37:g.51707163G>C						TMX1_uc010tqr.1_Splice_Site_p.F51_splice|TMX1_uc010aoa.2_Splice_Site	p.F51_splice	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN			1	277	+								B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Splice_Site	SNP	ENST00000457354.2	37	c.152_splice	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994087	0.93167	.	.	ENSG00000139921	ENST00000457354	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8326	0.88687	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMX1	50776913	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.585000	0.90802	2.885000	0.99019	0.655000	0.94253	.		0.647	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1		NM_030755	Intron	3	15	0	0	0	0.004672	0	3	15		
ZFP36L1	677	broad.mit.edu	37	14	69256711	69256711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:69256711C>T	ENST00000439696.2	-	2	857	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.A186T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	186					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A186T(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGCCCCGGCCAGGGCACGG	0.677											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(556-558)GCC>ACC		butyrate response factor 1							24.0	30.0	28.0					14																	69256711		2199	4291	6490	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256711C>T	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.556G>A	14.37:g.69256711C>T	ENSP00000388402:p.Ala186Thr		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.A186T	p.A186T	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	686	-			186					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.556G>A	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248974	0.39797	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	T;T	0.32023	1.47;1.47	4.5	3.56	0.40772	.	0.143079	0.47852	D	0.000218	T	0.20618	0.0496	N	0.22421	0.69	0.80722	D	1	B	0.21606	0.058	B	0.15052	0.012	T	0.05321	-1.0892	10	0.34782	T	0.22	-21.6956	13.5601	0.61784	0.156:0.844:0.0:0.0	.	186	Q07352	TISB_HUMAN	T	186;186;169;192;164	ENSP00000388402:A186T;ENSP00000337386:A186T	ENSP00000337386:A186T	A	-	1	0	ZFP36L1	68326464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.020000	0.41010	2.316000	0.78162	0.585000	0.79938	GCC		0.677	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				6	32	0	0	0	0.001984	0	6	32		
YLPM1	56252	broad.mit.edu	37	14	75231008	75231008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:75231008G>A	ENST00000552421.1	+	1	940	c.816G>A	c.(814-816)aaG>aaA	p.K272K	YLPM1_ENST00000325680.7_Silent_p.K272K|YLPM1_ENST00000238571.3_Silent_p.K272K			P49750	YLPM1_HUMAN	YLP motif containing 1	272					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.K272K(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAAAAACAAGAGTACTGAAC	0.532																																						uc001xqj.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(814-816)AAG>AAA		YLP motif containing 1							54.0	60.0	58.0					14																	75231008		1971	4175	6146	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75231008G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.816G>A	14.37:g.75231008G>A							p.K272K	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	940	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.816G>A																																																																																					0.532	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1		NM_019589		5	11	0	0	0	0.001168	0	5	11		
SAMD15	161394	broad.mit.edu	37	14	77846794	77846794	+	Missense_Mutation	SNP	G	G	T	rs529671912		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:77846794G>T	ENST00000216471.4	+	2	2044	c.1758G>T	c.(1756-1758)caG>caT	p.Q586H	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	586	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.Q586H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTCCCTCAGATGGGGATAA	0.423																																						uc001xtq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1756-1758)CAG>CAT		hypothetical protein LOC161394							134.0	104.0	114.0					14																	77846794		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77846794G>T	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1758G>T	14.37:g.77846794G>T	ENSP00000216471:p.Gln586His						p.Q586H	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	2	1758	+			586			SAM.		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1758G>T	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119681	0.37436	.	.	ENSG00000100583	ENST00000216471	D	0.85339	-1.97	5.07	3.24	0.37175	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.276491	0.19526	N	0.112141	T	0.72358	0.3450	N	0.12569	0.235	0.26539	N	0.974122	B	0.23937	0.094	B	0.25759	0.063	T	0.63404	-0.6645	10	0.51188	T	0.08	-4.5027	10.2811	0.43541	0.1654:0.0:0.8346:0.0	.	586	Q9P1V8	SAM15_HUMAN	H	586	ENSP00000216471:Q586H	ENSP00000216471:Q586H	Q	+	3	2	SAMD15	76916547	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.530000	0.45641	0.526000	0.28541	0.561000	0.74099	CAG		0.423	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2		NM_001010860		12	28	1	0	1.61879e-10	0.013537	1.67783e-10	12	28		
PTPN21	11099	broad.mit.edu	37	14	88946469	88946469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:88946469G>A	ENST00000556564.1	-	13	1590	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	PTPN21_ENST00000328736.3_Missense_Mutation_p.R436W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	436					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.R436W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCTGTGCCGATGGGACGGG	0.607																																						uc001xwv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1306-1308)CGG>TGG		protein tyrosine phosphatase, non-receptor type							98.0	61.0	73.0					14																	88946469		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946469G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1306C>T	14.37:g.88946469G>A	ENSP00000452414:p.Arg436Trp					PTPN21_uc010twc.1_Missense_Mutation_p.R232W	p.R436W	NM_007039	NP_008970	Q16825	PTN21_HUMAN			13	1637	-			436						Missense_Mutation	SNP	ENST00000556564.1	37	c.1306C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000584	0.54254	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.77489	-1.1;-1.1	5.49	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	M	0.78637	2.42	0.45295	D	0.998299	D	0.89917	1.0	D	0.85130	0.997	D	0.90051	0.4149	10	0.87932	D	0	.	16.4042	0.83652	0.0:0.0:0.7097:0.2903	.	436	Q16825	PTN21_HUMAN	W	436	ENSP00000330276:R436W;ENSP00000452414:R436W	ENSP00000330276:R436W	R	-	1	2	PTPN21	88016222	1.000000	0.71417	0.950000	0.38849	0.320000	0.28249	4.674000	0.61612	1.302000	0.44855	-0.324000	0.08512	CGG		0.607	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				9	30	0	0	0	0.006214	0	9	30		
TDP1	55775	broad.mit.edu	37	14	90429474	90429474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:90429474G>A	ENST00000335725.4	+	3	266	c.16G>A	c.(16-18)Gat>Aat	p.D6N	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Missense_Mutation_p.D6N|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Missense_Mutation_p.D6N|TDP1_ENST00000393454.2_Missense_Mutation_p.D6N	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	6					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.D6N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCAGGAAGGCGATTATGGGAG	0.433								Repair of DNA-protein crosslinks																														uc001xxy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(16-18)GAT>AAT	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							149.0	130.0	136.0					14																	90429474		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90429474G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.16G>A	14.37:g.90429474G>A	ENSP00000337353:p.Asp6Asn					TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.D6N|TDP1_uc010atn.2_Missense_Mutation_p.D6N|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.D6N|TDP1_uc001xyc.1_Missense_Mutation_p.D6N	p.D6N	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	315	+		all_cancers(154;0.185)	6					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.16G>A	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223143	0.09863	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000335725;ENST00000556867;ENST00000553527;ENST00000553989;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T;T;T	0.29655	1.56;2.32;1.8;1.8;1.98;1.98;1.98;1.99;1.57	5.47	-3.4	0.04853	.	1.006330	0.07971	N	0.984053	T	0.14399	0.0348	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.12630	0.001;0.002;0.006;0.001	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.37979	-0.9682	10	0.08381	T	0.77	-11.9159	14.6869	0.69055	0.3038:0.0:0.6962:0.0	.	6;6;6;6	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	N	6	ENSP00000377098:D6N;ENSP00000450872:D6N;ENSP00000377099:D6N;ENSP00000337353:D6N;ENSP00000452279:D6N;ENSP00000451358:D6N;ENSP00000452333:D6N;ENSP00000452183:D6N;ENSP00000450628:D6N	ENSP00000337353:D6N	D	+	1	0	TDP1	89499227	0.000000	0.05858	0.021000	0.16686	0.881000	0.50899	0.096000	0.15147	-0.571000	0.06014	0.561000	0.74099	GAT		0.433	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1		NM_018319		19	69	0	0	0	0.010504	0	19	69		
CATSPERB	79820	broad.mit.edu	37	14	92139220	92139220	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:92139220G>T	ENST00000256343.3	-	13	1275	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	373					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.F373L(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCTTGTTATAGAAGAGGTAAA	0.353																																						uc001xzs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|skin(2)|ovary(1)	5						c.(1117-1119)TTC>TTA		cation channel, sperm-associated, beta							118.0	127.0	124.0					14																	92139220		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92139220G>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1119C>A	14.37:g.92139220G>T	ENSP00000256343:p.Phe373Leu					CATSPERB_uc010aub.1_5'Flank	p.F373L	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			13	1259	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	373					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1119C>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	7.957	0.746053	0.15710	.	.	ENSG00000133962	ENST00000256343	T	0.38077	1.16	5.55	-10.4	0.00318	.	1.439300	0.04344	N	0.354568	T	0.23572	0.0570	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13602	-1.0503	10	0.11794	T	0.64	0.6284	6.0644	0.19856	0.0659:0.3353:0.1198:0.479	.	373	Q9H7T0	CTSRB_HUMAN	L	373	ENSP00000256343:F373L	ENSP00000256343:F373L	F	-	3	2	CATSPERB	91208973	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.689000	0.01923	-1.261000	0.02462	-1.252000	0.01501	TTC		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1		NM_024764		57	192	1	0	5.82218e-30	0.01441	6.17249e-30	57	192		
PAPOLA	10914	broad.mit.edu	37	14	97003330	97003330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:97003330G>A	ENST00000216277.8	+	12	1268	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E350K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	350					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E350K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TATCACAGATGAAATTTTGCT	0.318																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1048-1050)GAA>AAA		poly(A) polymerase alpha							84.0	82.0	83.0					14																	97003330		2203	4299	6502	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97003330G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1048G>A	14.37:g.97003330G>A	ENSP00000216277:p.Glu350Lys					PAPOLA_uc001yfr.2_Missense_Mutation_p.E350K|PAPOLA_uc010twv.1_Missense_Mutation_p.E350K|PAPOLA_uc010avp.2_Missense_Mutation_p.E100K	p.E350K	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	12	1258	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	350					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1048G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218562	0.79464	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.01	5.01	0.66863	Poly(A) polymerase, central domain (1);	0.052447	0.85682	D	0.000000	T	0.58337	0.2115	L	0.52206	1.635	0.80722	D	1	P;P;P	0.45715	0.69;0.865;0.736	B;P;P	0.44422	0.32;0.449;0.449	T	0.58702	-0.7590	9	0.36615	T	0.2	.	18.6891	0.91576	0.0:0.0:1.0:0.0	.	366;366;350	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	K	350;366;350;100	.	ENSP00000216277:E350K	E	+	1	0	PAPOLA	96073083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.748000	0.98867	2.473000	0.83533	0.650000	0.86243	GAA		0.318	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2				11	43	0	0	0	0.010729	0	11	43		
DYNC1H1	1778	broad.mit.edu	37	14	102514870	102514870	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:102514870C>T	ENST00000360184.4	+	74	13400	c.13236C>T	c.(13234-13236)ttC>ttT	p.F4412F	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4412					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.F4412F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTTCAGGTTCTTTGAGAGAG	0.483																																						uc001yks.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13234-13236)TTC>TTT		cytoplasmic dynein 1 heavy chain 1							84.0	73.0	77.0					14																	102514870		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102514870C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13236C>T	14.37:g.102514870C>T							p.F4412F	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			74	13400	+			4412					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13236C>T	CCDS9966.1																																																																																				0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		9	37	0	0	0	0.006214	0	9	37		
KLC1	3831	broad.mit.edu	37	14	104121150	104121150	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr14:104121150G>A	ENST00000348520.6	+	2	568	c.249G>A	c.(247-249)ctG>ctA	p.L83L	KLC1_ENST00000389744.4_Silent_p.L83L|KLC1_ENST00000554280.1_Silent_p.L83L|KLC1_ENST00000555836.1_Silent_p.L83L|KLC1_ENST00000557575.1_Silent_p.L83L|KLC1_ENST00000445352.4_Silent_p.L83L|KLC1_ENST00000557450.1_Silent_p.L83L|KLC1_ENST00000246489.7_Silent_p.L83L|KLC1_ENST00000334553.6_Silent_p.L83L|KLC1_ENST00000553286.1_Silent_p.L83L|KLC1_ENST00000380038.3_Silent_p.L83L|KLC1_ENST00000347839.6_Silent_p.L83L|RP11-73M18.2_ENST00000472726.2_Silent_p.L255L|KLC1_ENST00000452929.2_Silent_p.L83L	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	83					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L83L(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGCTCGGCCTGAGTGAGGCAC	0.418																																						uc001yno.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(247-249)CTG>CTA		kinesin light chain 1 isoform 2							79.0	76.0	77.0					14																	104121150		2203	4300	6503	SO:0001819	synonymous_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104121150G>A	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.249G>A	14.37:g.104121150G>A						KLC1_uc010tyd.1_Silent_p.L242L|KLC1_uc010tye.1_Silent_p.L79L|KLC1_uc001ynm.1_Silent_p.L83L|KLC1_uc001ynn.1_Silent_p.L79L|KLC1_uc010tyf.1_Silent_p.L83L	p.L83L	NM_182923	NP_891553	Q07866	KLC1_HUMAN			2	557	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	83					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	c.249G>A	CCDS41996.1																																																																																				0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2		NM_005552		9	53	0	0	0	0.004482	0	9	53		
BUB1B	701	broad.mit.edu	37	15	40501871	40501871	+	Missense_Mutation	SNP	C	C	T	rs577591919	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:40501871C>T	ENST00000287598.6	+	17	2374	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	BUB1B_ENST00000412359.3_Missense_Mutation_p.R741C	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	727					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R727C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCACAGTATCGCAGACAGCT	0.418			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				C|||	2	0.000399361	0.0	0.0	5008	,	,		18764	0.0		0.0	False		,,,				2504	0.002					uc001zkx.3		NaN	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(2179-2181)CGC>TGC		budding uninhibited by benzimidazoles 1 beta							127.0	125.0	126.0					15																	40501871		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40501871C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2179C>T	15.37:g.40501871C>T	ENSP00000287598:p.Arg727Cys						p.R727C	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	17	2391	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	727					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.2179C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547991	0.45383	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15952	2.38;2.38	4.91	3.99	0.46301	.	0.304696	0.29799	N	0.011180	T	0.33585	0.0868	M	0.64997	1.995	0.48135	D	0.999597	D	0.89917	1.0	P	0.62435	0.902	T	0.04360	-1.0957	10	0.49607	T	0.09	0.0724	11.7194	0.51672	0.0:0.9184:0.0:0.0816	.	727	O60566	BUB1B_HUMAN	C	727;741;610	ENSP00000287598:R727C;ENSP00000398470:R741C	ENSP00000287598:R727C	R	+	1	0	BUB1B	38289163	1.000000	0.71417	0.967000	0.41034	0.190000	0.23558	2.877000	0.48506	1.295000	0.44724	-0.151000	0.13558	CGC		0.418	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4				25	145	0	0	0	0.005443	0	25	145		
C15orf52	388115	broad.mit.edu	37	15	40633137	40633137	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:40633137C>T	ENST00000559313.1	-	1	31	c.16G>A	c.(16-18)Gag>Aag	p.E6K	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	6							poly(A) RNA binding (GO:0044822)	p.E6K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTTCGCTGCTCAGCACACGAG	0.647																																						uc001zlh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(16-18)GAG>AAG		hypothetical protein LOC388115							10.0	14.0	12.0					15																	40633137		1866	4091	5957	SO:0001583	missense	388115							g.chr15:40633137C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.16G>A	15.37:g.40633137C>T	ENSP00000453969:p.Glu6Lys					C15orf52_uc001zli.1_5'Flank	p.E6K	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	1	32	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	6					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.16G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917357	0.92249	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.84	3.84	0.44239	.	0.000000	0.38837	N	0.001556	T	0.32041	0.0816	L	0.34521	1.04	0.33085	D	0.537185	B	0.30937	0.301	B	0.24848	0.056	T	0.48875	-0.8996	9	0.87932	D	0	-15.1043	7.2142	0.25951	0.0:0.8773:0.0:0.1227	.	6	Q6ZUT6	CO052_HUMAN	K	6	.	ENSP00000372135:E6K	E	-	1	0	C15orf52	38420429	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.538000	0.36094	2.525000	0.85131	0.557000	0.71058	GAG		0.647	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380		3	14	0	0	0	0.009096	0	3	14		
MAPKBP1	23005	broad.mit.edu	37	15	42107900	42107900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:42107900G>A	ENST00000456763.2	+	13	1610	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.D466N|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D466N|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D349N|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D305N	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	472								p.D466N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGACAAAGCTGATGCATCCCT	0.547																																						uc001zok.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1414-1416)GAT>AAT		mitogen-activated protein kinase binding protein							75.0	62.0	66.0					15																	42107900		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107900G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1414G>A	15.37:g.42107900G>A	ENSP00000393099:p.Asp472Asn					MAPKBP1_uc001zoj.3_Missense_Mutation_p.D466N|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.D466N|MAPKBP1_uc010udb.1_Missense_Mutation_p.D305N|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	p.D472N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	13	1700	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	472					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1414G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.501271	0.64298	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.65549	1.08;1.19;1.08;-0.16;1.22	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.043268	0.85682	D	0.000000	T	0.63438	0.2511	N	0.16368	0.405	0.58432	D	0.999997	D;D;B;B	0.76494	0.999;0.991;0.04;0.004	D;P;B;B	0.69479	0.964;0.857;0.101;0.016	T	0.55147	-0.8186	10	0.06494	T	0.89	-14.9658	19.8235	0.96607	0.0:0.0:1.0:0.0	.	305;466;472;466	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	N	466;349;305;472;466	ENSP00000397570:D466N;ENSP00000221214:D349N;ENSP00000260357:D305N;ENSP00000393099:D472N;ENSP00000426154:D466N	ENSP00000221214:D349N	D	+	1	0	MAPKBP1	39895192	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	8.564000	0.90726	2.696000	0.92011	0.456000	0.33151	GAT		0.547	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		NM_014994		7	26	0	0	0	0.001984	0	7	26		
EHD4	30844	broad.mit.edu	37	15	42193072	42193072	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:42193072G>C	ENST00000220325.4	-	6	1480	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	466	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.S466*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GTTGACACCTGATATCTTGCC	0.597																																						uc001zot.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)	2						c.(1396-1398)TCA>TGA		EH-domain containing 4							91.0	74.0	80.0					15																	42193072		2203	4299	6502	SO:0001587	stop_gained	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193072G>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1397C>G	15.37:g.42193072G>C	ENSP00000220325:p.Ser466*						p.S466*	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1460	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	466			EH.		Q9HAR1|Q9NZN2	Nonsense_Mutation	SNP	ENST00000220325.4	37	c.1397C>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483807	0.96307	.	.	ENSG00000103966	ENST00000220325	.	.	.	4.63	4.63	0.57726	.	0.060139	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.7394	17.8455	0.88729	0.0:0.0:1.0:0.0	.	.	.	.	X	466	.	ENSP00000220325:S466X	S	-	2	0	EHD4	39980364	1.000000	0.71417	0.620000	0.29132	0.971000	0.66376	7.802000	0.85969	2.287000	0.76781	0.543000	0.68304	TCA		0.597	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2		NM_139265		10	51	0	0	0	0.010729	0	10	51		
CDAN1	146059	broad.mit.edu	37	15	43022925	43022925	+	Missense_Mutation	SNP	C	C	T	rs201057681	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:43022925C>T	ENST00000356231.3	-	14	2068	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	682					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCAGCCCTCGCTGCAGCAG	0.637													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17535	0.001		0.0	False		,,,				2504	0.0					uc001zql.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2044-2046)CGA>CAA		codanin 1		C	GLN/ARG	0,4396		0,0,2198	19.0	22.0	21.0		2045	4.7	1.0	15		21	1,8571		0,1,4285	no	missense	CDAN1	NM_138477.2	43	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	benign	682/1228	43022925	1,12967	2198	4286	6484	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43022925C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2045G>A	15.37:g.43022925C>T	ENSP00000348564:p.Arg682Gln					CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.E8K	p.R682Q	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	14	2162	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	682					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2045G>A	CCDS32209.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.674	0.687680	0.14973	0.0	1.17E-4	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89343	-2.5	5.77	4.66	0.58398	.	0.414368	0.29053	N	0.013297	T	0.73087	0.3542	N	0.11651	0.15	0.27851	N	0.940738	B	0.06786	0.001	B	0.06405	0.002	T	0.57751	-0.7757	10	0.02654	T	1	-7.5903	8.3942	0.32546	0.0:0.2218:0.0:0.7782	.	682	Q8IWY9	CDAN1_HUMAN	Q	682;680	ENSP00000348564:R682Q	ENSP00000267892:R680Q	R	-	2	0	CDAN1	40810217	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.741000	0.26202	1.022000	0.39626	-0.302000	0.09304	CGA		0.637	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300		7	15	0	0	0	0.00308	0	7	15		
GATM	2628	broad.mit.edu	37	15	45654374	45654374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:45654374C>T	ENST00000396659.3	-	9	1544	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	402					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)	p.G402E(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GAAGCCTCCTCCCAGGGAATT	0.498																																						uc001zvc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1204-1206)GGA>GAA		L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						95.0	80.0	85.0					15																	45654374		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45654374C>T	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1205G>A	15.37:g.45654374C>T	ENSP00000379895:p.Gly402Glu					GATM_uc001zvb.2_Missense_Mutation_p.G273E	p.G402E	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	9	1534	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	402					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.1205G>A	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731883	0.89390	.	.	ENSG00000171766	ENST00000396659	T	0.57273	0.41	5.23	5.23	0.72850	.	0.045820	0.85682	D	0.000000	T	0.78997	0.4372	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83023	-0.0166	10	0.52906	T	0.07	-13.5642	16.6372	0.85062	0.0:1.0:0.0:0.0	.	402	P50440	GATM_HUMAN	E	402	ENSP00000379895:G402E	ENSP00000379895:G402E	G	-	2	0	GATM	43441666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.607000	0.88179	0.655000	0.94253	GGA		0.498	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2		NM_001482		7	53	0	0	0	0.00308	0	7	53		
SLC27A2	11001	broad.mit.edu	37	15	50518226	50518226	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:50518226A>T	ENST00000267842.5	+	6	1441	c.1209A>T	c.(1207-1209)aaA>aaT	p.K403N	SLC27A2_ENST00000380902.4_Missense_Mutation_p.K350N|SLC27A2_ENST00000544960.1_Missense_Mutation_p.K168N	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	403					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.K403N(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATGTGGAGAAAGATGAACCTG	0.323																																						uc001zxw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1207-1209)AAA>AAT		solute carrier family 27 (fatty acid							93.0	89.0	91.0					15																	50518226		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50518226A>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1209A>T	15.37:g.50518226A>T	ENSP00000267842:p.Lys403Asn					SLC27A2_uc010bes.2_Missense_Mutation_p.K350N|SLC27A2_uc001zxx.2_Missense_Mutation_p.K168N	p.K403N	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	6	1441	+		all_lung(180;0.00177)	403			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1209A>T	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966585	0.74131	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.47528	0.84;0.84;0.84	5.39	3.11	0.35812	AMP-dependent synthetase/ligase (1);	0.190133	0.44688	D	0.000424	T	0.56337	0.1978	L	0.56199	1.76	0.52501	D	0.999954	D;D	0.67145	0.984;0.996	P;D	0.68483	0.889;0.958	T	0.55579	-0.8119	10	0.59425	D	0.04	.	5.7877	0.18343	0.7021:0.0:0.2979:0.0	.	350;403	Q6PF09;O14975	.;S27A2_HUMAN	N	350;403;168	ENSP00000370289:K350N;ENSP00000267842:K403N;ENSP00000444549:K168N	ENSP00000267842:K403N	K	+	3	2	SLC27A2	48305518	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.492000	0.45311	0.886000	0.36113	0.533000	0.62120	AAA		0.323	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2		NM_003645		41	104	0	0	0	0.007835	0	41	104		
MYO5C	55930	broad.mit.edu	37	15	52553307	52553307	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:52553307C>T	ENST00000261839.7	-	10	1226	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.L298L	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	355	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L355L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGAACACCTTCAGGTGACTGT	0.572																																						uc010bff.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(1063-1065)CTG>CTA		myosin VC							52.0	54.0	54.0					15																	52553307		2040	4199	6239	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52553307C>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1065G>A	15.37:g.52553307C>T						MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.*255*	p.L355L	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	10	1202	-			355			Myosin head-like.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.1065G>A	CCDS42036.1																																																																																				0.572	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728		22	54	0	0	0	0.00333	0	22	54		
RNF111	54778	broad.mit.edu	37	15	59344515	59344515	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:59344515G>A	ENST00000557998.1	+	3	1179	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	RNF111_ENST00000434298.1_Missense_Mutation_p.E298K|RNF111_ENST00000561186.1_Missense_Mutation_p.E298K|RNF111_ENST00000559209.1_Missense_Mutation_p.E298K|RNF111_ENST00000348370.4_Missense_Mutation_p.E298K	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	298	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E298K(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGTATTGATGAAGATGTTGT	0.373																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(892-894)GAA>AAA		ring finger protein 111							144.0	139.0	141.0					15																	59344515		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59344515G>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.892G>A	15.37:g.59344515G>A	ENSP00000452732:p.Glu298Lys					RNF111_uc002afs.2_Missense_Mutation_p.E298K|RNF111_uc002aft.2_Missense_Mutation_p.E298K|RNF111_uc002afu.2_Missense_Mutation_p.E298K|RNF111_uc002afw.2_Missense_Mutation_p.E298K	p.E298K	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	3	1171	+			298			Ser-rich.|Interaction with AXIN1.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.892G>A	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335514	0.81801	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.16073	2.37;2.37	5.66	5.66	0.87406	.	0.055152	0.64402	D	0.000001	T	0.21590	0.0520	L	0.44542	1.39	0.80722	D	1	B;B;B	0.27656	0.184;0.115;0.184	B;B;B	0.30716	0.119;0.056;0.119	T	0.02417	-1.1162	10	0.72032	D	0.01	-1.4719	19.7578	0.96301	0.0:0.0:1.0:0.0	.	298;298;298	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	K	298	ENSP00000288199:E298K;ENSP00000393641:E298K	ENSP00000288199:E298K	E	+	1	0	RNF111	57131807	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.829000	0.92055	2.657000	0.90304	0.655000	0.94253	GAA		0.373	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1		NM_017610		28	149	0	0	0	0.004656	0	28	149		
HERC1	8925	broad.mit.edu	37	15	63984612	63984612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:63984612G>A	ENST00000443617.2	-	31	5915	c.5828C>T	c.(5827-5829)tCa>tTa	p.S1943L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1943					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S1943L(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATGTACCTGAAGAACATTT	0.358																																						uc002amp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(5827-5829)TCA>TTA		hect domain and RCC1-like domain 1							94.0	88.0	90.0					15																	63984612		1830	4095	5925	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63984612G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5828C>T	15.37:g.63984612G>A	ENSP00000390158:p.Ser1943Leu						p.S1943L	NM_003922	NP_003913	Q15751	HERC1_HUMAN			31	5976	-			1943					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.5828C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117917	0.94385	.	.	ENSG00000103657	ENST00000443617	T	0.66995	-0.24	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000010	T	0.53190	0.1781	N	0.19112	0.55	0.80722	D	1	P	0.37781	0.608	B	0.32090	0.14	T	0.56583	-0.7955	10	0.45353	T	0.12	.	19.6995	0.96047	0.0:0.0:1.0:0.0	.	1943	Q15751	HERC1_HUMAN	L	1943	ENSP00000390158:S1943L	ENSP00000390158:S1943L	S	-	2	0	HERC1	61771665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.305000	0.96197	2.652000	0.90054	0.650000	0.86243	TCA		0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		18	88	0	0	0	0.007413	0	18	88		
RASL12	51285	broad.mit.edu	37	15	65347506	65347506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:65347506C>T	ENST00000220062.4	-	5	808	c.532G>A	c.(532-534)Gag>Aag	p.E178K	RASL12_ENST00000434605.2_Missense_Mutation_p.E167K|RASL12_ENST00000421977.3_Missense_Mutation_p.E159K	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	178					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.E167K(1)|p.E178K(1)		lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CGCACTGCCTCGTGGAAGACA	0.647																																						uc002aoi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(532-534)GAG>AAG		RAS-like, family 12 protein							30.0	24.0	26.0					15																	65347506		2201	4299	6500	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347506C>T	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.532G>A	15.37:g.65347506C>T	ENSP00000220062:p.Glu178Lys					RASL12_uc002aoj.1_Missense_Mutation_p.E159K|RASL12_uc010uir.1_Missense_Mutation_p.E167K	p.E178K	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN			5	747	-			178					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.532G>A	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244042	0.79912	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.79749	-1.3;-1.3;-1.3	4.86	3.94	0.45596	.	0.171581	0.48767	D	0.000175	T	0.77157	0.4089	L	0.59967	1.855	0.44523	D	0.997471	P;D;D	0.59357	0.898;0.968;0.985	B;B;P	0.45119	0.293;0.338;0.47	T	0.77744	-0.2473	10	0.59425	D	0.04	.	8.8284	0.35069	0.0:0.7686:0.1496:0.0818	.	167;159;178	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	K	178;159;167	ENSP00000220062:E178K;ENSP00000390028:E159K;ENSP00000412787:E167K	ENSP00000220062:E178K	E	-	1	0	RASL12	63134559	0.995000	0.38212	0.966000	0.40874	0.943000	0.58893	3.283000	0.51701	1.262000	0.44165	0.505000	0.49811	GAG		0.647	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2		NM_016563		7	29	0	0	0	0.004482	0	7	29		
FEM1B	10116	broad.mit.edu	37	15	68582398	68582398	+	Silent	SNP	C	C	T	rs142803256		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:68582398C>T	ENST00000306917.4	+	2	1317	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	234					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)	p.V234V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AAGCTGATGTCGTAGAACTGT	0.458																																						uc002arg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(700-702)GTC>GTT		fem-1 homolog b		C		0,4400		0,0,2200	130.0	123.0	126.0		702	-11.5	0.1	15	dbSNP_134	126	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FEM1B	NM_015322.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		234/628	68582398	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582398C>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.702C>T	15.37:g.68582398C>T						FEM1B_uc002arh.2_Silent_p.V154V	p.V234V	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN			2	1317	+			234			ANK 6.		O43146	Silent	SNP	ENST00000306917.4	37	c.702C>T	CCDS10228.1																																																																																				0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1				36	466	0	0	0	0.003755	0	36	466		
ITGA11	22801	broad.mit.edu	37	15	68600001	68600001	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:68600001A>G	ENST00000315757.7	-	27	3294	c.3208T>C	c.(3208-3210)Tgc>Cgc	p.C1070R	ITGA11_ENST00000423218.2_Missense_Mutation_p.C1071R	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1070					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.C1070R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CGTATATTGCAGTTGATGGAG	0.542																																						uc002ari.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|pancreas(1)	3						c.(3208-3210)TGC>CGC		integrin, alpha 11 precursor	Tirofiban(DB00775)						48.0	47.0	47.0					15																	68600001		1928	4131	6059	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68600001A>G	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3208T>C	15.37:g.68600001A>G	ENSP00000327290:p.Cys1070Arg					ITGA11_uc010bib.2_Missense_Mutation_p.C1071R	p.C1070R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			27	3295	-			1070			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.3208T>C	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546567	0.45383	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	D;D	0.93019	-3.15;-3.15	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	M	0.75264	2.295	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.75484	0.986;0.945	D	0.96569	0.9421	10	0.87932	D	0	.	13.599	0.62007	1.0:0.0:0.0:0.0	.	1070;1070	A8K8T0;Q9UKX5	.;ITA11_HUMAN	R	1070;1071;705	ENSP00000327290:C1070R;ENSP00000403392:C1071R	ENSP00000327290:C1070R	C	-	1	0	ITGA11	66387055	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	5.764000	0.68826	1.896000	0.54893	0.397000	0.26171	TGC		0.542	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211		62	22	0	0	0	0.01441	0	62	22		
THAP10	56906	broad.mit.edu	37	15	71174897	71174897	+	Missense_Mutation	SNP	C	C	T	rs200034991		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:71174897C>T	ENST00000249861.4	-	3	1182	c.670G>A	c.(670-672)Gac>Aac	p.D224N	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	224							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D224N(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGTAAATGTCAAAGAGAGAG	0.393																																						uc002asv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(670-672)GAC>AAC		THAP domain containing 10							162.0	157.0	159.0					15																	71174897		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71174897C>T	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.670G>A	15.37:g.71174897C>T	ENSP00000249861:p.Asp224Asn					LRRC49_uc002asu.2_Intron	p.D224N	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			3	812	-			224					B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.670G>A	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348227	0.24426	.	.	ENSG00000129028	ENST00000249861	.	.	.	3.36	2.39	0.29439	.	.	.	.	.	T	0.23210	0.0561	N	0.14661	0.345	0.09310	N	1	B	0.31893	0.345	B	0.34824	0.19	T	0.21552	-1.0242	8	0.62326	D	0.03	.	8.3188	0.32117	0.0:0.755:0.245:0.0	.	224	Q9P2Z0	THA10_HUMAN	N	224	.	ENSP00000249861:D224N	D	-	1	0	THAP10	68961951	0.000000	0.05858	0.003000	0.11579	0.623000	0.37688	0.156000	0.16382	0.707000	0.31934	0.460000	0.39030	GAC		0.393	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2		NM_020147		34	187	0	0	0	0.013726	0	34	187		
PML	5371	broad.mit.edu	37	15	74336969	74336969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:74336969C>T	ENST00000268058.3	+	9	2365	c.2269C>T	c.(2269-2271)Ctc>Ttc	p.L757F	PML_ENST00000565898.1_Missense_Mutation_p.L709F	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	757					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L757F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GTGCCGCCTCCTCGAGGTCTC	0.652			T	"""RARA, PAX5"""	"""APL, ALL"""																																	uc002awv.2		NaN		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	RARA|PAX5		APL|ALL		1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|kidney(2)|breast(1)	5						c.(2269-2271)CTC>TTC		promyelocytic leukemia protein isoform 1							20.0	24.0	23.0					15																	74336969		2191	4285	6476	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding	g.chr15:74336969C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2269C>T	15.37:g.74336969C>T	ENSP00000268058:p.Leu757Phe					PML_uc002awu.2_Missense_Mutation_p.L709F|PML_uc010ule.1_Missense_Mutation_p.L318F	p.L757F	NM_033238	NP_150241	P29590	PML_HUMAN			9	2409	+			757					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.2269C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414571	0.25465	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.54279	0.58	5.18	2.3	0.28687	.	0.795116	0.10974	N	0.613492	T	0.46560	0.1399	L	0.34521	1.04	0.28870	N	0.894998	P;B	0.48998	0.918;0.03	P;B	0.47102	0.537;0.06	T	0.39761	-0.9598	10	0.87932	D	0	-11.2058	7.797	0.29154	0.1351:0.7115:0.0:0.1534	.	757;709	P29590;P29590-11	PML_HUMAN;.	F	757;318;740	ENSP00000268058:L757F	ENSP00000268058:L757F	L	+	1	0	PML	72124022	0.551000	0.26497	0.058000	0.19502	0.107000	0.19398	1.441000	0.35035	0.079000	0.16929	-1.357000	0.01221	CTC		0.652	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3		NM_002675		4	23	0	0	0	0.000602	0	4	23		
FANCI	55215	broad.mit.edu	37	15	89834895	89834895	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:89834895G>C	ENST00000310775.7	+	20	2028	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q	FANCI_ENST00000300027.8_Missense_Mutation_p.E648Q	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	648					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.E648Q(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTGAAATTAGAAGCTTGTAT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1942-1944)GAA>CAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							125.0	133.0	130.0					15																	89834895		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89834895G>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1942G>C	15.37:g.89834895G>C	ENSP00000310842:p.Glu648Gln					FANCI_uc002bnm.1_Missense_Mutation_p.E648Q|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.E469Q|FANCI_uc002bnq.1_Missense_Mutation_p.E61Q	p.E648Q	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			20	2032	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		648					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.1942G>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841265	0.71488	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.32988	1.43;1.43;1.43	5.42	5.42	0.78866	.	0.045450	0.85682	D	0.000000	T	0.37517	0.1006	M	0.67953	2.075	0.80722	D	1	B;P;P	0.34724	0.343;0.465;0.465	B;B;B	0.37267	0.245;0.076;0.158	T	0.12528	-1.0544	10	0.22109	T	0.4	-10.0989	19.2424	0.93889	0.0:0.0:1.0:0.0	.	648;648;648	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	Q	648	ENSP00000300027:E648Q;ENSP00000310842:E648Q;ENSP00000413249:E648Q	ENSP00000300027:E648Q	E	+	1	0	FANCI	87635899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.483000	0.90442	2.534000	0.85438	0.655000	0.94253	GAA		0.353	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		38	161	0	0	0	0.00874	0	38	161		
TICRR	90381	broad.mit.edu	37	15	90161397	90161397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:90161397G>C	ENST00000268138.7	+	17	3080	c.2975G>C	c.(2974-2976)gGt>gCt	p.G992A	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.G991A			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	992					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G992A(1)									TCTGATCCTGGTCCTGATATT	0.413																																						uc002boe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(2974-2976)GGT>GCT		leucine-rich repeat kinase 1							394.0	378.0	383.0					15																	90161397		1940	4140	6080	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90161397G>C	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2975G>C	15.37:g.90161397G>C	ENSP00000268138:p.Gly992Ala						p.G992A	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		17	2975	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		992					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.2975G>C	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460468	0.63401	.	.	ENSG00000140534	ENST00000268138	T	0.15487	2.42	4.45	4.45	0.53987	.	0.240811	0.36444	N	0.002592	T	0.30696	0.0773	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01121	-1.1445	10	0.38643	T	0.18	-14.8383	11.0614	0.47950	0.0869:0.0:0.9131:0.0	.	992	Q7Z2Z1	TICRR_HUMAN	A	992	ENSP00000268138:G992A	ENSP00000268138:G992A	G	+	2	0	C15orf42	87962401	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.656000	0.61483	2.174000	0.68829	0.313000	0.20887	GGT		0.413	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		157	269	0	0	0	0.01441	0	157	269		
AP3S2	10239	broad.mit.edu	37	15	90431850	90431850	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:90431850G>A	ENST00000336418.4	-	3	568	c.176C>T	c.(175-177)tCt>tTt	p.S59F	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.S260F|AP3S2_ENST00000560940.1_Missense_Mutation_p.S59F|AP3S2_ENST00000558011.1_Missense_Mutation_p.S59F|RNU6-1111P_ENST00000391118.1_RNA|C15orf38-AP3S2_ENST00000560224.1_5'UTR	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	59					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)	p.S59F(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTTGTAGTCAGAGCCACCAAT	0.418																																						uc002boq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)TCT>TTT		adaptor-related protein complex 3, sigma 2							74.0	69.0	70.0					15																	90431850		2200	4299	6499	SO:0001583	missense	10239				intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity	g.chr15:90431850G>A	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.176C>T	15.37:g.90431850G>A	ENSP00000338777:p.Ser59Phe					AP3S2_uc002bos.3_Missense_Mutation_p.S260F|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_Intron	p.S59F	NM_005829	NP_005820	P59780	AP3S2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		3	612	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)		59					B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	c.176C>T	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855071	0.91355	.	.	ENSG00000157823;ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000423566;ENST00000398333	T;T	0.49432	0.83;0.78	5.56	5.56	0.83823	Longin-like (1);AP complex, mu/sigma subunit (1);	0.275476	0.35739	N	0.003003	T	0.66336	0.2779	M	0.90019	3.08	0.41044	D	0.985251	B;P	0.44380	0.286;0.834	P;P	0.48571	0.451;0.582	T	0.72940	-0.4139	10	0.59425	D	0.04	-27.5149	17.0479	0.86509	0.0:0.0:1.0:0.0	.	260;59	E2QRD5;P59780	.;AP3S2_HUMAN	F	59;59;260	ENSP00000338777:S59F;ENSP00000381377:S260F	ENSP00000338777:S59F	S	-	2	0	C15orf38-AP3S2;AP3S2	88232854	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.100000	0.94213	2.890000	0.99128	0.655000	0.94253	TCT		0.418	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1				3	35	0	0	0	0.009096	0	3	35		
CHD2	1106	broad.mit.edu	37	15	93558043	93558043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:93558043C>T	ENST00000394196.4	+	37	5878	c.4810C>T	c.(4810-4812)Cag>Tag	p.Q1604*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q1604*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1604					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.Q1604*(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTTCACCCTCAGAAGCCTCA	0.532																																						uc002bsp.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(4810-4812)CAG>TAG		chromodomain helicase DNA binding protein 2							179.0	173.0	175.0					15																	93558043		2197	4298	6495	SO:0001587	stop_gained	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93558043C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4810C>T	15.37:g.93558043C>T	ENSP00000377747:p.Gln1604*					CHD2_uc002bso.1_Nonsense_Mutation_p.Q1604*	p.Q1604*	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		37	5385	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1604					C6G482|Q96IP5	Nonsense_Mutation	SNP	ENST00000394196.4	37	c.4810C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	50	16.308274	0.99860	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	.	.	.	5.8	5.8	0.92144	.	0.000000	0.32357	U	0.006214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-18.8368	20.0544	0.97645	0.0:1.0:0.0:0.0	.	.	.	.	X	1604;1604;129	.	ENSP00000377747:Q1604X	Q	+	1	0	CHD2	91359047	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.029000	0.76477	2.746000	0.94184	0.591000	0.81541	CAG		0.532	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		22	170	0	0	0	0.00333	0	22	170		
CHD2	1106	broad.mit.edu	37	15	93558052	93558052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr15:93558052C>T	ENST00000394196.4	+	37	5887	c.4819C>T	c.(4819-4821)Cat>Tat	p.H1607Y	CHD2_ENST00000557381.1_Missense_Mutation_p.H1607Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1607					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.H1607Y(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCAGAAGCCTCATTTGCCTGC	0.517																																						uc002bsp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(4819-4821)CAT>TAT		chromodomain helicase DNA binding protein 2							179.0	173.0	175.0					15																	93558052		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93558052C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4819C>T	15.37:g.93558052C>T	ENSP00000377747:p.His1607Tyr					CHD2_uc002bso.1_Missense_Mutation_p.H1607Y	p.H1607Y	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		37	5394	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1607					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.4819C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135028	0.37728	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000557759	D;D;T	0.90004	-2.53;-2.6;0.84	5.8	5.8	0.92144	.	0.000000	0.34580	U	0.003860	T	0.79003	0.4373	N	0.24115	0.695	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.70978	-0.4725	10	0.02654	T	1	-23.7738	13.2792	0.60205	0.0:0.9278:0.0:0.0722	.	1607;1607	O14647;O14647-2	CHD2_HUMAN;.	Y	1607;1607;132	ENSP00000377747:H1607Y;ENSP00000451366:H1607Y;ENSP00000451539:H132Y	ENSP00000377747:H1607Y	H	+	1	0	CHD2	91359056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.937000	0.63513	2.746000	0.94184	0.591000	0.81541	CAT		0.517	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		25	174	0	0	0	0.005443	0	25	174		
AXIN1	8312	broad.mit.edu	37	16	339566	339566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:339566G>A	ENST00000262320.3	-	10	2707	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	AXIN1_ENST00000354866.3_Missense_Mutation_p.P743L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	779	Interaction with PPP2CA.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.P779L(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637																																						uc002cgp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|liver(1)	2						c.(2335-2337)CCG>CTG		axin 1 isoform a							59.0	55.0	56.0					16																	339566		2199	4299	6498	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339566G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2336C>T	16.37:g.339566G>A	ENSP00000262320:p.Pro779Leu					AXIN1_uc002cgq.1_Missense_Mutation_p.P743L	p.P779L	NM_003502	NP_003493	O15169	AXIN1_HUMAN			10	2513	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	779			Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2336C>T	CCDS10405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.49|14.49	2.551173|2.551173	0.45383|0.45383	.|.	.|.	ENSG00000103126|ENSG00000103126	ENST00000262320;ENST00000354866|ENST00000457798	T;T|.	0.62232|.	0.18;0.04|.	4.44|4.44	3.48|3.48	0.39840|0.39840	.|.	0.177429|.	0.51477|.	N|.	0.000094|.	T|T	0.57301|0.57301	0.2044|0.2044	L|L	0.52364|0.52364	1.645|1.645	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.12630|.	0.003;0.006|.	B;B|.	0.12837|.	0.008;0.003|.	T|T	0.52298|0.52298	-0.8594|-0.8594	10|5	0.25751|.	T|.	0.34|.	-20.0698|-20.0698	8.8337|8.8337	0.35100|0.35100	0.1741:0.0:0.8259:0.0|0.1741:0.0:0.8259:0.0	.|.	743;779|.	O15169-2;O15169|.	.;AXIN1_HUMAN|.	L|C	779;743|31	ENSP00000262320:P779L;ENSP00000346935:P743L|.	ENSP00000262320:P779L|.	P|R	-|-	2|1	0|0	AXIN1|AXIN1	279567|279567	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.058000|0.058000	0.15608|0.15608	4.696000|4.696000	0.61774|0.61774	0.873000|0.873000	0.35799|0.35799	0.313000|0.313000	0.20887|0.20887	CCG|CGT		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3				6	34	0	0	0	0.001168	0	6	34		
MAPK8IP3	23162	broad.mit.edu	37	16	1797074	1797074	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:1797074C>T	ENST00000250894.4	+	6	946	c.789C>T	c.(787-789)gcC>gcT	p.A263A	MAPK8IP3_ENST00000356010.5_Silent_p.A263A|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	263					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.A264A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCTCGGCGGCCGCCACACCCA	0.667																																						uc002cmk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|central_nervous_system(1)	3						c.(787-789)GCC>GCT		mitogen-activated protein kinase 8 interacting							42.0	66.0	58.0					16																	1797074		2154	4263	6417	SO:0001819	synonymous_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1797074C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.789C>T	16.37:g.1797074C>T						MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.A263A|MAPK8IP3_uc010uvl.1_Silent_p.A264A	p.A263A	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			6	909	+			263					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.789C>T	CCDS10442.2																																																																																				0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2		NM_001040439		3	21	0	0	0	0.000602	0	3	21		
OR2C1	4993	broad.mit.edu	37	16	3406140	3406140	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:3406140C>G	ENST00000304936.2	+	1	252	c.200C>G	c.(199-201)tCc>tGc	p.S67C		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	67					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67C(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGCAACCTCTCCTCCTTGGAC	0.522																																						uc002cuw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(199-201)TCC>TGC		olfactory receptor, family 2, subfamily C,							164.0	141.0	149.0					16																	3406140		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406140C>G	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.200C>G	16.37:g.3406140C>G	ENSP00000307726:p.Ser67Cys						p.S67C	NM_012368	NP_036500	O95371	OR2C1_HUMAN			1	252	+			67			Helical; Name=2; (Potential).		A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.200C>G	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	c	15.08	2.727847	0.48833	.	.	ENSG00000168158	ENST00000304936	T	0.12361	2.69	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	N	0.001186	T	0.50000	0.1590	H	0.98370	4.215	0.31347	N	0.682989	D	0.89917	1.0	D	0.79108	0.992	T	0.67405	-0.5679	10	0.87932	D	0	.	8.0797	0.30737	0.0:0.8917:0.0:0.1083	.	67	O95371	OR2C1_HUMAN	C	67	ENSP00000307726:S67C	ENSP00000307726:S67C	S	+	2	0	OR2C1	3346141	0.039000	0.19947	1.000000	0.80357	0.910000	0.53928	2.195000	0.42677	2.241000	0.73720	0.401000	0.26515	TCC		0.522	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3				37	161	0	0	0	0.006999	0	37	161		
CREBBP	1387	broad.mit.edu	37	16	3807965	3807965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:3807965G>A	ENST00000262367.5	-	18	4263	c.3454C>T	c.(3454-3456)Cag>Tag	p.Q1152*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1114*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1152	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with histone. {ECO:0000269|PubMed:24361270}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1152*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCACGTACTGCCAGGGCTCT	0.458			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Nonsense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3454-3456)CAG>TAG		CREB binding protein isoform a							123.0	105.0	111.0					16																	3807965		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807965G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3454C>T	16.37:g.3807965G>A	ENSP00000262367:p.Gln1152*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q1114*	p.Q1152*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	18	3658	-		Ovarian(90;0.0266)	1152			Bromo.		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.3454C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	49	15.985859	0.99851	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.1587	19.9121	0.97027	0.0:0.0:1.0:0.0	.	.	.	.	X	1152;1182;1114	.	ENSP00000262367:Q1152X	Q	-	1	0	CREBBP	3747966	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.731000	0.98807	2.712000	0.92718	0.585000	0.79938	CAG		0.458	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		16	65	0	0	0	0.004007	0	16	65		
ITPRIPL2	162073	broad.mit.edu	37	16	19126049	19126049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:19126049C>T	ENST00000381440.3	+	1	796	c.266C>T	c.(265-267)tCg>tTg	p.S89L	CTD-2349B8.1_ENST00000564808.2_Silent_p.L70L	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	89						integral component of membrane (GO:0016021)		p.S89L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTTCTCCTCGAGACACTTC	0.662																																						uc002dfu.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(265-267)TCG>TTG		inositol 1,4,5-triphosphate receptor interacting																																				SO:0001583	missense	162073					integral to membrane		g.chr16:19126049C>T		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.266C>T	16.37:g.19126049C>T	ENSP00000370849:p.Ser89Leu					ITPRIPL2_uc002dft.2_5'UTR	p.S89L	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN			1	796	+			89			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000381440.3	37	c.266C>T	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451914	0.43531	.	.	ENSG00000205730	ENST00000381440	T	0.15017	2.46	3.9	1.68	0.24146	.	1.429300	0.05182	U	0.501457	T	0.09730	0.0239	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.10450	0.005	T	0.29761	-1.0001	10	0.41790	T	0.15	-2.4666	6.8405	0.23961	0.3064:0.5324:0.1611:0.0	.	89	Q3MIP1	IPIL2_HUMAN	L	89	ENSP00000370849:S89L	ENSP00000370849:S89L	S	+	2	0	ITPRIPL2	19033550	0.003000	0.15002	0.001000	0.08648	0.575000	0.36095	1.020000	0.30027	0.740000	0.32651	-0.499000	0.04595	TCG		0.662	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3		NM_001034841		5	14	0	0	0	0.001168	0	5	14		
TAOK2	9344	broad.mit.edu	37	16	29998037	29998037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:29998037G>A	ENST00000308893.4	+	16	3487	c.2444G>A	c.(2443-2445)aGg>aAg	p.R815K	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.R642K|TAOK2_ENST00000543033.1_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	815	Glu-rich.				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)	p.R815K(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AAGCAGCAGAGGATTCTGGGG	0.552																																						uc002dva.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2443-2445)AGG>AAG		TAO kinase 2 isoform 2							86.0	98.0	94.0					16																	29998037		2197	4299	6496	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.chr16:29998037G>A	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.2444G>A	16.37:g.29998037G>A	ENSP00000310094:p.Arg815Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R822K|TAOK2_uc002dvd.1_Missense_Mutation_p.R642K	p.R815K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3227	+			815			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.2444G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255948	0.39896	.	.	ENSG00000149930	ENST00000308893	T	0.70749	-0.51	5.32	4.35	0.52113	.	0.450652	0.24960	N	0.034239	T	0.54415	0.1857	N	0.14661	0.345	0.26329	N	0.977543	P;B;P	0.42409	0.779;0.066;0.779	B;B;B	0.41236	0.351;0.053;0.351	T	0.46830	-0.9163	9	.	.	.	.	13.0398	0.58893	0.0:0.1624:0.8376:0.0	.	1006;642;815	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	K	815	ENSP00000310094:R815K	.	R	+	2	0	TAOK2	29905538	0.967000	0.33354	0.998000	0.56505	0.768000	0.43524	1.501000	0.35693	1.215000	0.43411	0.563000	0.77884	AGG		0.552	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		10	76	0	0	0	0.008291	0	10	76		
ZNF689	115509	broad.mit.edu	37	16	30620909	30620909	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:30620909C>T	ENST00000287461.3	-	2	593	c.256G>A	c.(256-258)Gat>Aat	p.D86N	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D86N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TCCCAGTCATCGGTGTTTCGT	0.567																																						uc002dyx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(256-258)GAT>AAT		zinc finger protein HIT-39							118.0	112.0	114.0					16																	30620909		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30620909C>T	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.256G>A	16.37:g.30620909C>T	ENSP00000287461:p.Asp86Asn					ZNF689_uc010bzy.2_5'UTR	p.D86N	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		2	576	-			86			KRAB.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.256G>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	c	14.56	2.571237	0.45798	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.06449	3.3	4.31	2.35	0.29111	Krueppel-associated box (2);	0.389899	0.18859	N	0.129185	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41215	-0.9521	10	0.30078	T	0.28	-6.2982	8.3794	0.32461	0.0:0.7994:0.0:0.2006	.	86	Q96CS4	ZN689_HUMAN	N	86	ENSP00000287461:D86N	ENSP00000287461:D86N	D	-	1	0	ZNF689	30528410	0.318000	0.24598	0.031000	0.17742	0.894000	0.52154	1.908000	0.39907	1.179000	0.42884	0.561000	0.74099	GAT		0.567	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1		NM_138447		9	53	0	0	0	0.008291	0	9	53		
SRCAP	10847	broad.mit.edu	37	16	30735080	30735080	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:30735080C>T	ENST00000262518.4	+	25	4720	c.4335C>T	c.(4333-4335)acC>acT	p.T1445T	SRCAP_ENST00000395059.2_Silent_p.T1383T|SRCAP_ENST00000344771.4_Silent_p.T1287T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1445	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.T1445T(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGTCCCCACCACACTTCCTG	0.567																																						uc002dze.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(4333-4335)ACC>ACT		Snf2-related CBP activator protein							251.0	212.0	225.0					16																	30735080		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735080C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4335C>T	16.37:g.30735080C>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T1240T|SRCAP_uc010bzz.1_Silent_p.T1015T	p.T1445T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4720	+			1445			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.4335C>T	CCDS10689.2																																																																																				0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		32	118	0	0	0	0.009535	0	32	118		
ABCC12	94160	broad.mit.edu	37	16	48177901	48177901	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:48177901C>T	ENST00000311303.3	-	2	540	c.195G>A	c.(193-195)gtG>gtA	p.V65V	ABCC12_ENST00000416054.1_Silent_p.V65V|ABCC12_ENST00000448542.1_Silent_p.V65V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	65						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V65V(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)				GGTAGCCTTTCACCATCACCG	0.552																																						uc002efc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(193-195)GTG>GTA		ATP-binding cassette protein C12							117.0	98.0	104.0					16																	48177901		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48177901C>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.195G>A	16.37:g.48177901C>T						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.V65V|ABCC12_uc010vgj.1_RNA	p.V65V	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			2	541	-		all_cancers(37;0.0474)|all_lung(18;0.047)	65					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.195G>A	CCDS10730.1																																																																																				0.552	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1		NM_033226		12	163	0	0	0	0.010729	0	12	163		
ADCY7	113	broad.mit.edu	37	16	50339495	50339495	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50339495G>A	ENST00000394697.2	+	13	2017	c.1677G>A	c.(1675-1677)acG>acA	p.T559T	ADCY7_ENST00000254235.3_Silent_p.T559T|ADCY7_ENST00000538642.1_Silent_p.T559T|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Silent_p.T559T			P51828	ADCY7_HUMAN	adenylate cyclase 7	559					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.T559T(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCAGCTCCACGAGGTGAGGTC	0.612																																						uc002egd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1675-1677)ACG>ACA		adenylate cyclase 7	Bromocriptine(DB01200)						140.0	128.0	132.0					16																	50339495		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339495G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1677G>A	16.37:g.50339495G>A						ADCY7_uc002egc.1_Silent_p.T559T	p.T559T	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	12	1945	+		all_cancers(37;0.0127)	559			Cytoplasmic (Potential).		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1677G>A	CCDS10741.1																																																																																				0.612	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3				53	88	0	0	0	0.01441	0	53	88		
ADCY7	113	broad.mit.edu	37	16	50339739	50339739	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50339739G>A	ENST00000394697.2	+	14	2071	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	ADCY7_ENST00000254235.3_Silent_p.L577L|ADCY7_ENST00000538642.1_Silent_p.L577L|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Silent_p.L577L			P51828	ADCY7_HUMAN	adenylate cyclase 7	577					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.L577L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCATCTTCCTGGAGAAGGGCT	0.672																																						uc002egd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1729-1731)CTG>CTA		adenylate cyclase 7	Bromocriptine(DB01200)						56.0	54.0	54.0					16																	50339739		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339739G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1731G>A	16.37:g.50339739G>A						ADCY7_uc002egc.1_Silent_p.L577L	p.L577L	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	13	1999	+		all_cancers(37;0.0127)	577			Cytoplasmic (Potential).		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.1731G>A	CCDS10741.1																																																																																				0.672	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3				30	44	0	0	0	0.010818	0	30	44		
BRD7	29117	broad.mit.edu	37	16	50383964	50383964	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:50383964G>A	ENST00000394688.3	-	5	720	c.561C>T	c.(559-561)aaC>aaT	p.N187N	snoU13_ENST00000459559.1_RNA|BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Silent_p.N187N			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	187	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N187N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GATAGTCATTGTTCTTGATCT	0.343																																						uc002egf.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(559-561)AAC>AAT		bromodomain containing 7							175.0	170.0	171.0					16																	50383964		2198	4299	6497	SO:0001819	synonymous_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50383964G>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.561C>T	16.37:g.50383964G>A						BRD7_uc002ege.1_Silent_p.N187N	p.N187N	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN			6	628	-		all_cancers(37;0.0127)	187			Bromo.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	37	c.561C>T	CCDS10742.1																																																																																				0.343	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263		86	121	0	0	0	0.01441	0	86	121		
PRSS54	221191	broad.mit.edu	37	16	58314274	58314274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:58314274C>T	ENST00000219301.4	-	7	1436	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E348K|PRSS54_ENST00000543437.1_Missense_Mutation_p.E249K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	348						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E348K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACAGACGCCTCAGGAGACCTG	0.478																																						uc002enf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1042-1044)GAG>AAG		plasma kallikrein-like protein 4 precursor							138.0	119.0	125.0					16																	58314274		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58314274C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.1042G>A	16.37:g.58314274C>T	ENSP00000219301:p.Glu348Lys					PRSS54_uc002eng.2_Missense_Mutation_p.E348K|PRSS54_uc010vie.1_Missense_Mutation_p.E249K|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	p.E348K	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			7	1437	-			348					Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.1042G>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748177	0.15710	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88975	-2.45;-2.44	5.78	3.8	0.43715	.	1.173290	0.06062	N	0.658540	T	0.76492	0.3995	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.18263	0.021	T	0.62440	-0.6854	10	0.09590	T	0.72	-0.2906	7.499	0.27507	0.0:0.7422:0.1677:0.0901	.	348	Q6PEW0	PRS54_HUMAN	K	348;249	ENSP00000219301:E348K;ENSP00000437705:E249K	ENSP00000219301:E348K	E	-	1	0	PRSS54	56871775	0.004000	0.15560	0.002000	0.10522	0.021000	0.10359	1.025000	0.30090	0.758000	0.33059	0.563000	0.77884	GAG		0.478	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1		NM_001080492		22	63	0	0	0	0.012319	0	22	63		
RRAD	6236	broad.mit.edu	37	16	66957559	66957559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:66957559G>A	ENST00000299759.6	-	4	759	c.509C>T	c.(508-510)tCa>tTa	p.S170L	RRAD_ENST00000420652.1_Missense_Mutation_p.S170L			P55042	RAD_HUMAN	Ras-related associated with diabetes	170					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S170L(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GTCCGTCACTGAGTACACAAT	0.607																																						uc002eqn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(508-510)TCA>TTA		Ras-related associated with diabetes							120.0	108.0	112.0					16																	66957559		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957559G>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.509C>T	16.37:g.66957559G>A	ENSP00000299759:p.Ser170Leu					RRAD_uc002eqo.2_Missense_Mutation_p.S170L	p.S170L	NM_001128850	NP_001122322	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	4	661	-		Ovarian(137;0.192)	170					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.509C>T	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491235	0.96339	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	D;D	0.81499	-1.5;-1.5	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94085	0.8104	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96597	0.9442	10	0.87932	D	0	.	18.2596	0.90030	0.0:0.0:1.0:0.0	.	170	P55042	RAD_HUMAN	L	170	ENSP00000388744:S170L;ENSP00000299759:S170L	ENSP00000299759:S170L	S	-	2	0	RRAD	65515060	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.869000	0.99810	2.375000	0.81037	0.561000	0.74099	TCA		0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1		NM_004165		22	69	0	0	0	0.00278	0	22	69		
CES2	8824	broad.mit.edu	37	16	66976646	66976646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:66976646G>A	ENST00000317091.4	+	10	2554	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	CES2_ENST00000417689.1_Intron|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	460					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.E524K(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	CCATGGTGATGAGCTTCCTTT	0.552																																					Ovarian(70;1230 1691 37888 38351)	uc002eqr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1570-1572)GAG>AAG		carboxylesterase 2 isoform 1							102.0	97.0	99.0					16																	66976646		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976646G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1570G>A	16.37:g.66976646G>A	ENSP00000317842:p.Glu524Lys					CES2_uc002eqq.2_Intron|CES2_uc002eqs.2_Missense_Mutation_p.E367K	p.E524K	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	10	2570	+		Ovarian(137;0.0563)	460					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1570G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172001	0.78452	.	.	ENSG00000172831	ENST00000317091	T	0.68479	-0.33	5.12	5.12	0.69794	Carboxylesterase, type B (1);	0.000000	0.56097	D	0.000023	D	0.88160	0.6362	H	0.97564	4.03	0.52099	D	0.999943	D	0.67145	0.996	D	0.71414	0.973	D	0.92172	0.5744	10	0.87932	D	0	.	17.3528	0.87328	0.0:0.0:1.0:0.0	.	460	O00748	EST2_HUMAN	K	524	ENSP00000317842:E524K	ENSP00000317842:E524K	E	+	1	0	CES2	65534147	1.000000	0.71417	0.972000	0.41901	0.009000	0.06853	6.453000	0.73488	2.655000	0.90218	0.650000	0.86243	GAG		0.552	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2		NM_003869		11	51	0	0	0	0.010729	0	11	51		
RLTPR	146206	broad.mit.edu	37	16	67683380	67683380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67683380C>T	ENST00000334583.6	+	20	2105	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R557W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	593	Tropomodulin-like.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.R633W(1)|p.R593W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCTGAGTCTCGGCTGAAGCT	0.632																																						uc002etn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(1777-1779)CGG>TGG		RGD motif, leucine rich repeats, tropomodulin							45.0	51.0	49.0					16																	67683380		2053	4209	6262	SO:0001583	missense	146206							g.chr16:67683380C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1777C>T	16.37:g.67683380C>T	ENSP00000334958:p.Arg593Trp					RLTPR_uc010cel.1_Missense_Mutation_p.R586W|RLTPR_uc010vjr.1_Missense_Mutation_p.R557W	p.R593W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	20	1897	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	593			Tropomodulin-like.|LRR 13.		B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.1777C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736230	0.69189	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.54675	0.56;0.56	5.09	-0.0149	0.13978	.	0.292428	0.29760	N	0.011270	T	0.60945	0.2308	L	0.55213	1.73	0.25190	N	0.990134	D;D	0.89917	1.0;1.0	D;D	0.67548	0.936;0.952	T	0.54516	-0.8282	10	0.87932	D	0	-15.7767	9.6382	0.39822	0.486:0.4422:0.0:0.0718	.	557;593	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	W	593;557	ENSP00000334958:R593W;ENSP00000441481:R557W	ENSP00000334958:R593W	R	+	1	2	RLTPR	66240881	0.854000	0.29725	0.889000	0.34880	0.997000	0.91878	1.730000	0.38125	0.129000	0.18514	0.561000	0.74099	CGG		0.632	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838		6	26	0	0	0	0.00308	0	6	26		
CENPT	80152	broad.mit.edu	37	16	67859121	67859121	+	IGR	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67859121G>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.D254N|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.D200N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.D185N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D200N(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CCTCATCGCAGACCTGAATGA	0.542																																						uc002euj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(598-600)GAC>AAC		translin-associated factor X interacting protein							100.0	104.0	103.0					16																	67859121		2078	4217	6295	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67859121G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859121G>A						TSNAXIP1_uc010cep.2_Missense_Mutation_p.D64N|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.D77N|TSNAXIP1_uc002euf.3_5'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.D254N|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.D185N|TSNAXIP1_uc002eug.3_5'UTR|TSNAXIP1_uc002euh.3_5'UTR|TSNAXIP1_uc002eui.3_5'UTR|TSNAXIP1_uc002euk.2_5'UTR	p.D200N	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	7	992	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	200					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.598G>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850761	0.71719	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	T;T	0.00986	5.47;5.47	6.07	6.07	0.98685	.	0.271819	0.32736	N	0.005713	T	0.04182	0.0116	M	0.68952	2.095	0.36651	D	0.877383	D;D;D	0.76494	0.999;0.992;0.992	D;P;P	0.69479	0.964;0.856;0.856	T	0.26326	-1.0106	10	0.59425	D	0.04	-20.5441	11.5171	0.50529	0.081:0.0:0.919:0.0	.	185;254;200	E7ENJ7;B4DXD0;Q2TAA8	.;.;TXIP1_HUMAN	N	185;200	ENSP00000411472:D185N;ENSP00000373485:D200N	ENSP00000373485:D200N	D	+	1	0	TSNAXIP1	66416622	1.000000	0.71417	0.976000	0.42696	0.285000	0.27093	3.201000	0.51059	2.884000	0.98904	0.655000	0.94253	GAC		0.542	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1		NM_025082		15	45	0	0	0	0.00245	0	15	45		
SLC12A4	6560	broad.mit.edu	37	16	67985184	67985184	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:67985184C>T	ENST00000316341.3	-	9	1296	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	SLC12A4_ENST00000572037.1_Missense_Mutation_p.E338K|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E380K|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E388K|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E355K|SLC12A4_ENST00000338335.3_Missense_Mutation_p.E386K|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E386K	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	386					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.E386K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACCCTTCTCCAGGTAGGCG	0.632																																						uc002euz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1156-1158)GAG>AAG		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						113.0	101.0	105.0					16																	67985184		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985184C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1156G>A	16.37:g.67985184C>T	ENSP00000318557:p.Glu386Lys					SLC12A4_uc010ceu.2_Missense_Mutation_p.E380K|SLC12A4_uc010vkh.1_Missense_Mutation_p.E355K|SLC12A4_uc010vki.1_Missense_Mutation_p.E386K|SLC12A4_uc010vkj.1_Missense_Mutation_p.E388K|SLC12A4_uc002eva.2_Missense_Mutation_p.E386K|SLC12A4_uc002evb.2_RNA	p.E386K	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	9	1297	-		Ovarian(137;0.192)	386			Cytoplasmic (Potential).		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1156G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348008	0.24426	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.98	4.98	0.66077	.	0.101924	0.64402	D	0.000003	T	0.60792	0.2296	M	0.71036	2.16	0.49130	D	0.999757	B;B;B;B;B;B	0.25609	0.022;0.016;0.13;0.011;0.027;0.027	B;B;B;B;B;B	0.29077	0.015;0.007;0.098;0.015;0.015;0.007	T	0.56679	-0.7939	10	0.15952	T	0.53	.	14.2572	0.66060	0.0:0.8509:0.1491:0.0	.	388;386;355;380;386;386	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	K	388;355;380;386;386	ENSP00000395983:E388K;ENSP00000438334:E355K;ENSP00000445962:E380K;ENSP00000343374:E386K;ENSP00000318557:E386K	ENSP00000318557:E386K	E	-	1	0	SLC12A4	66542685	0.039000	0.19947	1.000000	0.80357	0.826000	0.46750	0.225000	0.17757	2.472000	0.83506	0.462000	0.41574	GAG		0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072		22	76	0	0	0	0.014323	0	22	76		
HP	3240	broad.mit.edu	37	16	72094456	72094456	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:72094456G>A	ENST00000355906.5	+	7	946	c.888G>A	c.(886-888)ctG>ctA	p.L296L	HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.L237L|HP_ENST00000570083.1_Silent_p.L237L|HP_ENST00000357763.4_Silent_p.L332L|HPR_ENST00000356967.5_Intron|HPR_ENST00000540303.2_5'Flank|HPR_ENST00000561690.1_5'Flank|HP_ENST00000565574.1_Silent_p.L237L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	296	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.L296L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CTGACCATCTGAAGTATGTCA	0.493																																						uc002fbr.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(886-888)CTG>CTA		haptoglobin isoform 1 preproprotein							72.0	75.0	74.0					16																	72094456		1962	4153	6115	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094456G>A		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.888G>A	16.37:g.72094456G>A						TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.L237L|HP_uc002fbt.3_Silent_p.L237L|HP_uc002fbu.1_Silent_p.L34L|HP_uc002fbv.3_Silent_p.L207L|HP_uc002fbw.3_Silent_p.L118L|HP_uc002fbx.3_Silent_p.L118L|HPR_uc002fby.2_5'Flank	p.L296L	NM_005143	NP_005134	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	932	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	296			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.888G>A	CCDS45524.1																																																																																				0.493	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1		NM_005143		15	36	0	0	0	0.00245	0	15	36		
HPR	3250	broad.mit.edu	37	16	72108235	72108235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:72108235G>C	ENST00000540303.2	+	3	176	c.144G>C	c.(142-144)ttG>ttC	p.L48F	HPR_ENST00000228226.8_Missense_Mutation_p.L85F|HPR_ENST00000356967.5_Missense_Mutation_p.L48F|HPR_ENST00000561690.1_Missense_Mutation_p.L48F	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	48	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.L48F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGGAGCACTTGTTTCGCTACC	0.493																																						uc002fby.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(142-144)TTG>TTC		haptoglobin-related protein precursor							220.0	136.0	163.0					16																	72108235		1967	4141	6108	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108235G>C	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.144G>C	16.37:g.72108235G>C	ENSP00000441828:p.Leu48Phe					TXNL4B_uc010cgl.2_Intron	p.L48F	NM_020995	NP_066275	P00739	HPTR_HUMAN			3	174	+		Ovarian(137;0.125)	48			Sushi.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.144G>C	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	G	3.072	-0.190844	0.06299	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.50548	0.74;0.74;0.74	2.4	1.41	0.22369	Complement control module (2);	1.901340	0.02472	N	0.087693	T	0.31575	0.0801	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.12682	-1.0538	10	0.09843	T	0.71	.	5.308	0.15815	0.1759:0.0:0.8241:0.0	.	48	P00739	HPTR_HUMAN	F	48;48;85	ENSP00000349451:L48F;ENSP00000441828:L48F;ENSP00000228226:L85F	ENSP00000228226:L85F	L	+	3	2	HP	70665736	0.000000	0.05858	0.016000	0.15963	0.000000	0.00434	-0.625000	0.05534	0.335000	0.23614	-0.970000	0.02610	TTG		0.493	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1		NM_020995		13	63	0	0	0	0.013537	0	13	63		
ADAMTS18	170692	broad.mit.edu	37	16	77325188	77325188	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:77325188C>A	ENST00000282849.5	-	21	3795	c.3377G>T	c.(3376-3378)gGa>gTa	p.G1126V	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1126	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1126V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAATACCATCCAGCTACCAT	0.502																																						uc002ffc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3376-3378)GGA>GTA		ADAM metallopeptidase with thrombospondin type 1							104.0	97.0	99.0					16																	77325188		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77325188C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3377G>T	16.37:g.77325188C>A	ENSP00000282849:p.Gly1126Val						p.G1126V	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			21	3796	-			1126			TSP type-1 5.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3377G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166262	0.57476	.	.	ENSG00000140873	ENST00000282849	T	0.59638	0.25	5.58	2.49	0.30216	.	0.231552	0.43747	D	0.000539	T	0.47525	0.1450	L	0.47016	1.485	0.58432	D	0.999999	B	0.16802	0.019	B	0.22753	0.041	T	0.28933	-1.0028	10	0.28530	T	0.3	.	9.9903	0.41868	0.0:0.6674:0.2616:0.071	.	1126	Q8TE60	ATS18_HUMAN	V	1126	ENSP00000282849:G1126V	ENSP00000282849:G1126V	G	-	2	0	ADAMTS18	75882689	0.137000	0.22531	0.178000	0.23040	0.507000	0.33981	1.182000	0.32029	0.286000	0.22352	0.563000	0.77884	GGA		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				5	77	1	0	0.00198382	0.001984	0.0020089	5	77		
ATP2C2	9914	broad.mit.edu	37	16	84473071	84473071	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:84473071C>T	ENST00000262429.4	+	13	1239	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.L384L	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	384					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.L384L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GACGGGGACTCTGACTGCCAA	0.502																																						uc002fhx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(1150-1152)CTG>TTG		ATPase, Ca++ transporting, type 2C, member 2							235.0	251.0	245.0					16																	84473071		2146	4257	6403	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84473071C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1150C>T	16.37:g.84473071C>T						ATP2C2_uc010chj.2_Silent_p.L384L|ATP2C2_uc002fhy.2_Silent_p.L401L|ATP2C2_uc002fhz.2_Silent_p.L233L	p.L384L	NM_014861	NP_055676	O75185	AT2C2_HUMAN			13	1239	+			384			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1150C>T	CCDS42207.1																																																																																				0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1		NM_014861		52	205	0	0	0	0.01441	0	52	205		
ZCCHC14	23174	broad.mit.edu	37	16	87445991	87445991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:87445991G>C	ENST00000268616.4	-	12	2142	c.1925C>G	c.(1924-1926)tCg>tGg	p.S642W		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	642							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.S642W(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AACAGATGACGACAGCAGCAG	0.592																																						uc002fjz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(1924-1926)TCG>TGG		zinc finger, CCHC domain containing 14							92.0	104.0	100.0					16																	87445991		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445991G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1925C>G	16.37:g.87445991G>C	ENSP00000268616:p.Ser642Trp					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S418W	p.S642W	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1952	-			642					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1925C>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140579	0.37825	.	.	ENSG00000140948	ENST00000268616	T	0.21543	2.0	5.83	4.88	0.63580	.	0.120329	0.56097	D	0.000021	T	0.34513	0.0900	L	0.29908	0.895	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.962	T	0.15636	-1.0430	10	0.87932	D	0	-11.1414	14.9095	0.70746	0.0686:0.0:0.9314:0.0	.	642;642	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	W	642	ENSP00000268616:S642W	ENSP00000268616:S642W	S	-	2	0	ZCCHC14	86003492	1.000000	0.71417	0.832000	0.32986	0.044000	0.14063	6.475000	0.73582	1.467000	0.48044	-0.251000	0.11542	TCG		0.592	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144		29	109	0	0	0	0.005443	0	29	109		
ZCCHC14	23174	broad.mit.edu	37	16	87446150	87446150	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr16:87446150G>C	ENST00000268616.4	-	12	1983	c.1766C>G	c.(1765-1767)tCc>tGc	p.S589C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	589							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.S589C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGACCAAAGGAGACTGTGGG	0.657																																						uc002fjz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(1765-1767)TCC>TGC		zinc finger, CCHC domain containing 14							43.0	49.0	47.0					16																	87446150		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446150G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1766C>G	16.37:g.87446150G>C	ENSP00000268616:p.Ser589Cys					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S365C	p.S589C	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1793	-			589					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1766C>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541300	0.27563	.	.	ENSG00000140948	ENST00000268616	T	0.20598	2.06	5.57	4.62	0.57501	.	0.272208	0.29066	N	0.013260	T	0.23926	0.0579	N	0.24115	0.695	0.30197	N	0.799001	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.818	T	0.10200	-1.0640	10	0.48119	T	0.1	-20.3844	4.5661	0.12187	0.0774:0.1212:0.5578:0.2435	.	589;589	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	C	589	ENSP00000268616:S589C	ENSP00000268616:S589C	S	-	2	0	ZCCHC14	86003651	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	1.936000	0.40183	1.341000	0.45600	-0.251000	0.11542	TCC		0.657	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144		8	46	0	0	0	0.00308	0	8	46		
MYO1C	4641	broad.mit.edu	37	17	1371362	1371362	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1371362T>C	ENST00000575158.1	-	28	2887	c.2711A>G	c.(2710-2712)cAg>cGg	p.Q904R	MYO1C_ENST00000545534.2_Missense_Mutation_p.Q915R|MYO1C_ENST00000359786.5_Missense_Mutation_p.Q939R|MYO1C_ENST00000438665.2_Missense_Mutation_p.Q920R|MYO1C_ENST00000361007.2_Missense_Mutation_p.Q904R			Q12965	MYO1E_HUMAN	myosin IC	783	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.Q904R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGCAGCAGCTGCCGGGAGCG	0.627																																						uc002fsp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2815-2817)CAG>CGG		myosin IC isoform a							59.0	55.0	56.0					17																	1371362		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1371362T>C	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2711A>G	17.37:g.1371362T>C	ENSP00000459174:p.Gln904Arg					MYO1C_uc002fsn.2_Missense_Mutation_p.Q920R|MYO1C_uc002fso.2_Missense_Mutation_p.Q904R|MYO1C_uc010vqj.1_Missense_Mutation_p.Q904R	p.Q939R	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	28	3036	-			939					Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.2816A>G	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004177	0.35320	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.7	5.7	0.88788	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.79475	2.455	0.58432	D	0.999997	D;D	0.67145	0.983;0.996	D;D	0.65010	0.917;0.931	T	0.60058	-0.7337	10	0.39692	T	0.17	.	15.1577	0.72755	0.0:0.0:0.0:1.0	.	939;920	O00159;O00159-3	MYO1C_HUMAN;.	R	939;920;920;904;915	ENSP00000352834:Q939R;ENSP00000412197:Q920R;ENSP00000354283:Q904R;ENSP00000437685:Q915R	ENSP00000352834:Q939R	Q	-	2	0	MYO1C	1318112	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	8.015000	0.88690	2.172000	0.68678	0.533000	0.62120	CAG		0.627	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				7	39	0	0	0	0.008291	0	7	39		
PRPF8	10594	broad.mit.edu	37	17	1576684	1576684	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1576684G>T	ENST00000572621.1	-	22	3889	c.3624C>A	c.(3622-3624)acC>acA	p.T1208T	PRPF8_ENST00000304992.6_Silent_p.T1208T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1208	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.T1208T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGTCCTTGTGGGTGAACTCCT	0.587																																						uc002fte.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|ovary(2)	6						c.(3622-3624)ACC>ACA		U5 snRNP-specific protein							92.0	79.0	84.0					17																	1576684		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576684G>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3624C>A	17.37:g.1576684G>T							p.T1208T	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	23	3738	-			1208					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.3624C>A	CCDS11010.1																																																																																				0.587	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				7	36	1	0	2.0095e-06	0.001984	2.05857e-06	7	36		
PRPF8	10594	broad.mit.edu	37	17	1576731	1576731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:1576731C>T	ENST00000572621.1	-	22	3842	c.3577G>A	c.(3577-3579)Gag>Aag	p.E1193K	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1193K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1193	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.E1193K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCGGCACTCGAAGCCACAC	0.577																																						uc002fte.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(2)	6						c.(3577-3579)GAG>AAG		U5 snRNP-specific protein							148.0	116.0	127.0					17																	1576731		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1576731C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3577G>A	17.37:g.1576731C>T	ENSP00000460348:p.Glu1193Lys						p.E1193K	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	23	3691	-			1193					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3577G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	36	5.731024	0.96856	.	.	ENSG00000174231	ENST00000304992	D	0.83163	-1.69	6.06	6.06	0.98353	.	0.087864	0.85682	D	0.000000	D	0.90273	0.6958	M	0.90483	3.12	0.80722	D	1	D	0.54397	0.966	P	0.49887	0.625	D	0.90869	0.4744	10	0.54805	T	0.06	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1193	Q6P2Q9	PRP8_HUMAN	K	1193	ENSP00000304350:E1193K	ENSP00000304350:E1193K	E	-	1	0	PRPF8	1523481	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.879000	0.98667	0.650000	0.86243	GAG		0.577	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				19	61	0	0	0	0.008871	0	19	61		
CLUH	23277	broad.mit.edu	37	17	2597243	2597243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:2597243C>T	ENST00000570628.2	-	19	3170	c.3065G>A	c.(3064-3066)tGc>tAc	p.C1022Y	CLUH_ENST00000435359.1_Missense_Mutation_p.C1022Y|CLUH_ENST00000538975.1_Missense_Mutation_p.C1022Y			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1022					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.C1023Y(2)									GAGGCGCAGGCAGGCGCAGGT	0.627																																						uc002fuy.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(2)	2						c.(3064-3066)TGC>TAC		hypothetical protein LOC23277							30.0	42.0	38.0					17																	2597243		2129	4228	6357	SO:0001583	missense	23277						binding	g.chr17:2597243C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3065G>A	17.37:g.2597243C>T	ENSP00000458986:p.Cys1022Tyr					KIAA0664_uc002fux.1_Missense_Mutation_p.C955Y|KIAA0664_uc010ckc.1_Missense_Mutation_p.C8Y	p.C1022Y	NM_015229	NP_056044	O75153	K0664_HUMAN			19	3151	-			1022			TPR 2.		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.3065G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	c	26.7	4.763452	0.89932	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.62788	-0.0;-0.0	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85520	0.1203	10	0.87932	D	0	.	18.2477	0.89992	0.0:1.0:0.0:0.0	.	1022;1023	O75153;C9J6D7	K0664_HUMAN;.	Y	1022;1023;1022	ENSP00000388872:C1022Y;ENSP00000439628:C1022Y	ENSP00000320468:C1023Y	C	-	2	0	KIAA0664	2543993	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.485000	0.81204	2.565000	0.86533	0.556000	0.70494	TGC		0.627	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		6	10	0	0	0	0.001984	0	6	10		
ATP2A3	489	broad.mit.edu	37	17	3856676	3856676	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:3856676C>T	ENST00000352011.3	-	3	238	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	ATP2A3_ENST00000397039.1_De_novo_Start_InFrame|ATP2A3_ENST00000397043.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000309890.7_Missense_Mutation_p.V62M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V62M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V62M			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	62					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V62M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGATGCGCACCAGGAGGTCC	0.647																																					GBM(32;29 774 15719 37967)	uc002fxb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(184-186)GTG>ATG		ATPase, Ca++ transporting, ubiquitous isoform b							84.0	79.0	81.0					17																	3856676		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3856676C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.184G>A	17.37:g.3856676C>T	ENSP00000301387:p.Val62Met					ATP2A3_uc002fwx.1_Missense_Mutation_p.V62M|ATP2A3_uc002fwy.1_Missense_Mutation_p.V62M|ATP2A3_uc002fwz.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxa.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxc.1_Missense_Mutation_p.V62M|ATP2A3_uc002fxd.1_Missense_Mutation_p.V62M	p.V62M	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	3	335	-			62			Helical; Name=1; (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.184G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857932	0.91433	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	4.58	4.58	0.56647	ATPase, P-type cation-transporter, N-terminal (2);ATPase, P-type,  transmembrane domain (1);	0.613757	0.15188	N	0.275726	D	0.91560	0.7334	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.79108	0.798;0.979;0.992;0.986;0.99;0.986	D	0.92560	0.6057	10	0.66056	D	0.02	.	16.8199	0.85743	0.0:1.0:0.0:0.0	.	62;62;62;62;62;62	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	62	ENSP00000380236:V62M;ENSP00000301387:V62M;ENSP00000353072:V62M;ENSP00000380234:V62M;ENSP00000312577:V62M;ENSP00000380229:V62M	ENSP00000312577:V62M	V	-	1	0	ATP2A3	3803425	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.795000	0.85887	2.456000	0.83038	0.491000	0.48974	GTG		0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1		NM_174953		7	61	0	0	0	0.00308	0	7	61		
ANKFY1	51479	broad.mit.edu	37	17	4086695	4086695	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:4086695G>A	ENST00000341657.4	-	14	1985	c.1950C>T	c.(1948-1950)gtC>gtT	p.V650V	CYB5D2_ENST00000573984.1_Intron|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000570535.1_Silent_p.V692V|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000574367.1_Silent_p.V650V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	650	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.V650V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCTACCTGACATTTATAT	0.488																																						uc002fxq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1948-1950)GTC>GTT		ankyrin repeat and FYVE domain containing 1							81.0	84.0	83.0					17																	4086695		2030	4207	6237	SO:0001819	synonymous_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4086695G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1950C>T	17.37:g.4086695G>A						ANKFY1_uc002fxn.2_Silent_p.V692V|ANKFY1_uc002fxo.2_Silent_p.V650V|ANKFY1_uc002fxp.2_Silent_p.V649V|ANKFY1_uc010ckp.2_Silent_p.V591V	p.V650V	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			14	1988	-			650			ANK 9.		A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37	c.1950C>T																																																																																					0.488	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1		NM_016376		22	89	0	0	0	0.00333	0	22	89		
GGT6	124975	broad.mit.edu	37	17	4462916	4462916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:4462916G>A	ENST00000574154.1	-	2	576	c.280C>T	c.(280-282)Cca>Tca	p.P94S	GGT6_ENST00000573591.1_5'UTR|GGT6_ENST00000301395.3_Missense_Mutation_p.P94S|GGT6_ENST00000381550.3_Missense_Mutation_p.P94S			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	94					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.P94S(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCGCCGGGTGGAGGGGCCACA	0.677																																						uc002fyd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(280-282)CCA>TCA		gamma-glutamyltransferase 6 isoform a							49.0	43.0	45.0					17																	4462916		2203	4299	6502	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4462916G>A	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.280C>T	17.37:g.4462916G>A	ENSP00000458307:p.Pro94Ser					GGT6_uc010vsb.1_5'UTR|GGT6_uc002fyc.3_Missense_Mutation_p.P94S|GGT6_uc010vsc.1_Missense_Mutation_p.P94S	p.P94S	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN			2	340	-			94			Extracellular (Potential).		B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.280C>T	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548375	0.45383	.	.	ENSG00000167741	ENST00000381550;ENST00000301395	T;T	0.23552	2.39;1.9	5.32	4.36	0.52297	.	0.455997	0.20071	N	0.099878	T	0.33789	0.0875	L	0.55481	1.735	0.27696	N	0.945951	D;D;D	0.63046	0.986;0.964;0.992	P;P;P	0.54544	0.573;0.476;0.755	T	0.11036	-1.0604	10	0.18710	T	0.47	-34.1192	10.4981	0.44789	0.0906:0.0:0.9094:0.0	.	94;94;94	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	S	94	ENSP00000370962:P94S;ENSP00000301395:P94S	ENSP00000301395:P94S	P	-	1	0	GGT6	4409665	0.922000	0.31269	0.085000	0.20634	0.096000	0.18686	2.752000	0.47516	1.408000	0.46895	-0.137000	0.14449	CCA		0.677	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1		NM_153338		11	16	0	0	0	0.008291	0	11	16		
ZNF594	84622	broad.mit.edu	37	17	5086687	5086687	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:5086687G>A	ENST00000399604.4	-	1	1005	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	ZNF594_ENST00000575779.1_Missense_Mutation_p.H289Y			Q96JF6	ZN594_HUMAN	zinc finger protein 594	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H289Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCCAGTGTGAATTCTCTGA	0.433																																						uc010cla.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(865-867)CAC>TAC		zinc finger protein 594							68.0	72.0	70.0					17																	5086687		2188	4289	6477	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086687G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.865C>T	17.37:g.5086687G>A	ENSP00000382513:p.His289Tyr						p.H289Y	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1021	-			289			C2H2-type 6.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.865C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405755	0.62288	.	.	ENSG00000180626	ENST00000399604	T	0.67523	-0.27	1.94	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84969	0.5590	H	0.95224	3.64	0.27591	N	0.949266	D	0.89917	1.0	D	0.78314	0.991	T	0.74731	-0.3566	9	0.87932	D	0	.	9.9031	0.41359	0.0:0.0:1.0:0.0	.	289	Q96JF6	ZN594_HUMAN	Y	289	ENSP00000382513:H289Y	ENSP00000382513:H289Y	H	-	1	0	ZNF594	5027411	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.012000	0.64017	1.409000	0.46915	0.462000	0.41574	CAC		0.433	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		21	154	0	0	0	0.012319	0	21	154		
NLRP1	22861	broad.mit.edu	37	17	5462822	5462822	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:5462822G>A	ENST00000572272.1	-	4	1193	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	NLRP1_ENST00000262467.5_Silent_p.I398I|NLRP1_ENST00000269280.4_Silent_p.I398I|NLRP1_ENST00000354411.3_Silent_p.I398I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Silent_p.I398I|NLRP1_ENST00000577119.1_Silent_p.I398I			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.I398I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCTAGACAGGATCTGTCTAA	0.577																																						uc002gci.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(1192-1194)ATC>ATT		NLR family, pyrin domain containing 1 isoform 1							45.0	46.0	46.0					17																	5462822		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462822G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1194C>T	17.37:g.5462822G>A						NLRP1_uc002gcg.1_Silent_p.I398I|NLRP1_uc002gck.2_Silent_p.I398I|NLRP1_uc002gcj.2_Silent_p.I398I|NLRP1_uc002gcl.2_Silent_p.I398I|NLRP1_uc002gch.3_Silent_p.I398I|NLRP1_uc010clh.2_Silent_p.I398I	p.I398I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			4	1749	-		Colorectal(1115;3.48e-05)	398			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.1194C>T	CCDS42246.1																																																																																				0.577	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1		NM_033004		6	38	0	0	0	0.004482	0	6	38		
SLC13A5	284111	broad.mit.edu	37	17	6610016	6610016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:6610016G>C	ENST00000433363.2	-	3	546	c.313C>G	c.(313-315)Ctg>Gtg	p.L105V	SLC13A5_ENST00000573648.1_Missense_Mutation_p.L105V|SLC13A5_ENST00000293800.6_Missense_Mutation_p.L105V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.L62V	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	105					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.L105V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CTCTTGTGCAGGTTCCAGCGC	0.627																																						uc002gdj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(313-315)CTG>GTG		solute carrier family 13, member 5 isoform a							68.0	56.0	60.0					17																	6610016		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6610016G>C	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.313C>G	17.37:g.6610016G>C	ENSP00000406220:p.Leu105Val					SLC13A5_uc010vtf.1_Missense_Mutation_p.L105V|SLC13A5_uc010clq.2_Missense_Mutation_p.L62V|SLC13A5_uc002gdk.2_Missense_Mutation_p.L105V|SLC13A5_uc002gdl.1_5'Flank	p.L105V	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			3	401	-			105					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.313C>G	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102725	0.76983	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T;T	0.12984	2.63;2.63;2.63	5.27	3.18	0.36537	.	0.067753	0.64402	D	0.000010	T	0.35098	0.0920	M	0.89840	3.065	0.58432	D	0.999997	D;D;D;D	0.58268	0.97;0.982;0.97;0.97	P;P;P;P	0.59012	0.85;0.767;0.85;0.85	T	0.22138	-1.0225	10	0.87932	D	0	.	8.4253	0.32725	0.0889:0.1592:0.7519:0.0	.	105;62;105;105	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	V	105;105;62	ENSP00000293800:L105V;ENSP00000406220:L105V;ENSP00000370464:L62V	ENSP00000293800:L105V	L	-	1	2	SLC13A5	6550740	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.694000	0.54742	2.653000	0.90120	0.561000	0.74099	CTG		0.627	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2		NM_177550		3	26	0	0	0	0.009096	0	3	26		
BCL6B	255877	broad.mit.edu	37	17	6930283	6930283	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:6930283G>C	ENST00000293805.5	+	8	1292	c.1200G>C	c.(1198-1200)cgG>cgC	p.R400R		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	400					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R400R(1)		skin(1)	1						CACATCTGCGGGCGCACGTGC	0.632																																						uc002geg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1198-1200)CGG>CGC		B-cell CLL/lymphoma 6, member B (zinc finger							51.0	61.0	58.0					17																	6930283		2120	4250	6370	SO:0001819	synonymous_variant	255877					nucleus	zinc ion binding	g.chr17:6930283G>C	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1200G>C	17.37:g.6930283G>C						BCL6B_uc010clt.1_Silent_p.R401R	p.R400R	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			8	1257	+			400			C2H2-type 3.		Q6PCB4	Silent	SNP	ENST00000293805.5	37	c.1200G>C	CCDS42248.1																																																																																				0.632	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2		NM_181844		11	56	0	0	0	0.008291	0	11	56		
ELP5	23587	broad.mit.edu	37	17	7160258	7160258	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7160258C>T	ENST00000396628.2	+	5	757	c.540C>T	c.(538-540)ctC>ctT	p.L180L	ELP5_ENST00000396627.2_Silent_p.L180L|ELP5_ENST00000354429.2_Silent_p.L180L|ELP5_ENST00000356683.2_Silent_p.L180L|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000574993.1_Silent_p.L180L	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	180					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)		p.L180L(2)									TGGGAGCTCTCAGCAGCCTTG	0.617																																						uc002gfg.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(538-540)CTC>CTT		S-phase 2 protein isoform 4							62.0	54.0	56.0					17																	7160258		2203	4300	6503	SO:0001819	synonymous_variant	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7160258C>T	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.540C>T	17.37:g.7160258C>T						C17orf81_uc002gfj.2_Silent_p.L180L|C17orf81_uc010cmb.2_Silent_p.L180L|C17orf81_uc002gfh.1_Silent_p.L180L|C17orf81_uc002gfi.1_Silent_p.L180L|C17orf81_uc002gfl.1_Silent_p.L180L	p.L180L	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			6	647	+			180					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Silent	SNP	ENST00000396628.2	37	c.540C>T	CCDS11094.1																																																																																				0.617	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1		NM_015362		13	29	0	0	0	0.00245	0	13	29		
GPS2	2874	broad.mit.edu	37	17	7217447	7217447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7217447G>A	ENST00000380728.2	-	5	649	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q117*|GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q117*|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	117					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.Q117*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AGGCTCTGCTGGTATGCAGCT	0.507																																						uc002gfv.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(349-351)CAG>TAG		G protein pathway suppressor 2							186.0	170.0	176.0					17																	7217447		2203	4300	6503	SO:0001587	stop_gained	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217447G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.349C>T	17.37:g.7217447G>A	ENSP00000370104:p.Gln117*					GPS2_uc002gfw.1_Nonsense_Mutation_p.Q79*|GPS2_uc002gfx.1_Nonsense_Mutation_p.Q117*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.Q117*	p.Q117*	NM_004489	NP_004480	Q13227	GPS2_HUMAN			4	612	-		Prostate(122;0.157)	117					B4DXA1|Q6FHM8	Nonsense_Mutation	SNP	ENST00000380728.2	37	c.349C>T	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	37	5.995081	0.97184	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.88	4.88	0.63580	.	0.198568	0.32106	U	0.006565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	16.9648	0.86282	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000319371:Q117X	Q	-	1	0	GPS2	7158171	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	6.657000	0.74402	2.548000	0.85928	0.655000	0.94253	CAG		0.507	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4		NM_004489		31	148	0	0	0	0.010818	0	31	148		
ACAP1	9744	broad.mit.edu	37	17	7250445	7250445	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7250445C>T	ENST00000158762.3	+	14	1433	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	409	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A409A(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						ACGTGGTGGCCCAGGTCCAGA	0.667																																						uc002ggd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|large_intestine(1)	3						c.(1225-1227)GCC>GCT		centaurin beta1							53.0	59.0	57.0					17																	7250445		2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250445C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1227C>T	17.37:g.7250445C>T							p.A409A	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			14	1433	+			409			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.1227C>T	CCDS11101.1																																																																																				0.667	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4		NM_014716		9	48	0	0	0	0.006214	0	9	48		
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655|rs397516437		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7577556C>A	ENST00000269305.4	-	7	914	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000420246.2_Missense_Mutation_p.C242F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C242F	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCGCCCATGCAGGAACTGTT	0.577		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		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(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	GRCh37	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		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.chr17:7577556C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>T	17.37:g.7577556C>A	ENSP00000269305:p.Cys242Phe	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.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	p.C242F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	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.725G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366336	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242F;ENSP00000352610:C242F;ENSP00000269305:C242F;ENSP00000398846:C242F;ENSP00000391127:C242F;ENSP00000391478:C242F;ENSP00000425104:C110F;ENSP00000423862:C149F	ENSP00000269305:C242F	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		8	39	1	0	0.000274275	0.004482	0.000279026	8	39		
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7578275G>A	ENST00000269305.4	-	6	763	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCC	0.557		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		144	Substitution - Nonsense(95)|Deletion - In frame(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(6)|Unknown(6)|Insertion - Frameshift(1)|Complex - frameshift(1)|Substitution - Missense(1)	p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(26)|ovary(20)|urinary_tract(15)|lung(12)|upper_aerodigestive_tract(10)|skin(8)|biliary_tract(7)|oesophagus(7)|large_intestine(6)|kidney(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(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.(574-576)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							89.0	80.0	83.0					17																	7578275		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578275G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.574C>T	17.37:g.7578275G>A	ENSP00000269305:p.Gln192*	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_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153*	p.Q192*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	192		Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; 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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.574C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269040	0.40095	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	3.36	0.38483	.	0.242461	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.6404	8.6971	0.34303	0.0:0.1484:0.545:0.3066	.	.	.	.	X	192;192;192;192;192;192;181;99;60;99;60	.	ENSP00000269305:Q192X	Q	-	1	0	TP53	7519000	1.000000	0.71417	0.987000	0.45799	0.035000	0.12851	2.163000	0.42377	0.732000	0.32470	0.655000	0.94253	CAG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		23	33	0	0	0	0.00278	0	23	33		
EFNB3	1949	broad.mit.edu	37	17	7612706	7612706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:7612706G>A	ENST00000226091.2	+	5	1232	c.835G>A	c.(835-837)Ggt>Agt	p.G279S		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	279					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)	p.G279S(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGCCTGGGGGGTGGAGGTGG	0.697																																						uc002gis.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(835-837)GGT>AGT		ephrin-B3 precursor							16.0	18.0	18.0					17																	7612706		2187	4268	6455	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612706G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.835G>A	17.37:g.7612706G>A	ENSP00000226091:p.Gly279Ser						p.G279S	NM_001406	NP_001397	Q15768	EFNB3_HUMAN			5	1232	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	279			Cytoplasmic (Potential).		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.835G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065191	0.36470	.	.	ENSG00000108947	ENST00000226091	D	0.90261	-2.64	5.0	3.01	0.34805	.	0.139225	0.47093	D	0.000241	T	0.82079	0.4959	L	0.29908	0.895	0.35906	D	0.830759	P	0.38473	0.633	B	0.30782	0.12	T	0.82530	-0.0411	10	0.62326	D	0.03	-9.3732	10.4293	0.44398	0.1608:0.0:0.8392:0.0	.	279	Q15768	EFNB3_HUMAN	S	279	ENSP00000226091:G279S	ENSP00000226091:G279S	G	+	1	0	EFNB3	7553431	1.000000	0.71417	0.509000	0.27700	0.910000	0.53928	4.061000	0.57485	0.523000	0.28482	0.643000	0.83706	GGT		0.697	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1		NM_001406		8	27	0	0	0	0.00308	0	8	27		
PIK3R5	23533	broad.mit.edu	37	17	8791859	8791859	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:8791859G>A	ENST00000447110.1	-	10	1369	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	PIK3R5_ENST00000581552.1_Silent_p.R415R|PIK3R5_ENST00000584803.1_Silent_p.R415R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	415					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.R415R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCCCAGGCCTGCGGTGGCCTC	0.632																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1243-1245)CGC>CGT		phosphoinositide-3-kinase, regulatory subunit 5							17.0	19.0	18.0					17																	8791859		2198	4299	6497	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791859G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1245C>T	17.37:g.8791859G>A						PIK3R5_uc010vuz.1_Silent_p.R415R|PIK3R5_uc002glu.3_Silent_p.R29R|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Silent_p.R29R	p.R415R	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			10	1312	-			415					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.1245C>T	CCDS11147.1																																																																																				0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308		10	9	0	0	0	0.008291	0	10	9		
LRRC48	83450	broad.mit.edu	37	17	17891266	17891266	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:17891266G>A	ENST00000399187.1	+	5	516	c.298G>A	c.(298-300)Gag>Aag	p.E100K	LRRC48_ENST00000584166.1_Missense_Mutation_p.E100K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E100K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E100K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E100K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	100						cytoplasm (GO:0005737)		p.E100K(2)		breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAACAACATTGAGACCATCGA	0.552																																						uc010vxd.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)	1						c.(298-300)GAG>AAG		leucine rich repeat containing 48 isoform a							73.0	74.0	73.0					17																	17891266		1990	4156	6146	SO:0001583	missense	83450					cytoplasm		g.chr17:17891266G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.298G>A	17.37:g.17891266G>A	ENSP00000382140:p.Glu100Lys					LRRC48_uc002gsa.2_Missense_Mutation_p.E100K|LRRC48_uc010vxc.1_Missense_Mutation_p.E100K|LRRC48_uc002gsb.2_Missense_Mutation_p.E100K	p.E100K	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN			6	677	+	all_neural(463;0.228)		100			LRR 3.		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.298G>A	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237143	0.79800	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.11	4.15	0.48705	.	0.098404	0.64402	N	0.000002	T	0.36496	0.0969	N	0.17474	0.49	0.80722	D	1	P;P	0.40066	0.622;0.701	P;B	0.45660	0.489;0.356	T	0.07309	-1.0779	10	0.17832	T	0.49	-24.9298	12.3282	0.55024	0.0831:0.0:0.9169:0.0	.	100;100	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	100	ENSP00000326870:E100K;ENSP00000394020:E100K;ENSP00000382140:E100K;ENSP00000382136:E100K	ENSP00000326870:E100K	E	+	1	0	LRRC48	17831991	1.000000	0.71417	0.923000	0.36655	0.872000	0.50106	5.020000	0.64066	1.159000	0.42565	0.655000	0.94253	GAG		0.552	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3		NM_031294		9	43	0	0	0	0.006214	0	9	43		
B9D1	27077	broad.mit.edu	37	17	19251136	19251136	+	Missense_Mutation	SNP	C	C	T	rs148240978		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:19251136C>T	ENST00000261499.4	-	4	445	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	B9D1_ENST00000395615.1_Missense_Mutation_p.R101Q|B9D1_ENST00000268841.6_Missense_Mutation_p.R101Q|B9D1_ENST00000575403.1_Missense_Mutation_p.E77K|B9D1_ENST00000395616.3_Missense_Mutation_p.R101Q|B9D1_ENST00000477478.2_Missense_Mutation_p.E77K|B9D1_ENST00000461069.2_Missense_Mutation_p.R101Q	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	101	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)	p.R101Q(1)		large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCATAGCCTCGAACCACATC	0.607																																						uc002gvk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(301-303)CGA>CAA		B9 protein		C	GLN/ARG	0,4406		0,0,2203	118.0	74.0	89.0		302	5.4	1.0	17	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	B9D1	NM_015681.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	101/205	19251136	1,13005	2203	4300	6503	SO:0001583	missense	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19251136C>T	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.302G>A	17.37:g.19251136C>T	ENSP00000261499:p.Arg101Gln					B9D1_uc010cqm.1_Missense_Mutation_p.E77K|B9D1_uc002gvl.3_Missense_Mutation_p.E77K|B9D1_uc010vyr.1_Missense_Mutation_p.E121K|B9D1_uc010vys.1_Missense_Mutation_p.E152K|B9D1_uc010cqn.1_Missense_Mutation_p.E152K	p.R101Q	NM_015681	NP_056496	Q9UPM9	B9D1_HUMAN			4	466	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		101			B9.		Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.302G>A	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264246	0.95399	0.0	1.16E-4	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.84219	2.685	0.58432	D	0.999998	D	0.57899	0.981	P	0.51055	0.657	T	0.74225	-0.3734	10	0.19590	T	0.45	.	16.1304	0.81428	0.0:1.0:0.0:0.0	.	101	Q9UPM9	B9D1_HUMAN	Q	101;101;101;101;92	ENSP00000378977:R101Q;ENSP00000261499:R101Q;ENSP00000378978:R101Q;ENSP00000268841:R101Q;ENSP00000410835:R92Q	ENSP00000261499:R101Q	R	-	2	0	B9D1	19191729	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	5.092000	0.64511	2.536000	0.85505	0.561000	0.74099	CGA		0.607	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1		NM_015681		8	35	0	0	0	0.004482	0	8	35		
FOXN1	8456	broad.mit.edu	37	17	26856166	26856166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:26856166C>T	ENST00000226247.2	+	4	783	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	FOXN1_ENST00000579795.1_Nonsense_Mutation_p.Q252*	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	252					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q252*(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTCACACTATCAGTACCAGCG	0.567																																						uc010crm.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(754-756)CAG>TAG		forkhead box N1							140.0	123.0	129.0					17																	26856166		2203	4300	6503	SO:0001587	stop_gained	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26856166C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.754C>T	17.37:g.26856166C>T	ENSP00000226247:p.Gln252*					FOXN1_uc002hbj.2_Nonsense_Mutation_p.Q252*	p.Q252*	NM_003593	NP_003584	O15353	FOXN1_HUMAN			5	952	+	Lung NSC(42;0.00431)		252					B2R9Q7|O15352	Nonsense_Mutation	SNP	ENST00000226247.2	37	c.754C>T	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.628196	0.97718	.	.	ENSG00000109101	ENST00000226247	.	.	.	5.94	4.92	0.64577	.	0.068835	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.793	0.91982	0.0:0.8748:0.1252:0.0	.	.	.	.	X	252	.	ENSP00000226247:Q252X	Q	+	1	0	FOXN1	23880293	0.999000	0.42202	0.992000	0.48379	0.977000	0.68977	2.796000	0.47869	2.826000	0.97356	0.561000	0.74099	CAG		0.567	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1				14	90	0	0	0	0.00245	0	14	90		
NEK8	284086	broad.mit.edu	37	17	27068520	27068520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27068520G>A	ENST00000268766.6	+	14	2015	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000444415.3_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	661					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D672N(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGTGCAGTTGGATGAGACACA	0.567																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1981-1983)GAT>AAT		NIMA-related kinase 8							160.0	121.0	134.0					17																	27068520		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068520G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1981G>A	17.37:g.27068520G>A	ENSP00000268766:p.Asp661Asn					TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	p.D661N	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			14	1981	+	Lung NSC(42;0.0158)		661			RCC1 5.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1981G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262208	0.59431	.	.	ENSG00000160602	ENST00000268766	D	0.84516	-1.86	5.83	5.83	0.93111	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.151808	0.56097	D	0.000021	D	0.82527	0.5056	L	0.55481	1.735	0.58432	D	0.999997	B	0.19445	0.036	B	0.16289	0.015	T	0.76793	-0.2828	10	0.16896	T	0.51	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	661	Q86SG6	NEK8_HUMAN	N	661	ENSP00000268766:D661N	ENSP00000268766:D661N	D	+	1	0	NEK8	24092647	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.626000	0.74253	2.750000	0.94351	0.655000	0.94253	GAT		0.567	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2				15	64	0	0	0	0.00245	0	15	64		
TIAF1	9220	broad.mit.edu	37	17	27401192	27401192	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27401192C>G	ENST00000359450.6	-	1	4683	c.26G>C	c.(25-27)aGa>aCa	p.R9T	MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R9T|MYO18A_ENST00000354329.4_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	9					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)		p.R9T(1)		kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGACTGCTCTCTGAAGGGTGA	0.597																																						uc002hdv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(25-27)AGA>ACA		TGFB1-induced anti-apoptotic factor 1							44.0	46.0	45.0					17																	27401192		2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401192C>G	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.26G>C	17.37:g.27401192C>G	ENSP00000352424:p.Arg9Thr					MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	p.R9T	NM_004740	NP_004731	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	1436	-	Lung NSC(42;0.015)		9					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.26G>C	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	C	6.300	0.423523	0.11928	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.45	2.69	0.31865	.	.	.	.	.	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.08534	-1.0717	8	0.87932	D	0	.	5.3692	0.16131	0.1722:0.6811:0.0:0.1467	.	9	O95411	TIAF1_HUMAN	T	9	.	ENSP00000386130:R9T	R	-	2	0	TIAF1	24425318	0.010000	0.17322	0.002000	0.10522	0.450000	0.32258	1.603000	0.36794	0.321000	0.23259	0.655000	0.94253	AGA		0.597	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2		NM_004740		7	45	0	0	0	0.00308	0	7	45		
CORO6	84940	broad.mit.edu	37	17	27946710	27946710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:27946710C>T	ENST00000445145.2	-	2	281	c.280G>A	c.(280-282)Gac>Aac	p.D94N	CORO6_ENST00000388767.3_Missense_Mutation_p.D94N|CORO6_ENST00000345068.5_Missense_Mutation_p.D94N|CORO6_ENST00000577909.1_Intron|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000580212.1_Missense_Mutation_p.D94N|CORO6_ENST00000584969.1_Missense_Mutation_p.D94N|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	94					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.D94N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ATAACGTTGTCATTGTGTGGA	0.572																																						uc002hel.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(280-282)GAC>AAC		coronin 6							176.0	180.0	179.0					17																	27946710		2103	4235	6338	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27946710C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.280G>A	17.37:g.27946710C>T	ENSP00000393624:p.Asp94Asn					CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	p.D94N	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			2	282	-			94			WD 1.		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	C	17.46	3.394139	0.62066	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.01304	5.03;5.03	5.69	5.69	0.88448	.	0.101251	0.64402	D	0.000003	T	0.04363	0.0120	N	0.17312	0.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59847	-0.7377	10	0.87932	D	0	.	19.4156	0.94697	0.0:1.0:0.0:0.0	.	94	Q6QEF8-5	.	N	165;94;94	ENSP00000373419:D94N;ENSP00000393624:D94N	ENSP00000344562:D165N	D	-	1	0	CORO6	24970836	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.688000	0.91661	0.561000	0.74099	GAC		0.572	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1		NM_032854		23	141	0	0	0	0.012319	0	23	141		
TBC1D29	26083	broad.mit.edu	37	17	28887196	28887196	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:28887196A>G	ENST00000580161.1	+	3	2571	c.74A>G	c.(73-75)gAt>gGt	p.D25G	TBC1D29_ENST00000584297.1_Missense_Mutation_p.D25G|TBC1D29_ENST00000579181.1_Missense_Mutation_p.D25G|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	25	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.D25G(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GTGCTGAATGATGGGGTAAGG	0.627																																						uc002hfh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(73-75)GAT>GGT		TBC1 domain family, member 29							42.0	39.0	40.0					17																	28887196		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28887196A>G	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.74A>G	17.37:g.28887196A>G	ENSP00000462799:p.Asp25Gly					TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank	p.D25G	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN			2	223	+		Myeloproliferative disorder(56;0.0255)	25			Rab-GAP TBC; truncated.			Missense_Mutation	SNP	ENST00000580161.1	37	c.74A>G	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	10.45	1.352294	0.24512	.	.	ENSG00000197689	ENST00000329040;ENST00000378698	.	.	.	0.15	0.15	0.14883	Rab-GAP/TBC domain (2);	.	.	.	.	T	0.31167	0.0788	L	0.50333	1.59	0.09310	N	1	B	0.25904	0.137	B	0.18263	0.021	T	0.19321	-1.0309	7	0.31617	T	0.26	.	.	.	.	.	25	Q9UFV1	TBC29_HUMAN	G	25	.	ENSP00000330052:D25G	D	+	2	0	TBC1D29	25911322	0.302000	0.24454	0.004000	0.12327	0.004000	0.04260	0.069000	0.14552	0.168000	0.19655	0.166000	0.16787	GAT		0.627	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1		NM_015594		5	11	0	0	0	0.000602	0	5	11		
CCL15	6359	broad.mit.edu	37	17	34325917	34325917	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:34325917G>A	ENST00000354059.4	-	2	673	c.121C>T	c.(121-123)Cca>Tca	p.P41S	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.P41S|RP11-104J23.1_ENST00000590192.1_RNA	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	41					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.P41S(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAACTACTGGATTTTCCAGT	0.438																																						uc010wcu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(121-123)CCA>TCA		chemokine (C-C motif) ligand 15 precursor							142.0	123.0	130.0					17																	34325917		2203	4300	6503	SO:0001583	missense	6359				cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	g.chr17:34325917G>A	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.121C>T	17.37:g.34325917G>A	ENSP00000293276:p.Pro41Ser					CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	p.P41S	NM_032965	NP_116741	Q16663	CCL15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	690	-		Ovarian(249;0.17)	41					B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	ENST00000354059.4	37	c.121C>T	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.640643	0.00799	.	.	ENSG00000161574	ENST00000354059	T	0.04809	3.55	2.97	-4.83	0.03161	.	13.484300	0.00357	N	0.000021	T	0.02767	0.0083	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.37798	-0.9690	10	0.02654	T	1	.	2.1581	0.03818	0.1832:0.1609:0.4688:0.1871	.	41	Q16663	CCL15_HUMAN	S	41	ENSP00000293276:P41S	ENSP00000293276:P41S	P	-	1	0	CCL15	31350030	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.007000	0.12810	-1.132000	0.02907	-0.312000	0.09012	CCA		0.438	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2		NM_004167		41	70	0	0	0	0.011902	0	41	70		
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		7	Substitution - Missense(7)	p.S310F(2)|p.S310Y(1)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(928-930)TCC>TTC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868208C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1167	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	310			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.929C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				52	251	0	0	0	0.01441	0	52	251		
KRT34	3885	broad.mit.edu	37	17	39538574	39538574	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:39538574C>T	ENST00000394001.1	-	1	81	c.51G>A	c.(49-51)caG>caA	p.Q17Q		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	17	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.Q17Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCTTCCTCTGCAGTCCTT	0.458																																						uc002hwm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(49-51)CAG>CAA		keratin 34							94.0	91.0	92.0					17																	39538574		2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538574C>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.51G>A	17.37:g.39538574C>T							p.Q17Q	NM_021013	NP_066293	O76011	KRT34_HUMAN			1	63	-		Breast(137;0.000496)	17			Head.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.51G>A	CCDS11390.1																																																																																				0.458	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3		NM_021013		19	84	0	0	0	0.010504	0	19	84		
ACLY	47	broad.mit.edu	37	17	40070073	40070073	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:40070073G>A	ENST00000352035.2	-	2	184	c.54C>T	c.(52-54)ttC>ttT	p.F18F	ACLY_ENST00000393896.2_Silent_p.F18F|ACLY_ENST00000537919.1_Silent_p.F18F|ACLY_ENST00000590151.1_Silent_p.F18F|ACLY_ENST00000353196.1_Silent_p.F18F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	18	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.F18F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTACAGATGAACTTGTAAA	0.562																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(52-54)TTC>TTT		ATP citrate lyase isoform 1							202.0	176.0	185.0					17																	40070073		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40070073G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.54C>T	17.37:g.40070073G>A						ACLY_uc002hyh.2_Silent_p.F18F|ACLY_uc002hyi.2_Silent_p.F72F|ACLY_uc010wfx.1_Silent_p.F72F|ACLY_uc010wfy.1_Silent_p.F18F	p.F18F	NM_001096	NP_001087	P53396	ACLY_HUMAN			2	217	-		Breast(137;0.000143)	18					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.54C>T	CCDS11412.1																																																																																				0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		25	178	0	0	0	0.004656	0	25	178		
GRN	2896	broad.mit.edu	37	17	42429721	42429721	+	Missense_Mutation	SNP	G	G	C	rs63751698		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:42429721G>C	ENST00000053867.3	+	12	1488	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	GRN_ENST00000589265.1_Missense_Mutation_p.E319Q	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	476					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.E476Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTGTGCTGCGAGGATCGCCA	0.637																																						uc002igp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1426-1428)GAG>CAG		granulin precursor							43.0	41.0	42.0					17																	42429721		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429721G>C	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1426G>C	17.37:g.42429721G>C	ENSP00000053867:p.Glu476Gln					GRN_uc002igr.1_Missense_Mutation_p.E270Q	p.E476Q	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	12	1645	+		Prostate(33;0.0181)	476					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1426G>C	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015444	0.75161	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.72942	-0.7	5.26	5.26	0.73747	Granulin (3);	0.172381	0.39341	N	0.001395	T	0.81767	0.4892	M	0.68593	2.085	0.40760	D	0.982992	D;D	0.89917	0.988;1.0	D;D	0.85130	0.983;0.997	T	0.79167	-0.1915	10	0.23891	T	0.37	-26.3646	16.3608	0.83267	0.0:0.0:1.0:0.0	.	413;476	B4DJI2;P28799	.;GRN_HUMAN	Q	476;296	ENSP00000053867:E476Q	ENSP00000053867:E476Q	E	+	1	0	GRN	39785247	0.009000	0.17119	1.000000	0.80357	0.911000	0.54048	0.363000	0.20301	2.449000	0.82847	0.561000	0.74099	GAG		0.637	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1		NM_002087		6	28	0	0	0	0.001168	0	6	28		
PLCD3	113026	broad.mit.edu	37	17	43196285	43196285	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:43196285C>T	ENST00000322765.5	-	5	923	c.810G>A	c.(808-810)ctG>ctA	p.L270L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	270	EF-hand 3.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L270L(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CAGGGGCACTCAGCACGCGGT	0.652																																						uc002iib.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(2)|lung(1)	3						c.(808-810)CTG>CTA		phospholipase C delta 3	Phosphatidylserine(DB00144)						19.0	24.0	22.0					17																	43196285		2006	4156	6162	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43196285C>T	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.810G>A	17.37:g.43196285C>T							p.L270L	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN			5	924	-			270			EF-hand 3.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.810G>A																																																																																					0.652	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_133373		7	11	0	0	0	0.001984	0	7	11		
NFE2L1	4779	broad.mit.edu	37	17	46128694	46128694	+	Missense_Mutation	SNP	A	A	G	rs199935106	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:46128694A>G	ENST00000362042.3	+	2	830	c.214A>G	c.(214-216)Ata>Gta	p.I72V	NFE2L1_ENST00000585291.1_Missense_Mutation_p.I72V|NFE2L1_ENST00000357480.5_Missense_Mutation_p.I72V|NFE2L1_ENST00000361665.3_Missense_Mutation_p.I72V	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	72					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.I72V(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCAAGAGCATAGACCTGGA	0.567													A|||	2	0.000399361	0.0	0.0014	5008	,	,		16655	0.0		0.001	False		,,,				2504	0.0					uc002imz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(214-216)ATA>GTA		nuclear factor erythroid 2-like 1		A	VAL/ILE	0,4406		0,0,2203	104.0	102.0	102.0		214	3.0	1.0	17	dbSNP_132	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	NFE2L1	NM_003204.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	72/773	46128694	1,13005	2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128694A>G	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.214A>G	17.37:g.46128694A>G	ENSP00000354855:p.Ile72Val					NFE2L1_uc002ina.3_Missense_Mutation_p.I72V|NFE2L1_uc002inb.3_Missense_Mutation_p.I72V|NFE2L1_uc002inc.1_Missense_Mutation_p.I72V	p.I72V	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			2	865	+			72					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.214A>G	CCDS11524.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	10.76	1.441968	0.25900	0.0	1.16E-4	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.10382	2.97;2.88	5.3	2.98	0.34508	.	0.109437	0.64402	N	0.000008	T	0.01523	0.0049	N	0.00119	-2.075	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.35599	-0.9782	10	0.02654	T	1	-34.4783	4.8141	0.13358	0.5602:0.0:0.4398:0.0	.	72;72;72	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	V	91;72;72	ENSP00000355190:I72V;ENSP00000350072:I72V	ENSP00000350072:I72V	I	+	1	0	NFE2L1	43483693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.826000	0.55738	0.862000	0.35528	0.460000	0.39030	ATA		0.567	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1		NM_003204		38	115	0	0	0	0.003755	0	38	115		
SAMD14	201191	broad.mit.edu	37	17	48191613	48191613	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48191613C>T	ENST00000330175.4	-	8	1197	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.G322R	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	294								p.G322R(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCCAGGGCCCACTGGGGATC	0.597																																						uc002iqg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(880-882)GGG>AGG		sterile alpha motif domain containing 14							55.0	54.0	55.0					17																	48191613		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48191613C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.880G>A	17.37:g.48191613C>T	ENSP00000329144:p.Gly294Arg					SAMD14_uc002iqd.2_Missense_Mutation_p.G77R|SAMD14_uc002iqe.2_Missense_Mutation_p.G77R|SAMD14_uc002iqf.2_Missense_Mutation_p.G322R	p.G294R	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN			8	1179	-			294					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.880G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108192	0.37242	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.24	3.05	0.35203	.	0.666566	0.13965	N	0.350584	T	0.27697	0.0681	L	0.43152	1.355	0.09310	N	1	B;P	0.45474	0.089;0.859	B;B	0.40534	0.032;0.332	T	0.20739	-1.0266	9	0.72032	D	0.01	-5.5152	4.6172	0.12432	0.0:0.6438:0.0:0.3562	.	294;322	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	R	294;306;322	.	ENSP00000285206:G306R	G	-	1	0	SAMD14	45546612	0.001000	0.12720	0.259000	0.24435	0.603000	0.37013	1.047000	0.30367	1.219000	0.43474	0.561000	0.74099	GGG		0.597	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1		NM_174920		10	36	0	0	0	0.010729	0	10	36		
XYLT2	64132	broad.mit.edu	37	17	48434547	48434547	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48434547G>A	ENST00000017003.2	+	9	1924	c.1875G>A	c.(1873-1875)ctG>ctA	p.L625L	XYLT2_ENST00000507602.1_Silent_p.L625L	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	625					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.L625L(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGATGTGGCTGATGCCCCAAG	0.632																																						uc002iqo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(1873-1875)CTG>CTA		xylosyltransferase II							32.0	34.0	33.0					17																	48434547		2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48434547G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1875G>A	17.37:g.48434547G>A						XYLT2_uc010dbo.2_Intron	p.L625L	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			9	1984	+	Breast(11;7.18e-19)		625			Lumenal (Potential).		Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.1875G>A	CCDS11563.1																																																																																				0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1		NM_022167		6	15	0	0	0	0.001168	0	6	15		
LRRC59	55379	broad.mit.edu	37	17	48460409	48460409	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:48460409G>A	ENST00000225972.7	-	7	1099	c.864C>T	c.(862-864)gtC>gtT	p.V288V		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	288						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V288V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GTAGACCCTGGACCGCATTGT	0.607																																						uc002iqt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(862-864)GTC>GTT		leucine rich repeat containing 59							84.0	70.0	74.0					17																	48460409		2203	4300	6503	SO:0001819	synonymous_variant	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48460409G>A	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.864C>T	17.37:g.48460409G>A							p.V288V	NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		7	1018	-	Breast(11;5.62e-19)		288			Lumenal (Potential).		B2RE83|D3DTX8|Q9P189	Silent	SNP	ENST00000225972.7	37	c.864C>T	CCDS11566.1																																																																																				0.607	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2		NM_018509		6	8	0	0	0	0.001168	0	6	8		
RAD51C	5889	broad.mit.edu	37	17	56809868	56809868	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:56809868C>A	ENST00000337432.4	+	8	1060	c.989C>A	c.(988-990)cCc>cAc	p.P330H	RAD51C_ENST00000583539.1_Missense_Mutation_p.P330H	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	330					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.P330H(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACAAGTCACCCAGCCAGAAG	0.328								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(988-990)CCC>CAC	Homologous_recombination	RAD51 homolog C isoform 1							160.0	149.0	153.0					17																	56809868		2203	4300	6503	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56809868C>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.989C>A	17.37:g.56809868C>A	ENSP00000336701:p.Pro330His					RAD51C_uc010woa.1_Missense_Mutation_p.P330H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA	p.P330H	NM_058216	NP_478123	O43502	RA51C_HUMAN			8	1031	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		330					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.989C>A	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004317	0.74932	.	.	ENSG00000108384	ENST00000337432	T	0.62639	0.01	5.75	5.75	0.90469	DNA recombination and repair protein Rad51, C-terminal (1);	0.097273	0.64402	D	0.000001	T	0.82107	0.4965	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.957;0.99	D	0.85075	0.0942	10	0.87932	D	0	-14.3974	15.4309	0.75099	0.0:1.0:0.0:0.0	.	321;330	B4E0G0;O43502	.;RA51C_HUMAN	H	330	ENSP00000336701:P330H	ENSP00000336701:P330H	P	+	2	0	RAD51C	54164867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.265000	0.58865	2.715000	0.92844	0.585000	0.79938	CCC		0.328	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2		NM_058216		24	83	1	0	7.26314e-15	0.007291	7.58155e-15	24	83		
HELZ	9931	broad.mit.edu	37	17	65141898	65141898	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:65141898T>C	ENST00000358691.5	-	21	2896	c.2730A>G	c.(2728-2730)gtA>gtG	p.V910V	HELZ_ENST00000580168.1_Silent_p.V911V	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	910						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V910V(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTTTTTCTTGTACATCTTCTC	0.373																																						uc010wqk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(2731-2733)GTA>GTG		helicase with zinc finger domain							90.0	89.0	89.0					17																	65141898		1822	4075	5897	SO:0001819	synonymous_variant	9931							g.chr17:65141898T>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2730A>G	17.37:g.65141898T>C						HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.V910V	p.V911V	NM_014877	NP_055692					21	2920	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.2733A>G	CCDS42374.1																																																																																				0.373	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		11	108	0	0	0	0.008291	0	11	108		
ABCA6	23460	broad.mit.edu	37	17	67075194	67075194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:67075194C>G	ENST00000284425.2	-	39	4948	c.4774G>C	c.(4774-4776)Gaa>Caa	p.E1592Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1592					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1592Q(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACTTCCTGTTCTTTAGAAAGC	0.348																																						uc002jhw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4774-4776)GAA>CAA		ATP-binding cassette, sub-family A, member 6							95.0	97.0	96.0					17																	67075194		2202	4300	6502	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67075194C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4774G>C	17.37:g.67075194C>G	ENSP00000284425:p.Glu1592Gln						p.E1592Q	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			39	4949	-	Breast(10;5.65e-12)		1592					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4774G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954983	0.73902	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.80566	-1.39	4.36	4.36	0.52297	.	0.000000	0.43260	D	0.000596	D	0.87997	0.6319	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.88974	0.3403	10	0.62326	D	0.03	.	14.758	0.69583	0.0:1.0:0.0:0.0	.	1592	Q8N139	ABCA6_HUMAN	Q	1592;452	ENSP00000284425:E1592Q	ENSP00000284425:E1592Q	E	-	1	0	ABCA6	64586789	0.999000	0.42202	1.000000	0.80357	0.853000	0.48598	2.502000	0.45398	2.436000	0.82500	0.591000	0.81541	GAA		0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1		NM_080284		12	54	0	0	0	0.010729	0	12	54		
DNAI2	64446	broad.mit.edu	37	17	72301563	72301563	+	Missense_Mutation	SNP	C	C	T	rs143470009		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72301563C>T	ENST00000311014.6	+	9	1260	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.S398L|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.S255L|DNAI2_ENST00000579490.1_Missense_Mutation_p.S455L|DNAI2_ENST00000446837.2_Missense_Mutation_p.S398L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	398					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.S398L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCCGGGAATCGTCCATCATG	0.622									Kartagener syndrome																													uc002jkf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1192-1194)TCG>TTG		dynein, axonemal, intermediate polypeptide 2		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	46.0	47.0	47.0		1193,1193	5.0	0.9	17	dbSNP_134	47	0,8600		0,0,4300	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	398/594,398/606	72301563	1,13005	2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301563C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1193C>T	17.37:g.72301563C>T	ENSP00000308312:p.Ser398Leu					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	p.S398L	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			9	1292	+			398			WD 4.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1193C>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958176	0.92726	2.27E-4	0.0	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.71222	-0.55;-0.55;-0.55	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	P	0.57204	0.815	D	0.86915	0.2063	10	0.72032	D	0.01	-4.1949	18.2776	0.90088	0.0:1.0:0.0:0.0	.	398	Q9GZS0	DNAI2_HUMAN	L	398;255;398	ENSP00000308312:S398L;ENSP00000302929:S255L;ENSP00000400252:S398L	ENSP00000302929:S255L	S	+	2	0	DNAI2	69813158	1.000000	0.71417	0.949000	0.38748	0.811000	0.45836	7.500000	0.81588	2.315000	0.78130	0.556000	0.70494	TCG		0.622	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1		NM_023036		11	17	0	0	0	0.008291	0	11	17		
GRIN2C	2905	broad.mit.edu	37	17	72842905	72842905	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72842905T>C	ENST00000293190.5	-	10	2302	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	GRIN2C_ENST00000347612.4_Missense_Mutation_p.K719R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	719					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.K719R(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCACCCCATCTTGAGGCTGGT	0.617																																						uc002jlt.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|breast(2)	4						c.(2155-2157)AAG>AGG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						108.0	82.0	90.0					17																	72842905		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72842905T>C		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2156A>G	17.37:g.72842905T>C	ENSP00000293190:p.Lys719Arg					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.K719R	p.K719R	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			10	2312	-	all_lung(278;0.172)|Lung NSC(278;0.207)		719			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2156A>G	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800866	0.50315	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.27402	1.67	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.102733	0.64402	N	0.000005	T	0.44435	0.1293	L	0.39898	1.24	0.52501	D	0.999956	P;D	0.62365	0.907;0.991	P;D	0.70935	0.635;0.971	T	0.28996	-1.0026	10	0.44086	T	0.13	.	13.4388	0.61101	0.0:0.0:0.0:1.0	.	753;719	Q8IW23;Q14957	.;NMDE3_HUMAN	R	719;753	ENSP00000293190:K719R	ENSP00000293190:K719R	K	-	2	0	GRIN2C	70354500	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.085000	0.71343	2.061000	0.61500	0.459000	0.35465	AAG		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				12	26	0	0	0	0.00278	0	12	26		
OTOP2	92736	broad.mit.edu	37	17	72929508	72929508	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:72929508C>T	ENST00000580223.1	+	6	1587	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	OTOP3_ENST00000328801.4_5'Flank|OTOP2_ENST00000331427.4_Silent_p.F519F			Q7RTS6	OTOP2_HUMAN	otopetrin 2	519						integral component of membrane (GO:0016021)		p.F519F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCCTCATTTCAGCAACACAG	0.572																																						uc010wrp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(1555-1557)TTC>TTT		otopetrin 2							139.0	110.0	120.0					17																	72929508		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72929508C>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1557C>T	17.37:g.72929508C>T						OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank	p.F519F	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			8	1646	+	all_lung(278;0.172)|Lung NSC(278;0.207)		519						Silent	SNP	ENST00000580223.1	37	c.1557C>T	CCDS11708.1																																																																																				0.572	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1		NM_178160		20	77	0	0	0	0.00333	0	20	77		
ICT1	3396	broad.mit.edu	37	17	73017052	73017052	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:73017052G>A	ENST00000301585.5	+	6	586	c.573G>A	c.(571-573)aaG>aaA	p.K191K		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	191					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)	p.K191K(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					TGAGACAAAAGAGAATTCATT	0.498																																						uc002jmm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(571-573)AAG>AAA		immature colon carcinoma transcript 1 precursor							87.0	86.0	87.0					17																	73017052		2203	4300	6503	SO:0001819	synonymous_variant	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73017052G>A	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.573G>A	17.37:g.73017052G>A							p.K191K	NM_001545	NP_001536	Q14197	ICT1_HUMAN			6	575	+	all_lung(278;0.226)		191					B2RAD1|Q53HM7|Q53Y11	Silent	SNP	ENST00000301585.5	37	c.573G>A	CCDS11711.1																																																																																				0.498	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1		NM_001545		30	64	0	0	0	0.008361	0	30	64		
UNC13D	201294	broad.mit.edu	37	17	73839336	73839336	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:73839336G>C	ENST00000207549.4	-	3	544	c.165C>G	c.(163-165)ctC>ctG	p.L55L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.L55L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	55					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.L55L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCCTCGTAGAGCAGGGCCC	0.642									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(163-165)CTC>CTG		unc-13 homolog D							49.0	48.0	48.0					17																	73839336		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73839336G>C	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.165C>G	17.37:g.73839336G>C						UNC13D_uc010wsk.1_Silent_p.L55L|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	p.L55L	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		3	545	-			55					B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.165C>G	CCDS11730.1																																																																																				0.642	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950		5	22	0	0	0	0.001168	0	5	22		
UBE2O	63893	broad.mit.edu	37	17	74387282	74387282	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr17:74387282G>A	ENST00000319380.7	-	18	3685	c.3621C>T	c.(3619-3621)ggC>ggT	p.G1207G		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1207			G -> S (in dbSNP:rs3803739). {ECO:0000269|PubMed:11214970, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.		positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.S1207S(1)|p.G1207G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTGAGGCCAGGCCCTGGGCAC	0.632																																						uc002jrm.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(2)|skin(2)|lung(1)	5						c.(3619-3621)GGC>GGT		ubiquitin-conjugating enzyme E2O							80.0	78.0	78.0					17																	74387282		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387282G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3621C>T	17.37:g.74387282G>A						UBE2O_uc002jrl.3_Silent_p.G811G	p.G1207G	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			18	3686	-			1207					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3621C>T	CCDS32742.1																																																																																				0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1		NM_022066		13	96	0	0	0	0.00245	0	13	96		
EPB41L3	23136	broad.mit.edu	37	18	5397338	5397338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:5397338C>T	ENST00000341928.2	-	18	2900	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	EPB41L3_ENST00000540638.2_Missense_Mutation_p.E632K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E685K|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E159K|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E151K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E632K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E854K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	854	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E854K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACACGGTCTCCTGCACCACC	0.602																																						uc002kmt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)	5						c.(2560-2562)GAG>AAG		erythrocyte membrane protein band 4.1-like 3							55.0	56.0	55.0					18																	5397338		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397338C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2560G>A	18.37:g.5397338C>T	ENSP00000343158:p.Glu854Lys					EPB41L3_uc010wzh.1_Missense_Mutation_p.E685K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E632K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E523K|EPB41L3_uc002kms.1_Missense_Mutation_p.E89K|EPB41L3_uc010wze.1_Missense_Mutation_p.E159K|EPB41L3_uc010wzf.1_Missense_Mutation_p.E151K|EPB41L3_uc010wzg.1_Missense_Mutation_p.E126K|EPB41L3_uc010dkr.2_Missense_Mutation_p.E246K	p.E854K	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2646	-			854			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2560G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047003	0.36085	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.73	4.82	0.62117	.	0.426506	0.27155	N	0.020671	T	0.66426	0.2788	M	0.62723	1.935	0.43924	D	0.996575	B;D;D;P;B;B;B;P	0.71674	0.353;0.998;0.998;0.63;0.191;0.052;0.194;0.583	B;D;D;B;B;B;B;B	0.85130	0.214;0.991;0.997;0.354;0.049;0.075;0.066;0.08	T	0.62849	-0.6767	10	0.34782	T	0.22	.	18.3785	0.90442	0.0:0.8719:0.1281:0.0	.	685;151;159;246;523;632;854;89	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	K	854;523;685;523;151;159;854;632	ENSP00000343158:E854K;ENSP00000441174:E685K;ENSP00000392195:E151K;ENSP00000442233:E159K;ENSP00000341138:E854K;ENSP00000382981:E632K	ENSP00000343158:E854K	E	-	1	0	EPB41L3	5387338	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	2.782000	0.47758	2.698000	0.92095	0.591000	0.81541	GAG		0.602	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307		8	40	0	0	0	0.00308	0	8	40		
KATNAL2	83473	broad.mit.edu	37	18	44626625	44626625	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:44626625G>A	ENST00000245121.5	+	14	1353	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	KATNAL2_ENST00000356157.7_Splice_Site_p.E459K	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.E387K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCTGTTTCAGGAGACTGAGGG	0.507											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lco.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(1159-1161)GAG>AAG		katanin p60 subunit A-like 2							84.0	72.0	76.0					18																	44626625		2203	4300	6503	SO:0001630	splice_region_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44626625G>A	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1159-1G>A	18.37:g.44626625G>A			OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	KATNAL2_uc002lcp.3_Missense_Mutation_p.E314K	p.E387K	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			14	1353	+			459						Missense_Mutation	SNP	ENST00000245121.5	37	c.1159G>A	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064889	0.36470	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.97811	-4.55;-4.55	5.7	5.7	0.88788	.	0.160321	0.53938	D	0.000050	D	0.94611	0.8263	N	0.21545	0.675	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.91099	0.4913	9	.	.	.	.	19.8211	0.96595	0.0:0.0:1.0:0.0	.	459	Q8IYT4	KATL2_HUMAN	K	459;387	ENSP00000348478:E459K;ENSP00000245121:E387K	.	E	+	1	0	KATNAL2	42880623	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.313000	0.78978	2.686000	0.91538	0.491000	0.48974	GAG		0.507	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2		NM_031303	Missense_Mutation	23	35	0	0	0	0.003954	0	23	35		
MYO5B	4645	broad.mit.edu	37	18	47428979	47428980	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:47428979_47428980CC>AA	ENST00000285039.7	-	21	3094_3095	c.2795_2796GG>TT	c.(2794-2796)cGG>cTT	p.R932L	MYO5B_ENST00000324581.6_Missense_Mutation_p.R73L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	932					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.R932R(1)|p.R932L(1)|p.R932>?(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATCGATCTTCCGCTGCAGCTG	0.594																																						uc002leb.2		NaN																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)		urinary_tract(3)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2794-2796)CGG>CTT		myosin VB																																				SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47428979_47428980CC>AA	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2795_2796delinsAA	18.37:g.47428979_47428980delinsAA	ENSP00000285039:p.Arg932Leu					MYO5B_uc002lea.2_Missense_Mutation_p.R73L	p.R932L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	21	3083_3084	-			932			Potential.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	DNP	ENST00000285039.7	37	c.2795_2796GG>TT	CCDS42436.1																																																																																				0.594	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				27	53	0	0	0	0.004672	0	27	53		
DCC	1630	broad.mit.edu	37	18	50977029	50977029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:50977029G>C	ENST00000442544.2	+	23	4005	c.3389G>C	c.(3388-3390)aGa>aCa	p.R1130T	DCC_ENST00000581580.1_Missense_Mutation_p.R765T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1130					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R1130T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCCAGCAGAGAAAGTAGGTA	0.473																																						uc002lfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3388-3390)AGA>ACA		netrin receptor DCC precursor							85.0	74.0	77.0					18																	50977029		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50977029G>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3389G>C	18.37:g.50977029G>C	ENSP00000389140:p.Arg1130Thr					DCC_uc010dpf.1_Missense_Mutation_p.R765T	p.R1130T	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	23	3976	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1130			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3389G>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751044	0.49257	.	.	ENSG00000187323	ENST00000442544	T	0.53206	0.63	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.44542	1.39	0.58432	D	0.999999	D	0.55605	0.972	P	0.57911	0.829	T	0.47355	-0.9124	10	0.27082	T	0.32	-11.9906	18.5478	0.91053	0.0:0.0:1.0:0.0	.	1130	P43146	DCC_HUMAN	T	1130	ENSP00000389140:R1130T	ENSP00000389140:R1130T	R	+	2	0	DCC	49231027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.684000	0.91462	0.650000	0.86243	AGA		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		5	32	0	0	0	0.001168	0	5	32		
MBD2	8932	broad.mit.edu	37	18	51731413	51731413	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:51731413C>T	ENST00000256429.3	-	2	885	c.657G>A	c.(655-657)caG>caA	p.Q219Q	MBD2_ENST00000398398.2_Silent_p.Q219Q|MBD2_ENST00000583046.1_Silent_p.Q219Q	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	219					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)	p.Q219Q(1)		breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		GTTTGTTCTTCTGTAATTTAC	0.388																																						uc002lfg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(655-657)CAG>CAA		methyl-CpG binding domain protein 2 isoform 1	Hexobarbital(DB01355)						276.0	258.0	264.0					18																	51731413		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51731413C>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.657G>A	18.37:g.51731413C>T						MBD2_uc002lfh.1_Silent_p.Q219Q	p.Q219Q	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	2	886	-			219					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.657G>A	CCDS11953.1																																																																																				0.388	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2		NM_003927		74	148	0	0	0	0.01441	0	74	148		
CD226	10666	broad.mit.edu	37	18	67562996	67562996	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:67562996T>C	ENST00000280200.4	-	4	936	c.668A>G	c.(667-669)tAc>tGc	p.Y223C	CD226_ENST00000582621.1_Missense_Mutation_p.Y223C|CD226_ENST00000577287.1_Missense_Mutation_p.Y68C|CD226_ENST00000581982.1_Missense_Mutation_p.Y68C	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	223	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.Y223C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GGCCTGCAAGTAGCAGCGGTA	0.522																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(667-669)TAC>TGC		CD226 molecule precursor							137.0	135.0	136.0					18																	67562996		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67562996T>C	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.668A>G	18.37:g.67562996T>C	ENSP00000280200:p.Tyr223Cys					CD226_uc002lkm.3_Missense_Mutation_p.Y223C	p.Y223C	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	1115	-		Esophageal squamous(42;0.129)	223			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.668A>G	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	T	8.912	0.959040	0.18507	.	.	ENSG00000150637	ENST00000280200	T	0.12984	2.63	4.82	-0.709	0.11237	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.433370	0.03787	N	0.262301	T	0.03783	0.0107	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28586	-1.0039	10	0.38643	T	0.18	.	1.7425	0.02955	0.154:0.3665:0.3004:0.1791	.	223	Q15762	CD226_HUMAN	C	223	ENSP00000280200:Y223C	ENSP00000280200:Y223C	Y	-	2	0	CD226	65713976	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.220000	0.02971	-0.206000	0.10203	-0.182000	0.12963	TAC		0.522	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3		NM_006566		24	141	0	0	0	0.00333	0	24	141		
RTTN	25914	broad.mit.edu	37	18	67871418	67871418	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:67871418G>C	ENST00000255674.6	-	3	587	c.301C>G	c.(301-303)Ctg>Gtg	p.L101V	RTTN_ENST00000454359.1_Missense_Mutation_p.L101V|RTTN_ENST00000437017.1_Missense_Mutation_p.L101V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	101					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L101V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCAGCCTGCAGATTTGGCTCC	0.433																																						uc002lkp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(301-303)CTG>GTG		rotatin							114.0	111.0	112.0					18																	67871418		1894	4126	6020	SO:0001583	missense	25914						binding	g.chr18:67871418G>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.301C>G	18.37:g.67871418G>C	ENSP00000255674:p.Leu101Val					RTTN_uc010xfb.1_Translation_Start_Site|RTTN_uc002lkq.1_Missense_Mutation_p.L101V	p.L101V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			3	369	-		Esophageal squamous(42;0.129)	101					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.301C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226581	0.22542	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.78126	1.66;-1.15;1.66	5.54	3.35	0.38373	Armadillo-type fold (2);	0.104089	0.39083	N	0.001461	T	0.80502	0.4635	M	0.65498	2.005	0.32292	N	0.566134	P;D	0.56746	0.897;0.977	B;P	0.53549	0.292;0.729	D	0.83846	0.0260	10	0.66056	D	0.02	.	9.2214	0.37379	0.1166:0.0:0.7315:0.1519	.	101;101	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	V	101	ENSP00000255674:L101V;ENSP00000402352:L101V;ENSP00000399520:L101V	ENSP00000255674:L101V	L	-	1	2	RTTN	66022398	1.000000	0.71417	0.142000	0.22268	0.798000	0.45092	3.691000	0.54720	1.278000	0.44430	0.650000	0.86243	CTG		0.433	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630		19	134	0	0	0	0.007413	0	19	134		
CTDP1	9150	broad.mit.edu	37	18	77474710	77474710	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr18:77474710A>C	ENST00000299543.7	+	8	1397	c.1250A>C	c.(1249-1251)cAa>cCa	p.Q417P	CTDP1_ENST00000075430.7_Missense_Mutation_p.Q417P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	417					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.Q417P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACCAGCAGCCAAGAGCTGGCA	0.746																																						uc002lnh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1249-1251)CAA>CCA		CTD (carboxy-terminal domain, RNA polymerase II,							7.0	10.0	9.0					18																	77474710		2143	4207	6350	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77474710A>C	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1250A>C	18.37:g.77474710A>C	ENSP00000299543:p.Gln417Pro					CTDP1_uc002lni.1_Missense_Mutation_p.Q417P|CTDP1_uc010drd.1_Missense_Mutation_p.Q417P	p.Q417P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	8	1397	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	417					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.1250A>C	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	4.733	0.136328	0.09032	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.10005	2.93;2.92	3.14	-3.3	0.05003	.	3.839660	0.01637	N	0.023840	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B;B;B	0.23735	0.0;0.09;0.0	B;B;B	0.25140	0.0;0.058;0.0	T	0.31530	-0.9940	10	0.36615	T	0.2	.	6.3829	0.21544	0.6033:0.0:0.2684:0.1283	.	298;417;417	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	P	417	ENSP00000299543:Q417P;ENSP00000075430:Q417P	ENSP00000075430:Q417P	Q	+	2	0	CTDP1	75575698	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.128000	0.15810	-1.390000	0.02087	-2.112000	0.00353	CAA		0.746	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1		NM_004715		7	4	0	0	0	0.001984	0	7	4		
ZNF555	148254	broad.mit.edu	37	19	2853251	2853251	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:2853251T>A	ENST00000334241.4	+	4	1326	c.1188T>A	c.(1186-1188)taT>taA	p.Y396*	ZNF555_ENST00000591539.1_Nonsense_Mutation_p.Y395*|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y396*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACCCTATGAATGCAACC	0.498																																						uc002lwo.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1186-1188)TAT>TAA		zinc finger protein 555							75.0	63.0	67.0					19																	2853251		2203	4300	6503	SO:0001587	stop_gained	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853251T>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1188T>A	19.37:g.2853251T>A	ENSP00000334853:p.Tyr396*					ZNF555_uc002lwn.3_Nonsense_Mutation_p.Y395*	p.Y396*	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1277	+			396			C2H2-type 9.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Nonsense_Mutation	SNP	ENST00000334241.4	37	c.1188T>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	T	37	6.423190	0.97555	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	.	.	.	3.22	3.22	0.36961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7535	0.40490	0.0:0.0:0.0:1.0	.	.	.	.	X	396;395	.	ENSP00000334853:Y396X	Y	+	3	2	ZNF555	2804251	0.000000	0.05858	0.985000	0.45067	0.954000	0.61252	-2.286000	0.01152	1.467000	0.48044	0.459000	0.35465	TAT		0.498	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		10	64	0	0	0	0.006214	0	10	64		
TLE6	79816	broad.mit.edu	37	19	2987903	2987903	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:2987903G>A	ENST00000246112.4	+	10	834	c.633G>A	c.(631-633)agG>agA	p.R211R	TLE6_ENST00000452088.1_Silent_p.R88R|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	211					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R211R(1)|p.R88R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCCCCCAGGCCACCTGAGG	0.667																																						uc002lwu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(262-264)AGG>AGA		transducin-like enhancer of split 6 isoform 2							32.0	31.0	31.0					19																	2987903		2203	4300	6503	SO:0001819	synonymous_variant	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2987903G>A	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.633G>A	19.37:g.2987903G>A						TLE6_uc002lwt.2_Silent_p.R211R|TLE6_uc010dtg.2_Silent_p.R211R|TLE6_uc002lwv.2_5'UTR	p.R88R	NM_024760	NP_079036	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	664	+			88					J3KMZ1	Silent	SNP	ENST00000246112.4	37	c.264G>A	CCDS45910.1																																																																																				0.667	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3		NM_024760		13	18	0	0	0	0.00245	0	13	18		
GNA15	2769	broad.mit.edu	37	19	3157790	3157790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3157790C>T	ENST00000262958.3	+	6	1067	c.809C>T	c.(808-810)aCa>aTa	p.T270I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	270					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T270I(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TTCAAAAGCACATCCGTCATC	0.507																																						uc002lxf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(808-810)ACA>ATA		guanine nucleotide binding protein (G protein),							268.0	230.0	243.0					19																	3157790		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3157790C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.809C>T	19.37:g.3157790C>T	ENSP00000262958:p.Thr270Ile						p.T270I	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	6	1067	+		Hepatocellular(1079;0.137)	270					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.809C>T	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727747	0.48833	.	.	ENSG00000060558	ENST00000262958	D	0.90324	-2.65	4.62	4.62	0.57501	.	0.064020	0.64402	D	0.000014	D	0.91771	0.7397	L	0.47190	1.495	0.49130	D	0.999753	P	0.37370	0.592	P	0.50896	0.653	D	0.92629	0.6114	10	0.72032	D	0.01	.	15.0612	0.71955	0.0:1.0:0.0:0.0	.	270	P30679	GNA15_HUMAN	I	270	ENSP00000262958:T270I	ENSP00000262958:T270I	T	+	2	0	GNA15	3108790	0.879000	0.30193	0.257000	0.24404	0.059000	0.15707	5.751000	0.68720	2.156000	0.67533	0.544000	0.68410	ACA		0.507	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2		NM_002068		36	213	0	0	0	0.004289	0	36	213		
MFSD12	126321	broad.mit.edu	37	19	3551099	3551099	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3551099T>C	ENST00000355415.2	-	2	561	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.Y131C|MFSD12_ENST00000398558.4_Missense_Mutation_p.Y131C	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	131					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.Y131C(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GAACGGGCCGTAGTAGAGGAG	0.637																																						uc002lxz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)|pancreas(1)	2						c.(391-393)TAC>TGC		hypothetical protein LOC126321 isoform c							31.0	37.0	35.0					19																	3551099		2062	4187	6249	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3551099T>C	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.392A>G	19.37:g.3551099T>C	ENSP00000347583:p.Tyr131Cys					C19orf28_uc002lxw.2_Missense_Mutation_p.Y131C|C19orf28_uc002lxx.2_Missense_Mutation_p.Y131C|C19orf28_uc002lxy.2_Missense_Mutation_p.Y122C	p.Y131C	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	2	562	-		Hepatocellular(1079;0.137)	131			Helical; (Potential).		A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.392A>G	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486217	0.44147	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.81163	-1.46;-1.46;-1.46	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.054239	0.64402	D	0.000001	D	0.89164	0.6637	M	0.85945	2.785	0.47862	D	0.999538	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.975;0.992	D	0.90180	0.4242	10	0.87932	D	0	-18.861	9.516	0.39106	0.1573:0.0:0.0:0.8427	.	131;122;131	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	C	131	ENSP00000374046:Y131C;ENSP00000381566:Y131C;ENSP00000347583:Y131C	ENSP00000347583:Y131C	Y	-	2	0	C19orf28	3502099	1.000000	0.71417	0.896000	0.35187	0.131000	0.20780	3.899000	0.56288	1.937000	0.56155	0.379000	0.24179	TAC		0.637	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2		NM_174983		5	22	0	0	0	0.001168	0	5	22		
EEF2	1938	broad.mit.edu	37	19	3984133	3984133	+	Splice_Site	SNP	C	C	G	rs113603517		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:3984133C>G	ENST00000309311.6	-	2	307		c.e2+1		SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_Splice_Site	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)	p.?(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGAGCTCACGTTGACTTGA	0.657																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e2+1		eukaryotic translation elongation factor 2							85.0	77.0	80.0					19																	3984133		2203	4300	6503	SO:0001630	splice_region_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3984133C>G	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.218+1G>C	19.37:g.3984133C>G						SNORD37_uc002lzf.1_5'Flank	p.T73_splice	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	2	301	-		Hepatocellular(1079;0.137)						B2RMP5|D6W618|Q58J86	Splice_Site	SNP	ENST00000309311.6	37	c.218_splice	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102157	0.56183	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6968	0.88283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EEF2	3935133	1.000000	0.71417	0.997000	0.53966	0.317000	0.28152	7.599000	0.82757	2.419000	0.82065	0.655000	0.94253	.		0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2		NM_001961	Intron	17	39	0	0	0	0.006122	0	17	39		
ACSBG2	81616	broad.mit.edu	37	19	6177390	6177390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:6177390C>T	ENST00000586696.1	+	8	1165	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	ACSBG2_ENST00000588485.1_Nonsense_Mutation_p.Q110*|ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.Q297*|ACSBG2_ENST00000588304.1_Nonsense_Mutation_p.Q247*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.Q297*|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	297					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.Q297*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACTTTGCTCAAGCAGATGC	0.507																																						uc002mef.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(889-891)CAA>TAA		bubblegum-related acyl-CoA synthetase 2							59.0	49.0	53.0					19																	6177390		2203	4300	6503	SO:0001587	stop_gained	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6177390C>T		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.889C>T	19.37:g.6177390C>T	ENSP00000465589:p.Gln297*					ACSBG2_uc002mee.1_Nonsense_Mutation_p.Q110*|ACSBG2_uc002meg.1_Nonsense_Mutation_p.Q297*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.Q297*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.Q247*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.Q297*	p.Q297*	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN			8	1116	+			297					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Nonsense_Mutation	SNP	ENST00000586696.1	37	c.889C>T	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936019	0.97122	.	.	ENSG00000130377	ENST00000252669	.	.	.	4.48	2.28	0.28536	.	0.490245	0.15230	N	0.273478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.1796	13.2368	0.59974	0.0:0.6942:0.3058:0.0	.	.	.	.	X	297	.	ENSP00000252669:Q297X	Q	+	1	0	ACSBG2	6128390	1.000000	0.71417	0.887000	0.34795	0.477000	0.33069	2.816000	0.48026	0.493000	0.27837	0.650000	0.86243	CAA		0.507	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1		NM_030924		20	34	0	0	0	0.007413	0	20	34		
ZNF557	79230	broad.mit.edu	37	19	7083113	7083113	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:7083113C>T	ENST00000439035.2	+	8	870	c.630C>T	c.(628-630)ttC>ttT	p.F210F	ZNF557_ENST00000414706.1_Silent_p.F217F|ZNF557_ENST00000252840.6_Silent_p.F217F			Q8N988	ZN557_HUMAN	zinc finger protein 557	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F217F(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GGAAAACCTTCAGCAGCAGAT	0.438																																						uc002mgb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(628-630)TTC>TTT		zinc finger protein 557 isoform b							67.0	76.0	73.0					19																	7083113		2195	4300	6495	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083113C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.630C>T	19.37:g.7083113C>T						ZNF557_uc002mga.2_Silent_p.F217F|ZNF557_uc002mgc.2_Silent_p.F217F	p.F210F	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1115	+			210			C2H2-type 3.		Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.630C>T	CCDS45945.1																																																																																				0.438	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1		NM_024341		32	52	0	0	0	0.008361	0	32	52		
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:7684884C>T	ENST00000358368.4	-	17	2381	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	XAB2_ENST00000534844.1_Missense_Mutation_p.E779K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E779K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCTCCGCCTCAGCCGCCAGC	0.667								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(2344-2346)GAG>AAG	Direct_reversal_of_damage|NER	XPA binding protein 2							30.0	30.0	30.0					19																	7684884		2203	4295	6498	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7684884C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2344G>A	19.37:g.7684884C>T	ENSP00000351137:p.Glu782Lys						p.E782K	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			17	2370	-			782					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2344G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691646	0.15039	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.22945	1.93;1.93	4.67	3.6	0.41247	.	0.064548	0.64402	D	0.000012	T	0.27866	0.0686	M	0.74881	2.28	0.80722	D	1	P	0.50617	0.937	B	0.42851	0.4	T	0.25779	-1.0122	10	0.07482	T	0.82	-23.7322	13.5218	0.61572	0.0:0.8417:0.1583:0.0	.	782	Q9HCS7	SYF1_HUMAN	K	782;779	ENSP00000351137:E782K;ENSP00000438225:E779K	ENSP00000351137:E782K	E	-	1	0	XAB2	7590884	1.000000	0.71417	0.211000	0.23655	0.005000	0.04900	7.036000	0.76524	0.925000	0.37094	0.305000	0.20034	GAG		0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1		NM_020196		4	16	0	0	0	0.000602	0	4	16		
FBN3	84467	broad.mit.edu	37	19	8136970	8136970	+	Silent	SNP	G	G	T	rs200333959		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:8136970G>T	ENST00000600128.1	-	63	8464	c.8050C>A	c.(8050-8052)Cgg>Agg	p.R2684R	FBN3_ENST00000270509.2_Silent_p.R2684R|FBN3_ENST00000601739.1_Silent_p.R2684R			Q75N90	FBN3_HUMAN	fibrillin 3	2684						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R2684R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCGGTCCCGAGGGGAGAGG	0.647																																						uc002mjf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8050-8052)CGG>AGG		fibrillin 3 precursor							131.0	119.0	123.0					19																	8136970		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8136970G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8050C>A	19.37:g.8136970G>T						FBN3_uc002mje.2_Silent_p.R480R	p.R2684R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			62	8071	-			2684					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8050C>A	CCDS12196.1																																																																																				0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447		37	142	1	0	2.2871e-25	0.007835	2.41309e-25	37	142		
MUC16	94025	broad.mit.edu	37	19	9071731	9071731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:9071731C>T	ENST00000397910.4	-	3	15918	c.15715G>A	c.(15715-15717)Gat>Aat	p.D5239N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5241	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.D5239N(2)|p.D872N(1)		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						GTGGACTTATCATGGTCTGGG	0.478																																						uc002mkp.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15715-15717)GAT>AAT		mucin 16							171.0	168.0	169.0					19																	9071731		2004	4172	6176	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071731C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15715G>A	19.37:g.9071731C>T	ENSP00000381008:p.Asp5239Asn						p.D5239N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15919	-			5241			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15715G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.118	-0.402207	0.04865	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.94	-3.88	0.04205	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	.	.	.	B	0.31968	0.349	B	0.22753	0.041	T	0.37641	-0.9697	8	0.87932	D	0	.	0.9016	0.01275	0.1474:0.2134:0.291:0.3483	.	5239	B5ME49	.	N	5239	ENSP00000381008:D5239N	ENSP00000381008:D5239N	D	-	1	0	MUC16	8932731	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.923000	0.00692	-2.425000	0.00561	-0.535000	0.04281	GAT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		29	156	0	0	0	0.009535	0	29	156		
MUC16	94025	broad.mit.edu	37	19	9077704	9077704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:9077704G>A	ENST00000397910.4	-	3	9945	c.9742C>T	c.(9742-9744)Cag>Tag	p.Q3248*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3249	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.Q3248*(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						GCTGTGGACTGAAGGGTGACT	0.517																																						uc002mkp.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9742-9744)CAG>TAG		mucin 16							146.0	147.0	147.0					19																	9077704		2107	4215	6322	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077704G>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.9742C>T	19.37:g.9077704G>A	ENSP00000381008:p.Gln3248*						p.Q3248*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	9946	-			3249			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.9742C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	52	18.760693	0.99910	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.7293	0.28777	0.0:0.0:1.0:0.0	.	.	.	.	X	3248	.	ENSP00000381008:Q3248X	Q	-	1	0	MUC16	8938704	0.149000	0.22717	0.621000	0.29145	0.306000	0.27790	1.141000	0.31528	1.454000	0.47793	0.313000	0.20887	CAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		23	166	0	0	0	0.00333	0	23	166		
KEAP1	9817	broad.mit.edu	37	19	10610637	10610637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10610637C>T	ENST00000171111.5	-	2	620	c.73G>A	c.(73-75)Gag>Aag	p.E25K	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.E25K	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	25					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.E25K(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCTGCCCCCTCAGGGCACTGT	0.652																																						uc002moq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(73-75)GAG>AAG		kelch-like ECH-associated protein 1							56.0	49.0	51.0					19																	10610637		2202	4300	6502	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610637C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.73G>A	19.37:g.10610637C>T	ENSP00000171111:p.Glu25Lys					KEAP1_uc002mor.1_Missense_Mutation_p.E25K	p.E25K	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	229	-			25					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.73G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	9.447	1.089464	0.20390	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70399	-0.48;-0.48	4.9	-4.17	0.03857	.	0.636451	0.13838	N	0.359266	T	0.44138	0.1279	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39143	-0.9628	10	0.08599	T	0.76	.	10.5989	0.45354	0.0:0.4341:0.0:0.5659	.	25	Q14145	KEAP1_HUMAN	K	25	ENSP00000171111:E25K;ENSP00000377245:E25K	ENSP00000171111:E25K	E	-	1	0	KEAP1	10471637	0.000000	0.05858	0.044000	0.18714	0.041000	0.13682	-0.052000	0.11865	-0.708000	0.05015	-0.379000	0.06801	GAG		0.652	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		19	73	0	0	0	0.007413	0	19	73		
ZNF700	90592	broad.mit.edu	37	19	12060204	12060204	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:12060204C>T	ENST00000254321.5	+	4	1508	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Silent_p.F437F|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F455F(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GGAAAGCCTTCAGATCTACCT	0.488																																						uc002msu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1363-1365)TTC>TTT		zinc finger protein 700							87.0	82.0	83.0					19																	12060204		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060204C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1365C>T	19.37:g.12060204C>T						ZNF700_uc010xme.1_Silent_p.F473F|ZNF763_uc010xmf.1_Intron	p.F455F	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1491	+			455			C2H2-type 9.		B9EGU4	Silent	SNP	ENST00000254321.5	37	c.1365C>T	CCDS32915.1																																																																																				0.488	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2		NM_144566		23	94	0	0	0	0.012319	0	23	94		
BRD4	23476	broad.mit.edu	37	19	15367816	15367816	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:15367816C>T	ENST00000263377.2	-	8	1731	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	BRD4_ENST00000371835.4_Missense_Mutation_p.E504K|BRD4_ENST00000360016.5_Missense_Mutation_p.E504K|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	504					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.E504K(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGCTCCTCCTCAGAGTCATCA	0.647			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NaN		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1510-1512)GAG>AAG		bromodomain-containing protein 4 isoform long							25.0	18.0	21.0					19																	15367816		2203	4298	6501	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15367816C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1510G>A	19.37:g.15367816C>T	ENSP00000263377:p.Glu504Lys					BRD4_uc002nas.2_Missense_Mutation_p.E504K|BRD4_uc002nat.3_Missense_Mutation_p.E504K|BRD4_uc002nau.3_Missense_Mutation_p.E504K	p.E504K	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		8	1732	-			504					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1510G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525415	0.96431	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.18960	2.32;2.18;2.18	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000008	T	0.53190	0.1781	M	0.86953	2.85	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.993	D;D;D	0.75020	0.985;0.937;0.978	T	0.59910	-0.7365	10	0.59425	D	0.04	-31.6014	17.898	0.88895	0.0:1.0:0.0:0.0	.	504;504;504	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	K	504	ENSP00000263377:E504K;ENSP00000360901:E504K;ENSP00000353112:E504K	ENSP00000263377:E504K	E	-	1	0	BRD4	15228816	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAG		0.647	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243		3	3	0	0	0	0.009096	0	3	3		
C19orf44	84167	broad.mit.edu	37	19	16633881	16633881	+	IGR	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16633881C>T	ENST00000221671.3	+	0	3427				CHERP_ENST00000198939.6_Silent_p.L665L|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Silent_p.L654L|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.L654L(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGGGGGCCATCAGCCCAGCAG	0.617																																						uc002nei.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1960-1962)CTG>CTA		calcium homeostasis endoplasmic reticulum							44.0	51.0	49.0					19																	16633881		2016	4169	6185	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16633881C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16633881C>T						MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Silent_p.L193L	p.L654L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			11	2036	-			654			Pro-rich.		Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.1962G>A	CCDS12345.1																																																																																				0.617	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207		13	64	0	0	0	0.013537	0	13	64		
C19orf44	84167	broad.mit.edu	37	19	16634026	16634026	+	IGR	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16634026C>G	ENST00000221671.3	+	0	3427				CHERP_ENST00000198939.6_Missense_Mutation_p.G617A|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.G606A|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.G606A(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GTGCTGGGGTCCAGCCCAAGG	0.662																																						uc002nei.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1816-1818)GGA>GCA		calcium homeostasis endoplasmic reticulum							47.0	60.0	55.0					19																	16634026		2145	4247	6392	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16634026C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634026C>G						MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.G145A	p.G606A	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			11	1891	-			606			Pro-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1817G>C	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333215	0.60853	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.24723	1.84;1.84	5.09	5.09	0.68999	.	.	.	.	.	T	0.47893	0.1470	L	0.59436	1.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.79108	0.992	T	0.34625	-0.9821	9	0.39692	T	0.17	-24.0423	17.4823	0.87675	0.0:1.0:0.0:0.0	.	606	Q8IWX8	CHERP_HUMAN	A	606;617	ENSP00000439856:G606A;ENSP00000198939:G617A	ENSP00000198939:G617A	G	-	2	0	CHERP	16495026	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	4.279000	0.58953	2.377000	0.81083	0.561000	0.74099	GGA		0.662	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207		14	82	0	0	0	0.004007	0	14	82		
CHERP	10523	broad.mit.edu	37	19	16640540	16640540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:16640540C>T	ENST00000198939.6	-	8	1117	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.E350K					calcium homeostasis endoplasmic reticulum protein									p.E350K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GCCTTGACTTCAGCCTCCATC	0.682																																						uc002nei.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1048-1050)GAA>AAA		calcium homeostasis endoplasmic reticulum							23.0	30.0	28.0					19																	16640540		2197	4285	6482	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640540C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1081G>A	19.37:g.16640540C>T	ENSP00000198939:p.Glu361Lys					MED26_uc002nee.2_Intron	p.E350K	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			8	1122	-			350						Missense_Mutation	SNP	ENST00000198939.6	37	c.1048G>A		.	.	.	.	.	.	.	.	.	.	C	10.48	1.361164	0.24684	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.84589	-1.87;-1.87	4.17	4.17	0.49024	.	.	.	.	.	D	0.83188	0.5200	N	0.24115	0.695	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.70212	-0.4934	9	0.07813	T	0.8	-3.6842	9.6642	0.39974	0.0:0.9034:0.0:0.0966	.	350	Q8IWX8	CHERP_HUMAN	K	350;361	ENSP00000439856:E350K;ENSP00000198939:E361K	ENSP00000198939:E361K	E	-	1	0	CHERP	16501540	0.980000	0.34600	0.027000	0.17364	0.105000	0.19272	3.183000	0.50918	2.059000	0.61396	0.561000	0.74099	GAA		0.682	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1		NM_006387		6	4	0	0	0	0.00308	0	6	4		
MYO9B	4650	broad.mit.edu	37	19	17213295	17213295	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17213295C>G	ENST00000594824.1	+	2	915	c.768C>G	c.(766-768)ctC>ctG	p.L256L	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000397274.2_Silent_p.L256L|MYO9B_ENST00000595618.1_Silent_p.L256L			Q13459	MYO9B_HUMAN	myosin IXB	256	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L256L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCCACTGCCTCACCGCCCTCA	0.642																																						uc010eak.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)	1						c.(766-768)CTC>CTG		myosin IXB isoform 1							25.0	27.0	26.0					19																	17213295		2123	4235	6358	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17213295C>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.768C>G	19.37:g.17213295C>G						MYO9B_uc002nfi.2_Silent_p.L256L|MYO9B_uc002nfj.1_Silent_p.L256L	p.L256L	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			2	920	+			256			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.768C>G																																																																																					0.642	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				8	20	0	0	0	0.004482	0	8	20		
ABHD8	79575	broad.mit.edu	37	19	17405304	17405304	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17405304G>A	ENST00000247706.3	-	4	1181	c.942C>T	c.(940-942)ttC>ttT	p.F314F	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	314							hydrolase activity (GO:0016787)	p.F314F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTTGGCGGGCGAAGCCGGCCC	0.647																																					Ovarian(156;1368 2543 15275 41187)	uc002ngb.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(940-942)TTC>TTT		abhydrolase domain containing 8							88.0	76.0	80.0					19																	17405304		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405304G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.942C>T	19.37:g.17405304G>A							p.F314F	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			4	1182	-			314					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.942C>T	CCDS12355.1																																																																																				0.647	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1		NM_024527		12	94	0	0	0	0.001855	0	12	94		
ANO8	57719	broad.mit.edu	37	19	17440786	17440786	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:17440786G>A	ENST00000159087.4	-	11	1469	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	437	Leu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L437L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTTTGATGATGAGGTGCTTCT	0.622																																						uc002ngf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1309-1311)CTC>CTT		anoctamin 8							71.0	72.0	72.0					19																	17440786		2203	4300	6503	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17440786G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1311C>T	19.37:g.17440786G>A						ANO8_uc010eap.2_RNA	p.L437L	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			11	1470	-			437			Extracellular (Potential).|Leu-rich.		A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.1311C>T	CCDS32949.1																																																																																				0.622	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1		XM_050644		15	88	0	0	0	0.003163	0	15	88		
PDE4C	5143	broad.mit.edu	37	19	18321950	18321950	+	Nonsense_Mutation	SNP	G	G	C	rs373558260		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:18321950G>C	ENST00000355502.3	-	19	2799	c.1928C>G	c.(1927-1929)tCa>tGa	p.S643*	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Nonsense_Mutation_p.S643*|PDE4C_ENST00000539010.1_Nonsense_Mutation_p.S412*|PDE4C_ENST00000597297.1_Nonsense_Mutation_p.S413*|PDE4C_ENST00000594617.3_Nonsense_Mutation_p.S643*|PDE4C_ENST00000447275.3_Nonsense_Mutation_p.S537*|PDE4C_ENST00000598111.2_Nonsense_Mutation_p.S358*|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000262805.12_Nonsense_Mutation_p.S611*			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	643					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.S643*(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGTGAGGTCTGAGGGACTTCG	0.597																																						uc010xqc.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1927-1929)TCA>TGA		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)	G	stop/SER,stop/SER,stop/SER	1,4405	2.1+/-5.4	0,1,2202	147.0	121.0	130.0		1928,1832,1610	-6.1	0.0	19		130	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	PDE4C	NM_000923.4,NM_001098818.2,NM_001098819.2	,,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,,	643/713,611/681,537/607	18321950	1,13005	2203	4300	6503	SO:0001587	stop_gained	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18321950G>C		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1928C>G	19.37:g.18321950G>C	ENSP00000347689:p.Ser643*					PDE4C_uc002nik.3_Nonsense_Mutation_p.S643*|PDE4C_uc002nil.3_Nonsense_Mutation_p.S643*|PDE4C_uc002nif.3_Nonsense_Mutation_p.S412*|PDE4C_uc002nig.3_Nonsense_Mutation_p.S358*|PDE4C_uc002nih.3_Nonsense_Mutation_p.S413*|PDE4C_uc010ebk.2_Nonsense_Mutation_p.S537*|PDE4C_uc002nii.3_Nonsense_Mutation_p.S611*|PDE4C_uc010ebl.2_Nonsense_Mutation_p.S357*	p.S643*	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			15	2408	-			643					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Nonsense_Mutation	SNP	ENST00000355502.3	37	c.1928C>G	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943493	0.34283	2.27E-4	0.0	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	.	.	.	3.61	-6.12	0.02124	.	4.021450	0.00763	N	0.001140	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.8127	0.23812	0.1703:0.0:0.7114:0.1183	.	.	.	.	X	722;643;631;611;537;449;357;412;752	.	ENSP00000262805:S611X	S	-	2	0	PDE4C	18182950	0.025000	0.19082	0.000000	0.03702	0.009000	0.06853	1.722000	0.38042	-1.284000	0.02390	-0.258000	0.10820	TCA		0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1				12	127	0	0	0	0.001855	0	12	127		
UPF1	5976	broad.mit.edu	37	19	18963840	18963840	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:18963840G>A	ENST00000599848.1	+	7	1226	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	UPF1_ENST00000262803.5_Silent_p.K339K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	339	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K339K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCTTAACAAGAAGAGAATCG	0.453																																						uc002nkg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1015-1017)AAG>AAA		regulator of nonsense transcripts 1							127.0	111.0	116.0					19																	18963840		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18963840G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1017G>A	19.37:g.18963840G>A						UPF1_uc002nkf.2_Silent_p.K339K	p.K339K	NM_002911	NP_002902	Q92900	RENT1_HUMAN			7	1292	+			339			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.1017G>A																																																																																					0.453	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911		54	101	0	0	0	0.01441	0	54	101		
SUGP2	10147	broad.mit.edu	37	19	19135806	19135806	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19135806C>G	ENST00000601879.1	-	3	1648	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	SUGP2_ENST00000337018.6_Missense_Mutation_p.E451Q|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000452918.2_Missense_Mutation_p.E451Q|SUGP2_ENST00000600377.1_Missense_Mutation_p.E465Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.E220Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	451					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E451Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACACTTAGCTCGTAGGCATTG	0.473																																						uc002nkx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1351-1353)GAG>CAG		splicing factor, arginine/serine-rich 14							133.0	142.0	139.0					19																	19135806		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19135806C>G	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1351G>C	19.37:g.19135806C>G	ENSP00000472286:p.Glu451Gln					SFRS14_uc002nkz.1_Missense_Mutation_p.E465Q|SFRS14_uc002nla.1_Missense_Mutation_p.E451Q|SFRS14_uc002nlb.2_Missense_Mutation_p.E451Q|SFRS14_uc010xqk.1_Missense_Mutation_p.E220Q	p.E451Q	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		3	1497	-			451					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1351G>C	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948623	0.73787	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.26067	1.95;1.91;1.95;1.76	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000003	T	0.42720	0.1215	L	0.32530	0.975	0.43971	D	0.996655	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.995	T	0.35599	-0.9782	10	0.87932	D	0	-30.1506	17.9907	0.89168	0.0:1.0:0.0:0.0	.	220;451;451	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	Q	451;451;451;220	ENSP00000337926:E451Q;ENSP00000332373:E451Q;ENSP00000389380:E451Q;ENSP00000409603:E220Q	ENSP00000332373:E451Q	E	-	1	0	SUGP2	18996806	0.998000	0.40836	0.995000	0.50966	0.980000	0.70556	5.046000	0.64226	2.492000	0.84095	0.462000	0.41574	GAG		0.473	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1		NM_001017392		42	253	0	0	0	0.007835	0	42	253		
SUGP1	57794	broad.mit.edu	37	19	19431303	19431303	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19431303C>T	ENST00000247001.5	-	1	350	c.3G>A	c.(1-3)atG>atA	p.M1I	MAU2_ENST00000392313.6_5'Flank|SUGP1_ENST00000334782.5_Start_Codon_SNP_p.M1I|MAU2_ENST00000262815.8_5'Flank|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	1					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TCTTGAGACTCATCCAATCCC	0.612																																						uc002nmh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1-3)ATG>ATA		splicing factor 4							90.0	93.0	92.0					19																	19431303		2203	4300	6503	SO:0001582	initiator_codon_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19431303C>T	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.3G>A	19.37:g.19431303C>T	ENSP00000247001:p.Met1Ile					SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA|KIAA0892_uc002nmk.3_5'Flank	p.M1I	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			1	5	-			1					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.3G>A	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516196	0.85495	.	.	ENSG00000105705	ENST00000247001;ENST00000535070;ENST00000334782	T	0.21191	2.02	5.17	4.13	0.48395	.	0.418301	0.22106	N	0.064553	T	0.15565	0.0375	.	.	.	0.27203	N	0.96012	B	0.16396	0.017	B	0.09377	0.004	T	0.09015	-1.0694	9	0.87932	D	0	.	8.6419	0.33983	0.0:0.898:0.0:0.102	.	1	Q8IWZ8	SUGP1_HUMAN	I	1	ENSP00000247001:M1I	ENSP00000247001:M1I	M	-	3	0	SUGP1	19292303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.176000	0.42500	2.430000	0.82344	0.561000	0.74099	ATG		0.612	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4		NM_021164	Missense_Mutation	29	84	0	0	0	0.005443	0	29	84		
GATAD2A	54815	broad.mit.edu	37	19	19612021	19612021	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:19612021G>A	ENST00000360315.3	+	9	1608	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	GATAD2A_ENST00000252577.5_Silent_p.K432K|GATAD2A_ENST00000429563.2_Silent_p.K260K|GATAD2A_ENST00000358713.3_Silent_p.K432K|GATAD2A_ENST00000537887.1_Silent_p.K61K|GATAD2A_ENST00000404158.1_Silent_p.K433K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	432	CR2; histone tail-binding.			K -> E (in Ref. 5; BAA90939). {ECO:0000305}.	anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K432K(1)|p.K289K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGGAGGAGAAGAGCGGCGCCA	0.622																																						uc010xqt.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1294-1296)AAG>AAA		GATA zinc finger domain containing 2A							48.0	40.0	43.0					19																	19612021		2203	4300	6503	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19612021G>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1296G>A	19.37:g.19612021G>A						GATAD2A_uc010xqu.1_Silent_p.K61K|GATAD2A_uc010xqv.1_Silent_p.K452K|GATAD2A_uc010xqw.1_Silent_p.K260K	p.K432K	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			9	1608	+			432			GATA-type.		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.1296G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220123	0.22373	.	.	ENSG00000167491	ENST00000418032	.	.	.	5.76	2.05	0.26809	.	.	.	.	.	T	0.59865	0.2225	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56625	-0.7948	4	.	.	.	-21.7282	11.1251	0.48312	0.2417:0.0:0.7583:0.0	.	.	.	.	K	59	.	.	E	+	1	0	GATAD2A	19473021	1.000000	0.71417	0.963000	0.40424	0.906000	0.53458	2.459000	0.45023	0.795000	0.33922	0.650000	0.86243	GAG		0.622	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4		NM_017660		7	44	0	0	0	0.00308	0	7	44		
ZNF737	100129842	broad.mit.edu	37	19	20728335	20728335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:20728335C>G	ENST00000427401.4	-	4	768	c.674G>C	c.(673-675)gGa>gCa	p.G225A		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G224A(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCGTTTCTCTCCAGTATGAAT	0.403																																						uc002npa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(673-675)GGA>GCA		zinc finger protein 737							26.0	26.0	26.0					19																	20728335		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728335C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.674G>C	19.37:g.20728335C>G	ENSP00000395733:p.Gly225Ala						p.G225A	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	854	-			225					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.674G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	13.57	2.277989	0.40294	.	.	ENSG00000237440	ENST00000427401	T	0.26373	1.74	0.792	0.792	0.18625	.	.	.	.	.	T	0.26593	0.0650	M	0.64080	1.96	0.35859	D	0.827372	P	0.44776	0.843	B	0.43623	0.425	T	0.32771	-0.9894	9	0.87932	D	0	.	6.9353	0.24463	0.0:0.9999:0.0:1.0E-4	.	225	C9JHM3	.	A	225	ENSP00000395733:G225A	ENSP00000395733:G225A	G	-	2	0	ZNF737	20520175	0.740000	0.28207	0.044000	0.18714	0.044000	0.14063	1.996000	0.40776	0.159000	0.19401	0.162000	0.16502	GGA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289		3	56	0	0	0	0.004672	0	3	56		
KIAA0355	9710	broad.mit.edu	37	19	34818939	34818939	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:34818939G>A	ENST00000299505.6	+	6	1860	c.987G>A	c.(985-987)caG>caA	p.Q329Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	329								p.Q329Q(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGGAGGCAGACACCCCCGC	0.617																																						uc002nvd.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(985-987)CAG>CAA		hypothetical protein LOC9710							76.0	82.0	80.0					19																	34818939		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34818939G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.987G>A	19.37:g.34818939G>A							p.Q329Q	NM_014686	NP_055501	O15063	K0355_HUMAN			6	1846	+	Esophageal squamous(110;0.162)		329					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.987G>A	CCDS12436.1																																																																																				0.617	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		42	107	0	0	0	0.009718	0	42	107		
LSR	51599	broad.mit.edu	37	19	35758034	35758034	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:35758034C>G	ENST00000361790.3	+	9	1470	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000427250.1_Silent_p.L281L|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Silent_p.L417L|LSR_ENST00000354900.3_Silent_p.L418L|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000360798.3_Silent_p.L369L|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000347609.4_Silent_p.L379L	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	437					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.L437L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCACCTCCCTCCACGAGGACG	0.682																																						uc002nyl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1309-1311)CTC>CTG		lipolysis stimulated lipoprotein receptor							32.0	41.0	38.0					19																	35758034		2116	4243	6359	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35758034C>G	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1311C>G	19.37:g.35758034C>G						LSR_uc002nym.2_Silent_p.L418L|LSR_uc002nyn.2_Silent_p.L369L|LSR_uc002nyo.2_Silent_p.L417L|LSR_uc010xsr.1_Silent_p.L329L|LSR_uc002nyp.2_Silent_p.L379L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.L437L	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		9	1534	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		437			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.1311C>G	CCDS12450.1																																																																																				0.682	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2		NM_015925		6	33	0	0	0	0.001984	0	6	33		
WDR62	284403	broad.mit.edu	37	19	36591653	36591653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:36591653G>A	ENST00000270301.7	+	23	2743	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	WDR62_ENST00000401500.2_Missense_Mutation_p.E915K			O43379	WDR62_HUMAN	WD repeat domain 62	915					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E915K(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCATAGTCAGAGAGTCCCCA	0.627																																						uc002odc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2743-2745)GAG>AAG		WD repeat domain 62 isoform 2							70.0	74.0	73.0					19																	36591653		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36591653G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2743G>A	19.37:g.36591653G>A	ENSP00000270301:p.Glu915Lys					WDR62_uc002odd.2_Missense_Mutation_p.E915K	p.E915K	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		23	2834	+	Esophageal squamous(110;0.162)		915					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2743G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255565	0.22965	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.34859	1.34;1.34	4.65	3.62	0.41486	.	0.605284	0.15511	N	0.258548	T	0.29458	0.0734	L	0.57536	1.79	0.80722	D	1	B;B	0.31548	0.328;0.22	B;B	0.29785	0.107;0.05	T	0.03051	-1.1078	10	0.10636	T	0.68	-26.0229	8.6524	0.34042	0.1007:0.0:0.8993:0.0	.	915;915	O43379-4;O43379	.;WDR62_HUMAN	K	915	ENSP00000384792:E915K;ENSP00000270301:E915K	ENSP00000270301:E915K	E	+	1	0	WDR62	41283493	0.440000	0.25618	0.887000	0.34795	0.125000	0.20455	0.655000	0.24933	1.571000	0.49722	0.561000	0.74099	GAG		0.627	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1		NM_015671		17	103	0	0	0	0.010504	0	17	103		
ZFP82	284406	broad.mit.edu	37	19	36884578	36884578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:36884578C>T	ENST00000392161.3	-	5	906	c.664G>A	c.(664-666)Ggt>Agt	p.G222S	ZFP82_ENST00000392171.1_Missense_Mutation_p.G222S	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G222S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTCACCAGAATGAAGT	0.413																																						uc002ody.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(664-666)GGT>AGT		zinc finger protein 82 homolog							113.0	110.0	111.0					19																	36884578		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884578C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.664G>A	19.37:g.36884578C>T	ENSP00000431265:p.Gly222Ser						p.G222S	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	899	-			222					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.664G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571077	0.45798	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.25085	1.82;1.82	4.47	4.47	0.54385	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.536654	0.15746	N	0.246647	T	0.38506	0.1043	M	0.79693	2.465	0.37464	D	0.915357	P	0.40144	0.704	B	0.42386	0.386	T	0.51787	-0.8661	10	0.56958	D	0.05	.	14.6873	0.69059	0.0:1.0:0.0:0.0	.	222	Q8N141	ZFP82_HUMAN	S	222	ENSP00000431265:G222S;ENSP00000446080:G222S	ENSP00000431265:G222S	G	-	1	0	ZFP82	41576418	0.226000	0.23696	1.000000	0.80357	0.998000	0.95712	4.423000	0.59861	2.319000	0.78375	0.655000	0.94253	GGT		0.413	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2		NM_133466		29	118	0	0	0	0.007291	0	29	118		
ZNF829	374899	broad.mit.edu	37	19	37382767	37382767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:37382767G>C	ENST00000391711.3	-	6	1290	c.926C>G	c.(925-927)tCa>tGa	p.S309*	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Nonsense_Mutation_p.S390*	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S309*(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAAGCCTTGAGTGTTGAGT	0.383																																						uc002ofa.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(925-927)TCA>TGA		zinc finger protein 829							76.0	78.0	77.0					19																	37382767		2200	4300	6500	SO:0001587	stop_gained	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382767G>C	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.926C>G	19.37:g.37382767G>C	ENSP00000429266:p.Ser309*					ZNF345_uc002oez.2_Intron	p.S309*	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1288	-	Esophageal squamous(110;0.183)		309			C2H2-type 6.		Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	ENST00000391711.3	37	c.926C>G	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131755	0.94473	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7668	0.62999	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000429266:S309X	S	-	2	0	ZNF829	42074607	0.000000	0.05858	0.967000	0.41034	0.992000	0.81027	0.819000	0.27308	1.967000	0.57214	0.650000	0.86243	TCA		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3		NM_001037232		18	216	0	0	0	0.00499	0	18	216		
ZNF527	84503	broad.mit.edu	37	19	37880276	37880276	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:37880276T>A	ENST00000436120.2	+	5	1432	c.1325T>A	c.(1324-1326)tTc>tAc	p.F442Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F442Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTTCAAATGTAGT	0.428																																						uc010efk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1324-1326)TTC>TAC		zinc finger protein 527							63.0	69.0	67.0					19																	37880276		2196	4296	6492	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880276T>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1325T>A	19.37:g.37880276T>A	ENSP00000390179:p.Phe442Tyr					ZNF527_uc002ogf.3_Missense_Mutation_p.F410Y|ZNF527_uc010xtq.1_RNA	p.F442Y	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1436	+			442			C2H2-type 7.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1325T>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	T	0.498	-0.872021	0.02570	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.42	-0.537	0.11872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35838	N	0.002952	T	0.12347	0.0300	N	0.04387	-0.21	0.20638	N	0.999873	B;B	0.25772	0.088;0.134	B;B	0.28139	0.08;0.086	T	0.37291	-0.9712	9	0.02654	T	1	.	8.059	0.30623	0.4678:0.0:0.0:0.5322	.	442;410	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Y	442;410;390	.	ENSP00000325231:F410Y	F	+	2	0	ZNF527	42572116	0.000000	0.05858	0.951000	0.38953	0.990000	0.78478	-2.484000	0.00980	-0.016000	0.14127	0.533000	0.62120	TTC		0.428	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1		NM_032453		7	249	0	0	0	0.001984	0	7	249		
ZNF607	84775	broad.mit.edu	37	19	38190458	38190458	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:38190458G>T	ENST00000355202.4	-	5	1169	c.574C>A	c.(574-576)Cat>Aat	p.H192N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H191N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H192N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTCTCAACATGAACTTTCCCA	0.393																																						uc002ohc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(574-576)CAT>AAT		zinc finger protein 607							115.0	108.0	110.0					19																	38190458		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190458G>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.574C>A	19.37:g.38190458G>T	ENSP00000347338:p.His192Asn					ZNF607_uc002ohb.1_Missense_Mutation_p.H191N	p.H192N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1170	-			192			C2H2-type 3.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.574C>A	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952598	0.53293	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.28895	1.59;1.59	1.91	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63651	0.2529	H	0.94345	3.525	0.26352	N	0.977184	D;D	0.89917	0.991;1.0	P;D	0.91635	0.908;0.999	T	0.55276	-0.8166	9	0.72032	D	0.01	.	10.8157	0.46573	0.0:0.0:1.0:0.0	.	192;191	Q96SK3;F5H141	ZN607_HUMAN;.	N	192;191	ENSP00000347338:H192N;ENSP00000438015:H191N	ENSP00000347338:H192N	H	-	1	0	ZNF607	42882298	1.000000	0.71417	0.916000	0.36221	0.564000	0.35744	5.814000	0.69208	1.048000	0.40298	0.561000	0.74099	CAT		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689		51	646	1	0	4.10826e-27	0.01441	4.35021e-27	51	646		
FCGBP	8857	broad.mit.edu	37	19	40408603	40408603	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:40408603G>C	ENST00000221347.6	-	8	4243	c.4236C>G	c.(4234-4236)gcC>gcG	p.A1412A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1412	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A1412A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAACTCATTGGCGTTGCCTG	0.632																																						uc002omp.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(4234-4236)GCC>GCG		Fc fragment of IgG binding protein precursor							90.0	84.0	86.0					19																	40408603		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40408603G>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4236C>G	19.37:g.40408603G>C							p.A1412A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4244	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1412			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.4236C>G	CCDS12546.1																																																																																				0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890		16	44	0	0	0	0.00499	0	16	44		
PSMC4	5704	broad.mit.edu	37	19	40480725	40480725	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:40480725T>C	ENST00000157812.2	+	6	861	c.663T>C	c.(661-663)caT>caC	p.H221H	PSMC4_ENST00000455878.2_Silent_p.H190H	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H221H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGGTGGCACATCACACAACAG	0.597																																					Colon(105;1478 1543 4034 6132 38638)	uc002omq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(661-663)CAT>CAC		proteasome 26S ATPase subunit 4 isoform 1							82.0	70.0	74.0					19																	40480725		2203	4300	6503	SO:0001819	synonymous_variant	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480725T>C	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.663T>C	19.37:g.40480725T>C						PSMC4_uc002omr.2_Silent_p.H190H	p.H221H	NM_006503	NP_006494	P43686	PRS6B_HUMAN			6	700	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		221					Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	c.663T>C	CCDS12547.1																																																																																				0.597	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1		NM_006503		8	29	0	0	0	0.006214	0	8	29		
TMEM91	641649	broad.mit.edu	37	19	41884361	41884361	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:41884361C>T	ENST00000392002.2	+	2	807	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CTC-435M10.3_ENST00000540732.1_Silent_p.F49F|TMEM91_ENST00000544232.1_Silent_p.F49F|TMEM91_ENST00000604123.1_Silent_p.F106F|TMEM91_ENST00000542945.1_Silent_p.F49F|TMEM91_ENST00000539627.1_Silent_p.F49F|TMEM91_ENST00000413014.2_Silent_p.F49F|BCKDHA_ENST00000595085.1_Silent_p.F49F|TMEM91_ENST00000356385.4_Silent_p.F49F|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000447302.2_Silent_p.F49F|TMEM91_ENST00000436170.2_Silent_p.F49F	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	49					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.F49F(2)		lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GTTTGCAGTTCCTGTCACCGC	0.617																																						uc002oqm.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(145-147)TTC>TTT		branched chain keto acid dehydrogenase E1, alpha							60.0	64.0	63.0					19																	41884361		1901	4123	6024	SO:0001819	synonymous_variant	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41884361C>T	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.147C>T	19.37:g.41884361C>T						CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Silent_p.F49F|TMEM91_uc010ehq.2_Silent_p.F49F|TMEM91_uc002oql.2_Silent_p.F49F|TMEM91_uc010ehr.2_Silent_p.F49F|TMEM91_uc010ehs.2_Silent_p.F49F|TMEM91_uc010eht.2_Silent_p.F49F|TMEM91_uc002oqk.3_Silent_p.F49F|TMEM91_uc002oqn.2_Silent_p.F49F	p.F49F	NM_000709	NP_000700	P12694	ODBA_HUMAN			2	498	+			Error:Variant_position_missing_in_P12694_after_alignment					C9J9D1|C9JZ62|C9K046|Q6P434	Silent	SNP	ENST00000392002.2	37	c.147C>T	CCDS42571.1																																																																																				0.617	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2				19	41	0	0	0	0.008871	0	19	41		
CEACAM5	1048	broad.mit.edu	37	19	42213827	42213827	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:42213827G>T	ENST00000221992.6	+	2	407	c.293G>T	c.(292-294)cGa>cTa	p.R98L	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R98L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R98L|CEA_ENST00000598976.1_Missense_Mutation_p.R98L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	98	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.R98L(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACAGTGGTCGAGAGATAATA	0.448																																						uc002ork.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(292-294)CGA>CTA		carcinoembryonic antigen-related cell adhesion							227.0	226.0	226.0					19																	42213827		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213827G>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.293G>T	19.37:g.42213827G>T	ENSP00000221992:p.Arg98Leu					CEACAM5_uc010ehz.1_Missense_Mutation_p.R98L|CEACAM5_uc002orj.1_Missense_Mutation_p.R98L|CEACAM5_uc002orl.2_Missense_Mutation_p.R98L	p.R98L	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	414	+			98			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.293G>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	14.97	2.693294	0.48202	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.72505	-0.66;-0.66	3.09	2.04	0.26737	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87229	0.6125	H	0.97852	4.09	0.09310	N	1	D;D;D	0.60160	0.987;0.973;0.973	D;D;D	0.67103	0.949;0.919;0.948	T	0.75388	-0.3335	9	0.87932	D	0	.	5.8752	0.18824	0.1525:0.0:0.8475:0.0	.	98;98;98	Q8N4D0;P06731;Q53G30	.;CEAM5_HUMAN;.	L	98	ENSP00000221992:R98L;ENSP00000385072:R98L	ENSP00000221992:R98L	R	+	2	0	CEACAM5	46905667	0.227000	0.23707	0.001000	0.08648	0.011000	0.07611	1.699000	0.37804	0.643000	0.30638	0.305000	0.20034	CGA		0.448	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363		39	229	1	0	3.21399e-22	0.004878	3.38295e-22	39	229		
GSK3A	2931	broad.mit.edu	37	19	42744116	42744116	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:42744116C>G	ENST00000222330.3	-	2	589	c.462G>C	c.(460-462)aaG>aaC	p.K154N	GSK3A_ENST00000398249.4_Missense_Mutation_p.K72N|AC006486.1_ENST00000378108.1_5'Flank|AC006486.9_ENST00000594664.1_Missense_Mutation_p.K67N	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.K154N(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCTTGAACCTCTTGTCCTGGA	0.567																																						uc002otb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(460-462)AAG>AAC		glycogen synthase kinase 3 alpha							148.0	100.0	116.0					19																	42744116		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42744116C>G		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.462G>C	19.37:g.42744116C>G	ENSP00000222330:p.Lys154Asn					GSK3A_uc002ota.1_Missense_Mutation_p.K72N|GSK3A_uc002otc.2_RNA	p.K154N	NM_019884	NP_063937	P49840	GSK3A_HUMAN			2	581	-		Prostate(69;0.00682)	154			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.462G>C	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053456	0.75960	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.66280	-0.2;-0.2	5.22	3.08	0.35506	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	T	0.65801	0.2726	L	0.31207	0.915	0.58432	D	0.999998	D;P	0.63046	0.992;0.954	D;D	0.71656	0.974;0.94	T	0.66720	-0.5852	10	0.87932	D	0	-7.2275	10.344	0.43895	0.0:0.8335:0.0:0.1665	.	154;72	P49840;A8MT37	GSK3A_HUMAN;.	N	154;72;99	ENSP00000222330:K154N;ENSP00000381301:K72N	ENSP00000222330:K154N	K	-	3	2	GSK3A	47435956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.939000	0.28978	0.695000	0.31675	0.555000	0.69702	AAG		0.567	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1				5	33	0	0	0	0.000602	0	5	33		
ERCC2	2068	broad.mit.edu	37	19	45873455	45873455	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:45873455T>C	ENST00000391945.4	-	2	118	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	ERCC2_ENST00000391940.4_5'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y14C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y14C|ERCC2_ENST00000485403.2_5'UTR	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	14	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.Y14C(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGTAGTCGTACGGGAAGTA	0.682			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(40-42)TAC>TGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							66.0	65.0	65.0					19																	45873455		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45873455T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.41A>G	19.37:g.45873455T>C	ENSP00000375809:p.Tyr14Cys					ERCC2_uc010ejz.2_Missense_Mutation_p.Y14C|ERCC2_uc002pbk.2_5'UTR|ERCC2_uc002pbl.3_5'UTR|ERCC2_uc010xxj.1_RNA	p.Y14C	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	2	88	-		Ovarian(192;0.0728)|all_neural(266;0.112)	14			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.41A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087791	0.94100	.	.	ENSG00000104884	ENST00000391945;ENST00000391944;ENST00000221481	D;D;D	0.92249	-3.0;-3.0;-3.0	5.62	5.62	0.85841	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.97059	0.9039	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.984;0.999	D	0.97994	1.0356	10	0.87932	D	0	-31.2835	13.7787	0.63071	0.0:0.0:0.0:1.0	.	14;14	E7EVE9;P18074	.;ERCC2_HUMAN	C	14	ENSP00000375809:Y14C;ENSP00000375808:Y14C;ENSP00000221481:Y14C	ENSP00000221481:Y14C	Y	-	2	0	ERCC2	50565295	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	6.428000	0.73383	2.143000	0.66587	0.443000	0.29094	TAC		0.682	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		4	27	0	0	0	0.001168	0	4	27		
PPP1R13L	10848	broad.mit.edu	37	19	45899596	45899596	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:45899596G>A	ENST00000418234.2	-	5	889	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	PPP1R13L_ENST00000360957.5_Splice_Site_p.R271C	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	271	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R271C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACCACTCACGTTCATAGCTC	0.652																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(811-813)CGC>TGC		protein phosphatase 1, regulatory subunit 13							61.0	62.0	61.0					19																	45899596		2203	4300	6503	SO:0001630	splice_region_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899596G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.811+1C>T	19.37:g.45899596G>A						PPP1R13L_uc002pbo.2_Missense_Mutation_p.R271C|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R271C	p.R271C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	888	-		all_neural(266;0.224)|Ovarian(192;0.231)	271			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.811C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880936	0.51801	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.62105	0.05;0.05	4.84	4.84	0.62591	.	0.387908	0.26525	N	0.023893	T	0.62073	0.2398	N	0.19112	0.55	0.42504	D	0.992942	D;D	0.89917	1.0;0.999	P;P	0.62435	0.902;0.725	T	0.60994	-0.7152	9	.	.	.	.	13.4461	0.61142	0.0:0.0:1.0:0.0	.	271;271	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	C	271	ENSP00000403902:R271C;ENSP00000354218:R271C	.	R	-	1	0	PPP1R13L	50591436	0.960000	0.32886	0.705000	0.30386	0.221000	0.24807	1.446000	0.35090	2.238000	0.73509	0.561000	0.74099	CGC		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1		NM_006663	Missense_Mutation	15	41	0	0	0	0.004007	0	15	41		
FAM83E	54854	broad.mit.edu	37	19	49116416	49116416	+	Missense_Mutation	SNP	C	C	T	rs552900271		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49116416C>T	ENST00000263266.3	-	1	403	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	72								p.E72K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCAGTCTTCAGCTGCCGCT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		13599	0.001		0.0	False		,,,				2504	0.0					uc002pjn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(214-216)GAA>AAA		hypothetical protein LOC54854							19.0	26.0	24.0					19																	49116416		2124	4241	6365	SO:0001583	missense	54854							g.chr19:49116416C>T	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.214G>A	19.37:g.49116416C>T	ENSP00000263266:p.Glu72Lys						p.E72K	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	279	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	72					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.214G>A	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717566	0.68844	.	.	ENSG00000105523	ENST00000263266	T	0.11821	2.74	5.3	4.26	0.50523	.	0.067571	0.64402	D	0.000015	T	0.22166	0.0534	L	0.43152	1.355	0.35842	D	0.826092	D	0.58970	0.984	P	0.56612	0.802	T	0.14839	-1.0458	10	0.42905	T	0.14	-12.9256	11.9148	0.52759	0.0:0.9142:0.0:0.0858	.	72	Q2M2I3	FA83E_HUMAN	K	72	ENSP00000263266:E72K	ENSP00000263266:E72K	E	-	1	0	FAM83E	53808228	0.323000	0.24643	0.499000	0.27577	0.752000	0.42762	2.154000	0.42291	1.383000	0.46405	0.655000	0.94253	GAA		0.672	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1		NM_017708		15	8	0	0	0	0.006122	0	15	8		
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49377076G>A	ENST00000200453.5	+	2	855	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.E196K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532																																						uc002pky.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(586-588)GAA>AAA		protein phosphatase 1, regulatory subunit 15A							142.0	153.0	149.0					19																	49377076		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377076G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.586G>A	19.37:g.49377076G>A	ENSP00000200453:p.Glu196Lys						p.E196K	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	855	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	196			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.586G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.190114	0.21954	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04119	3.7	4.07	1.87	0.25490	.	1.192680	0.06170	N	0.677513	T	0.03695	0.0105	L	0.29908	0.895	0.09310	N	1	B	0.24768	0.111	B	0.19666	0.026	T	0.43212	-0.9405	10	0.06365	T	0.9	-0.0455	6.705	0.23246	0.2193:0.0:0.7807:0.0	.	196	O75807	PR15A_HUMAN	K	196;36;154	ENSP00000200453:E196K	ENSP00000200453:E196K	E	+	1	0	PPP1R15A	54068888	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.918000	0.28678	0.652000	0.30806	0.511000	0.50034	GAA		0.532	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1		NM_014330		40	56	0	0	0	0.00623	0	40	56		
GYS1	2997	broad.mit.edu	37	19	49481249	49481249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49481249G>A	ENST00000323798.3	-	10	1436	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Missense_Mutation_p.P47S|GYS1_ENST00000263276.6_Missense_Mutation_p.P350S|GYS1_ENST00000541188.1_Missense_Mutation_p.P334S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.P414S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTCATGTCGGGAAGGCTCCCA	0.542																																						uc002plp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1240-1242)CCC>TCC		glycogen synthase 1 (muscle) isoform 1							159.0	124.0	136.0					19																	49481249		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49481249G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1240C>T	19.37:g.49481249G>A	ENSP00000317904:p.Pro414Ser					GYS1_uc010xzy.1_Missense_Mutation_p.P47S|GYS1_uc010emm.2_Missense_Mutation_p.P350S|GYS1_uc010xzz.1_Missense_Mutation_p.P334S|GYS1_uc010yaa.1_RNA	p.P414S	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	10	1481	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1240C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703714	0.88924	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.985;1.0	D	0.88543	0.3111	10	0.87932	D	0	-19.3409	17.0837	0.86605	0.0:0.0:1.0:0.0	.	334;350;414	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	S	414;350;334;47	ENSP00000317904:P414S;ENSP00000263276:P350S;ENSP00000437922:P334S;ENSP00000444004:P47S	ENSP00000263276:P350S	P	-	1	0	GYS1	54173061	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	9.521000	0.98029	2.826000	0.97356	0.491000	0.48974	CCC		0.542	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1		NM_002103		66	89	0	0	0	0.01441	0	66	89		
HRC	3270	broad.mit.edu	37	19	49658329	49658329	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:49658329C>T	ENST00000252825.4	-	1	352	c.166G>A	c.(166-168)Gag>Aag	p.E56K	HRC_ENST00000595625.1_Missense_Mutation_p.E56K|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	56					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E56K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGCGAAGCTCTGCTGATGCC	0.597																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(166-168)GAG>AAG		histidine rich calcium binding protein							191.0	163.0	172.0					19																	49658329		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658329C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.166G>A	19.37:g.49658329C>T	ENSP00000252825:p.Glu56Lys					TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	p.E56K	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	353	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	56					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.166G>A	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319841	0.41096	.	.	ENSG00000130528	ENST00000252825	T	0.06608	3.28	3.26	1.03	0.20045	.	.	.	.	.	T	0.04407	0.0121	N	0.19112	0.55	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.39563	-0.9608	9	0.49607	T	0.09	0.2318	7.3092	0.26465	0.0:0.7663:0.0:0.2337	.	56	P23327	SRCH_HUMAN	K	56	ENSP00000252825:E56K	ENSP00000252825:E56K	E	-	1	0	HRC	54350141	0.003000	0.15002	0.040000	0.18447	0.018000	0.09664	0.421000	0.21280	0.345000	0.23873	0.561000	0.74099	GAG		0.597	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		58	121	0	0	0	0.01441	0	58	121		
ZNF320	162967	broad.mit.edu	37	19	53383882	53383882	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53383882G>A	ENST00000595635.1	-	8	1998	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	ZNF320_ENST00000391781.2_Silent_p.C499C|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C499C(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TATACTCATTGCACTTGAAAC	0.368																																						uc002qag.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1495-1497)TGC>TGT		zinc finger protein 320							89.0	81.0	84.0					19																	53383882		2203	4300	6503	SO:0001819	synonymous_variant	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53383882G>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1497C>T	19.37:g.53383882G>A						ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.C445C|ZNF320_uc002qai.2_Silent_p.C499C	p.C499C	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1688	-			499					Q8NDR6	Silent	SNP	ENST00000595635.1	37	c.1497C>T	CCDS33095.1																																																																																				0.368	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1		NM_207333		22	140	0	0	0	0.004656	0	22	140		
ZNF816	125893	broad.mit.edu	37	19	53454109	53454109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53454109G>A	ENST00000357666.4	-	5	1219	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	ZNF816_ENST00000444460.2_Missense_Mutation_p.H307Y|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H307Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGTATGAAGTCTACGA	0.428																																						uc002qal.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(919-921)CAT>TAT		zinc finger protein 816A							163.0	157.0	159.0					19																	53454109		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454109G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.919C>T	19.37:g.53454109G>A	ENSP00000350295:p.His307Tyr					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.H291Y	p.H307Y	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	1220	-			307			C2H2-type 3.		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.919C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	12.59	1.984684	0.35036	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.67523	-0.27;-0.27	1.78	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84165	0.5412	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86191	0.1612	9	0.72032	D	0.01	.	10.5088	0.44849	0.0:0.0:1.0:0.0	.	307	Q0VGE8	ZN816_HUMAN	Y	307	ENSP00000350295:H307Y;ENSP00000403266:H307Y	ENSP00000350295:H307Y	H	-	1	0	ZNF816	58145921	1.000000	0.71417	0.107000	0.21349	0.119000	0.20118	5.781000	0.68964	0.961000	0.38030	0.197000	0.17608	CAT		0.428	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1		NM_001031665		152	185	0	0	0	0.01441	0	152	185		
ZNF160	90338	broad.mit.edu	37	19	53573363	53573363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:53573363C>G	ENST00000429604.1	-	7	839	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	ZNF160_ENST00000599056.1_Missense_Mutation_p.E142Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E142Q|ZNF160_ENST00000601421.1_Missense_Mutation_p.E106Q	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	142					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E142Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTGACACTCAAAATCATGC	0.423																																						uc010eqk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(424-426)GAG>CAG		zinc finger protein 160							235.0	216.0	222.0					19																	53573363		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573363C>G	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.424G>C	19.37:g.53573363C>G	ENSP00000406201:p.Glu142Gln					ZNF160_uc002qaq.3_Missense_Mutation_p.E142Q|ZNF160_uc002qar.3_Missense_Mutation_p.E142Q	p.E142Q	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	840	-			142					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.424G>C	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292074	0.23564	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.08102	3.13;3.13	2.71	-1.44	0.08856	.	.	.	.	.	T	0.10252	0.0251	L	0.41492	1.28	0.09310	N	1	D	0.63880	0.993	P	0.55508	0.777	T	0.18903	-1.0322	9	0.37606	T	0.19	.	2.0807	0.03634	0.1793:0.2858:0.4048:0.1301	.	142	Q9HCG1	ZN160_HUMAN	Q	142	ENSP00000406201:E142Q;ENSP00000409597:E142Q	ENSP00000409597:E142Q	E	-	1	0	ZNF160	58265175	0.000000	0.05858	0.002000	0.10522	0.054000	0.15201	-0.575000	0.05861	-0.342000	0.08363	-0.311000	0.09066	GAG		0.423	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2		NM_033288		125	154	0	0	0	0.01441	0	125	154		
RPS9	6203	broad.mit.edu	37	19	54705081	54705081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:54705081G>C	ENST00000302907.4	+	2	201	c.29G>C	c.(28-30)cGc>cCc	p.R10P	AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000391752.1_Missense_Mutation_p.R10P|RPS9_ENST00000391753.2_Missense_Mutation_p.R10P|RPS9_ENST00000391751.3_Missense_Mutation_p.R10P|RPS9_ENST00000402367.1_Missense_Mutation_p.R10P|RPS9_ENST00000441429.1_Missense_Mutation_p.R10P	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	10					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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)	p.R10P(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	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;0.18)		TGGGTTTGTCGCAAAACTTAT	0.617																																						uc002qdx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(28-30)CGC>CCC		ribosomal protein S9							47.0	48.0	48.0					19																	54705081		2203	4300	6503	SO:0001583	missense	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54705081G>C	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.29G>C	19.37:g.54705081G>C	ENSP00000302896:p.Arg10Pro					RPS9_uc002qdy.2_Missense_Mutation_p.R10P|RPS9_uc002qdz.2_Missense_Mutation_p.R10P|RPS9_uc002qea.2_Missense_Mutation_p.R10P|RPS9_uc002qeb.2_Missense_Mutation_p.R10P|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Missense_Mutation_p.R10P	p.R10P	NM_001013	NP_001004	P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	2	85	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		10					A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37	c.29G>C	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369932	0.82573	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391751;ENST00000391753;ENST00000441429	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.63	4.63	0.57726	Ribosomal protein S4/S9, N-terminal (1);	0.108137	0.64402	D	0.000008	T	0.59649	0.2209	M	0.65320	2	0.51233	D	0.99991	P;D;P;D	0.57899	0.653;0.981;0.484;0.965	P;D;P;P	0.64144	0.759;0.922;0.585;0.852	T	0.62081	-0.6929	10	0.59425	D	0.04	-5.2669	15.7862	0.78306	0.0:0.0:1.0:0.0	.	10;10;10;10	B5MCT8;C9JM19;A8MXK4;P46781	.;.;.;RS9_HUMAN	P	10	ENSP00000302896:R10P;ENSP00000375632:R10P;ENSP00000383937:R10P;ENSP00000375631:R10P;ENSP00000375633:R10P;ENSP00000414314:R10P	ENSP00000302896:R10P	R	+	2	0	RPS9	59396893	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.997000	0.93544	2.528000	0.85240	0.563000	0.77884	CGC		0.617	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3		NM_001013		22	48	0	0	0	0.00278	0	22	48		
TNNI3	7137	broad.mit.edu	37	19	55667621	55667621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:55667621C>T	ENST00000344887.5	-	5	372	c.230G>A	c.(229-231)aGc>aAc	p.S77N	CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000588882.1_Missense_Mutation_p.S52N|DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	77	Involved in binding TNC.				cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)	p.S77N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCAGCGGGTGCTCAGAGCGCG	0.657																																						uc002qjg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|pancreas(1)	2						c.(229-231)AGC>AAC		troponin I, cardiac							11.0	13.0	12.0					19																	55667621		1783	3898	5681	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55667621C>T	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.230G>A	19.37:g.55667621C>T	ENSP00000341838:p.Ser77Asn					TNNI3_uc010yft.1_Missense_Mutation_p.S69N	p.S77N	NM_000363	NP_000354	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	230	-			77			Involved in binding TNC.			Missense_Mutation	SNP	ENST00000344887.5	37	c.230G>A	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204369	0.38905	.	.	ENSG00000129991	ENST00000344887	D	0.92099	-2.97	4.42	3.38	0.38709	.	0.465643	0.20259	N	0.095920	T	0.81697	0.4877	N	0.17594	0.5	0.25630	N	0.986311	B	0.02656	0.0	B	0.01281	0.0	T	0.67158	-0.5741	10	0.27082	T	0.32	-17.113	4.7647	0.13127	0.0:0.6211:0.181:0.1979	.	77	P19429	TNNI3_HUMAN	N	77	ENSP00000341838:S77N	ENSP00000341838:S77N	S	-	2	0	TNNI3	60359433	0.420000	0.25457	0.993000	0.49108	0.934000	0.57294	0.375000	0.20518	1.002000	0.39104	0.555000	0.69702	AGC		0.657	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1				4	16	0	0	0	0.000602	0	4	16		
ZNF460	10794	broad.mit.edu	37	19	57802811	57802811	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:57802811G>C	ENST00000360338.3	+	3	1224	c.902G>C	c.(901-903)aGc>aCc	p.S301T	ZNF460_ENST00000537645.1_Missense_Mutation_p.S260T	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S301T(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAAGAGCCACAATGAG	0.473																																						uc002qog.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(901-903)AGC>ACC		zinc finger protein 460							97.0	87.0	91.0					19																	57802811		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802811G>C	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.902G>C	19.37:g.57802811G>C	ENSP00000353491:p.Ser301Thr					ZNF460_uc010ygv.1_Missense_Mutation_p.S260T	p.S301T	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1224	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	301			C2H2-type 4.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.902G>C	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	4.374	0.068999	0.08436	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.16073	2.37;2.37	1.64	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34551	-0.9824	9	0.44086	T	0.13	.	5.5084	0.16866	0.0:0.2317:0.4475:0.3208	.	301	Q14592	ZN460_HUMAN	T	260;301	ENSP00000446167:S260T;ENSP00000353491:S301T	ENSP00000353491:S301T	S	+	2	0	ZNF460	62494623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.746000	0.01335	-1.067000	0.02272	AGC		0.473	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1		NM_006635		22	141	0	0	0	0.014323	0	22	141		
ZSCAN1	284312	broad.mit.edu	37	19	58565117	58565117	+	Missense_Mutation	SNP	G	G	A	rs372224557		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:58565117G>A	ENST00000282326.1	+	6	1172	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	309					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.E309K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCACTTCATCGAGCACCAGAA	0.627																																						uc002qrc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(925-927)GAG>AAG		zinc finger and SCAN domain containing 1		G	LYS/GLU	0,4406		0,0,2203	75.0	66.0	69.0		925	0.2	0.0	19		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZSCAN1	NM_182572.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	309/409	58565117	1,13005	2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565117G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.925G>A	19.37:g.58565117G>A	ENSP00000282326:p.Glu309Lys						p.E309K	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1172	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	309			C2H2-type 1.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.925G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065448	0.36470	0.0	1.16E-4	ENSG00000152467	ENST00000282326	T	0.16073	2.37	1.38	0.225	0.15325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	N	0.10837	0.055	0.09310	N	1	D	0.61697	0.99	P	0.49683	0.619	T	0.07347	-1.0777	9	0.02654	T	1	.	2.6744	0.05077	0.2086:0.3191:0.4722:0.0	.	309	Q8NBB4	ZSCA1_HUMAN	K	309	ENSP00000282326:E309K	ENSP00000282326:E309K	E	+	1	0	ZSCAN1	63256929	0.000000	0.05858	0.009000	0.14445	0.070000	0.16714	-1.960000	0.01517	0.117000	0.18138	-0.479000	0.04858	GAG		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		NM_182572		25	39	0	0	0	0.003954	0	25	39		
SLC27A5	10998	broad.mit.edu	37	19	59011983	59011983	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:59011983G>A	ENST00000263093.2	-	5	1382	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.P341S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	425					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.P425S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCCGAATAGGACCGAAGCGC	0.587																																						uc002qtc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1273-1275)CCT>TCT		solute carrier family 27 (fatty acid							94.0	88.0	90.0					19																	59011983		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011983G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1273C>T	19.37:g.59011983G>A	ENSP00000263093:p.Pro425Ser					SLC27A5_uc002qtb.2_5'Flank	p.P425S	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	5	1383	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	425			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1273C>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861793	0.51482	.	.	ENSG00000083807	ENST00000263093	T	0.40225	1.04	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.464035	0.25019	N	0.033771	T	0.50034	0.1592	L	0.58428	1.81	0.32770	N	0.503872	P	0.46064	0.872	P	0.53988	0.739	T	0.50792	-0.8786	10	0.09084	T	0.74	-30.3883	14.6351	0.68682	0.0:0.0:1.0:0.0	.	425	Q9Y2P5	S27A5_HUMAN	S	425	ENSP00000263093:P425S	ENSP00000263093:P425S	P	-	1	0	SLC27A5	63703795	0.641000	0.27251	0.998000	0.56505	0.966000	0.64601	0.883000	0.28200	2.603000	0.88011	0.563000	0.77884	CCT		0.587	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254		35	48	0	0	0	0.004289	0	35	48		
GREB1	9687	broad.mit.edu	37	2	11765299	11765299	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:11765299C>T	ENST00000381486.2	+	24	4467	c.4167C>T	c.(4165-4167)gaC>gaT	p.D1389D	GREB1_ENST00000396123.1_Silent_p.D387D|GREB1_ENST00000234142.5_Silent_p.D1389D	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1389						integral component of membrane (GO:0016021)		p.D1389D(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AAGAATCTGACTGGCATTATC	0.438																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(4165-4167)GAC>GAT		growth regulation by estrogen in breast cancer 1							174.0	166.0	169.0					2																	11765299		1901	4125	6026	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11765299C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4167C>T	2.37:g.11765299C>T						GREB1_uc002rbp.1_Silent_p.D387D	p.D1389D	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	24	4467	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1389					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.4167C>T	CCDS42655.1																																																																																				0.438	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		41	263	0	0	0	0.00623	0	41	263		
GREB1	9687	broad.mit.edu	37	2	11774306	11774306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:11774306C>T	ENST00000381486.2	+	29	5341	c.5041C>T	c.(5041-5043)Cac>Tac	p.H1681Y	GREB1_ENST00000396123.1_Missense_Mutation_p.H679Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H1681Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1681						integral component of membrane (GO:0016021)		p.H1681Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATCATGCAGCACATCGAGGC	0.622																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(5041-5043)CAC>TAC		growth regulation by estrogen in breast cancer 1							102.0	109.0	107.0					2																	11774306		2160	4259	6419	SO:0001583	missense	9687					integral to membrane		g.chr2:11774306C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5041C>T	2.37:g.11774306C>T	ENSP00000370896:p.His1681Tyr					GREB1_uc002rbp.1_Missense_Mutation_p.H679Y	p.H1681Y	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5341	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1681					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.5041C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743223	0.89663	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.49432	0.78;0.78;0.78	5.01	5.01	0.66863	.	0.049214	0.85682	D	0.000000	T	0.65637	0.2710	M	0.70595	2.14	0.58432	D	0.999999	D	0.62365	0.991	P	0.58970	0.849	T	0.70806	-0.4772	10	0.87932	D	0	-36.4756	18.329	0.90262	0.0:1.0:0.0:0.0	.	1681	Q4ZG55	GREB1_HUMAN	Y	1681;1681;679	ENSP00000370896:H1681Y;ENSP00000234142:H1681Y;ENSP00000379429:H679Y	ENSP00000234142:H1681Y	H	+	1	0	GREB1	11691757	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.381000	0.79718	2.321000	0.78463	0.462000	0.41574	CAC		0.622	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		17	111	0	0	0	0.006122	0	17	111		
RAD51AP2	729475	broad.mit.edu	37	2	17699508	17699508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:17699508C>T	ENST00000399080.2	-	1	198	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	59								p.E59K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTCCGCCTCAGACAAGCGA	0.547																																						uc002rcl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(175-177)GAG>AAG		RAD51 associated protein 2							76.0	78.0	78.0					2																	17699508		1886	4103	5989	SO:0001583	missense	729475							g.chr2:17699508C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.175G>A	2.37:g.17699508C>T	ENSP00000382030:p.Glu59Lys					RAD51AP2_uc010exn.1_Missense_Mutation_p.E50K	p.E59K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	199	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		59						Missense_Mutation	SNP	ENST00000399080.2	37	c.175G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300963	0.60195	.	.	ENSG00000214842	ENST00000399080	T	0.30182	1.54	3.72	3.72	0.42706	.	.	.	.	.	T	0.41581	0.1165	L	0.29908	0.895	0.25733	N	0.98524	D	0.89917	1.0	D	0.72338	0.977	T	0.14448	-1.0472	9	0.87932	D	0	-6.2846	11.2986	0.49292	0.0:1.0:0.0:0.0	.	59	Q09MP3	R51A2_HUMAN	K	59	ENSP00000382030:E59K	ENSP00000382030:E59K	E	-	1	0	RAD51AP2	17562989	0.796000	0.28864	1.000000	0.80357	0.135000	0.20990	1.590000	0.36654	2.380000	0.81148	0.591000	0.81541	GAG		0.547	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218		40	124	0	0	0	0.006999	0	40	124		
VSNL1	7447	broad.mit.edu	37	2	17773477	17773477	+	Missense_Mutation	SNP	G	G	C	rs371103320		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:17773477G>C	ENST00000406397.1	+	2	661	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	VSNL1_ENST00000404666.2_Missense_Mutation_p.E46Q|VSNL1_ENST00000295156.4_Missense_Mutation_p.E46Q			P62760	VISL1_HUMAN	visinin-like 1	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.E46Q(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTAAATCTCGAGGAATTTCA	0.428																																						uc002rcm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(136-138)GAG>CAG		visinin-like 1							170.0	162.0	165.0					2																	17773477		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17773477G>C		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.136G>C	2.37:g.17773477G>C	ENSP00000384719:p.Glu46Gln						p.E46Q	NM_003385	NP_003376	P62760	VISL1_HUMAN			2	520	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		46			EF-hand 1.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.136G>C	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404826	0.42613	.	.	ENSG00000163032	ENST00000404666;ENST00000457525;ENST00000295156;ENST00000451533;ENST00000406397	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.44	5.44	0.79542	EF-hand-like domain (1);	0.138905	0.64402	D	0.000004	T	0.62368	0.2422	L	0.46885	1.475	0.58432	D	0.999998	B	0.09022	0.002	B	0.08055	0.003	T	0.55854	-0.8075	10	0.33141	T	0.24	.	18.6387	0.91387	0.0:0.0:1.0:0.0	.	46	P62760	VISL1_HUMAN	Q	46	ENSP00000384014:E46Q;ENSP00000405511:E46Q;ENSP00000295156:E46Q;ENSP00000390124:E46Q;ENSP00000384719:E46Q	ENSP00000295156:E46Q	E	+	1	0	VSNL1	17636958	1.000000	0.71417	0.979000	0.43373	0.464000	0.32679	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	GAG		0.428	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1		NM_003385		30	209	0	0	0	0.012213	0	30	209		
PUM2	23369	broad.mit.edu	37	2	20451400	20451400	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:20451400C>T	ENST00000361078.2	-	20	3169	c.3147G>A	c.(3145-3147)ttG>ttA	p.L1049L	PUM2_ENST00000319801.5_Silent_p.L970L|PUM2_ENST00000536417.1_Silent_p.L991L|PUM2_ENST00000338086.5_Silent_p.L1047L|PUM2_ENST00000403432.1_Silent_p.L1047L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1049					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.L1047L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTATTCTTCAAATAATACT	0.378																																						uc002rds.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(3139-3141)TTG>TTA		pumilio homolog 2							167.0	168.0	168.0					2																	20451400		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20451400C>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.3147G>A	2.37:g.20451400C>T						PUM2_uc002rdq.1_Silent_p.L426L|PUM2_uc002rdt.1_Silent_p.L1047L|PUM2_uc002rdr.2_Silent_p.L907L|PUM2_uc010yjy.1_Silent_p.L968L|PUM2_uc002rdu.1_Silent_p.L1047L|PUM2_uc010yjz.1_Silent_p.L986L	p.L1047L	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			20	3164	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1049					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.3141G>A																																																																																					0.378	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015317		84	219	0	0	0	0.01441	0	84	219		
KIF3C	3797	broad.mit.edu	37	2	26204414	26204414	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:26204414C>T	ENST00000264712.3	-	1	952	c.373G>A	c.(373-375)Gag>Aag	p.E125K	KIF3C_ENST00000405914.1_Missense_Mutation_p.E125K	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E125K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATGTGCTCAAAGGCATTC	0.592																																						uc002rgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(373-375)GAG>AAG		kinesin family member 3C							88.0	83.0	85.0					2																	26204414		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204414C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.373G>A	2.37:g.26204414C>T	ENSP00000264712:p.Glu125Lys					KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E125K	p.E125K	NM_002254	NP_002245	O14782	KIF3C_HUMAN			1	1030	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		125			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.373G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305298	0.40795	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.74842	-0.88;-0.88	5.62	4.74	0.60224	Kinesin, motor domain (4);	0.325067	0.35838	N	0.002948	T	0.74321	0.3701	L	0.39326	1.205	0.58432	D	0.999993	B;P	0.45768	0.413;0.866	P;P	0.52066	0.451;0.689	T	0.74203	-0.3741	10	0.45353	T	0.12	.	12.0746	0.53636	0.0:0.9165:0.0:0.0835	.	125;125	B7ZM25;O14782	.;KIF3C_HUMAN	K	125	ENSP00000264712:E125K;ENSP00000385030:E125K	ENSP00000264712:E125K	E	-	1	0	KIF3C	26057918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.814000	0.55643	1.360000	0.45960	0.563000	0.77884	GAG		0.592	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1				19	114	0	0	0	0.006122	0	19	114		
GTF3C2	2976	broad.mit.edu	37	2	27566319	27566319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27566319C>T	ENST00000359541.2	-	2	532	c.103G>A	c.(103-105)Gat>Aat	p.D35N	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D35N|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	35					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.D35N(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTTGACATCAAGCTGATTT	0.547																																						uc002rjv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(103-105)GAT>AAT		general transcription factor IIIC, polypeptide							143.0	142.0	142.0					2																	27566319		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566319C>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.103G>A	2.37:g.27566319C>T	ENSP00000352536:p.Asp35Asn					GTF3C2_uc002rju.1_Missense_Mutation_p.D46N|GTF3C2_uc002rjw.1_Missense_Mutation_p.D35N|GTF3C2_uc010eyz.1_Missense_Mutation_p.D35N	p.D35N	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	466	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		35					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.103G>A	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	9.749	1.166906	0.21621	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.74315	-0.83;-0.83	5.04	4.14	0.48551	.	0.509124	0.18027	N	0.154057	T	0.55386	0.1917	N	0.19112	0.55	0.09310	N	0.999999	P;B;P	0.35272	0.493;0.181;0.493	B;B;B	0.29942	0.109;0.051;0.109	T	0.49844	-0.8896	10	0.38643	T	0.18	-2.2405	9.6183	0.39706	0.0:0.9025:0.0:0.0975	.	35;35;35	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	N	35	ENSP00000352536:D35N;ENSP00000264720:D35N	ENSP00000264720:D35N	D	-	1	0	GTF3C2	27419823	0.998000	0.40836	0.754000	0.31244	0.044000	0.14063	1.939000	0.40213	2.609000	0.88269	0.563000	0.77884	GAT		0.547	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2				82	199	0	0	0	0.01441	0	82	199		
PPM1G	5496	broad.mit.edu	37	2	27609992	27609992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27609992C>T	ENST00000344034.4	-	2	418	c.154G>A	c.(154-156)Gag>Aag	p.E52K	PPM1G_ENST00000350803.4_Missense_Mutation_p.E52K	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	52					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E52K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGGCTGTCTCACTGTCCAGC	0.448																																						uc002rkl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(154-156)GAG>AAG		protein phosphatase 1G							136.0	122.0	127.0					2																	27609992		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27609992C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.154G>A	2.37:g.27609992C>T	ENSP00000342778:p.Glu52Lys					PPM1G_uc002rkm.2_5'UTR	p.E52K	NM_002707	NP_002698	O15355	PPM1G_HUMAN			3	261	-	Acute lymphoblastic leukemia(172;0.155)		52						Missense_Mutation	SNP	ENST00000344034.4	37	c.154G>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743405	0.96873	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.09538	2.97;2.97	5.73	5.73	0.89815	Protein phosphatase 2C-like (5);	0.210224	0.49305	D	0.000154	T	0.11879	0.0289	N	0.11131	0.1	0.58432	D	0.999999	P	0.51449	0.945	P	0.51945	0.685	T	0.24261	-1.0165	10	0.35671	T	0.21	-15.0787	16.6073	0.84834	0.0:1.0:0.0:0.0	.	52	O15355	PPM1G_HUMAN	K	52;52;35	ENSP00000342778:E52K;ENSP00000264714:E52K	ENSP00000342778:E52K	E	-	1	0	PPM1G	27463496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.192000	0.77771	2.704000	0.92352	0.655000	0.94253	GAG		0.448	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1		NM_002707		31	56	0	0	0	0.005524	0	31	56		
XDH	7498	broad.mit.edu	37	2	31572632	31572632	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:31572632G>A	ENST00000379416.3	-	26	2937	c.2889C>T	c.(2887-2889)ttC>ttT	p.F963F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	963					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.F963F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGGGCAAGGTGAAACCCTCAA	0.498																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2887-2889)TTC>TTT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						164.0	157.0	159.0					2																	31572632		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31572632G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2889C>T	2.37:g.31572632G>A							p.F963F	NM_000379	NP_000370	P47989	XDH_HUMAN			26	2968	-	Acute lymphoblastic leukemia(172;0.155)		963					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.2889C>T	CCDS1775.1																																																																																				0.498	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		52	202	0	0	0	0.01441	0	52	202		
SPAST	6683	broad.mit.edu	37	2	32289086	32289086	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32289086G>C	ENST00000315285.3	+	1	311	c.186G>C	c.(184-186)gcG>gcC	p.A62A	SPAST_ENST00000345662.1_Silent_p.A62A	NM_014946.3	NP_055761.2			spastin									p.A62A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGGCTTCGCGCTGCTGCGTT	0.697																																						uc002roc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(184-186)GCG>GCC		spastin isoform 1							42.0	40.0	41.0					2																	32289086		2203	4300	6503	SO:0001819	synonymous_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32289086G>C	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.186G>C	2.37:g.32289086G>C						SPAST_uc002rod.2_Silent_p.A62A	p.A62A	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			1	407	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		62			Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization.			Silent	SNP	ENST00000315285.3	37	c.186G>C	CCDS1778.1																																																																																				0.697	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1		NM_199436		7	15	0	0	0	0.00308	0	7	15		
SLC30A6	55676	broad.mit.edu	37	2	32419049	32419049	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32419049G>A	ENST00000282587.5	+	8	530	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	SLC30A6_ENST00000538303.1_Missense_Mutation_p.E136K|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E205K|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E91K|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000435660.1_Missense_Mutation_p.E165K	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	165					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.E165K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTATGTCTCAGAAGGTATGTT	0.313																																						uc002roe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(493-495)GAA>AAA		solute carrier family 30 (zinc transporter),							151.0	143.0	146.0					2																	32419049		2202	4299	6501	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32419049G>A	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.493G>A	2.37:g.32419049G>A	ENSP00000282587:p.Glu165Lys					SLC30A6_uc002rof.1_Missense_Mutation_p.E205K|SLC30A6_uc010ymw.1_Missense_Mutation_p.E136K|SLC30A6_uc010ezr.1_Missense_Mutation_p.E165K|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Missense_Mutation_p.E91K|SLC30A6_uc002roh.1_5'UTR	p.E165K	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			8	530	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		165			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.493G>A	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185776	0.57909	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000406369	T;T;T	0.77877	0.04;-1.13;-1.13	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.31578	0.945	0.80722	D	1	B;B;B;B	0.31009	0.04;0.303;0.082;0.12	B;B;B;B	0.30105	0.111;0.109;0.036;0.053	T	0.64322	-0.6435	10	0.21014	T	0.42	-16.656	18.7072	0.91643	0.0:0.0:1.0:0.0	.	136;165;205;165	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	K	205;136;165;165;136;91	ENSP00000393946:E136K;ENSP00000282587:E165K;ENSP00000440678:E136K	ENSP00000282587:E165K	E	+	1	0	SLC30A6	32272553	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	8.175000	0.89684	2.715000	0.92844	0.655000	0.94253	GAA		0.313	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2				27	187	0	0	0	0.004656	0	27	187		
BIRC6	57448	broad.mit.edu	37	2	32740283	32740283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:32740283G>A	ENST00000421745.2	+	55	10929	c.10795G>A	c.(10795-10797)Gca>Aca	p.A3599T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3599					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A3571T(1)|p.A3599T(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTAAAAATGCACAAGCACC	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10795-10797)GCA>ACA		baculoviral IAP repeat-containing 6							120.0	120.0	120.0					2																	32740283		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740283G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10795G>A	2.37:g.32740283G>A	ENSP00000393596:p.Ala3599Thr						p.A3599T	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	10929	+	Acute lymphoblastic leukemia(172;0.155)		3599					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10795G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559619	0.65538	.	.	ENSG00000115760	ENST00000421745	T	0.75367	-0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	L	0.42245	1.32	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.82971	-0.0192	10	0.54805	T	0.06	.	19.7934	0.96469	0.0:0.0:1.0:0.0	.	3599	Q9NR09	BIRC6_HUMAN	T	3599	ENSP00000393596:A3599T	ENSP00000393596:A3599T	A	+	1	0	BIRC6	32593787	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.624000	0.98398	2.678000	0.91216	0.585000	0.79938	GCA		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		12	104	0	0	0	0.013537	0	12	104		
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423																																						uc002rox.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(289-291)CGT>AGT		RAS guanyl releasing protein 3 (calcium and							258.0	252.0	254.0					2																	33745672		1894	4112	6006	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745672C>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.289C>A	2.37:g.33745672C>A	ENSP00000384192:p.Arg97Ser					RASGRP3_uc010ync.1_Missense_Mutation_p.R97S|RASGRP3_uc002roy.2_Missense_Mutation_p.R97S	p.R97S	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			7	916	+	all_hematologic(175;0.115)		97			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.289C>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486860	0.63962	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.187977	0.48767	D	0.000170	T	0.44008	0.1273	L	0.33485	1.01	0.43698	D	0.996152	P;P	0.38048	0.616;0.616	P;P	0.44597	0.454;0.454	T	0.11991	-1.0565	10	0.33141	T	0.24	-7.3146	20.1218	0.97964	0.0:1.0:0.0:0.0	.	97;97	D6W583;Q8IV61	.;GRP3_HUMAN	S	97	ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S	ENSP00000385886:R97S	R	+	1	0	RASGRP3	33599176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.883000	0.48554	2.763000	0.94921	0.561000	0.74099	CGT		0.423	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2		NM_015376		65	333	1	0	5.10652e-33	0.01441	5.4203e-33	65	333		
GALM	130589	broad.mit.edu	37	2	38893363	38893363	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:38893363G>A	ENST00000272252.5	+	1	312	c.60G>A	c.(58-60)gaG>gaA	p.E20E	GALM_ENST00000410063.1_Silent_p.E20E|AC074366.3_ENST00000446277.1_RNA	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	20					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.E20E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GGACAGTGGAGAAGTTCCAGC	0.597																																						uc002rqy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(58-60)GAG>GAA		galactose mutarotase							80.0	68.0	72.0					2																	38893363		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38893363G>A		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.60G>A	2.37:g.38893363G>A							p.E20E	NM_138801	NP_620156	Q96C23	GALM_HUMAN			1	312	+		all_hematologic(82;0.248)	20					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.60G>A	CCDS1797.1																																																																																				0.597	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801		16	45	0	0	0	0.003163	0	16	45		
DHX57	90957	broad.mit.edu	37	2	39042771	39042771	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:39042771G>A	ENST00000295373.6	-	20	3624	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1166							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F1166F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACAGTTCCGTGAATTGTCGTT	0.443																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|skin(1)	3						c.(3496-3498)TTC>TTT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							142.0	134.0	137.0					2																	39042771		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39042771G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3498C>T	2.37:g.39042771G>A						DHX57_uc002rrd.3_Silent_p.F550F|DHX57_uc002rre.2_Silent_p.F599F	p.F1166F	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			20	3597	-		all_hematologic(82;0.248)	1166					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.3498C>T	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	6.995	0.553674	0.13374	.	.	ENSG00000163214	ENST00000452978	.	.	.	5.29	4.42	0.53409	.	.	.	.	.	T	0.60011	0.2236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57763	-0.7755	4	.	.	.	.	9.6622	0.39962	0.2183:0.0:0.7817:0.0	.	.	.	.	Y	490	.	.	H	-	1	0	DHX57	38896275	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	3.395000	0.52558	1.355000	0.45865	0.563000	0.77884	CAC		0.443	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2		NM_145646		46	116	0	0	0	0.01441	0	46	116		
THADA	63892	broad.mit.edu	37	2	43458299	43458299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:43458299G>A	ENST00000405006.4	-	38	6001	c.5650C>T	c.(5650-5652)Cag>Tag	p.Q1884*	THADA_ENST00000415080.2_Nonsense_Mutation_p.Q1565*|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Nonsense_Mutation_p.Q1884*|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1884								p.Q1884*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTGAAGAACTGAGACAGGAGG	0.532																																						uc002rsw.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(5650-5652)CAG>TAG		thyroid adenoma associated							42.0	42.0	42.0					2																	43458299		1998	4188	6186	SO:0001587	stop_gained	63892						binding	g.chr2:43458299G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5650C>T	2.37:g.43458299G>A	ENSP00000385995:p.Gln1884*					THADA_uc010far.2_Nonsense_Mutation_p.Q1079*|THADA_uc002rsx.3_Nonsense_Mutation_p.Q1884*|THADA_uc002rsy.3_RNA	p.Q1884*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			38	6002	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1884					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	ENST00000405006.4	37	c.5650C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	39	7.688038	0.98434	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.	.	.	5.08	4.18	0.49190	.	0.331667	0.28595	N	0.014789	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-30.2103	15.282	0.73794	0.0:0.1409:0.8591:0.0	.	.	.	.	X	1884;1811;1565;1884	.	ENSP00000349464:Q1811X	Q	-	1	0	THADA	43311803	0.991000	0.36638	0.930000	0.37139	0.919000	0.55068	2.562000	0.45914	1.076000	0.40961	0.655000	0.94253	CAG		0.532	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3		NM_022065		12	28	0	0	0	0.013537	0	12	28		
TTC7A	57217	broad.mit.edu	37	2	47249004	47249004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:47249004G>A	ENST00000319190.5	+	12	1764	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	TTC7A_ENST00000409245.1_Missense_Mutation_p.E432K|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.E112K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E466K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	466					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.E466K(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTTGCAGCTAGAGGAAGCAGA	0.562																																						uc002rvo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|skin(1)	2						c.(1396-1398)GAG>AAG		tetratricopeptide repeat domain 7A							115.0	111.0	112.0					2																	47249004		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47249004G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1396G>A	2.37:g.47249004G>A	ENSP00000316699:p.Glu466Lys					TTC7A_uc002rvm.2_Missense_Mutation_p.E432K|TTC7A_uc002rvn.1_Missense_Mutation_p.E347K|TTC7A_uc010fbb.2_Missense_Mutation_p.E466K|TTC7A_uc010fbc.2_Missense_Mutation_p.E112K|TTC7A_uc002rvp.2_Missense_Mutation_p.E347K|TTC7A_uc002rvq.2_Missense_Mutation_p.E206K|TTC7A_uc002rvr.2_Intron	p.E466K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		12	1764	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	466					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1396G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.911950	0.72983	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.35421	1.73;1.74;1.31;1.34	5.63	4.76	0.60689	Tetratricopeptide-like helical (1);	0.103843	0.64402	D	0.000005	T	0.47210	0.1433	M	0.72894	2.215	0.80722	D	1	P;P;B;B;P	0.42375	0.615;0.533;0.412;0.355;0.778	B;B;B;B;P	0.47573	0.32;0.222;0.134;0.1;0.55	T	0.47661	-0.9100	10	0.46703	T	0.11	-16.9963	13.769	0.63012	0.0755:0.0:0.9245:0.0	.	466;432;466;294;432	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	K	432;466;466;112;293	ENSP00000386307:E432K;ENSP00000316699:E466K;ENSP00000378320:E466K;ENSP00000263737:E112K	ENSP00000263737:E112K	E	+	1	0	TTC7A	47102508	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.952000	0.63618	1.393000	0.46605	0.563000	0.77884	GAG		0.562	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2		XM_372927		38	99	0	0	0	0.004878	0	38	99		
XPO1	7514	broad.mit.edu	37	2	61710158	61710158	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:61710158G>C	ENST00000401558.2	-	22	3473	c.2746C>G	c.(2746-2748)Caa>Gaa	p.Q916E	XPO1_ENST00000406957.1_Missense_Mutation_p.Q916E|XPO1_ENST00000404992.2_Missense_Mutation_p.Q916E|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	916					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.Q916E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAATAAGTTTGATAAAAACTC	0.333			Mis		CLL																																	uc002sbj.2		NaN	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(2746-2748)CAA>GAA		exportin 1							84.0	92.0	89.0					2																	61710158		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61710158G>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2746C>G	2.37:g.61710158G>C	ENSP00000384863:p.Gln916Glu					XPO1_uc010fcl.2_Missense_Mutation_p.Q912E|XPO1_uc010ypn.1_Missense_Mutation_p.Q912E|XPO1_uc002sbk.2_Missense_Mutation_p.Q477E|XPO1_uc002sbg.2_Missense_Mutation_p.Q113E|XPO1_uc002sbh.2_Missense_Mutation_p.Q563E	p.Q916E	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		22	3474	-			916			HEAT 8.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.2746C>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882879	0.72410	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66460	-0.21;-0.21;-0.21	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.76170	2.325	0.80722	D	1	P;P	0.46621	0.806;0.881	B;B	0.36030	0.216;0.216	T	0.68876	-0.5293	10	0.33141	T	0.24	-11.4478	20.3754	0.98918	0.0:0.0:1.0:0.0	.	563;916	B3KWD0;O14980	.;XPO1_HUMAN	E	916	ENSP00000384863:Q916E;ENSP00000385942:Q916E;ENSP00000385559:Q916E	ENSP00000384863:Q916E	Q	-	1	0	XPO1	61563662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.894000	0.99253	0.591000	0.81541	CAA		0.333	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3		NM_003400		39	97	0	0	0	0.005524	0	39	97		
PELI1	57162	broad.mit.edu	37	2	64335432	64335432	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:64335432C>T	ENST00000358912.4	-	2	455	c.13G>A	c.(13-15)Gat>Aat	p.D5N	PELI1_ENST00000466177.2_5'UTR	NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	5					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D5N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TTTTCTTGATCAGGAGAAAAC	0.383																																						uc002scs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(13-15)GAT>AAT		pellino protein							192.0	180.0	184.0					2																	64335432		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64335432C>T		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.13G>A	2.37:g.64335432C>T	ENSP00000351789:p.Asp5Asn					PELI1_uc002sct.3_Missense_Mutation_p.D5N|PELI1_uc002scu.1_5'Flank	p.D5N	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			1	4052	-			5					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.13G>A	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642095	0.67244	.	.	ENSG00000197329	ENST00000358912	T	0.44881	0.91	5.48	5.48	0.80851	.	0.144295	0.64402	D	0.000005	T	0.24314	0.0589	N	0.02539	-0.55	0.54753	D	0.999986	B	0.23185	0.081	B	0.25506	0.061	T	0.11227	-1.0596	10	0.33940	T	0.23	.	19.7055	0.96070	0.0:1.0:0.0:0.0	.	5	Q96FA3	PELI1_HUMAN	N	5	ENSP00000351789:D5N	ENSP00000351789:D5N	D	-	1	0	PELI1	64188936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.389000	0.66255	2.738000	0.93877	0.655000	0.94253	GAT		0.383	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1		NM_020651		72	177	0	0	0	0.01441	0	72	177		
NAGK	55577	broad.mit.edu	37	2	71298938	71298938	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:71298938C>T	ENST00000244204.6	+	4	398	c.336C>T	c.(334-336)atC>atT	p.I112I	NAGK_ENST00000443938.2_Silent_p.I112I|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000418807.3_Silent_p.I61I|NAGK_ENST00000455662.2_Silent_p.I158I|NAGK_ENST00000443872.2_Intron			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	112					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.I112I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CCGGCTCCATCGCCACAGCTA	0.547																																						uc002shp.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(334-336)ATC>ATT		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						52.0	48.0	50.0					2																	71298938		2203	4300	6503	SO:0001819	synonymous_variant	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71298938C>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.336C>T	2.37:g.71298938C>T						NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_Silent_p.I61I	p.I112I	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			4	742	+			112					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Silent	SNP	ENST00000244204.6	37	c.336C>T		.	.	.	.	.	.	.	.	.	.	C	10.66	1.411883	0.25465	.	.	ENSG00000124357	ENST00000443938	.	.	.	4.61	1.73	0.24493	.	.	.	.	.	T	0.51550	0.1681	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37150	-0.9718	4	.	.	.	-9.0317	4.9852	0.14187	0.0:0.4759:0.3355:0.1886	.	.	.	.	L	134	.	.	S	+	2	0	NAGK	71152446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.863000	0.27913	0.250000	0.21479	0.462000	0.41574	TCG		0.547	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1				3	42	0	0	0	0.009096	0	3	42		
CCDC142	84865	broad.mit.edu	37	2	74708006	74708006	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:74708006G>A	ENST00000393965.3	-	5	1789	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Silent_p.L458L|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000410003.1_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	465								p.L458L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCATGCAACAGAGGCTTTGGG	0.572																																						uc002slr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1393-1395)CTG>TTG		coiled-coil domain containing 142							72.0	68.0	69.0					2																	74708006		2203	4300	6503	SO:0001819	synonymous_variant	84865							g.chr2:74708006G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1393C>T	2.37:g.74708006G>A						TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L458L|CCDC142_uc002slp.2_Silent_p.L465L	p.L465L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN			5	1786	-			465					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37	c.1393C>T																																																																																					0.572	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1		NM_032779		39	100	0	0	0	0.00623	0	39	100		
LRRTM1	347730	broad.mit.edu	37	2	80529640	80529640	+	Silent	SNP	G	G	A	rs200058924		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:80529640G>A	ENST00000295057.3	-	2	1961	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L435L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	435					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L435L(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGAGAAGATGAGGGCCATGG	0.622										HNSCC(69;0.2)																												uc002sok.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1303-1305)CTC>CTT		leucine rich repeat transmembrane neuronal 1							99.0	86.0	90.0					2																	80529640		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529640G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1305C>T	2.37:g.80529640G>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.L435L	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1575	-			435			Helical; (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1305C>T	CCDS1966.1																																																																																				0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		20	45	0	0	0	0.010504	0	20	45		
TRABD2A	129293	broad.mit.edu	37	2	85097505	85097505	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85097505C>T	ENST00000409520.2	-	2	555	c.513G>A	c.(511-513)atG>atA	p.M171I	TRABD2A_ENST00000409133.1_Missense_Mutation_p.M171I|TRABD2A_ENST00000335459.5_Missense_Mutation_p.M171I	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	171					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.M171I(2)									GGGAGTTGACCATGAGCATCA	0.582																																						uc010ysl.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(511-513)ATG>ATA		hypothetical protein LOC129293 precursor							117.0	123.0	121.0					2																	85097505		2127	4261	6388	SO:0001583	missense	129293					integral to membrane		g.chr2:85097505C>T	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.513G>A	2.37:g.85097505C>T	ENSP00000387075:p.Met171Ile					C2orf89_uc002sou.3_Missense_Mutation_p.M171I|C2orf89_uc010fgc.1_Missense_Mutation_p.M171I	p.M171I	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			2	602	-			171			Extracellular (Potential).		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.513G>A		.	.	.	.	.	.	.	.	.	.	C	17.10	3.302287	0.60195	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.09630	2.96;2.96;2.96	3.14	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	.	.	.	0.44555	D	0.997514	P;P;D	0.58970	0.925;0.883;0.984	D;P;P	0.67900	0.954;0.718;0.752	T	0.02126	-1.1209	9	0.48119	T	0.1	.	11.7361	0.51765	0.0:1.0:0.0:0.0	.	171;171;171	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	I	171	ENSP00000335004:M171I;ENSP00000387075:M171I;ENSP00000387183:M171I	ENSP00000335004:M171I	M	-	3	0	C2orf89	84951016	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	6.028000	0.70889	1.599000	0.50093	0.462000	0.41574	ATG		0.582	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001080824		54	135	0	0	0	0.01441	0	54	135		
GGCX	2677	broad.mit.edu	37	2	85777223	85777223	+	Missense_Mutation	SNP	C	C	T	rs377362868		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85777223C>T	ENST00000233838.4	-	15	2191	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.R647Q	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	704					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.R704Q(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TATCAGATTTCGAAGTGAGAT	0.463																																						uc002sps.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2110-2112)CGA>CAA		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	57.0	58.0		2111,1940	5.3	1.0	2		58	0,8600		0,0,4300	no	missense,missense	GGCX	NM_000821.5,NM_001142269.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	704/759,647/702	85777223	1,13005	2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777223C>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2111G>A	2.37:g.85777223C>T	ENSP00000233838:p.Arg704Gln					GGCX_uc010yss.1_Missense_Mutation_p.R520Q|GGCX_uc010yst.1_Missense_Mutation_p.R647Q	p.R704Q	NM_000821	NP_000812	P38435	VKGC_HUMAN			15	2217	-			704			Lumenal (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.2111G>A	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507881	0.96386	2.27E-4	0.0	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.30981	1.51;1.51	6.15	5.28	0.74379	.	0.055817	0.64402	D	0.000004	T	0.53818	0.1820	M	0.72118	2.19	0.51233	D	0.999917	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.992;0.997	T	0.54925	-0.8220	10	0.46703	T	0.11	-6.8244	13.4426	0.61123	0.0:0.9248:0.0:0.0752	.	647;520;704	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	Q	704;647	ENSP00000233838:R704Q;ENSP00000408045:R647Q	ENSP00000233838:R704Q	R	-	2	0	GGCX	85630734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.721000	0.74728	1.622000	0.50330	0.643000	0.83706	CGA		0.463	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3		NM_000821		21	77	0	0	0	0.003954	0	21	77		
USP39	10713	broad.mit.edu	37	2	85857963	85857963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:85857963G>A	ENST00000323701.6	+	6	853	c.843G>A	c.(841-843)atG>atA	p.M281I	USP39_ENST00000450066.2_Missense_Mutation_p.M178I|USP39_ENST00000409766.3_Missense_Mutation_p.M281I|USP39_ENST00000409025.1_Missense_Mutation_p.M281I|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.M281I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	281	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)	p.M281I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAGAGCTGATGAGAAAGCTCT	0.448																																						uc002sqe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(841-843)ATG>ATA		ubiquitin specific protease 39							155.0	156.0	155.0					2																	85857963		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85857963G>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.843G>A	2.37:g.85857963G>A	ENSP00000312981:p.Met281Ile					USP39_uc002sqb.2_Missense_Mutation_p.M12I|USP39_uc010ysu.1_Missense_Mutation_p.M203I|USP39_uc010ysv.1_Missense_Mutation_p.M178I|USP39_uc010fgn.1_Missense_Mutation_p.M281I|USP39_uc002sqf.2_Missense_Mutation_p.M281I|USP39_uc002sqg.2_Missense_Mutation_p.M281I|USP39_uc010fgo.2_Missense_Mutation_p.M281I	p.M281I	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN			6	879	+			281					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.843G>A	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754895	0.31046	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.97	5.97	0.96955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	N	0.01729	-0.75	0.80722	D	1	B;B;B;B;B;B	0.18610	0.015;0.002;0.012;0.029;0.015;0.009	B;B;B;B;B;B	0.18871	0.017;0.004;0.007;0.023;0.013;0.007	T	0.17837	-1.0356	10	0.02654	T	1	-3.5886	17.9074	0.88923	0.0:0.0:1.0:0.0	.	178;203;281;281;281;281	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	I	178;281;281;281;281;281	ENSP00000396133:M178I;ENSP00000386572:M281I;ENSP00000386864:M281I;ENSP00000312981:M281I;ENSP00000386803:M281I	ENSP00000312981:M281I	M	+	3	0	USP39	85711474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.347000	0.97059	2.835000	0.97688	0.591000	0.81541	ATG		0.448	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1		NM_006590		89	216	0	0	0	0.01441	0	89	216		
CD8A	925	broad.mit.edu	37	2	87017667	87017667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:87017667C>T	ENST00000409511.2	-	5	1217	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	CD8A_ENST00000283635.3_Missense_Mutation_p.A63T|CD8A_ENST00000456996.2_Missense_Mutation_p.A63T|CD8A_ENST00000538832.1_Missense_Mutation_p.A104T|CD8A_ENST00000352580.3_Missense_Mutation_p.A63T|CD8A_ENST00000409781.1_Missense_Mutation_p.A63T	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	63	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.A63T(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CTGGCGGCGGCGCCGCGCGGC	0.672																																						uc002srt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(187-189)GCC>ACC		CD8 antigen alpha polypeptide isoform 1							33.0	42.0	39.0					2																	87017667		2202	4297	6499	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017667C>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.187G>A	2.37:g.87017667C>T	ENSP00000386559:p.Ala63Thr					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.A63T|CD8A_uc010ytn.1_Missense_Mutation_p.A104T|CD8A_uc002sru.2_Missense_Mutation_p.A63T	p.A63T	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1076	-			63			Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.187G>A	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263922	0.23136	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	4.69	-5.46	0.02608	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.239640	0.05674	N	0.589171	T	0.23492	0.0568	N	0.05280	-0.08	0.09310	N	1	B;B;B	0.15930	0.015;0.0;0.004	B;B;B	0.04013	0.001;0.0;0.001	T	0.12319	-1.0552	10	0.15499	T	0.54	-0.9954	4.3031	0.10933	0.0855:0.3614:0.3402:0.2129	.	104;63;63	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	T	63;63;63;63;63;104;63	ENSP00000398868:A63T;ENSP00000321631:A63T;ENSP00000283635:A63T;ENSP00000386559:A63T;ENSP00000438371:A104T;ENSP00000387314:A63T	ENSP00000283635:A63T	A	-	1	0	CD8A	86871178	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.152000	0.03172	-1.610000	0.01583	-3.289000	0.00047	GCC		0.672	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3		NM_001768		23	36	0	0	0	0.014323	0	23	36		
ZNF514	84874	broad.mit.edu	37	2	95815496	95815496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:95815496G>A	ENST00000295208.2	-	5	1196	c.734C>T	c.(733-735)tCa>tTa	p.S245L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S245L|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S245L(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AATAAGGGATGAAATATGACC	0.458																																						uc002sue.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(733-735)TCA>TTA		zinc finger protein 514							121.0	128.0	126.0					2																	95815496		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815496G>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.734C>T	2.37:g.95815496G>A	ENSP00000295208:p.Ser245Leu					ZNF514_uc002sud.1_Missense_Mutation_p.S318L	p.S245L	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1108	-			245			C2H2-type 2.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.734C>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384071	0.61845	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000542127	T;T	0.36520	1.25;1.25	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43100	0.1232	M	0.79343	2.45	0.09310	N	1	D;B	0.54964	0.969;0.064	P;B	0.47603	0.551;0.104	T	0.41215	-0.9521	9	0.66056	D	0.02	.	6.3718	0.21485	0.1331:0.0:0.8669:0.0	.	245;64	Q96K75;Q658L7	ZN514_HUMAN;.	L	245;245;30	ENSP00000295208:S245L;ENSP00000405509:S245L	ENSP00000295208:S245L	S	-	2	0	ZNF514	95179223	0.175000	0.23083	0.938000	0.37757	0.993000	0.82548	1.261000	0.32980	2.065000	0.61736	0.655000	0.94253	TCA		0.458	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1		NM_032788		78	172	0	0	0	0.01441	0	78	172		
ITPRIPL1	150771	broad.mit.edu	37	2	96992597	96992597	+	Nonsense_Mutation	SNP	G	G	A	rs201297775		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:96992597G>A	ENST00000439118.2	+	3	479	c.228G>A	c.(226-228)tgG>tgA	p.W76*	ITPRIPL1_ENST00000536814.1_Nonsense_Mutation_p.W68*|ITPRIPL1_ENST00000361124.4_Nonsense_Mutation_p.W84*|ITPRIPL1_ENST00000542887.1_Nonsense_Mutation_p.W68*	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	76						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.W84*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAACTTCTGGACAGGAGACA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19804	0.0		0.001	False		,,,				2504	0.0					uc002svx.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(226-228)TGG>TGA		inositol 1,4,5-triphosphate receptor interacting							96.0	101.0	99.0					2																	96992597		2203	4300	6503	SO:0001587	stop_gained	150771					integral to membrane		g.chr2:96992597G>A		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.228G>A	2.37:g.96992597G>A	ENSP00000389308:p.Trp76*					ITPRIPL1_uc010yuk.1_Nonsense_Mutation_p.W68*|ITPRIPL1_uc002svy.2_Nonsense_Mutation_p.W84*|ITPRIPL1_uc010yul.1_Nonsense_Mutation_p.W68*	p.W76*	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	563	+			76			Extracellular (Potential).		F5H1L8|Q8NE61	Nonsense_Mutation	SNP	ENST00000439118.2	37	c.228G>A	CCDS46360.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	35|35	5.483183|5.483183	0.96307|0.96307	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420728|ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.30791	.|N	.|0.008871	T|.	0.68622|.	0.3021|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66280|.	-0.5963|.	4|.	.|0.33940	.|T	.|0.23	-8.7959|-8.7959	14.0412|14.0412	0.64676|0.64676	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	108|68;68;76;84;68	.|.	.|ENSP00000355121:W84X	G|W	+|+	2|3	0|0	ITPRIPL1|ITPRIPL1	96356324|96356324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	1.617000|1.617000	0.36943|0.36943	2.470000|2.470000	0.83445|0.83445	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.577	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1		NM_178495		32	77	0	0	0	0.012213	0	32	77		
ARID5A	10865	broad.mit.edu	37	2	97217382	97217382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:97217382G>C	ENST00000357485.3	+	7	1195	c.1117G>C	c.(1117-1119)Ggg>Cgg	p.G373R	ARID5A_ENST00000454558.2_Missense_Mutation_p.G305R	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	373					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G373R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGTGCTATTGGGGCCTCCTGG	0.587																																						uc002swe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1117-1119)GGG>CGG		AT rich interactive domain 5A							18.0	19.0	19.0					2																	97217382		2203	4299	6502	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217382G>C	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1117G>C	2.37:g.97217382G>C	ENSP00000350078:p.Gly373Arg					ARID5A_uc010yuq.1_Missense_Mutation_p.G321R|ARID5A_uc002swf.2_Missense_Mutation_p.G209R|ARID5A_uc002swg.2_Missense_Mutation_p.G321R	p.G373R	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			7	1217	+			373					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.1117G>C	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636800	0.29068	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.62639	0.01	5.05	4.17	0.49024	.	0.723248	0.12765	N	0.441001	T	0.52041	0.1710	L	0.50919	1.6	0.23657	N	0.997182	P;B;B	0.42409	0.779;0.049;0.289	B;B;B	0.37480	0.251;0.026;0.094	T	0.32955	-0.9887	10	0.23302	T	0.38	-19.3875	9.126	0.36816	0.1011:0.0:0.8989:0.0	.	373;305;373	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	R	373;373;305	ENSP00000350078:G373R	ENSP00000350078:G373R	G	+	1	0	ARID5A	96581109	0.838000	0.29461	0.487000	0.27428	0.237000	0.25408	1.902000	0.39848	1.113000	0.41760	0.655000	0.94253	GGG		0.587	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2		NM_212481		8	22	0	0	0	0.004482	0	8	22		
FER1L5	90342	broad.mit.edu	37	2	97365766	97365766	+	RNA	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:97365766G>A	ENST00000457909.1	+	0	4382							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1654K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GTTCAGTCCTGAGGAAGATGC	0.527																																						uc010fia.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(4960-4962)GAG>AAG		fer-1-like 5 isoform 2							45.0	47.0	47.0					2																	97365766		1907	4128	6035			90342					integral to membrane		g.chr2:97365766G>A	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365766G>A						FER1L5_uc002sws.3_Missense_Mutation_p.E372K|FER1L5_uc002swt.3_Missense_Mutation_p.E372K|FER1L5_uc010yus.1_Missense_Mutation_p.E371K	p.E1654K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			43	4960	+			1654					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.4960G>A		.	.	.	.	.	.	.	.	.	.	G	1.287	-0.608614	0.03717	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.19	2.25	0.28309	.	0.178583	0.25848	U	0.027905	T	0.30885	0.0779	L	0.31476	0.935	.	.	.	P;P;P	0.49559	0.877;0.877;0.925	B;B;P	0.47162	0.339;0.339;0.54	T	0.35674	-0.9779	8	0.19590	T	0.45	-14.1274	7.3621	0.26752	0.159:0.1389:0.7022:0.0	.	371;1654;372	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	K	1654;1667;372	.	ENSP00000442027:E372K	E	+	1	0	FER1L5	96729493	0.619000	0.27059	0.088000	0.20740	0.094000	0.18550	1.247000	0.32815	0.591000	0.29711	-0.136000	0.14681	GAG		0.527	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1		NM_001077400		26	50	0	0	0	0.007291	0	26	50		
COX5B	1329	broad.mit.edu	37	2	98263594	98263594	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:98263594G>A	ENST00000258424.2	+	2	215	c.168G>A	c.(166-168)aaG>aaA	p.K56K	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	56					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)	p.K56K(1)		endometrium(1)|lung(1)|urinary_tract(1)	3						TGGCTGCAAAGAAGGGACTGG	0.483																																						uc002sya.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(166-168)AAG>AAA		cytochrome c oxidase subunit Vb precursor							199.0	187.0	191.0					2																	98263594		2203	4300	6503	SO:0001819	synonymous_variant	1329				respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	g.chr2:98263594G>A	BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.168G>A	2.37:g.98263594G>A							p.K56K	NM_001862	NP_001853	P10606	COX5B_HUMAN			2	197	+			56					Q53YB7|Q96J18|Q99610	Silent	SNP	ENST00000258424.2	37	c.168G>A	CCDS2032.1																																																																																				0.483	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252972.2		NM_001862		26	73	0	0	0	0.004656	0	26	73		
RPL31	6160	broad.mit.edu	37	2	101622467	101622467	+	Missense_Mutation	SNP	G	G	A	rs11551487		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622467G>A	ENST00000264258.3	+	4	881	c.280G>A	c.(280-282)Gag>Aag	p.E94K	RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409320.3_Missense_Mutation_p.E94K|RPL31_ENST00000409038.1_Missense_Mutation_p.E94K|RPL31_ENST00000409028.4_Missense_Mutation_p.E94K|RPL31_ENST00000409733.1_Missense_Mutation_p.E94K|RPL31_ENST00000409650.1_Missense_Mutation_p.E94K	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	94					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)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E94K(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AAAACGTAATGAGGATGAAGA	0.388																																						uc002taq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(280-282)GAG>AAG		ribosomal protein L31 isoform 1							64.0	61.0	62.0					2																	101622467		2203	4300	6503	SO:0001583	missense	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101622467G>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.280G>A	2.37:g.101622467G>A	ENSP00000264258:p.Glu94Lys					RPL31_uc002tar.3_Missense_Mutation_p.E94K|RPL31_uc010yvu.1_Missense_Mutation_p.E94K|RPL31_uc010yvv.1_Missense_Mutation_p.E94K|RPL31_uc010fiu.1_Missense_Mutation_p.E94K|RPL31_uc002tas.1_Missense_Mutation_p.E94K|RPL31_uc002tat.1_3'UTR	p.E94K	NM_000993	NP_000984	P62899	RL31_HUMAN			4	367	+			94					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	c.280G>A	CCDS2049.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968520|3.968520	0.74131|0.74131	.|.	.|.	ENSG00000071082|ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292|ENST00000441435	.|.	.|.	.|.	5.14|5.14	4.27|4.27	0.50696|0.50696	Ribosomal protein L31e domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.69495|0.69495	0.3117|0.3117	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.28713|.	0.183;0.22;0.059;0.089;0.02|.	B;B;B;B;B|.	0.39590|.	0.304;0.185;0.1;0.1;0.047|.	T|T	0.68985|0.68985	-0.5265|-0.5265	9|5	0.48119|.	T|.	0.1|.	.|.	13.926|13.926	0.63964|0.63964	0.073:0.0:0.927:0.0|0.073:0.0:0.927:0.0	.|.	94;94;94;94;94|.	B7Z4E3;B7Z4C8;B7Z4K2;Q6IRZ0;P62899|.	.;.;.;.;RL31_HUMAN|.	K|I	94|81	.|.	ENSP00000264258:E94K|.	E|M	+|+	1|3	0|0	RPL31|RPL31	100988899|100988899	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.995000|0.995000	0.86356|0.86356	9.448000|9.448000	0.97600|0.97600	1.392000|1.392000	0.46585|0.46585	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.388	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3		NM_001098577		7	68	0	0	0	0.003163	0	7	68		
RPL31	6160	broad.mit.edu	37	2	101622473	101622473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622473G>A	ENST00000264258.3	+	4	887	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409320.3_Missense_Mutation_p.E96K|RPL31_ENST00000409038.1_Missense_Mutation_p.E96K|RPL31_ENST00000409028.4_Missense_Mutation_p.E96K|RPL31_ENST00000409733.1_Missense_Mutation_p.E96K|RPL31_ENST00000409650.1_Missense_Mutation_p.E96K	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	96					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)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E96K(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						TAATGAGGATGAAGATTCACC	0.378																																						uc002taq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(286-288)GAA>AAA		ribosomal protein L31 isoform 1							63.0	60.0	61.0					2																	101622473		2203	4300	6503	SO:0001583	missense	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101622473G>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.286G>A	2.37:g.101622473G>A	ENSP00000264258:p.Glu96Lys					RPL31_uc002tar.3_Missense_Mutation_p.E96K|RPL31_uc010yvu.1_Missense_Mutation_p.E96K|RPL31_uc010yvv.1_Missense_Mutation_p.E96K|RPL31_uc010fiu.1_Missense_Mutation_p.E96K|RPL31_uc002tas.1_Missense_Mutation_p.E96K|RPL31_uc002tat.1_3'UTR	p.E96K	NM_000993	NP_000984	P62899	RL31_HUMAN			4	373	+			96					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	c.286G>A	CCDS2049.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437469|5.437469	0.96168|0.96168	.|.	.|.	ENSG00000071082|ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292|ENST00000441435	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Ribosomal protein L31e domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.82802|0.82802	0.5116|0.5116	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	P;D;D;P;B|.	0.76494|.	0.805;0.999;0.981;0.805;0.076|.	P;D;P;P;B|.	0.75484|.	0.586;0.986;0.771;0.543;0.106|.	D|D	0.84265|0.84265	0.0485|0.0485	9|5	0.56958|.	D|.	0.05|.	.|.	18.8133|18.8133	0.92068|0.92068	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;96;96;96;96|.	B7Z4E3;B7Z4C8;B7Z4K2;Q6IRZ0;P62899|.	.;.;.;.;RL31_HUMAN|.	K|I	96|83	.|.	ENSP00000264258:E96K|.	E|M	+|+	1|3	0|0	RPL31|RPL31	100988905|100988905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.448000|9.448000	0.97600|0.97600	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.378	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3		NM_001098577		5	67	0	0	0	0.001855	0	5	67		
RPL31	6160	broad.mit.edu	37	2	101622476	101622476	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:101622476G>A	ENST00000264258.3	+	4	890	c.289G>A	c.(289-291)Gat>Aat	p.D97N	RPL31_ENST00000409711.1_3'UTR|RPL31_ENST00000409320.3_Missense_Mutation_p.D97N|RPL31_ENST00000409038.1_Missense_Mutation_p.D97N|RPL31_ENST00000409028.4_Missense_Mutation_p.D97N|RPL31_ENST00000409733.1_Missense_Mutation_p.D97N|RPL31_ENST00000409650.1_Missense_Mutation_p.D97N	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	97					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)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.D97N(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						TGAGGATGAAGATTCACCAAA	0.368																																						uc002taq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(289-291)GAT>AAT		ribosomal protein L31 isoform 1							64.0	61.0	62.0					2																	101622476		2203	4298	6501	SO:0001583	missense	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101622476G>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.289G>A	2.37:g.101622476G>A	ENSP00000264258:p.Asp97Asn					RPL31_uc002tar.3_Missense_Mutation_p.D97N|RPL31_uc010yvu.1_Missense_Mutation_p.D97N|RPL31_uc010yvv.1_Missense_Mutation_p.D97N|RPL31_uc010fiu.1_Missense_Mutation_p.D97N|RPL31_uc002tas.1_Missense_Mutation_p.D97N|RPL31_uc002tat.1_3'UTR	p.D97N	NM_000993	NP_000984	P62899	RL31_HUMAN			4	376	+			97					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	c.289G>A	CCDS2049.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512560	0.85389	.	.	ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292	.	.	.	5.14	5.14	0.70334	Ribosomal protein L31e domain (2);	0.000000	0.85682	U	0.000000	T	0.78629	0.4313	M	0.85462	2.755	0.80722	D	1	B;B;B;B;B	0.34181	0.184;0.426;0.44;0.085;0.062	B;B;P;B;B	0.44673	0.171;0.393;0.457;0.257;0.072	T	0.78984	-0.1988	9	0.45353	T	0.12	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	97;97;97;97;97	B7Z4E3;B7Z4C8;B7Z4K2;Q6IRZ0;P62899	.;.;.;.;RL31_HUMAN	N	97	.	ENSP00000264258:D97N	D	+	1	0	RPL31	100988908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.448000	0.97600	2.667000	0.90743	0.563000	0.77884	GAT		0.368	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3		NM_001098577		5	70	0	0	0	0.010729	0	5	70		
IL18RAP	8807	broad.mit.edu	37	2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103068411C>T	ENST00000264260.2	+	12	2159	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P382S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	524	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P524S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418																																						uc002tbx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(1570-1572)CCT>TCT		interleukin 18 receptor accessory protein							114.0	120.0	118.0					2																	103068411		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068411C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1570C>T	2.37:g.103068411C>T	ENSP00000264260:p.Pro524Ser					IL18RAP_uc010fiz.2_Missense_Mutation_p.P382S	p.P524S	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	2054	+			524			TIR.|Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1570C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724158	0.89298	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09255	3.0;3.0	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.42426	0.1202	M	0.87180	2.865	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.26360	-1.0105	10	0.52906	T	0.07	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	524	O95256	I18RA_HUMAN	S	524;382	ENSP00000264260:P524S;ENSP00000387201:P382S	ENSP00000264260:P524S	P	+	1	0	IL18RAP	102434843	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.677000	0.68142	2.857000	0.98124	0.650000	0.86243	CCT		0.418	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		81	174	0	0	0	0.01441	0	81	174		
IL18RAP	8807	broad.mit.edu	37	2	103068499	103068499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103068499C>A	ENST00000264260.2	+	12	2247	c.1658C>A	c.(1657-1659)gCc>gAc	p.A553D	IL18RAP_ENST00000409369.1_Missense_Mutation_p.A411D	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	553	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A553D(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGGTTCTGGGCCAAAATGCGC	0.463																																						uc002tbx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(1657-1659)GCC>GAC		interleukin 18 receptor accessory protein							134.0	146.0	142.0					2																	103068499		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068499C>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1658C>A	2.37:g.103068499C>A	ENSP00000264260:p.Ala553Asp					IL18RAP_uc010fiz.2_Missense_Mutation_p.A411D	p.A553D	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	2142	+			553			TIR.|Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1658C>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065198	0.20067	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.08370	3.1;3.1	6.02	2.91	0.33838	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.507122	0.20887	N	0.083884	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	0.999999	B	0.15719	0.014	B	0.18871	0.023	T	0.29941	-0.9995	10	0.48119	T	0.1	.	8.1602	0.31194	0.3453:0.3533:0.3014:0.0	.	553	O95256	I18RA_HUMAN	D	553;411	ENSP00000264260:A553D;ENSP00000387201:A411D	ENSP00000264260:A553D	A	+	2	0	IL18RAP	102434931	0.764000	0.28473	0.780000	0.31762	0.077000	0.17291	1.307000	0.33516	1.506000	0.48736	0.650000	0.86243	GCC		0.463	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		77	171	1	0	5.72124e-26	0.01441	6.04366e-26	77	171		
SLC9A2	6549	broad.mit.edu	37	2	103236427	103236427	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:103236427G>A	ENST00000233969.2	+	1	262	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	40					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.P40P(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGAACGCGCCGAGGGCCATGG	0.711																																						uc002tca.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(118-120)CCG>CCA		solute carrier family 9 (sodium/hydrogen							24.0	25.0	24.0					2																	103236427		2201	4298	6499	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103236427G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.120G>A	2.37:g.103236427G>A							p.P40P	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			1	262	+			40			Cytoplasmic (Potential).		B2RMS2	Silent	SNP	ENST00000233969.2	37	c.120G>A	CCDS2062.1																																																																																				0.711	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2				4	15	0	0	0	0.009096	0	4	15		
GCC2	9648	broad.mit.edu	37	2	109111783	109111783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:109111783G>C	ENST00000309863.6	+	20	5198	c.4484G>C	c.(4483-4485)cGa>cCa	p.R1495P		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1495					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.R1495P(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAACCTTCGAGAAAGGAGA	0.433																																						uc002tec.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(4483-4485)CGA>CCA		GRIP and coiled-coil domain-containing 2							14.0	18.0	17.0					2																	109111783		1265	2238	3503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109111783G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4484G>C	2.37:g.109111783G>C	ENSP00000307939:p.Arg1495Pro					GCC2_uc002ted.2_Missense_Mutation_p.R1394P	p.R1495P	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			20	4638	+			1495			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4484G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134240	0.77662	.	.	ENSG00000135968	ENST00000309863	T	0.34472	1.36	5.51	5.51	0.81932	.	0.325101	0.29087	N	0.013181	T	0.45756	0.1358	M	0.68317	2.08	0.47183	D	0.999348	P	0.43169	0.8	B	0.42771	0.397	T	0.48043	-0.9069	10	0.59425	D	0.04	.	19.7843	0.96430	0.0:0.0:1.0:0.0	.	1495	Q8IWJ2	GCC2_HUMAN	P	1495	ENSP00000307939:R1495P	ENSP00000307939:R1495P	R	+	2	0	GCC2	108478215	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.686000	0.68211	2.753000	0.94483	0.555000	0.69702	CGA		0.433	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		15	50	0	0	0	0.003163	0	15	50		
RANBP2	5903	broad.mit.edu	37	2	109398587	109398587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:109398587G>A	ENST00000283195.6	+	27	8890	c.8764G>A	c.(8764-8766)Gaa>Aaa	p.E2922K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2922	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E2922K(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTATAGGTAGAAGTAAAATC	0.353																																						uc002tem.3		NaN																RANBP2/ALK(16)	2	Substitution - Missense(2)		urinary_tract(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(8764-8766)GAA>AAA		RAN binding protein 2							41.0	45.0	44.0					2																	109398587		2198	4299	6497	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109398587G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8764G>A	2.37:g.109398587G>A	ENSP00000283195:p.Glu2922Lys						p.E2922K	NM_006267	NP_006258	P49792	RBP2_HUMAN			27	8890	+			2922			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8764G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945113	0.92593	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.54866	0.55	5.23	5.23	0.72850	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.75481	0.3855	M	0.81682	2.555	0.46927	D	0.999256	D	0.89917	1.0	D	0.87578	0.998	T	0.78628	-0.2130	9	0.72032	D	0.01	-15.9155	19.1604	0.93529	0.0:0.0:1.0:0.0	.	2922	P49792	RBP2_HUMAN	K	1946;2922	ENSP00000283195:E2922K	ENSP00000283195:E2922K	E	+	1	0	RANBP2	108765019	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.813000	0.99286	2.599000	0.87857	0.655000	0.94253	GAA		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		12	88	0	0	0	0.013537	0	12	88		
ACOXL	55289	broad.mit.edu	37	2	111691109	111691109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:111691109G>A	ENST00000389811.4	+	12	1173	c.949G>A	c.(949-951)Gag>Aag	p.E317K	ACOXL_ENST00000439055.1_Missense_Mutation_p.E317K			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	317					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.E317K(2)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCAGGGAAAGGAGCTGGTCAA	0.612																																						uc002tgr.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(949-951)GAG>AAG		acyl-Coenzyme A oxidase-like 2							61.0	58.0	59.0					2																	111691109		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111691109G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.949G>A	2.37:g.111691109G>A	ENSP00000374461:p.Glu317Lys					ACOXL_uc010fkc.2_Missense_Mutation_p.E317K|ACOXL_uc010yxk.1_Missense_Mutation_p.E317K	p.E317K	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			12	1173	+			317					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.949G>A		.	.	.	.	.	.	.	.	.	.	G	12.96	2.093007	0.36952	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.69926	-0.44;-0.44;-0.44	5.46	5.46	0.80206	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.325656	0.25863	N	0.027808	T	0.52125	0.1715	N	0.11651	0.15	0.80722	D	1	P;P;B	0.36354	0.549;0.493;0.001	B;B;B	0.38378	0.272;0.116;0.007	T	0.58002	-0.7713	10	0.48119	T	0.1	-2.2625	16.7999	0.85611	0.0:0.0:1.0:0.0	.	317;317;317	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	K	317;317;168;155	ENSP00000374461:E317K;ENSP00000407761:E317K;ENSP00000387832:E155K	ENSP00000374461:E317K	E	+	1	0	ACOXL	111407580	1.000000	0.71417	0.815000	0.32552	0.276000	0.26787	5.957000	0.70323	2.583000	0.87209	0.491000	0.48974	GAG		0.612	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2		NM_018308		7	56	0	0	0	0.001984	0	7	56		
ANAPC1	64682	broad.mit.edu	37	2	112592358	112592358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112592358G>A	ENST00000341068.3	-	19	2979	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	736					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S736L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTTCATCTGTGAAGCTTCTGA	0.383																																						uc002thi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(2206-2208)TCA>TTA		anaphase promoting complex subunit 1							19.0	20.0	19.0					2																	112592358		2166	4240	6406	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112592358G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2207C>T	2.37:g.112592358G>A	ENSP00000339109:p.Ser736Leu						p.S736L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			19	2454	-			736					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2207C>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127862	0.20959	.	.	ENSG00000153107	ENST00000341068	T	0.30981	1.51	5.16	5.16	0.70880	.	1.107810	0.07204	U	0.857992	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.06494	T	0.89	-0.7199	6.3923	0.21593	0.1511:0.0:0.6961:0.1529	.	736	Q9H1A4	APC1_HUMAN	L	736	ENSP00000339109:S736L	ENSP00000339109:S736L	S	-	2	0	ANAPC1	112308829	0.001000	0.12720	0.019000	0.16419	0.884000	0.51177	1.169000	0.31871	2.424000	0.82194	0.558000	0.71614	TCA		0.383	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662		16	70	0	0	0	0.004007	0	16	70		
MERTK	10461	broad.mit.edu	37	2	112733015	112733015	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112733015G>A	ENST00000295408.4	+	7	1367	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	MERTK_ENST00000409780.1_Silent_p.V194V|MERTK_ENST00000421804.2_Silent_p.V370V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	370	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V370V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGTCTGCAGTGAGCCCTTGGA	0.483																																						uc002thk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1108-1110)GTG>GTA		MER receptor tyrosine kinase precursor							123.0	119.0	120.0					2																	112733015		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112733015G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1110G>A	2.37:g.112733015G>A						MERTK_uc002thl.1_Silent_p.V194V	p.V370V	NM_006343	NP_006334	Q12866	MERTK_HUMAN			7	1232	+			370			Fibronectin type-III 1.|Extracellular (Potential).		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.1110G>A	CCDS2094.1																																																																																				0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				43	97	0	0	0	0.013114	0	43	97		
MERTK	10461	broad.mit.edu	37	2	112779055	112779055	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:112779055A>G	ENST00000295408.4	+	17	2503	c.2246A>G	c.(2245-2247)tAc>tGc	p.Y749C	MERTK_ENST00000409780.1_Missense_Mutation_p.Y573C|MERTK_ENST00000421804.2_Missense_Mutation_p.Y749C			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	749	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y749C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAGAAGATTTACAGTGGCGAT	0.483																																						uc002thk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2245-2247)TAC>TGC		MER receptor tyrosine kinase precursor							151.0	145.0	147.0					2																	112779055		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779055A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2246A>G	2.37:g.112779055A>G	ENSP00000295408:p.Tyr749Cys					MERTK_uc002thl.1_Missense_Mutation_p.Y573C	p.Y749C	NM_006343	NP_006334	Q12866	MERTK_HUMAN			17	2368	+			749			Protein kinase.|Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2246A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336231	0.81801	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30820	U	0.008815	D	0.91415	0.7291	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92714	0.6185	10	0.87932	D	0	-23.5206	15.2998	0.73940	1.0:0.0:0.0:0.0	.	749	Q12866	MERTK_HUMAN	C	749;749;385;573;73	ENSP00000295408:Y749C;ENSP00000389152:Y749C;ENSP00000387277:Y573C;ENSP00000412660:Y73C	ENSP00000295408:Y749C	Y	+	2	0	MERTK	112495526	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.139000	0.94554	2.200000	0.70718	0.460000	0.39030	TAC		0.483	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				42	122	0	0	0	0.011902	0	42	122		
SLC20A1	6574	broad.mit.edu	37	2	113417182	113417183	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:113417182_113417183GT>TC	ENST00000272542.3	+	8	1989_1990	c.1450_1451GT>TC	c.(1450-1452)GTc>TCc	p.V484S		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	484					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.V484A(1)|p.V484F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGACATGAGTGTCAAGGCAGAG	0.465																																						uc002tib.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1450-1452)GTC>TCC		solute carrier family 20 (phosphate																																				SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417182_113417183GT>TC		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	Exception_encountered	2.37:g.113417182_113417183delinsTC	ENSP00000272542:p.Val484Ser					SLC20A1_uc002tic.1_Missense_Mutation_p.V296S	p.V484S	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			8	1896_1897	+			484			Cytoplasmic (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	DNP	ENST00000272542.3	37	c.1450_1451GT>TC	CCDS2099.1																																																																																				0.465	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2		NM_005415		89	221	0	0	0	0.004672	0	89	221		
PSD4	23550	broad.mit.edu	37	2	113941019	113941019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:113941019C>G	ENST00000245796.6	+	2	1181	c.986C>G	c.(985-987)tCc>tGc	p.S329C	PSD4_ENST00000441564.3_Missense_Mutation_p.S329C	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	329					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.S329C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACACTCCATCTGCTGG	0.617																																						uc002tjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(985-987)TCC>TGC		pleckstrin and Sec7 domain containing 4							47.0	43.0	45.0					2																	113941019		2203	4296	6499	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113941019C>G	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.986C>G	2.37:g.113941019C>G	ENSP00000245796:p.Ser329Cys					PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.S328C|PSD4_uc002tjf.2_5'Flank	p.S329C	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	1169	+			329					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.986C>G	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695262	0.48202	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10573	2.86;2.86	4.45	1.31	0.21738	.	0.652897	0.15363	N	0.266274	T	0.08802	0.0218	N	0.24115	0.695	0.09310	N	0.999991	D;D	0.58620	0.979;0.983	P;B	0.50192	0.634;0.431	T	0.22034	-1.0228	9	.	.	.	.	4.2267	0.10584	0.4094:0.4771:0.0:0.1135	.	329;329	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	C	329	ENSP00000245796:S329C;ENSP00000413997:S329C	.	S	+	2	0	PSD4	113657490	0.093000	0.21703	0.236000	0.24074	0.019000	0.09904	0.313000	0.19415	0.925000	0.37094	0.655000	0.94253	TCC		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455		6	44	0	0	0	0.001984	0	6	44		
CFAP221	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A	rs570868554	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:120413990G>A	ENST00000413369.3	+	24	2554	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	PCDP1_ENST00000602047.1_Missense_Mutation_p.E537K	NM_001271049.1	NP_001257978												p.E537K(1)				Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473																																						uc002tmb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1609-1611)GAG>AAG		primary ciliary dyskinesia protein 1							104.0	102.0	103.0					2																	120413990		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120413990G>A																												ENST00000413369.3:c.2467G>A	2.37:g.120413990G>A	ENSP00000393222:p.Glu823Lys						p.E537K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			25	2701	+	Colorectal(110;0.196)		823						Missense_Mutation	SNP	ENST00000413369.3	37	c.1609G>A	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089859	0.08632	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.29397	1.57	4.68	2.75	0.32379	.	0.203527	0.34411	N	0.003996	T	0.17916	0.0430	L	0.27053	0.805	0.80722	D	1	B	0.24368	0.102	B	0.17979	0.02	T	0.06285	-1.0835	10	0.42905	T	0.14	-28.901	6.097	0.20025	0.1017:0.1899:0.7084:0.0	.	823	Q4G0U5	PCDP1_HUMAN	K	537;823	ENSP00000393222:E823K	ENSP00000295220:E537K	E	+	1	0	AC069154.2	120130460	0.959000	0.32827	0.862000	0.33874	0.052000	0.14988	1.643000	0.37217	1.336000	0.45506	-0.244000	0.11960	GAG		0.473	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1				7	40	0	0	0	0.004482	0	7	40		
PTPN4	5775	broad.mit.edu	37	2	120709702	120709702	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:120709702A>T	ENST00000263708.2	+	19	2581	c.1810A>T	c.(1810-1812)Aat>Tat	p.N604Y	PTPN4_ENST00000544261.1_Missense_Mutation_p.N237Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	604					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.N604Y(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTTCGACCTAATGGTGAGTA	0.393																																						uc002tmf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1810-1812)AAT>TAT		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						135.0	127.0	130.0					2																	120709702		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120709702A>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1810A>T	2.37:g.120709702A>T	ENSP00000263708:p.Asn604Tyr					PTPN4_uc010flj.1_Missense_Mutation_p.N317Y|PTPN4_uc010yyr.1_Missense_Mutation_p.N237Y	p.N604Y	NM_002830	NP_002821	P29074	PTN4_HUMAN			19	2581	+			604					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1810A>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958951	0.74016	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.72725	-0.68;2.87	6.07	4.93	0.64822	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.67953	2.075	0.54753	D	0.999984	D	0.67145	0.996	D	0.63877	0.919	T	0.81247	-0.1019	10	0.62326	D	0.03	.	12.1265	0.53920	0.9336:0.0:0.0664:0.0	.	604	P29074	PTN4_HUMAN	Y	604;237	ENSP00000263708:N604Y;ENSP00000445841:N237Y	ENSP00000263708:N604Y	N	+	1	0	PTPN4	120426172	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.179000	0.77665	1.125000	0.41998	0.533000	0.62120	AAT		0.393	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				19	142	0	0	0	0.006122	0	19	142		
SAP130	79595	broad.mit.edu	37	2	128750795	128750795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:128750795G>C	ENST00000259235.3	-	12	1650	c.1521C>G	c.(1519-1521)atC>atG	p.I507M	SAP130_ENST00000357702.5_Missense_Mutation_p.I507M|SAP130_ENST00000259234.6_Missense_Mutation_p.I481M	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	507					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.I507M(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGGAACTGGTGATTGGGGTGT	0.453																																						uc002tpp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(2)	4						c.(1519-1521)ATC>ATG		Sin3A-associated protein, 130kDa isoform b							151.0	141.0	144.0					2																	128750795		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128750795G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1521C>G	2.37:g.128750795G>C	ENSP00000259235:p.Ile507Met					SAP130_uc002tpn.2_Missense_Mutation_p.I268M|SAP130_uc002tpo.2_Missense_Mutation_p.I252M|SAP130_uc010fmd.2_Missense_Mutation_p.I507M|SAP130_uc002tpq.1_Missense_Mutation_p.I480M	p.I507M	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	12	1653	-	Colorectal(110;0.1)		507					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1521C>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221268	0.39201	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.55	3.73	0.42828	.	0.089566	0.85682	D	0.000000	T	0.38295	0.1035	N	0.20986	0.625	0.51012	D	0.999901	P;B;B;P;B	0.47106	0.865;0.25;0.103;0.89;0.01	P;B;B;P;B	0.49853	0.521;0.045;0.045;0.624;0.019	T	0.13548	-1.0505	9	0.41790	T	0.15	-14.8839	6.0323	0.19686	0.2788:0.1278:0.5934:0.0	.	507;480;507;37;145	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	M	507;507;481	.	ENSP00000259234:I481M	I	-	3	3	SAP130	128467265	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.357000	0.44125	0.687000	0.31509	0.655000	0.94253	ATC		0.453	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3		NM_024545		32	107	0	0	0	0.013726	0	32	107		
R3HDM1	23518	broad.mit.edu	37	2	136389328	136389328	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:136389328G>C	ENST00000264160.4	+	8	908	c.538G>C	c.(538-540)Gat>Cat	p.D180H	R3HDM1_ENST00000409478.1_Missense_Mutation_p.D136H|R3HDM1_ENST00000329971.3_Missense_Mutation_p.D136H|R3HDM1_ENST00000409606.1_Missense_Mutation_p.D180H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.D124H	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	180	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.						poly(A) RNA binding (GO:0044822)	p.D180H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGAAATTTTAGATTTCATTGG	0.323																																						uc002tuo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(538-540)GAT>CAT		R3H domain containing 1							98.0	99.0	98.0					2																	136389328		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136389328G>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.538G>C	2.37:g.136389328G>C	ENSP00000264160:p.Asp180His					R3HDM1_uc010fni.2_Missense_Mutation_p.D178H|R3HDM1_uc002tup.2_Missense_Mutation_p.D124H|R3HDM1_uc010zbh.1_Missense_Mutation_p.D12H	p.D180H	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	8	908	+			180			R3H.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.538G>C	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776965|4.776965	0.90195|0.90195	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000456040	T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Single-stranded nucleic acid binding R3H (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76941|.	0.4058|.	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.991;0.999;1.0;1.0|.	P;D;D;D|.	0.91635|.	0.873;0.997;0.999;0.999|.	T|.	0.74262|.	-0.3722|.	10|.	0.62326|.	D|.	0.03|.	-13.3659|-13.3659	20.1606|20.1606	0.98132|0.98132	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136;180;124;180|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	H|Y	136;136;180;136;124;180|162	ENSP00000386457:D136H;ENSP00000264160:D180H;ENSP00000331396:D136H;ENSP00000386877:D124H;ENSP00000387010:D180H|.	ENSP00000264160:D180H|.	D|X	+|+	1|3	0|2	R3HDM1|R3HDM1	136105798|136105798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.772000|2.772000	0.95346|0.95346	0.650000|0.650000	0.86243|0.86243	GAT|TAG		0.323	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1		NM_015361		30	43	0	0	0	0.009535	0	30	43		
DARS	1615	broad.mit.edu	37	2	136682034	136682034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:136682034G>A	ENST00000264161.4	-	8	814	c.599C>T	c.(598-600)tCt>tTt	p.S200F	DARS_ENST00000537273.1_Missense_Mutation_p.S100F	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	200					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S200F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCAGATGCCAGACTGGAGACG	0.358																																						uc002tux.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(598-600)TCT>TTT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						53.0	58.0	56.0					2																	136682034		2202	4300	6502	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136682034G>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.599C>T	2.37:g.136682034G>A	ENSP00000264161:p.Ser200Phe					DARS_uc010fnj.1_Missense_Mutation_p.S100F	p.S200F	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	8	783	-			200					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.599C>T	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333999	0.95758	.	.	ENSG00000115866	ENST00000264161;ENST00000537273;ENST00000441323;ENST00000456565	T;T;D;T	0.86627	0.68;0.68;-2.15;0.68	5.84	5.84	0.93424	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	H	0.97390	3.995	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.97181	0.9851	10	0.87932	D	0	-12.7837	20.1454	0.98074	0.0:0.0:1.0:0.0	.	200	P14868	SYDC_HUMAN	F	200;100;167;167	ENSP00000264161:S200F;ENSP00000444192:S100F;ENSP00000389867:S167F;ENSP00000397616:S167F	ENSP00000264161:S200F	S	-	2	0	DARS	136398504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.748000	0.94277	0.650000	0.86243	TCT		0.358	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5		NM_001349		26	36	0	0	0	0.005443	0	26	36		
NMI	9111	broad.mit.edu	37	2	152127234	152127234	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:152127234T>C	ENST00000243346.5	-	8	1367	c.897A>G	c.(895-897)caA>caG	p.Q299Q		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	299					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)	p.Q299Q(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CTATGTGAGGTTGACCTAGAG	0.348																																						uc002txi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(895-897)CAA>CAG		N-myc and STAT interactor							175.0	164.0	167.0					2																	152127234		2203	4300	6503	SO:0001819	synonymous_variant	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152127234T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.897A>G	2.37:g.152127234T>C							p.Q299Q	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	8	1227	-			299					B5BU69|Q53TI8|Q9BVE5	Silent	SNP	ENST00000243346.5	37	c.897A>G	CCDS2192.1																																																																																				0.348	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2		NM_004688		50	82	0	0	0	0.01441	0	50	82		
RIF1	55183	broad.mit.edu	37	2	152293454	152293454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:152293454C>T	ENST00000243326.5	+	11	1792	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	RIF1_ENST00000430328.2_Missense_Mutation_p.H437Y|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000453091.2_Missense_Mutation_p.H437Y|RIF1_ENST00000444746.2_Missense_Mutation_p.H437Y|RIF1_ENST00000428287.2_Missense_Mutation_p.H437Y			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.H437Y(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGTTGCTTCATTTCTTGTT	0.398																																						uc002txm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(1309-1311)CAT>TAT		RAP1 interacting factor 1							62.0	59.0	60.0					2																	152293454		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293454C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1309C>T	2.37:g.152293454C>T	ENSP00000243326:p.His437Tyr					RIF1_uc002txl.2_Missense_Mutation_p.H437Y|RIF1_uc010fnv.1_Missense_Mutation_p.H401Y|RIF1_uc002txn.2_Missense_Mutation_p.H437Y|RIF1_uc002txo.2_Missense_Mutation_p.H437Y|RIF1_uc010zby.1_RNA	p.H437Y	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	12	1439	+			437					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1309C>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.685782|4.685782	0.88639|0.88639	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.19669|.	2.13;2.14;2.14;2.13;2.14|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75598|0.75598	0.3871|0.3871	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|T	0.72849|0.72849	-0.4168|-0.4168	10|5	0.87932|.	D|.	0|.	-15.293|-15.293	19.5731|19.5731	0.95430|0.95430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	437;437|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	Y|L	437|428	ENSP00000390181:H437Y;ENSP00000414615:H437Y;ENSP00000415691:H437Y;ENSP00000243326:H437Y;ENSP00000416123:H437Y|.	ENSP00000243326:H437Y|.	H|S	+|+	1|2	0|0	RIF1|RIF1	152001700|152001700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	6.977000|6.977000	0.76141|0.76141	2.733000|2.733000	0.93635|0.93635	0.557000|0.557000	0.71058|0.71058	CAT|TCA		0.398	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3				14	54	0	0	0	0.003163	0	14	54		
KCNH7	90134	broad.mit.edu	37	2	163236516	163236516	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:163236516C>T	ENST00000332142.5	-	14	3077	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	993					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R993Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTCCCAGCTTCGCATGTCAGT	0.488																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(2977-2979)CGA>CAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						157.0	142.0	147.0					2																	163236516		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163236516C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2978G>A	2.37:g.163236516C>T	ENSP00000331727:p.Arg993Gln						p.R993Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			14	3190	-			993			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2978G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520163	0.27211	.	.	ENSG00000184611	ENST00000332142	D	0.98493	-4.96	5.97	4.09	0.47781	.	0.458418	0.26311	N	0.025114	D	0.92466	0.7608	N	0.08118	0	0.21897	N	0.99949	B	0.02656	0.0	B	0.01281	0.0	T	0.82184	-0.0583	10	0.11485	T	0.65	.	9.5971	0.39580	0.0:0.8218:0.0:0.1782	.	993	Q9NS40	KCNH7_HUMAN	Q	993	ENSP00000331727:R993Q	ENSP00000331727:R993Q	R	-	2	0	KCNH7	162944762	0.072000	0.21174	0.011000	0.14972	0.008000	0.06430	1.116000	0.31221	0.762000	0.33152	-0.229000	0.12294	CGA		0.488	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272		77	87	0	0	0	0.01441	0	77	87		
XIRP2	129446	broad.mit.edu	37	2	168105892	168105892	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:168105892A>G	ENST00000409195.1	+	9	8079	c.7990A>G	c.(7990-7992)Agg>Ggg	p.R2664G	XIRP2_ENST00000295237.9_Missense_Mutation_p.R2664G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2442G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2489					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R2664G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAAAGCTCAAGGGACATTAT	0.408																																						uc002udx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7990-7992)AGG>GGG		xin actin-binding repeat containing 2 isoform 1							54.0	53.0	54.0					2																	168105892		1880	4089	5969	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105892A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7990A>G	2.37:g.168105892A>G	ENSP00000386840:p.Arg2664Gly					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2489G|XIRP2_uc010fpq.2_Missense_Mutation_p.R2442G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R10G	p.R2664G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8008	+			2489					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7990A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486859	0.26686	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02944	4.1;4.1;4.11	6.07	0.823	0.18812	.	0.886673	0.10030	N	0.724913	T	0.03263	0.0095	L	0.47716	1.5	0.09310	N	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.09377	0.001;0.003;0.004	T	0.42716	-0.9435	10	0.39692	T	0.17	-0.0221	6.1074	0.20081	0.4443:0.4083:0.1474:0.0	.	2489;2489;2442	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	2664;2664;2442;78	ENSP00000386840:R2664G;ENSP00000295237:R2664G;ENSP00000387255:R2442G	ENSP00000295237:R2664G	R	+	1	2	XIRP2	167814138	0.000000	0.05858	0.003000	0.11579	0.751000	0.42716	-0.328000	0.07945	-0.078000	0.12730	0.533000	0.62120	AGG		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		26	58	0	0	0	0.00333	0	26	58		
XIRP2	129446	broad.mit.edu	37	2	168106305	168106305	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:168106305C>T	ENST00000409195.1	+	9	8492	c.8403C>T	c.(8401-8403)ccC>ccT	p.P2801P	XIRP2_ENST00000295237.9_Silent_p.P2801P|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2579P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2626					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.P2801P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATGGTTCCCAGGAAGCAAA	0.403																																						uc002udx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8401-8403)CCC>CCT		xin actin-binding repeat containing 2 isoform 1							70.0	68.0	69.0					2																	168106305		1863	4104	5967	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106305C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8403C>T	2.37:g.168106305C>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2626P|XIRP2_uc010fpq.2_Silent_p.P2579P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.P147P	p.P2801P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8421	+			2626					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.8403C>T	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		12	62	0	0	0	0.013537	0	12	62		
CHN1	1123	broad.mit.edu	37	2	175742603	175742603	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:175742603C>A	ENST00000409900.3	-	6	827	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.D172Y	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	172					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.D172Y(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTGTAGAATCTCTCTCATCA	0.398			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NaN		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(514-516)GAT>TAT		chimerin (chimaerin) 1 isoform a							118.0	110.0	113.0					2																	175742603		1873	4106	5979	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175742603C>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.514G>T	2.37:g.175742603C>A	ENSP00000386741:p.Asp172Tyr					CHN1_uc010zeq.1_Missense_Mutation_p.D172Y|CHN1_uc002ujj.2_Intron	p.D172Y	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		6	1044	-			172					A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.514G>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226660	0.39300	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.71341	-0.56;-0.09	5.82	4.03	0.46877	.	0.421699	0.27622	N	0.018542	T	0.50769	0.1635	N	0.08118	0	0.34988	D	0.754738	B;B	0.09022	0.002;0.002	B;B	0.15484	0.013;0.013	T	0.55611	-0.8114	10	0.62326	D	0.03	.	11.5686	0.50820	0.0:0.856:0.0:0.144	.	172;172	B4DV19;P15882	.;CHIN_HUMAN	Y	172	ENSP00000386741:D172Y;ENSP00000386470:D172Y	ENSP00000386470:D172Y	D	-	1	0	CHN1	175450849	1.000000	0.71417	0.908000	0.35775	0.974000	0.67602	4.077000	0.57598	0.795000	0.33922	0.655000	0.94253	GAT		0.398	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1		NM_001822		21	82	1	0	8.10497e-08	0.010504	8.35144e-08	21	82		
TTN	7273	broad.mit.edu	37	2	179399128	179399128	+	Missense_Mutation	SNP	A	A	G	rs375159973		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179399128A>G	ENST00000591111.1	-	308	97515	c.97291T>C	c.(97291-97293)Tgg>Cgg	p.W32431R	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W25007R|TTN_ENST00000589042.1_Missense_Mutation_p.W34072R|TTN_ENST00000342992.6_Missense_Mutation_p.W31504R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W25199R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W25132R|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.W25007R(1)|p.W31504R(1)|p.W25132R(1)|p.W31502R(1)|p.W25199R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTCAACCATGGGTGCTGG	0.428																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94510-94512)TGG>CGG		titin isoform N2-A		A	ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP	0,3870		0,0,1935	127.0	127.0	127.0		75019,94510,75394,75595	5.9	1.0	2		127	1,8283		0,1,4141	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	101,101,101,101	0,1,6076	GG,GA,AA		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25007/26927,31504/33424,25132/27052,25199/27119	179399128	1,12153	1935	4142	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399128A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97291T>C	2.37:g.179399128A>G	ENSP00000465570:p.Trp32431Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W25199R|TTN_uc010zfi.1_Missense_Mutation_p.W25132R|TTN_uc010zfj.1_Missense_Mutation_p.W25007R	p.W31504R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94734	-			32431					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94510T>C		.	.	.	.	.	.	.	.	.	.	A	16.23	3.065026	0.55432	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88295	0.6398	H	0.97491	4.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.92224	0.5787	9	0.87932	D	0	.	15.2787	0.73764	1.0:0.0:0.0:0.0	.	25007;25132;25199;32431	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	31504;25007;25199;25132;25004	ENSP00000343764:W31504R;ENSP00000434586:W25007R;ENSP00000340554:W25199R;ENSP00000352154:W25132R	ENSP00000340554:W25199R	W	-	1	0	TTN	179107374	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.309000	0.96252	2.250000	0.74265	0.454000	0.30748	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		36	73	0	0	0	0.00623	0	36	73		
TTN	7273	broad.mit.edu	37	2	179401935	179401935	+	Missense_Mutation	SNP	C	C	T	rs72648278		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179401935C>T	ENST00000591111.1	-	306	95202	c.94978G>A	c.(94978-94980)Gaa>Aaa	p.E31660K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24236K|TTN_ENST00000589042.1_Missense_Mutation_p.E33301K|TTN_ENST00000342992.6_Missense_Mutation_p.E30733K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24428K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24361K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31660	Fibronectin type-III 130. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E24236K(1)|p.E30731K(1)|p.E30733K(1)|p.E24428K(1)|p.E24361K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAGAGCTTCGATCACAATT	0.428																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(92197-92199)GAA>AAA		titin isoform N2-A		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3718		0,0,1859	70.0	65.0	67.0		72706,92197,73081,73282	5.7	1.0	2	dbSNP_130	67	5,8195		0,5,4095	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,56,56,56	0,5,5954	TT,TC,CC		0.061,0.0,0.042	probably-damaging,probably-damaging,probably-damaging,probably-damaging	24236/26927,30733/33424,24361/27052,24428/27119	179401935	5,11913	1859	4100	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401935C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94978G>A	2.37:g.179401935C>T	ENSP00000465570:p.Glu31660Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24428K|TTN_uc010zfi.1_Missense_Mutation_p.E24361K|TTN_uc010zfj.1_Missense_Mutation_p.E24236K	p.E30733K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		305	92421	-			31660					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.92197G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302998	0.81136	0.0	6.1E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60064	0.2240	L	0.28649	0.875	0.53005	D	0.999964	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	P;P;P;P	0.51895	0.683;0.683;0.683;0.683	T	0.64011	-0.6507	9	0.87932	D	0	.	19.7135	0.96105	0.0:1.0:0.0:0.0	.	24236;24361;24428;31660	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	30733;24236;24428;24361;24233	ENSP00000343764:E30733K;ENSP00000434586:E24236K;ENSP00000340554:E24428K;ENSP00000352154:E24361K	ENSP00000340554:E24428K	E	-	1	0	TTN	179110181	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.818000	0.86416	2.660000	0.90430	0.563000	0.77884	GAA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		4	30	0	0	0	0.000602	0	4	30		
TTN	7273	broad.mit.edu	37	2	179464127	179464127	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179464127G>A	ENST00000591111.1	-	240	51694	c.51470C>T	c.(51469-51471)tCa>tTa	p.S17157L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9733L|TTN_ENST00000589042.1_Missense_Mutation_p.S18798L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S16230L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9925L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9858L			Q8WZ42	TITIN_HUMAN	titin	17157	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S16230L(1)|p.S16228L(1)|p.S9858L(1)|p.S9925L(1)|p.S9733L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCTGCTGAAACAGATTC	0.383																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(48688-48690)TCA>TTA		titin isoform N2-A							62.0	58.0	59.0					2																	179464127		1848	4079	5927	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464127G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51470C>T	2.37:g.179464127G>A	ENSP00000465570:p.Ser17157Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9925L|TTN_uc010zfi.1_Missense_Mutation_p.S9858L|TTN_uc010zfj.1_Missense_Mutation_p.S9733L	p.S16230L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	48913	-			17157					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48689C>T		.	.	.	.	.	.	.	.	.	.	G	13.37	2.215661	0.39102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.94	5.94	0.96194	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49592	0.1566	L	0.31926	0.97	0.31254	N	0.693667	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.002;0.002;0.007;0.002	T	0.54337	-0.8309	9	0.87932	D	0	.	13.9689	0.64228	0.0777:0.0:0.9223:0.0	.	9733;9858;9925;17157	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16230;9733;9925;9858;9731	ENSP00000343764:S16230L;ENSP00000434586:S9733L;ENSP00000340554:S9925L;ENSP00000352154:S9858L	ENSP00000340554:S9925L	S	-	2	0	TTN	179172372	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.768000	0.55295	2.820000	0.97059	0.650000	0.86243	TCA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		20	58	0	0	0	0.012319	0	20	58		
TTN	7273	broad.mit.edu	37	2	179604209	179604209	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:179604209C>G	ENST00000591111.1	-	46	13024	c.12800G>C	c.(12799-12801)gGt>gCt	p.G4267A	TTN_ENST00000460472.2_Missense_Mutation_p.G4221A|TTN_ENST00000589042.1_Missense_Mutation_p.G4584A|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4413A|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G4346A			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G4346A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTCAGTACCACTTTCAGA	0.453																																						uc010zfh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13237-13239)GGT>GCT		titin isoform novex-2							122.0	114.0	116.0					2																	179604209		1913	4144	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604209C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12800G>C	2.37:g.179604209C>G	ENSP00000465570:p.Gly4267Ala					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G4346A|TTN_uc010zfj.1_Missense_Mutation_p.G4221A|TTN_uc002umz.1_Intron	p.G4413A	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13462	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13238G>C		.	.	.	.	.	.	.	.	.	.	C	2.376	-0.343123	0.05243	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60548	0.26;0.19;0.18	5.93	0.38	0.16222	.	.	.	.	.	T	0.45538	0.1347	L	0.47716	1.5	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.13407	0.009;0.009;0.009	T	0.44050	-0.9353	9	0.87932	D	0	.	4.1637	0.10296	0.0:0.3517:0.1784:0.4699	.	4221;4346;4413	D3DPF9;E7EQE6;E7ET18	.;.;.	A	4221;4413;4346;4221	ENSP00000434586:G4221A;ENSP00000340554:G4413A;ENSP00000352154:G4346A	ENSP00000340554:G4413A	G	-	2	0	TTN	179312454	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.057000	0.11768	0.125000	0.18397	-0.150000	0.13652	GGT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		46	61	0	0	0	0.01441	0	46	61		
ANKAR	150709	broad.mit.edu	37	2	190559783	190559783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:190559783G>A	ENST00000520309.1	+	6	1472	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.E462K|ANKAR_ENST00000281412.6_Missense_Mutation_p.E226K|ANKAR_ENST00000431575.2_Missense_Mutation_p.E391K|ANKAR_ENST00000438402.2_Missense_Mutation_p.E462K	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	462						integral component of membrane (GO:0016021)		p.E462K(1)|p.E391K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGCCATAAATGAAATAGTGAA	0.318																																						uc002uqw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1171-1173)GAA>AAA		ankyrin and armadillo repeat containing							60.0	61.0	61.0					2																	190559783		2203	4299	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190559783G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1384G>A	2.37:g.190559783G>A	ENSP00000427882:p.Glu462Lys					ANKAR_uc002uqu.2_RNA	p.E391K	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		5	1171	+			462					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1171G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966771	0.53507	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.41758	1.02;1.02;0.99;1.02;1.1	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000044	T	0.46756	0.1409	L	0.36672	1.1	0.33443	D	0.58262	.	.	.	.	.	.	T	0.49244	-0.8960	8	0.26408	T	0.33	-28.0831	19.0887	0.93217	0.0:0.0:1.0:0.0	.	.	.	.	K	462;462;462;391;226	ENSP00000427882:E462K;ENSP00000313513:E462K;ENSP00000397243:E462K;ENSP00000393043:E391K;ENSP00000281412:E226K	ENSP00000281412:E226K	E	+	1	0	ANKAR	190268028	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.983000	0.56916	2.801000	0.96364	0.650000	0.86243	GAA		0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3		NM_144708		33	31	0	0	0	0.005524	0	33	31		
SDPR	8436	broad.mit.edu	37	2	192700708	192700708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192700708C>G	ENST00000304141.4	-	2	1548	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q		NM_004657.5	NP_004648.1			serum deprivation response									p.E407Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCGGAGCGCTCCGCCTCCTCG	0.617																																						uc002utb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1219-1221)GAG>CAG		serum deprivation response protein	Phosphatidylserine(DB00144)						61.0	59.0	60.0					2																	192700708		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700708C>G	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1219G>C	2.37:g.192700708C>G	ENSP00000305675:p.Glu407Gln						p.E407Q	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1549	-			407						Missense_Mutation	SNP	ENST00000304141.4	37	c.1219G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805785	0.90623	.	.	ENSG00000168497	ENST00000304141	T	0.68025	-0.3	5.03	5.03	0.67393	.	0.170188	0.38492	N	0.001669	T	0.72692	0.3492	L	0.27053	0.805	0.53688	D	0.999975	D	0.89917	1.0	D	0.87578	0.998	T	0.74340	-0.3697	10	0.51188	T	0.08	-35.1024	16.7328	0.85439	0.0:1.0:0.0:0.0	.	407	O95810	SDPR_HUMAN	Q	407	ENSP00000305675:E407Q	ENSP00000305675:E407Q	E	-	1	0	SDPR	192408953	0.956000	0.32656	0.341000	0.25589	0.038000	0.13279	3.058000	0.49939	2.631000	0.89168	0.563000	0.77884	GAG		0.617	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2		NM_004657		28	73	0	0	0	0.005443	0	28	73		
SDPR	8436	broad.mit.edu	37	2	192700978	192700978	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192700978C>G	ENST00000304141.4	-	2	1278	c.949G>C	c.(949-951)Gac>Cac	p.D317H		NM_004657.5	NP_004648.1			serum deprivation response									p.D317H(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTAGGCAGGTCTTCTGACTTG	0.552																																						uc002utb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(949-951)GAC>CAC		serum deprivation response protein	Phosphatidylserine(DB00144)						95.0	99.0	98.0					2																	192700978		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700978C>G	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.949G>C	2.37:g.192700978C>G	ENSP00000305675:p.Asp317His						p.D317H	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1279	-			317						Missense_Mutation	SNP	ENST00000304141.4	37	c.949G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904771	0.52333	.	.	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	5.01	5.01	0.66863	.	0.593826	0.18848	N	0.129462	T	0.61887	0.2383	L	0.50333	1.59	0.21579	N	0.999634	P	0.46220	0.874	P	0.46479	0.518	T	0.60073	-0.7334	10	0.66056	D	0.02	-13.7937	11.9204	0.52789	0.0:0.9209:0.0:0.0791	.	317	O95810	SDPR_HUMAN	H	317	ENSP00000305675:D317H	ENSP00000305675:D317H	D	-	1	0	SDPR	192409223	0.739000	0.28196	0.735000	0.30896	0.010000	0.07245	3.475000	0.53136	2.628000	0.89032	0.563000	0.77884	GAC		0.552	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2		NM_004657		74	127	0	0	0	0.01441	0	74	127		
SDPR	8436	broad.mit.edu	37	2	192701111	192701111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192701111C>G	ENST00000304141.4	-	2	1145	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_004657.5	NP_004648.1			serum deprivation response									p.K272N(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGAGAGATTTCTTAATCTTCT	0.458																																						uc002utb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(814-816)AAG>AAC		serum deprivation response protein	Phosphatidylserine(DB00144)						181.0	199.0	193.0					2																	192701111		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701111C>G	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.816G>C	2.37:g.192701111C>G	ENSP00000305675:p.Lys272Asn						p.K272N	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1146	-			272						Missense_Mutation	SNP	ENST00000304141.4	37	c.816G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382785	0.82792	.	.	ENSG00000168497	ENST00000304141	T	0.63096	-0.02	5.01	5.01	0.66863	.	0.052663	0.85682	D	0.000000	T	0.79458	0.4449	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.81854	-0.0741	10	0.87932	D	0	-41.7339	18.5208	0.90951	0.0:1.0:0.0:0.0	.	272	O95810	SDPR_HUMAN	N	272	ENSP00000305675:K272N	ENSP00000305675:K272N	K	-	3	2	SDPR	192409356	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.839000	0.62810	2.628000	0.89032	0.563000	0.77884	AAG		0.458	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2		NM_004657		174	332	0	0	0	0.01441	0	174	332		
PGAP1	80055	broad.mit.edu	37	2	197791211	197791211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:197791211C>T	ENST00000354764.4	-	1	244	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PGAP1_ENST00000409475.1_Missense_Mutation_p.E44K|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	44					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.E44K(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCGGGTACTCAAACATGTAG	0.547																																						uc002utw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(130-132)GAG>AAG		GPI deacylase							200.0	219.0	212.0					2																	197791211		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791211C>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.130G>A	2.37:g.197791211C>T	ENSP00000346809:p.Glu44Lys					PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.E44K|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	p.E44K	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			1	244	-			44			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.130G>A	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106175	0.77096	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.993	P;D	0.70935	0.878;0.971	T	0.76621	-0.2892	9	0.51188	T	0.08	-8.583	13.2964	0.60298	0.0:1.0:0.0:0.0	.	44;44	Q75T13-3;Q75T13	.;PGAP1_HUMAN	K	44	.	ENSP00000346809:E44K	E	-	1	0	PGAP1	197499456	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.241000	0.72369	2.158000	0.67659	0.313000	0.20887	GAG		0.547	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5		NM_024989		179	145	0	0	0	0.01441	0	179	145		
MOB4	25843	broad.mit.edu	37	2	198380840	198380840	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:198380840G>A	ENST00000323303.4	+	1	285	c.30G>A	c.(28-30)ctG>ctA	p.L10L	MOB4_ENST00000409360.1_5'Flank|MOB4_ENST00000409916.1_Intron|HSPE1-MOB4_ENST00000604458.1_Intron|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000233892.4_Intron|MOB4_ENST00000448447.2_Silent_p.L10L	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	10					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L10L(2)									CGGCAGTGCTGAGGCGGAACA	0.687																																						uc002uun.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)		0						c.(28-30)CTG>CTA		Mps One Binder kinase activator-like 3 isoform							41.0	42.0	42.0					2																	198380840		2201	4298	6499	SO:0001819	synonymous_variant	25843				transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding	g.chr2:198380840G>A	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.30G>A	2.37:g.198380840G>A						MOBKL3_uc002uum.3_Intron|MOBKL3_uc010fsn.2_Silent_p.L10L|MOBKL3_uc010fso.2_5'UTR|MOBKL3_uc010zgz.1_5'UTR	p.L10L	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Epithelial(96;0.225)		1	70	+			10					B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Silent	SNP	ENST00000323303.4	37	c.30G>A	CCDS2321.1																																																																																				0.687	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4		NM_015387		4	6	0	0	0	0.009096	0	4	6		
C2orf69	205327	broad.mit.edu	37	2	200790122	200790122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:200790122C>G	ENST00000319974.5	+	2	854	c.671C>G	c.(670-672)tCt>tGt	p.S224C	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	224						extracellular region (GO:0005576)		p.S224C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCCAGTCCTTCTCATACTACG	0.363																																						uc010zhb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(670-672)TCT>TGT		hypothetical protein LOC205327 precursor							56.0	56.0	56.0					2																	200790122		1836	4100	5936	SO:0001583	missense	205327					extracellular region		g.chr2:200790122C>G		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.671C>G	2.37:g.200790122C>G	ENSP00000312770:p.Ser224Cys						p.S224C	NM_153689	NP_710156	Q8N8R5	CB069_HUMAN			2	854	+			224					Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	c.671C>G	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450240	0.43531	.	.	ENSG00000178074	ENST00000319974	.	.	.	4.37	3.48	0.39840	.	0.614216	0.17182	N	0.183857	T	0.56031	0.1958	L	0.48642	1.525	0.35649	D	0.811658	D	0.58620	0.983	P	0.57371	0.819	T	0.63585	-0.6604	9	0.56958	D	0.05	-3.7639	6.435	0.21819	0.1854:0.7127:0.0:0.1019	.	224	Q8N8R5	CB069_HUMAN	C	224	.	ENSP00000312770:S224C	S	+	2	0	C2orf69	200498367	0.959000	0.32827	0.984000	0.44739	0.940000	0.58332	0.369000	0.20416	1.016000	0.39470	0.655000	0.94253	TCT		0.363	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1		NM_153689		43	71	0	0	0	0.007835	0	43	71		
RAPH1	65059	broad.mit.edu	37	2	204324748	204324748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:204324748C>G	ENST00000319170.5	-	7	1273	c.974G>C	c.(973-975)aGa>aCa	p.R325T	RAPH1_ENST00000308091.4_Missense_Mutation_p.R377T|RAPH1_ENST00000418114.1_Missense_Mutation_p.R325T|RAPH1_ENST00000374489.2_Missense_Mutation_p.R352T|RAPH1_ENST00000457812.1_Missense_Mutation_p.R325T|RAPH1_ENST00000423104.1_Missense_Mutation_p.R352T|RAPH1_ENST00000453034.1_Missense_Mutation_p.R377T|RAPH1_ENST00000439222.1_Missense_Mutation_p.R350T|RAPH1_ENST00000419464.1_Missense_Mutation_p.R325T|RAPH1_ENST00000374488.2_Missense_Mutation_p.R350T|RAPH1_ENST00000374493.3_Missense_Mutation_p.R377T	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	325	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R377T(1)|p.R325T(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCAAAGATTCTCTCTGTCCC	0.318																																						uc002vad.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(973-975)AGA>ACA		Ras association and pleckstrin homology domains							83.0	86.0	85.0					2																	204324748		2200	4299	6499	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204324748C>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.974G>C	2.37:g.204324748C>G	ENSP00000316543:p.Arg325Thr					RAPH1_uc002vae.2_Missense_Mutation_p.R377T|RAPH1_uc002vaf.2_Missense_Mutation_p.R377T	p.R325T	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			7	1199	-			325			Ras-associating.		Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.974G>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962605	0.92791	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	D;D;D;D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	6.07	6.07	0.98685	Ras-association (3);	0.000000	0.56097	D	0.000039	D	0.92149	0.7511	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	0.995;0.997;1.0	P;D;D	0.87578	0.853;0.994;0.998	D	0.91964	0.5581	10	0.87932	D	0	-26.2214	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;325	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	T	325;325;377;352;350;377;350;325;352;377;350;325;352	ENSP00000392854:R325T;ENSP00000316543:R325T;ENSP00000363617:R377T;ENSP00000363613:R352T;ENSP00000363612:R350T;ENSP00000311293:R377T;ENSP00000411138:R350T;ENSP00000390578:R325T;ENSP00000397751:R352T;ENSP00000406662:R377T;ENSP00000396711:R325T	ENSP00000311293:R377T	R	-	2	0	RAPH1	204032993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.885000	0.99019	0.655000	0.94253	AGA		0.318	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2		NM_025252		34	69	0	0	0	0.003271	0	34	69		
PLEKHM3	389072	broad.mit.edu	37	2	208795688	208795688	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:208795688G>A	ENST00000427836.2	-	5	2337	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	PLEKHM3_ENST00000457206.1_Silent_p.F616F|PLEKHM3_ENST00000389247.4_Silent_p.F616F	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	616					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.F616F(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGGCAGCTGAACAAATAGG	0.627																																						uc002vcl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(1846-1848)TTC>TTT		pleckstrin homology domain containing, family M,							43.0	50.0	47.0					2																	208795688		1947	4142	6089	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208795688G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1848C>T	2.37:g.208795688G>A						PLEKHM3_uc002vcm.2_Silent_p.F616F	p.F616F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			5	2338	-			616					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1848C>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154876	0.06544	.	.	ENSG00000178385	ENST00000447645	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.262	0.60111	0.0725:0.0:0.9275:0.0	.	.	.	.	X	368	.	.	Q	-	1	0	PLEKHM3	208503933	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	8.003000	0.88520	2.740000	0.93945	0.460000	0.39030	CAG		0.627	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1		NM_001080475		22	20	0	0	0	0.011902	0	22	20		
PLCD4	84812	broad.mit.edu	37	2	219498429	219498429	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:219498429C>T	ENST00000450993.2	+	11	1890	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	PLCD4_ENST00000417849.1_Silent_p.F517F|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Silent_p.F549F	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	517	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.F517F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACTACCACTTCTACGAGATAT	0.502																																						uc002vij.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1549-1551)TTC>TTT		phospholipase C, delta 4							107.0	99.0	102.0					2																	219498429		1924	4144	6068	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219498429C>T	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1551C>T	2.37:g.219498429C>T						PLCD4_uc010zkk.1_Silent_p.F67F	p.F517F	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1746	+		Renal(207;0.0915)	517			PI-PLC Y-box.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.1551C>T	CCDS46516.1																																																																																				0.502	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1				19	59	0	0	0	0.006122	0	19	59		
RNF25	64320	broad.mit.edu	37	2	219528996	219528996	+	Missense_Mutation	SNP	G	G	C	rs146227317		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:219528996G>C	ENST00000295704.2	-	10	1504	c.1064C>G	c.(1063-1065)cCa>cGa	p.P355R		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	355					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P355R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCCTTTGGGTGCCTCCG	0.612																																						uc002vit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1063-1065)CCA>CGA		ring finger protein 25		G	ARG/PRO	2,4404	4.2+/-10.8	0,2,2201	66.0	77.0	73.0		1064	1.6	0.5	2	dbSNP_134	73	0,8600		0,0,4300	no	missense	RNF25	NM_022453.2	103	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	benign	355/460	219528996	2,13004	2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219528996G>C		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1064C>G	2.37:g.219528996G>C	ENSP00000295704:p.Pro355Arg					RNF25_uc010fvw.2_Missense_Mutation_p.P243R	p.P355R	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1152	-		Renal(207;0.0474)	355					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.1064C>G	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	4.049	0.006707	0.07866	4.54E-4	0.0	ENSG00000163481	ENST00000295704	T	0.41400	1.0	5.37	1.57	0.23409	.	0.732597	0.12923	N	0.428050	T	0.29684	0.0741	L	0.29908	0.895	0.09310	N	0.999996	B	0.26258	0.145	B	0.29524	0.103	T	0.26121	-1.0112	10	0.56958	D	0.05	-9.7799	6.4183	0.21730	0.7004:0.0:0.2996:0.0	.	355	Q96BH1	RNF25_HUMAN	R	355	ENSP00000295704:P355R	ENSP00000295704:P355R	P	-	2	0	RNF25	219237240	0.145000	0.22656	0.489000	0.27452	0.303000	0.27691	0.421000	0.21280	0.157000	0.19338	-0.290000	0.09829	CCA		0.612	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		NM_022453		37	137	0	0	0	0.004878	0	37	137		
DNER	92737	broad.mit.edu	37	2	230341868	230341868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:230341868G>A	ENST00000341772.4	-	7	1383	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	417	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.Q417*(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCTGGACACTGGCAGGTGAAT	0.368																																						uc002vpv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(5)|ovary(2)|skin(1)	8						c.(1249-1251)CAG>TAG		delta-notch-like EGF repeat-containing							72.0	71.0	71.0					2																	230341868		2203	4300	6503	SO:0001587	stop_gained	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230341868G>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1249C>T	2.37:g.230341868G>A	ENSP00000345229:p.Gln417*					DNER_uc010zly.1_Nonsense_Mutation_p.Q145*	p.Q417*	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	7	1396	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	417			Extracellular (Potential).|EGF-like 5.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Nonsense_Mutation	SNP	ENST00000341772.4	37	c.1249C>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	39	7.509860	0.98329	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	.	.	.	5.95	5.06	0.68205	.	0.317463	0.34531	N	0.003891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.9654	0.79966	0.0:0.1355:0.8645:0.0	.	.	.	.	X	417;145	.	ENSP00000345229:Q417X	Q	-	1	0	DNER	230050112	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.629000	0.74267	1.494000	0.48533	0.655000	0.94253	CAG		0.368	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		NM_139072		38	21	0	0	0	0.005524	0	38	21		
NEU2	4759	broad.mit.edu	37	2	233899630	233899630	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:233899630G>A	ENST00000233840.3	+	2	1006	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	336					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)	p.D336N(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	TGCCTACTCAGACCTCCAGAG	0.612																																						uc010zmn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1006-1008)GAC>AAC		neuraminidase 2							103.0	112.0	109.0					2																	233899630		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899630G>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1006G>A	2.37:g.233899630G>A	ENSP00000233840:p.Asp336Asn						p.D336N	NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	1006	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	336					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.1006G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163318	0.94727	.	.	ENSG00000115488	ENST00000233840	D	0.85556	-2.0	4.94	4.94	0.65067	Neuraminidase (2);	0.000000	0.64402	D	0.000005	D	0.93423	0.7902	M	0.90309	3.105	0.58432	D	0.999996	D	0.69078	0.997	D	0.75020	0.985	D	0.93802	0.7102	10	0.44086	T	0.13	-46.0242	17.1722	0.86833	0.0:0.0:1.0:0.0	.	336	Q9Y3R4	NEUR2_HUMAN	N	336	ENSP00000233840:D336N	ENSP00000233840:D336N	D	+	1	0	NEU2	233607874	1.000000	0.71417	0.891000	0.34965	0.797000	0.45037	9.459000	0.97638	2.271000	0.75665	0.655000	0.94253	GAC		0.612	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2		NM_005383		114	84	0	0	0	0.01441	0	114	84		
COL6A3	1293	broad.mit.edu	37	2	238266512	238266512	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:238266512T>A	ENST00000295550.4	-	22	6937	c.6485A>T	c.(6484-6486)cAa>cTa	p.Q2162L	COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1956L|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1962L|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1956L|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q1555L|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1961L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2162	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q2162L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGCTGTCTTGTCCTGGGTT	0.527																																						uc002vwl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6484-6486)CAA>CTA		alpha 3 type VI collagen isoform 1 precursor							241.0	213.0	222.0					2																	238266512		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266512T>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6485A>T	2.37:g.238266512T>A	ENSP00000295550:p.Gln2162Leu					COL6A3_uc002vwo.2_Missense_Mutation_p.Q1956L|COL6A3_uc010znj.1_Missense_Mutation_p.Q1555L|COL6A3_uc002vwp.1_5'Flank	p.Q2162L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	22	6770	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2162			Triple-helical region.|Collagen-like 2.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6485A>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	9.708	1.156260	0.21454	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.46	-1.75	0.08031	.	0.876955	0.09490	N	0.795118	T	0.78892	0.4355	N	0.04669	-0.19	0.09310	N	1	B;B;B	0.13594	0.008;0.003;0.0	B;B;B	0.11329	0.006;0.004;0.0	T	0.66732	-0.5849	10	0.27082	T	0.32	.	0.3213	0.00304	0.3331:0.2543:0.1778:0.2347	.	1555;1956;2162	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	2162;1961;1956;1555;1956;1962	ENSP00000295550:Q2162L;ENSP00000315609:Q1961L;ENSP00000315873:Q1956L;ENSP00000418285:Q1555L;ENSP00000386844:Q1956L;ENSP00000295546:Q1962L	ENSP00000295550:Q2162L	Q	-	2	0	COL6A3	237931251	0.000000	0.05858	0.973000	0.42090	0.777000	0.43975	-1.308000	0.02730	-0.012000	0.14223	-0.912000	0.02778	CAA		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		166	123	0	0	0	0.01441	0	166	123		
HDAC4	9759	broad.mit.edu	37	2	240111708	240111708	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:240111708C>T	ENST00000345617.3	-	4	951	c.160G>A	c.(160-162)Gac>Aac	p.D54N	HDAC4_ENST00000541256.1_Missense_Mutation_p.D23N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	54					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D54N(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AACTGGTGGTCCAGGCGCAGG	0.657																																						uc002vyk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|skin(2)|ovary(1)	6						c.(160-162)GAC>AAC		histone deacetylase 4							23.0	25.0	24.0					2																	240111708		2202	4299	6501	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240111708C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.160G>A	2.37:g.240111708C>T	ENSP00000264606:p.Asp54Asn					HDAC4_uc010fyz.1_Missense_Mutation_p.D49N|HDAC4_uc010zoa.1_Missense_Mutation_p.D49N|HDAC4_uc010fza.2_Missense_Mutation_p.D54N|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_Missense_Mutation_p.D6N	p.D54N	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	4	952	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	54					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.160G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763296	0.69763	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.62105	0.05;1.11;0.57;0.65	4.56	3.68	0.42216	.	0.265346	0.34603	N	0.003837	T	0.73497	0.3594	M	0.65498	2.005	0.80722	D	1	B;D;D;D;D	0.76494	0.006;0.974;0.999;0.976;0.996	B;P;D;P;P	0.63488	0.004;0.796;0.915;0.631;0.877	T	0.73962	-0.3817	9	.	.	.	.	13.0062	0.58705	0.0:0.9208:0.0:0.0792	.	49;23;23;22;54	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	N	54;23;23;27	ENSP00000264606:D54N;ENSP00000443057:D23N;ENSP00000405226:D23N;ENSP00000392912:D27N	.	D	-	1	0	HDAC4	239776645	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	6.935000	0.75886	1.063000	0.40649	0.650000	0.86243	GAC		0.657	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2		NM_006037		18	9	0	0	0	0.007413	0	18	9		
ATG4B	23192	broad.mit.edu	37	2	242598539	242598539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:242598539G>A	ENST00000404914.3	+	7	578	c.475G>A	c.(475-477)Gat>Aat	p.D159N	ATG4B_ENST00000405546.3_Missense_Mutation_p.D159N|ATG4B_ENST00000396411.3_Missense_Mutation_p.D85N|ATG4B_ENST00000402096.1_Missense_Mutation_p.D85N|ATG4B_ENST00000474739.2_Missense_Mutation_p.D145N	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	159					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.D159N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGCTGTCTTCGATACGTGGAG	0.468																																					Melanoma(78;458 1323 6342 12171 39523)	uc002wbv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(475-477)GAT>AAT		APG4 autophagy 4 homolog B isoform a							104.0	106.0	105.0					2																	242598539		1971	4149	6120	SO:0001583	missense	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242598539G>A	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.475G>A	2.37:g.242598539G>A	ENSP00000384259:p.Asp159Asn					ATG4B_uc002wbu.2_Missense_Mutation_p.D85N|ATG4B_uc002wbw.2_Missense_Mutation_p.D159N|ATG4B_uc010zox.1_Missense_Mutation_p.D145N|ATG4B_uc010zoy.1_Missense_Mutation_p.D85N|ATG4B_uc010fzp.2_Missense_Mutation_p.D159N|ATG4B_uc010zoz.1_Missense_Mutation_p.D85N	p.D159N	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	7	578	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	159					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	ENST00000404914.3	37	c.475G>A	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448667	0.96205	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000425239;ENST00000430617;ENST00000429899;ENST00000311517	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.76	5.76	0.90799	.	0.046414	0.85682	D	0.000000	T	0.66117	0.2757	M	0.76433	2.335	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.991;0.999	D;D;D;P;D	0.85130	0.93;0.997;0.997;0.904;0.962	T	0.60078	-0.7333	10	0.27785	T	0.31	-40.8815	19.9772	0.97314	0.0:0.0:1.0:0.0	.	145;276;247;159;85	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	N	159;276;85;159;145;85;159;85;85;85	ENSP00000383964:D159N;ENSP00000384661:D85N;ENSP00000384259:D159N;ENSP00000442378:D145N;ENSP00000379692:D85N;ENSP00000409895:D159N;ENSP00000407389:D85N;ENSP00000410526:D85N	ENSP00000309348:D85N	D	+	1	0	ATG4B	242247212	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	8.312000	0.89976	2.724000	0.93272	0.563000	0.77884	GAT		0.468	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3		NM_013325		6	41	0	0	0	0.001168	0	6	41		
NOP56	10528	broad.mit.edu	37	20	2636004	2636004	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:2636004G>A	ENST00000329276.5	+	6	1119	c.603G>A	c.(601-603)gtG>gtA	p.V201V	SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	201					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.V201V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CGGAGCTGGTGAAGATCATCA	0.522																																						uc002wgh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(601-603)GTG>GTA		nucleolar protein 5A							141.0	133.0	136.0					20																	2636004		2203	4300	6503	SO:0001819	synonymous_variant	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636004G>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.603G>A	20.37:g.2636004G>A						NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Silent_p.V35V|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	p.V201V	NM_006392	NP_006383	O00567	NOP56_HUMAN			6	656	+			201					Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	37	c.603G>A	CCDS13030.1																																																																																				0.522	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2		NM_006392		15	83	0	0	0	0.004007	0	15	83		
PLCB1	23236	broad.mit.edu	37	20	8113380	8113380	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:8113380T>C	ENST00000338037.6	+	1	109	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	PLCB1_ENST00000378637.2_Missense_Mutation_p.F28L|PLCB1_ENST00000378641.3_Missense_Mutation_p.F28L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	28				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.F28L(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGGCACCAAATTCGTCAAGTG	0.682																																						uc002wnb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(82-84)TTC>CTC		phosphoinositide-specific phospholipase C beta 1							42.0	35.0	38.0					20																	8113380		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8113380T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.82T>C	20.37:g.8113380T>C	ENSP00000338185:p.Phe28Leu					PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Missense_Mutation_p.F28L|PLCB1_uc002wmz.1_Missense_Mutation_p.F28L|PLCB1_uc002wna.2_Missense_Mutation_p.F28L	p.F28L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			1	85	+			28	MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).				D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.82T>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.034309	0.93575	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.82	4.82	0.62117	.	0.075309	0.52532	D	0.000077	T	0.58836	0.2150	M	0.80422	2.495	0.49915	D	0.99983	B;P;P	0.50943	0.091;0.94;0.78	B;P;B	0.50659	0.029;0.647;0.151	T	0.60214	-0.7307	10	0.23302	T	0.38	.	14.347	0.66672	0.0:0.0:0.0:1.0	.	28;28;27	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	L	28;28;28;27	ENSP00000367908:F28L;ENSP00000338185:F28L;ENSP00000367904:F28L;ENSP00000384001:F27L	ENSP00000338185:F28L	F	+	1	0	PLCB1	8061380	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.684000	0.74538	1.929000	0.55896	0.460000	0.39030	TTC		0.682	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3				5	5	0	0	0	0.001168	0	5	5		
TPX2	22974	broad.mit.edu	37	20	30385318	30385318	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:30385318G>A	ENST00000300403.6	+	16	2473	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	TPX2_ENST00000340513.4_Splice_Site_p.E685K	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	649					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.E649K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCAGTTGCTGGTAGTATTAT	0.463																																						uc002wwp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(1945-1947)GAG>AAG		TPX2, microtubule-associated protein homolog							103.0	106.0	105.0					20																	30385318		2203	4300	6503	SO:0001630	splice_region_variant	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30385318G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1945+1G>A	20.37:g.30385318G>A						TPX2_uc010gdv.1_Missense_Mutation_p.E685K	p.E649K	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		16	2643	+			649					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1945G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566048	0.65651	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.33216	1.42	4.92	4.92	0.64577	.	0.279509	0.35151	N	0.003402	T	0.25158	0.0611	L	0.32530	0.975	0.45962	D	0.998783	B;B	0.19706	0.038;0.022	B;B	0.19391	0.025;0.016	T	0.03453	-1.1035	10	0.25751	T	0.34	-5.5094	15.4281	0.75069	0.0:0.0:1.0:0.0	.	685;649	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	649;685	ENSP00000341145:E685K	ENSP00000300403:E649K	E	+	1	0	TPX2	29848979	1.000000	0.71417	0.997000	0.53966	0.796000	0.44982	7.521000	0.81832	2.555000	0.86185	0.591000	0.81541	GAG		0.463	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			Missense_Mutation	32	121	0	0	0	0.010818	0	32	121		
FOXS1	2307	broad.mit.edu	37	20	30433105	30433105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:30433105G>A	ENST00000375978.3	-	1	315	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	81					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R81C(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGGTCATCGCGGGGCACCTTG	0.637																																						uc002wwt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(241-243)CGC>TGC		forkhead box S1							84.0	68.0	73.0					20																	30433105		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30433105G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.241C>T	20.37:g.30433105G>A	ENSP00000365145:p.Arg81Cys						p.R81C	NM_004118	NP_004109	O43638	FOXS1_HUMAN			1	316	-			81			Fork-head.		Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.241C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040598	0.75732	.	.	ENSG00000179772	ENST00000375978	D	0.96774	-4.12	4.76	4.76	0.60689	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.48767	D	0.000176	D	0.98738	0.9576	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98842	1.0755	10	0.87932	D	0	.	11.6947	0.51536	0.0:0.0:0.823:0.1769	.	81	O43638	FOXS1_HUMAN	C	81	ENSP00000365145:R81C	ENSP00000365145:R81C	R	-	1	0	FOXS1	29896766	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.230000	0.65321	2.488000	0.83962	0.555000	0.69702	CGC		0.637	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2		NM_004118		14	23	0	0	0	0.003163	0	14	23		
DNMT3B	1789	broad.mit.edu	37	20	31376814	31376814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:31376814C>G	ENST00000328111.2	+	7	1130	c.809C>G	c.(808-810)tCc>tGc	p.S270C	DNMT3B_ENST00000443239.3_Missense_Mutation_p.S228C|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S270C|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S194C|DNMT3B_ENST00000375623.4_Missense_Mutation_p.S228C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.S270C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S270C|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S282C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	270	Interaction with DNMT1 and DNMT3A.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.		S -> P (in ICF1; dbSNP:rs121908947). {ECO:0000269|PubMed:15580563}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.S270C(1)|p.S282C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAAGTTCTCCGAGGTGAGT	0.607																																						uc002wyc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|ovary(2)	5						c.(808-810)TCC>TGC		DNA cytosine-5 methyltransferase 3 beta isoform							92.0	71.0	78.0					20																	31376814		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31376814C>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.809C>G	20.37:g.31376814C>G	ENSP00000328547:p.Ser270Cys					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.S270C|DNMT3B_uc002wye.2_Missense_Mutation_p.S270C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.S228C|DNMT3B_uc010zua.1_Missense_Mutation_p.S194C|DNMT3B_uc002wyf.2_Missense_Mutation_p.S282C|DNMT3B_uc002wyg.2_5'Flank	p.S270C	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			7	1130	+			270		S -> P (in ICF).	PWWP.|Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.809C>G	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325729	0.81580	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.61	5.61	0.85477	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.86377	0.5918	M	0.86268	2.805	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	0.998;0.998;0.997;0.997;0.997;0.998	D	0.88046	0.2784	10	0.87932	D	0	-19.3705	18.6225	0.91326	0.0:1.0:0.0:0.0	.	194;228;282;270;270;270	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	C	270;356;270;270;228;194;270;228;282	ENSP00000328547:S270C;ENSP00000313397:S270C;ENSP00000337764:S270C;ENSP00000403169:S228C;ENSP00000412305:S194C;ENSP00000345105:S270C;ENSP00000364774:S228C;ENSP00000201963:S282C	ENSP00000201963:S282C	S	+	2	0	DNMT3B	30840475	1.000000	0.71417	0.983000	0.44433	0.498000	0.33706	7.783000	0.85696	2.643000	0.89663	0.462000	0.41574	TCC		0.607	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2		NM_006892		20	25	0	0	0	0.010504	0	20	25		
RALY	22913	broad.mit.edu	37	20	32659982	32659982	+	Missense_Mutation	SNP	G	G	C	rs114080584		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:32659982G>C	ENST00000246194.3	+	3	604	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.K34N	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	34	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K34N(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTCTGGTGAAGAAATCAGATG	0.488																																						uc002xab.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(100-102)AAG>AAC		RNA binding protein (autoantigenic,							127.0	118.0	121.0					20																	32659982		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32659982G>C	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.102G>C	20.37:g.32659982G>C	ENSP00000246194:p.Lys34Asn					RALY_uc010zui.1_Missense_Mutation_p.K34N|RALY_uc002xac.2_Missense_Mutation_p.K34N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.K34N	p.K34N	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			3	400	+			34			RRM.		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.102G>C	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734407	0.48939	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000333552;ENST00000442805	T;T;T;T;T;T	0.20881	2.42;2.42;2.42;2.42;2.04;2.42	5.45	3.43	0.39272	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.164676	0.52532	N	0.000068	T	0.12008	0.0292	N	0.05608	-0.01	0.48696	D	0.999698	B;B	0.12013	0.005;0.002	B;B	0.17722	0.011;0.019	T	0.07065	-1.0792	10	0.59425	D	0.04	-7.3192	12.5895	0.56436	0.0:0.1267:0.7415:0.1318	.	34;34	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	N	34	ENSP00000364255:K34N;ENSP00000413638:K34N;ENSP00000246194:K34N;ENSP00000403744:K34N;ENSP00000327522:K34N;ENSP00000415973:K34N	ENSP00000246194:K34N	K	+	3	2	RALY	32123643	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.750000	0.47500	0.798000	0.33994	0.585000	0.79938	AAG		0.488	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1				21	114	0	0	0	0.010504	0	21	114		
RALY	22913	broad.mit.edu	37	20	32664519	32664519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:32664519G>A	ENST00000246194.3	+	7	1058	c.556G>A	c.(556-558)Gag>Aag	p.E186K	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.E170K	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	186					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E186K(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AAAGAGCAGTGAGCTGCAGGC	0.572																																						uc002xab.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(556-558)GAG>AAG		RNA binding protein (autoantigenic,							54.0	46.0	49.0					20																	32664519		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32664519G>A	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.556G>A	20.37:g.32664519G>A	ENSP00000246194:p.Glu186Lys					RALY_uc002xac.2_Missense_Mutation_p.E170K|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.E186K	p.E186K	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			7	854	+			186					Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.556G>A	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055221	0.75960	.	.	ENSG00000125970	ENST00000375114;ENST00000246194;ENST00000333552;ENST00000442805	T;T;T;T	0.39406	1.08;1.08;1.58;1.08	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.59357	0.984;0.985	P;P	0.53549	0.729;0.471	T	0.60835	-0.7184	10	0.72032	D	0.01	-33.8153	18.7443	0.91787	0.0:0.0:1.0:0.0	.	170;186	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	K	170;186;120;170	ENSP00000364255:E170K;ENSP00000246194:E186K;ENSP00000327522:E120K;ENSP00000415973:E170K	ENSP00000246194:E186K	E	+	1	0	RALY	32128180	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.074000	0.93998	2.764000	0.94973	0.484000	0.47621	GAG		0.572	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1				8	45	0	0	0	0.006214	0	8	45		
EPB41L1	2036	broad.mit.edu	37	20	34782172	34782172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:34782172G>A	ENST00000338074.2	+	12	1500	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	EPB41L1_ENST00000373950.2_Missense_Mutation_p.D350N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.D385N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D447N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D385N|EPB41L1_ENST00000373946.3_Missense_Mutation_p.D416N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	447					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D21N(1)|p.D447N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGAGAACCATGATGCAGGGCC	0.597																																						uc002xfb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(1339-1341)GAT>AAT		erythrocyte membrane protein band 4.1-like 1							66.0	55.0	59.0					20																	34782172		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34782172G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1339G>A	20.37:g.34782172G>A	ENSP00000337168:p.Asp447Asn					EPB41L1_uc002xeu.2_Missense_Mutation_p.D385N|EPB41L1_uc010zvo.1_Missense_Mutation_p.D447N|EPB41L1_uc002xev.2_Missense_Mutation_p.D447N|EPB41L1_uc002xew.2_Missense_Mutation_p.D350N|EPB41L1_uc002xex.2_Missense_Mutation_p.D416N|EPB41L1_uc002xey.2_Missense_Mutation_p.D374N|EPB41L1_uc002xez.2_Missense_Mutation_p.D385N	p.D447N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			12	1510	+	Breast(12;0.0239)		447					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1339G>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.962413|3.962413	0.74016|0.74016	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941|ENST00000451082	D;D;D;D;D;D|.	0.84146|.	-1.81;-1.72;-1.81;-1.75;-1.76;-1.76|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.748944|.	0.12917|.	N|.	0.428482|.	T|T	0.54743|0.54743	0.1877|0.1877	N|N	0.24115|0.24115	0.695|0.695	0.47374|0.47374	D|D	0.999403|0.999403	B;D;P;D;B;B|.	0.56035|.	0.138;0.965;0.752;0.974;0.442;0.027|.	B;P;P;P;B;B|.	0.50791|.	0.05;0.65;0.583;0.647;0.076;0.117|.	T|T	0.49934|0.49934	-0.8886|-0.8886	10|5	0.22109|.	T|.	0.4|.	.|.	18.0549|18.0549	0.89361|0.89361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	447;447;416;350;350;385|.	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	.;E41L1_HUMAN;.;.;.;.|.	N|I	385;350;447;350;385;416;21;447;447|24	ENSP00000202028:D385N;ENSP00000363061:D350N;ENSP00000399214:D385N;ENSP00000363057:D416N;ENSP00000337168:D447N;ENSP00000363052:D447N|.	ENSP00000202028:D385N|.	D|M	+|+	1|3	0|0	EPB41L1|EPB41L1	34245586|34245586	1.000000|1.000000	0.71417|0.71417	0.059000|0.059000	0.19551|0.19551	0.231000|0.231000	0.25187|0.25187	6.059000|6.059000	0.71133|0.71133	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.597	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3		NM_012156		6	28	0	0	0	0.00308	0	6	28		
DHX35	60625	broad.mit.edu	37	20	37621005	37621005	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:37621005C>T	ENST00000252011.3	+	7	552	c.519C>T	c.(517-519)atC>atT	p.I173I	DHX35_ENST00000373323.4_Silent_p.I142I|DHX35_ENST00000373325.2_Silent_p.I173I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	173	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.I173I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTAGTGTCATCATGCTGGATG	0.433																																						uc002xjh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|kidney(1)|skin(1)	3						c.(517-519)ATC>ATT		DEAH (Asp-Glu-Ala-His) box polypeptide 35							216.0	191.0	199.0					20																	37621005		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37621005C>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.519C>T	20.37:g.37621005C>T						DHX35_uc010zwa.1_Silent_p.I18I|DHX35_uc010zwb.1_Silent_p.I18I|DHX35_uc010zwc.1_Silent_p.I142I	p.I173I	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			7	530	+		Myeloproliferative disorder(115;0.00878)	173			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.519C>T	CCDS13310.1																																																																																				0.433	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931		49	126	0	0	0	0.01441	0	49	126		
CHD6	84181	broad.mit.edu	37	20	40065975	40065975	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:40065975C>T	ENST00000373233.3	-	27	4185		c.e27-1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.?(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGTTGCCTCTAAATAAAAG	0.398																																						uc002xka.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.e27-1		chromodomain helicase DNA binding protein 6							153.0	122.0	133.0					20																	40065975		2203	4300	6503	SO:0001630	splice_region_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40065975C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4008-1G>A	20.37:g.40065975C>T						CHD6_uc002xkb.1_Intron	p.R1336_splice	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			27	4186	-		Myeloproliferative disorder(115;0.00425)						Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	37	c.4008_splice	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076829	0.76415	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6951	0.77490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39499389	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.487000	0.60293	2.473000	0.83533	0.655000	0.94253	.		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			Intron	41	84	0	0	0	0.00623	0	41	84		
SGK2	10110	broad.mit.edu	37	20	42196637	42196637	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:42196637G>C	ENST00000341458.4	+	4	625	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	SGK2_ENST00000423407.3_Missense_Mutation_p.E76Q|SGK2_ENST00000426287.1_Missense_Mutation_p.E102Q|SGK2_ENST00000373077.1_Missense_Mutation_p.E76Q|SGK2_ENST00000373092.3_Missense_Mutation_p.E76Q|SGK2_ENST00000373100.1_Missense_Mutation_p.E76Q	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.E136Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGAAGAAAGAGGTACCAGA	0.502																																						uc002xkv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(406-408)GAG>CAG		serum/glucocorticoid regulated kinase 2 isoform							58.0	58.0	58.0					20																	42196637		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42196637G>C	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.406G>C	20.37:g.42196637G>C	ENSP00000340608:p.Glu136Gln					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.E76Q|SGK2_uc010ggm.2_Missense_Mutation_p.E76Q|SGK2_uc002xks.2_Missense_Mutation_p.E76Q|SGK2_uc002xku.2_Missense_Mutation_p.E76Q|SGK2_uc002xkq.1_Missense_Mutation_p.E76Q	p.E136Q	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	625	+		Myeloproliferative disorder(115;0.00452)	136			Protein kinase.|Nuclear localization signal (By similarity).		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.406G>C	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323874	0.81580	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.39	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048375	0.85682	D	0.000000	T	0.72526	0.3471	L	0.28344	0.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.996;0.999	T	0.76110	-0.3079	10	0.59425	D	0.04	.	16.6166	0.84917	0.0:0.0:1.0:0.0	.	102;136;76	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	Q	76;76;76;76;76;136;102	ENSP00000362192:E76Q;ENSP00000362184:E76Q;ENSP00000362168:E76Q;ENSP00000396222:E76Q;ENSP00000392795:E76Q;ENSP00000340608:E136Q;ENSP00000412214:E102Q	ENSP00000340608:E136Q	E	+	1	0	SGK2	41630051	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.612000	0.98347	2.379000	0.81126	0.561000	0.74099	GAG		0.502	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1				9	59	0	0	0	0.008291	0	9	59		
SERINC3	10955	broad.mit.edu	37	20	43141486	43141486	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43141486G>C	ENST00000342374.4	-	3	508	c.351C>G	c.(349-351)ttC>ttG	p.F117L	SERINC3_ENST00000468234.1_5'Flank|SERINC3_ENST00000541235.1_Missense_Mutation_p.F62L|SERINC3_ENST00000255175.1_Missense_Mutation_p.F117L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	117					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.F117L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTTTTACTTTGAACATGAGCA	0.398																																						uc002xme.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)	3						c.(349-351)TTC>TTG		tumor differentially expressed protein 1							137.0	124.0	128.0					20																	43141486		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43141486G>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.351C>G	20.37:g.43141486G>C	ENSP00000340243:p.Phe117Leu					SERINC3_uc002xmf.1_Missense_Mutation_p.F117L|SERINC3_uc010ggs.1_Missense_Mutation_p.F110L|SERINC3_uc010zwp.1_Missense_Mutation_p.F62L	p.F117L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		3	485	-		Myeloproliferative disorder(115;0.0122)	117			Helical; (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.351C>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	1.769	-0.484886	0.04352	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.11385	2.78;2.78;2.78	5.08	-8.27	0.01017	.	0.664824	0.15119	N	0.279506	T	0.01320	0.0043	N	0.00392	-1.555	0.18873	N	0.999986	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33214	-0.9877	10	0.08837	T	0.75	.	0.0839	0.00034	0.2937:0.1772:0.2047:0.3243	.	117;117	Q53GK8;Q13530	.;SERC3_HUMAN	L	117;117;84;62	ENSP00000255175:F117L;ENSP00000340243:F117L;ENSP00000440966:F62L	ENSP00000255175:F117L	F	-	3	2	SERINC3	42574900	0.633000	0.27181	0.013000	0.15412	0.051000	0.14879	-0.347000	0.07750	-1.769000	0.01297	-2.891000	0.00095	TTC		0.398	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		17	108	0	0	0	0.004007	0	17	108		
PKIG	11142	broad.mit.edu	37	20	43243233	43243233	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43243233C>T	ENST00000372889.1	+	5	621	c.36C>T	c.(34-36)atC>atT	p.I12I	PKIG_ENST00000372882.3_Silent_p.I12I|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372894.3_Silent_p.I12I|PKIG_ENST00000372892.3_Silent_p.I12I|PKIG_ENST00000372886.1_Silent_p.I12I|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000349959.3_Silent_p.I12I|PKIG_ENST00000372891.3_Silent_p.I12I|PKIG_ENST00000372887.1_Silent_p.I12I	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	12					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)	p.I12I(1)		breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGGACTTCATCTCCTGTGACC	0.617																																						uc002xmg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(34-36)ATC>ATT		cAMP-dependent protein kinase inhibitor gamma							111.0	93.0	99.0					20																	43243233		2203	4300	6503	SO:0001819	synonymous_variant	11142						cAMP-dependent protein kinase inhibitor activity|protein binding	g.chr20:43243233C>T	AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.36C>T	20.37:g.43243233C>T						PKIG_uc002xmh.2_Silent_p.I12I|PKIG_uc002xmi.2_Silent_p.I12I	p.I12I	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)		5	565	+		Myeloproliferative disorder(115;0.0122)	12						Silent	SNP	ENST00000372889.1	37	c.36C>T	CCDS13334.1																																																																																				0.617	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127804.1				31	74	0	0	0	0.008361	0	31	74		
RIMS4	140730	broad.mit.edu	37	20	43399923	43399923	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:43399923C>G	ENST00000372851.3	-	2	295	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.E78Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	77					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.E77Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TACTTGCCCTCTGAGCCATAG	0.637																																						uc002xms.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(229-231)GAG>CAG		regulating synaptic membrane exocytosis 4							87.0	67.0	74.0					20																	43399923		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43399923C>G		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.229G>C	20.37:g.43399923C>G	ENSP00000361942:p.Glu77Gln					RIMS4_uc010ggu.2_Missense_Mutation_p.E78Q	p.E77Q	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			2	229	-		Myeloproliferative disorder(115;0.0122)	77					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.229G>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100257	0.56183	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.22134	1.97;1.97	4.16	3.18	0.36537	.	0.229212	0.44285	D	0.000469	T	0.37785	0.1016	M	0.64997	1.995	0.58432	D	0.999993	B;D	0.63046	0.154;0.992	B;P	0.61477	0.15;0.889	T	0.25398	-1.0133	10	0.56958	D	0.05	.	12.6905	0.56972	0.0:0.9134:0.0:0.0866	.	78;77	E1P613;Q9H426	.;RIMS4_HUMAN	Q	77;78	ENSP00000361942:E77Q;ENSP00000439287:E78Q	ENSP00000361942:E77Q	E	-	1	0	RIMS4	42833337	1.000000	0.71417	0.933000	0.37362	0.930000	0.56654	7.750000	0.85110	2.035000	0.60131	0.551000	0.68910	GAG		0.637	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2		NM_182970		15	67	0	0	0	0.003163	0	15	67		
ZMYND8	23613	broad.mit.edu	37	20	45923508	45923508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:45923508C>T	ENST00000311275.7	-	5	662	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ZMYND8_ENST00000262975.4_Missense_Mutation_p.E137K|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E157K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E132K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E157K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E137K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E164K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E132K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E132K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E132K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E157K|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E137K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	137					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.E157K(1)|p.E157Q(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGATGCATTCTGCTACTGTA	0.383																																						uc002xta.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(409-411)GAA>AAA		zinc finger, MYND-type containing 8 isoform b							245.0	221.0	229.0					20																	45923508		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45923508C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.409G>A	20.37:g.45923508C>T	ENSP00000312237:p.Glu137Lys					ZMYND8_uc010ghr.1_Missense_Mutation_p.E112K|ZMYND8_uc002xst.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsu.1_Missense_Mutation_p.E137K|ZMYND8_uc002xsv.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.E112K|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc010zxy.1_Missense_Mutation_p.E164K|ZMYND8_uc002xtb.1_Missense_Mutation_p.E157K|ZMYND8_uc002xss.2_Missense_Mutation_p.E137K|ZMYND8_uc010zxz.1_Missense_Mutation_p.E132K|ZMYND8_uc002xtc.1_Missense_Mutation_p.E157K|ZMYND8_uc002xtd.1_Missense_Mutation_p.E132K|ZMYND8_uc002xte.1_Missense_Mutation_p.E137K|ZMYND8_uc010zya.1_Missense_Mutation_p.E137K|ZMYND8_uc002xtf.1_Missense_Mutation_p.E157K|ZMYND8_uc002xtg.2_Missense_Mutation_p.E131K|ZMYND8_uc010ghs.1_Missense_Mutation_p.E131K	p.E137K	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		5	663	-			137					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.409G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.832847|5.832847	0.97003|0.97003	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95724|.	-1.97;-1.82;-1.95;-1.85;-1.83;-1.85;-1.95;-1.83;-1.82;-1.85;-1.97;-1.89;-3.79|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Bromodomain (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69513|0.69513	0.3119|0.3119	L|L	0.42686|0.42686	1.345|1.345	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D|.	0.89917|.	1.0;1.0;0.997;0.999;1.0;1.0;1.0;1.0;1.0;0.998;0.999;0.816;0.998;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D|.	0.91635|.	0.997;0.999;0.995;0.998;0.997;0.999;0.999;0.998;0.999;0.995;0.998;0.707;0.994;0.997;0.997|.	T|T	0.62181|0.62181	-0.6908|-0.6908	10|5	0.66056|.	D|.	0.02|.	-9.3586|-9.3586	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;164;132;132;157;137;132;157;157;137;132;132;157;132;137|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.|.	K|K	132;137;132;137;157;157;137;164;137;157;132;132;112|63	ENSP00000354166:E132K;ENSP00000312237:E137K;ENSP00000392964:E132K;ENSP00000262975:E137K;ENSP00000420095:E157K;ENSP00000335537:E157K;ENSP00000379577:E137K;ENSP00000439800:E164K;ENSP00000348246:E137K;ENSP00000418210:E157K;ENSP00000361093:E132K;ENSP00000443086:E132K;ENSP00000413727:E112K|.	ENSP00000262975:E137K|.	E|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45356915|45356915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.818000|7.818000	0.86416|0.86416	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.383	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		92	227	0	0	0	0.01441	0	92	227		
CSE1L	1434	broad.mit.edu	37	20	47704592	47704592	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:47704592C>T	ENST00000262982.2	+	17	1893	c.1770C>T	c.(1768-1770)taC>taT	p.Y590Y	CSE1L_ENST00000542325.1_Silent_p.Y373Y|CSE1L_ENST00000396192.3_Silent_p.Y534Y	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	590					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.Y590Y(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TAATCCCCTACATCCCTACTC	0.348																																						uc002xty.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|skin(1)	2						c.(1768-1770)TAC>TAT		CSE1 chromosome segregation 1-like protein							100.0	96.0	97.0					20																	47704592		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47704592C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1770C>T	20.37:g.47704592C>T						CSE1L_uc010zyg.1_Silent_p.Y373Y|CSE1L_uc010ghx.2_Silent_p.Y534Y|CSE1L_uc010ghy.2_Silent_p.Y211Y|CSE1L_uc010zyh.1_Silent_p.Y239Y	p.Y590Y	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		17	1904	+			590					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.1770C>T	CCDS13412.1																																																																																				0.348	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		36	106	0	0	0	0.006999	0	36	106		
SLC9A8	23315	broad.mit.edu	37	20	48503324	48503324	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:48503324C>T	ENST00000361573.2	+	15	1569	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000539601.1_Silent_p.L290L|SLC9A8_ENST00000417961.1_Silent_p.L525L|SLC9A8_ENST00000541138.1_Silent_p.L209L			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	509					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.L509L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTCGGAGCTCACGGAGGAGG	0.647																																						uc002xuv.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1525-1527)CTC>CTT		sodium/hydrogen exchanger 8							114.0	90.0	98.0					20																	48503324		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48503324C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1527C>T	20.37:g.48503324C>T						SLC9A8_uc010zym.1_Silent_p.L209L|SLC9A8_uc010gid.2_Silent_p.L133L	p.L509L	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		15	1737	+			509					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1527C>T	CCDS13421.1																																																																																				0.647	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3		XM_030524		23	61	0	0	0	0.004656	0	23	61		
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:50255994C>T	ENST00000338821.5	-	15	1820	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ATP9A_ENST00000402822.1_Missense_Mutation_p.R398Q|ATP9A_ENST00000311637.5_Missense_Mutation_p.R383Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R519Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGACTGGTCTCGGCCCACCAG	0.547											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xwg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(1555-1557)CGA>CAA		ATPase, class II, type 9A							129.0	104.0	112.0					20																	50255994		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50255994C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1556G>A	20.37:g.50255994C>T	ENSP00000342481:p.Arg519Gln		OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_uc010gih.1_Missense_Mutation_p.R383Q|ATP9A_uc002xwf.1_Intron	p.R519Q	NM_006045	NP_006036	O75110	ATP9A_HUMAN			15	1556	-			519			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1556G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518417	0.96416	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.72505	-0.66;-0.66;-0.66	5.26	5.26	0.73747	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87740	0.6253	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.964;0.978	D	0.90471	0.4453	10	0.87932	D	0	-15.1285	18.8519	0.92235	0.0:1.0:0.0:0.0	.	398;519	O75110-2;O75110	.;ATP9A_HUMAN	Q	383;519;398	ENSP00000309086:R383Q;ENSP00000342481:R519Q;ENSP00000385875:R398Q	ENSP00000309086:R383Q	R	-	2	0	ATP9A	49689401	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	7.718000	0.84743	2.452000	0.82932	0.609000	0.83330	CGA		0.547	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1		NM_006045		29	88	0	0	0	0.00632	0	29	88		
TSHZ2	128553	broad.mit.edu	37	20	51871960	51871960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:51871960G>T	ENST00000371497.5	+	2	2850	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.E652*|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.E652*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	655					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E655*(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GAAGGAGGAGGAGAAGCTGAT	0.592																																						uc002xwo.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1963-1965)GAG>TAG		teashirt zinc finger homeobox 2							52.0	55.0	54.0					20																	51871960		2203	4300	6503	SO:0001587	stop_gained	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871960G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1963G>T	20.37:g.51871960G>T	ENSP00000360552:p.Glu655*						p.E655*	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2919	+			655					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Nonsense_Mutation	SNP	ENST00000371497.5	37	c.1963G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	46	12.088842	0.99635	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	.	.	.	5.02	4.07	0.47477	.	0.618592	0.17111	N	0.186614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1824	8.145	0.31106	0.2431:0.0:0.7569:0.0	.	.	.	.	X	655;652;181	.	ENSP00000333114:E652X	E	+	1	0	TSHZ2	51305367	0.891000	0.30450	0.983000	0.44433	0.950000	0.60333	1.216000	0.32443	1.094000	0.41399	0.643000	0.83706	GAG		0.592	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		NM_173485		9	69	1	0	3.09899e-07	0.004482	3.18577e-07	9	69		
GNAS	2778	broad.mit.edu	37	20	57480468	57480468	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:57480468G>C	ENST00000371085.3	+	6	887	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.E141Q|GNAS_ENST00000371095.3_Missense_Mutation_p.E141Q|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.E798Q|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.E156Q|GNAS_ENST00000371102.4_Missense_Mutation_p.E784Q|GNAS_ENST00000265620.7_Missense_Mutation_p.E140Q	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	155					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E798Q(1)|p.E155Q(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGCTCTGTGGGAGGATGAAGG	0.473			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NaN		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - Missense(2)		urinary_tract(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2392-2394)GAG>CAG		GNAS complex locus XLas							124.0	112.0	116.0					20																	57480468		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57480468G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.463G>C	20.37:g.57480468G>C	ENSP00000360126:p.Glu155Gln	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E96Q|GNAS_uc002xzx.2_Missense_Mutation_p.E96Q|GNAS_uc010gjr.2_Missense_Mutation_p.E46Q|GNAS_uc002xzy.2_Missense_Mutation_p.E81Q|GNAS_uc002yaa.2_Missense_Mutation_p.E141Q|GNAS_uc010zzt.1_Missense_Mutation_p.E156Q|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E46Q|GNAS_uc002yae.2_Missense_Mutation_p.E80Q	p.E798Q	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		6	2677	+	all_lung(29;0.0104)		155					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2392G>C	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.26|11.26	1.586920|1.586920	0.28268|0.28268	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000349036;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090|ENST00000450130	D;D;D;D;D;D;D;D|.	0.88586|.	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4|.	5.93|5.93	3.93|3.93	0.45458|0.45458	G protein alpha subunit, helical insertion (4);|.	0.212877|.	0.49916|.	N|.	0.000122|.	T|T	0.33469|0.33469	0.0864|0.0864	N|N	0.03253|0.03253	-0.375|-0.375	0.36996|0.36996	D|D	0.895048|0.895048	B;B;B;B|.	0.23591|.	0.0;0.0;0.0;0.088|.	B;B;B;B|.	0.30716|.	0.001;0.002;0.0;0.119|.	T|T	0.34750|0.34750	-0.9816|-0.9816	10|5	0.17369|.	T|.	0.5|.	.|.	15.2564|15.2564	0.73588|0.73588	0.0:0.3594:0.6406:0.0|0.0:0.3594:0.6406:0.0	.|.	155;156;140;798|.	P63092;A6NI00;P63092-3;Q5JWF2|.	GNAS2_HUMAN;.;.;GNAS1_HUMAN|.	Q|A	798;784;172;141;155;156;140;141|169	ENSP00000360141:E798Q;ENSP00000360143:E784Q;ENSP00000265621:E172Q;ENSP00000360136:E141Q;ENSP00000360126:E155Q;ENSP00000346328:E156Q;ENSP00000265620:E140Q;ENSP00000304472:E141Q|.	ENSP00000265620:E140Q|.	E|G	+|+	1|2	0|0	GNAS|GNAS	56913863|56913863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	3.198000|3.198000	0.51035|0.51035	1.506000|1.506000	0.48736|0.48736	-0.165000|-0.165000	0.13383|0.13383	GAG|GGA		0.473	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2		NM_000516		8	64	0	0	0	0.006214	0	8	64		
HELZ2	85441	broad.mit.edu	37	20	62195447	62195447	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:62195447C>T	ENST00000467148.1	-	8	4797	c.4728G>A	c.(4726-4728)ctG>ctA	p.L1576L	HELZ2_ENST00000427522.2_Silent_p.L1007L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1576					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1576L(1)									GGTGCAGTGACAGGGGCACCC	0.711																																						uc002yfm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(4726-4728)CTG>CTA		PPAR-alpha interacting complex protein 285							20.0	19.0	19.0					20																	62195447		2181	4295	6476	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62195447C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4728G>A	20.37:g.62195447C>T						PRIC285_uc002yfl.1_Silent_p.L1007L	p.L1576L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	5620	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1576					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4728G>A	CCDS33508.1																																																																																				0.711	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		10	16	0	0	0	0.010729	0	10	16		
MYT1	4661	broad.mit.edu	37	20	62838960	62838960	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr20:62838960C>G	ENST00000328439.1	+	7	775	c.411C>G	c.(409-411)gtC>gtG	p.V137V	MYT1_ENST00000536311.1_Silent_p.V137V|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V137V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCCCCGTCAAGTCCCATT	0.582																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(409-411)GTC>GTG		myelin transcription factor 1							81.0	90.0	87.0					20																	62838960		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62838960C>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.411C>G	20.37:g.62838960C>G						MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	p.V137V	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	775	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		137					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.411C>G	CCDS13558.1																																																																																				0.582	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535		18	117	0	0	0	0.008871	0	18	117		
SCAF4	57466	broad.mit.edu	37	21	33044531	33044531	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:33044531C>G	ENST00000286835.7	-	20	3007	c.2625G>C	c.(2623-2625)ttG>ttC	p.L875F	SCAF4_ENST00000399804.1_Missense_Mutation_p.L853F|SCAF4_ENST00000434667.3_Missense_Mutation_p.L860F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	875						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L875F(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGGCGGCATCAAAGGGAACC	0.632																																						uc002ypd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2623-2625)TTG>TTC		splicing factor, arginine/serine-rich 15 isoform							65.0	65.0	65.0					21																	33044531		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044531C>G	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2625G>C	21.37:g.33044531C>G	ENSP00000286835:p.Leu875Phe					SFRS15_uc002ype.2_Missense_Mutation_p.L853F|SFRS15_uc010glu.2_Missense_Mutation_p.L860F	p.L875F	NM_020706	NP_065757	O95104	SFR15_HUMAN			20	3051	-			875					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2625G>C	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499959	0.26861	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.52295	0.77;0.75;0.67	5.13	5.13	0.70059	.	0.444748	0.19022	N	0.124783	T	0.31389	0.0795	N	0.08118	0	0.30801	N	0.739893	B;B;B	0.30146	0.177;0.27;0.177	B;B;B	0.29716	0.049;0.106;0.049	T	0.30650	-0.9971	10	0.40728	T	0.16	-0.1394	16.9468	0.86232	0.0:1.0:0.0:0.0	.	860;853;875	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	F	860;875;853	ENSP00000402377:L860F;ENSP00000286835:L875F;ENSP00000382703:L853F	ENSP00000286835:L875F	L	-	3	2	SCAF4	31966402	1.000000	0.71417	0.997000	0.53966	0.632000	0.37999	2.157000	0.42320	2.671000	0.90904	0.555000	0.69702	TTG		0.632	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		22	73	0	0	0	0.014323	0	22	73		
ITSN1	6453	broad.mit.edu	37	21	35153820	35153820	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:35153820A>G	ENST00000381318.3	+	15	1940	c.1652A>G	c.(1651-1653)cAa>cGa	p.Q551R	ITSN1_ENST00000381291.4_Missense_Mutation_p.Q551R|ITSN1_ENST00000399353.1_Missense_Mutation_p.Q514R|ITSN1_ENST00000399349.1_Missense_Mutation_p.Q551R|ITSN1_ENST00000399326.3_Missense_Mutation_p.Q551R|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q551R|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q551R|ITSN1_ENST00000399338.4_Missense_Mutation_p.Q551R|ITSN1_ENST00000379960.5_Missense_Mutation_p.Q551R|ITSN1_ENST00000399355.2_Missense_Mutation_p.Q551R|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.Q551R|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q551R	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	551	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q551R(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCAATGACCAATTAAAACAA	0.358																																						uc002yta.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1651-1653)CAA>CGA		intersectin 1 isoform ITSN-l							112.0	110.0	111.0					21																	35153820		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35153820A>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1652A>G	21.37:g.35153820A>G	ENSP00000370719:p.Gln551Arg					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmg.2_Missense_Mutation_p.Q514R|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmi.2_Missense_Mutation_p.Q514R|ITSN1_uc010gmj.2_Missense_Mutation_p.Q435R|ITSN1_uc002ysy.2_Missense_Mutation_p.Q551R|ITSN1_uc002ysx.2_Missense_Mutation_p.Q514R|ITSN1_uc002ytb.1_Missense_Mutation_p.Q551R|ITSN1_uc002ytc.1_Missense_Mutation_p.Q551R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.Q514R|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.Q551R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.Q485R	p.Q551R	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			15	1920	+			551			Potential.|KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1652A>G	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.048942	0.55110	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;2.64;2.64;2.64;1.58;1.58;2.64;1.58;1.58;1.58;1.58;1.58	5.67	5.67	0.87782	.	0.055422	0.64402	D	0.000001	T	0.24736	0.0600	N	0.01751	-0.74	0.80722	D	1	D;D;P;D;P;D;D;D;B;D	0.69078	0.997;0.986;0.675;0.983;0.604;0.979;0.99;0.996;0.033;0.986	D;P;B;P;P;P;P;D;B;P	0.71184	0.909;0.82;0.173;0.908;0.483;0.549;0.883;0.972;0.171;0.82	T	0.21655	-1.0239	10	0.02654	T	1	.	15.92	0.79556	1.0:0.0:0.0:0.0	.	514;514;514;551;551;551;551;551;551;514	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	R	514;551;551;551;551;551;551;551;551;551;551;551;551;551	ENSP00000382290:Q514R;ENSP00000370719:Q551R;ENSP00000370691:Q551R;ENSP00000370685:Q551R;ENSP00000382301:Q551R;ENSP00000382289:Q551R;ENSP00000382292:Q551R;ENSP00000382286:Q551R;ENSP00000382275:Q551R;ENSP00000387377:Q551R;ENSP00000382265:Q551R;ENSP00000369294:Q551R	ENSP00000369294:Q551R	Q	+	2	0	ITSN1	34075690	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.318000	0.79029	2.159000	0.67721	0.455000	0.32223	CAA		0.358	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4		NM_003024		15	122	0	0	0	0.006122	0	15	122		
MORC3	23515	broad.mit.edu	37	21	37741509	37741509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:37741509G>A	ENST00000400485.1	+	15	1919	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	615					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.D615N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTTTGTGGGTGACAGTGAACC	0.473																																						uc002yvi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1843-1845)GAC>AAC		MORC family CW-type zinc finger 3							238.0	236.0	237.0					21																	37741509		2160	4262	6422	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741509G>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1843G>A	21.37:g.37741509G>A	ENSP00000383333:p.Asp615Asn						p.D615N	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	1919	+			615					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1843G>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	6.879	0.531669	0.13127	.	.	ENSG00000159256	ENST00000400485	T	0.13901	2.55	5.95	-1.33	0.09172	.	1.269890	0.04860	N	0.443883	T	0.10423	0.0255	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36939	-0.9727	10	0.15952	T	0.53	-0.9496	5.1699	0.15105	0.4465:0.0:0.4175:0.136	.	615	Q14149	MORC3_HUMAN	N	615	ENSP00000383333:D615N	ENSP00000383333:D615N	D	+	1	0	MORC3	36663379	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	0.121000	0.15667	-0.318000	0.08665	0.655000	0.94253	GAC		0.473	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		70	130	0	0	0	0.01441	0	70	130		
TTC3	7267	broad.mit.edu	37	21	38519889	38519889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:38519889G>A	ENST00000399017.2	+	22	4749	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	TTC3_ENST00000355666.1_Missense_Mutation_p.D668N|TTC3_ENST00000354749.2_Missense_Mutation_p.D668N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.D358N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	668					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D668N(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATACATAACTGATCCAGACTT	0.378																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(2002-2004)GAT>AAT		tetratricopeptide repeat domain 3							114.0	109.0	111.0					21																	38519889		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38519889G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2002G>A	21.37:g.38519889G>A	ENSP00000381981:p.Asp668Asn					TTC3_uc011aee.1_Missense_Mutation_p.D358N|TTC3_uc002ywa.2_Missense_Mutation_p.D668N|TTC3_uc002ywb.2_Missense_Mutation_p.D668N|TTC3_uc010gnf.2_Missense_Mutation_p.D433N|TTC3_uc002ywc.2_Missense_Mutation_p.D358N|TTC3_uc011aed.1_Missense_Mutation_p.D358N	p.D668N	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			22	2107	+		Myeloproliferative disorder(46;0.0412)	668					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.2002G>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438972	0.83885	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.61158	1.96;0.23;1.98;2.2;0.13;2.2;2.2	4.88	4.88	0.63580	.	0.092879	0.46442	D	0.000293	T	0.67951	0.2948	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.70934	-0.4737	10	0.59425	D	0.04	-28.0918	17.997	0.89187	0.0:0.0:1.0:0.0	.	358;668	B4DSZ9;P53804	.;TTC3_HUMAN	N	668;668;650;668;358;668;668	ENSP00000403943:D668N;ENSP00000408456:D668N;ENSP00000391891:D650N;ENSP00000347889:D668N;ENSP00000442875:D358N;ENSP00000381981:D668N;ENSP00000346791:D668N	ENSP00000346791:D668N	D	+	1	0	TTC3	37441759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.982000	0.88131	2.409000	0.81822	0.650000	0.86243	GAT		0.378	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				58	179	0	0	0	0.01441	0	58	179		
ERG	2078	broad.mit.edu	37	21	39755527	39755527	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:39755527G>A	ENST00000417133.2	-	12	1444	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	ERG_ENST00000398910.1_Missense_Mutation_p.S397L|ERG_ENST00000442448.1_Missense_Mutation_p.S396L|ERG_ENST00000453032.2_Missense_Mutation_p.S321L|ERG_ENST00000398919.2_Missense_Mutation_p.S420L|ERG_ENST00000398897.1_Missense_Mutation_p.S297L|ERG_ENST00000398911.1_Missense_Mutation_p.S396L|ERG_ENST00000398905.1_Missense_Mutation_p.S389L|ERG_ENST00000398907.1_Missense_Mutation_p.S390L|ERG_ENST00000288319.7_Missense_Mutation_p.S413L	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0			Y -> C (in LQT2). {ECO:0000269|PubMed:15840476}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.S420L(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CGGGAGGTCTGAGGGGTACTT	0.597			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NaN		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	1	Substitution - Missense(1)		urinary_tract(1)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(1258-1260)TCA>TTA		ets-related isoform 4							72.0	72.0	72.0					21																	39755527		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755527G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1259C>T	21.37:g.39755527G>A	ENSP00000414150:p.Ser420Leu					ERG_uc002yxa.2_Missense_Mutation_p.S413L|ERG_uc011aek.1_Missense_Mutation_p.S321L|ERG_uc010gnv.2_Missense_Mutation_p.S297L|ERG_uc010gnx.2_Missense_Mutation_p.S396L|ERG_uc011ael.1_Missense_Mutation_p.S420L|ERG_uc002yxb.2_Missense_Mutation_p.S396L	p.S420L	NM_001136155	NP_001129627	P11308	ERG_HUMAN			12	1554	-		Prostate(19;3.6e-06)	420					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1259C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944540	0.92593	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.2	5.2	0.72013	.	0.063724	0.64402	D	0.000005	T	0.71117	0.3302	M	0.76574	2.34	0.80722	D	1	D;D;P;D	0.62365	0.968;0.97;0.876;0.991	P;P;P;P	0.60682	0.758;0.781;0.759;0.878	T	0.75224	-0.3393	10	0.72032	D	0.01	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	420;389;396;413	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	L	389;390;413;297;396;420;397;396;321;420	ENSP00000381877:S389L;ENSP00000381879:S390L;ENSP00000288319:S413L;ENSP00000381871:S297L;ENSP00000381882:S396L;ENSP00000414150:S420L;ENSP00000381881:S397L;ENSP00000394694:S396L;ENSP00000396268:S321L;ENSP00000381891:S420L	ENSP00000288319:S413L	S	-	2	0	ERG	38677397	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	TCA		0.597	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2		NM_182918		62	71	0	0	0	0.01441	0	62	71		
BRWD1	54014	broad.mit.edu	37	21	40559037	40559037	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:40559037G>A	ENST00000333229.2	-	42	7205	c.6878C>T	c.(6877-6879)tCt>tTt	p.S2293F	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2293					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S2293F(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCACTTTCAGAATTTATGGT	0.343																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(6877-6879)TCT>TTT		bromodomain and WD repeat domain containing 1							61.0	63.0	62.0					21																	40559037		2202	4299	6501	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40559037G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6878C>T	21.37:g.40559037G>A	ENSP00000330753:p.Ser2293Phe					BRWD1_uc010goc.1_Missense_Mutation_p.S936F	p.S2293F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			42	7017	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2293					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6878C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463212	0.43736	.	.	ENSG00000185658	ENST00000333229	T	0.56444	0.46	5.32	4.38	0.52667	.	0.758088	0.12006	N	0.508329	T	0.45478	0.1344	L	0.50333	1.59	0.80722	D	1	P	0.40875	0.731	B	0.32724	0.151	T	0.53229	-0.8468	10	0.59425	D	0.04	-9.6866	13.4735	0.61295	0.0:0.0:0.8442:0.1558	.	2293	Q9NSI6	BRWD1_HUMAN	F	2293	ENSP00000330753:S2293F	ENSP00000330753:S2293F	S	-	2	0	BRWD1	39480907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.240000	0.51368	2.648000	0.89879	0.650000	0.86243	TCT		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		56	146	0	0	0	0.01441	0	56	146		
PCNT	5116	broad.mit.edu	37	21	47851851	47851851	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr21:47851851G>C	ENST00000359568.5	+	38	8580	c.8473G>C	c.(8473-8475)Gag>Cag	p.E2825Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2825					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E2825Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCTTGAGGCTGAGGCTCAGAA	0.572																																						uc002zji.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(8473-8475)GAG>CAG		pericentrin							60.0	55.0	57.0					21																	47851851		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851851G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8473G>C	21.37:g.47851851G>C	ENSP00000352572:p.Glu2825Gln					PCNT_uc002zjj.2_Missense_Mutation_p.E2707Q	p.E2825Q	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8580	+	Breast(49;0.112)		2825			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8473G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243090	0.22796	.	.	ENSG00000160299	ENST00000359568	T	0.01745	4.66	5.21	4.33	0.51752	.	0.505488	0.14870	N	0.293573	T	0.01940	0.0061	N	0.20986	0.625	0.25101	N	0.990787	P;P	0.41673	0.759;0.647	B;B	0.37692	0.256;0.131	T	0.50215	-0.8854	10	0.56958	D	0.05	.	14.1788	0.65559	0.0:0.1848:0.8152:0.0	.	2707;2825	O95613-2;O95613	.;PCNT_HUMAN	Q	2825	ENSP00000352572:E2825Q	ENSP00000352572:E2825Q	E	+	1	0	PCNT	46676279	0.997000	0.39634	0.119000	0.21687	0.010000	0.07245	3.051000	0.49885	1.342000	0.45619	0.655000	0.94253	GAG		0.572	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		9	45	0	0	0	0.004482	0	9	45		
BCL2L13	23786	broad.mit.edu	37	22	18209590	18209590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:18209590G>C	ENST00000317582.5	+	7	1095	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	BCL2L13_ENST00000543133.1_Missense_Mutation_p.E88Q|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E126Q|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.E88Q	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	250					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.E250Q(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGGCAGTCTGAGAGCTTACC	0.537																																						uc002zmw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(748-750)GAG>CAG		BCL2-like 13 (apoptosis facilitator)							78.0	64.0	69.0					22																	18209590		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18209590G>C	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.748G>C	22.37:g.18209590G>C	ENSP00000318883:p.Glu250Gln					BCL2L13_uc002zmx.2_Missense_Mutation_p.E88Q|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.E88Q|BCL2L13_uc011agk.1_Missense_Mutation_p.E126Q|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Missense_Mutation_p.E88Q|BCL2L13_uc002zna.2_5'UTR	p.E250Q	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	7	966	+		all_epithelial(15;0.123)	250			A.		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.748G>C	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112151	0.56398	.	.	ENSG00000099968	ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612	T;T;T;T	0.55413	1.86;0.54;0.52;0.54	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	L	0.56769	1.78	0.39869	D	0.973484	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	T	0.67515	-0.5651	10	0.42905	T	0.14	-19.7747	20.1577	0.98120	0.0:0.0:1.0:0.0	.	126;250	B7Z238;Q9BXK5	.;B2L13_HUMAN	Q	250;88;126;88	ENSP00000318883:E250Q;ENSP00000437667:E88Q;ENSP00000441344:E126Q;ENSP00000338932:E88Q	ENSP00000318883:E250Q	E	+	1	0	BCL2L13	16589590	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	4.677000	0.61634	2.767000	0.95098	0.655000	0.94253	GAG		0.537	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1		NM_015367		8	52	0	0	0	0.00308	0	8	52		
MAPK1	5594	broad.mit.edu	37	22	22161970	22161970	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:22161970G>A	ENST00000215832.6	-	2	473	c.285C>T	c.(283-285)atC>atT	p.I95I	MAPK1_ENST00000398822.3_Silent_p.I95I|MAPK1_ENST00000544786.1_Silent_p.I95I	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|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)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.I95I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TCATTTGCTCGATGGTTGGTG	0.403																																						uc002zvn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(283-285)ATC>ATT		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						199.0	157.0	171.0					22																	22161970		2203	4300	6503	SO:0001819	synonymous_variant	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22161970G>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.285C>T	22.37:g.22161970G>A						MAPK1_uc002zvo.2_Silent_p.I95I|MAPK1_uc010gtk.1_Silent_p.I95I	p.I95I	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	2	525	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	95			Protein kinase.		A8CZ64	Silent	SNP	ENST00000215832.6	37	c.285C>T	CCDS13795.1																																																																																				0.403	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2				8	110	0	0	0	0.00308	0	8	110		
ZNF280A	129025	broad.mit.edu	37	22	22868615	22868615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:22868615C>T	ENST00000302097.3	-	2	1592	c.1340G>A	c.(1339-1341)aGa>aAa	p.R447K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACCCTCCTTCTGCTGTGCCT	0.413																																						uc002zwe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1339-1341)AGA>AAA		zinc finger protein 280A							101.0	96.0	98.0					22																	22868615		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868615C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1340G>A	22.37:g.22868615C>T	ENSP00000302855:p.Arg447Lys					LOC96610_uc011aim.1_Intron	p.R447K	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1593	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	447						Missense_Mutation	SNP	ENST00000302097.3	37	c.1340G>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.350520	0.00219	.	.	ENSG00000169548	ENST00000302097	T	0.60040	0.22	3.61	-0.0195	0.13959	.	.	.	.	.	T	0.24586	0.0596	N	0.03253	-0.375	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.25950	-1.0117	9	0.05620	T	0.96	0.5147	5.7924	0.18367	0.0:0.4672:0.0:0.5328	.	447	P59817	Z280A_HUMAN	K	447	ENSP00000302855:R447K	ENSP00000302855:R447K	R	-	2	0	ZNF280A	21198615	0.628000	0.27138	0.000000	0.03702	0.001000	0.01503	1.093000	0.30939	-0.001000	0.14495	-0.345000	0.07892	AGA		0.413	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3		NM_080740		33	143	0	0	0	0.013726	0	33	143		
CRYBA4	1413	broad.mit.edu	37	22	27019252	27019252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:27019252G>C	ENST00000354760.3	+	3	129	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	32	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.E32Q(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTTCACGGCCGAGTGCCCCAG	0.592																																						uc003acz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(94-96)GAG>CAG		crystallin, beta A4							85.0	87.0	87.0					22																	27019252		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27019252G>C		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.94G>C	22.37:g.27019252G>C	ENSP00000346805:p.Glu32Gln						p.E32Q	NM_001886	NP_001877	P53673	CRBA4_HUMAN			3	129	+			32			Beta/gamma crystallin 'Greek key' 1.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.94G>C	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997806	0.54147	.	.	ENSG00000196431	ENST00000354760	T	0.76060	-0.99	4.44	3.4	0.38934	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.121271	0.53938	N	0.000051	T	0.79811	0.4510	M	0.91972	3.26	0.51233	D	0.999916	B	0.26195	0.144	B	0.31191	0.125	T	0.80817	-0.1213	10	0.87932	D	0	.	12.0968	0.53758	0.0:0.1748:0.8252:0.0	.	32	P53673	CRBA4_HUMAN	Q	32	ENSP00000346805:E32Q	ENSP00000346805:E32Q	E	+	1	0	CRYBA4	25349252	1.000000	0.71417	0.836000	0.33094	0.911000	0.54048	4.211000	0.58507	1.064000	0.40671	0.650000	0.86243	GAG		0.592	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1		NM_001886		15	90	0	0	0	0.003163	0	15	90		
MYH9	4627	broad.mit.edu	37	22	36681274	36681274	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:36681274G>A	ENST00000216181.5	-	38	5606	c.5376C>T	c.(5374-5376)gtC>gtT	p.V1792V	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1792					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.V1792V(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTGCAGCTTGACCTTAAGCT	0.587			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(5374-5376)GTC>GTT		myosin, heavy polypeptide 9, non-muscle							143.0	115.0	125.0					22																	36681274		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681274G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5376C>T	22.37:g.36681274G>A							p.V1792V	NM_002473	NP_002464	P35579	MYH9_HUMAN			38	5607	-			1792			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5376C>T	CCDS13927.1																																																																																				0.587	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		26	88	0	0	0	0.004656	0	26	88		
TCF20	6942	broad.mit.edu	37	22	42609885	42609885	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:42609885G>T	ENST00000359486.3	-	1	1563	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y	TCF20_ENST00000335626.4_Missense_Mutation_p.S476Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S476Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGGGCATCAGAAAGTAACAT	0.478																																						uc003bcj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(1426-1428)TCT>TAT		transcription factor 20 isoform 1							122.0	126.0	125.0					22																	42609885		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609885G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1427C>A	22.37:g.42609885G>T	ENSP00000352463:p.Ser476Tyr					TCF20_uc003bck.1_Missense_Mutation_p.S476Y|TCF20_uc003bnt.2_Missense_Mutation_p.S476Y	p.S476Y	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	1561	-			476					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1427C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808708	0.70797	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35973	1.28;1.28	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.61160	0.2325	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.966	T	0.58994	-0.7537	10	0.87932	D	0	-15.9991	20.8794	0.99867	0.0:0.0:1.0:0.0	.	476;476	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	476	ENSP00000352463:S476Y;ENSP00000335561:S476Y	ENSP00000335561:S476Y	S	-	2	0	TCF20	40939829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.941000	0.99782	0.655000	0.94253	TCT		0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		31	197	1	0	1.55811e-20	0.008361	1.63806e-20	31	197		
TCF20	6942	broad.mit.edu	37	22	42610021	42610021	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:42610021G>C	ENST00000359486.3	-	1	1427	c.1291C>G	c.(1291-1293)Cat>Gat	p.H431D	TCF20_ENST00000335626.4_Missense_Mutation_p.H431D	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.H431D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTGCAGCATGAGAATTAGGA	0.488																																						uc003bcj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(1291-1293)CAT>GAT		transcription factor 20 isoform 1							121.0	121.0	121.0					22																	42610021		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610021G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1291C>G	22.37:g.42610021G>C	ENSP00000352463:p.His431Asp					TCF20_uc003bck.1_Missense_Mutation_p.H431D|TCF20_uc003bnt.2_Missense_Mutation_p.H431D	p.H431D	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	1425	-			431					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1291C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269647	0.40095	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.33438	1.41;1.41	6.17	5.16	0.70880	.	0.070853	0.64402	D	0.000017	T	0.30510	0.0767	L	0.47716	1.5	0.80722	D	1	B;B	0.34015	0.435;0.309	B;B	0.33620	0.167;0.081	T	0.06516	-1.0822	10	0.48119	T	0.1	-19.4088	15.4602	0.75349	0.066:0.0:0.934:0.0	.	431;431	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	431	ENSP00000352463:H431D;ENSP00000335561:H431D	ENSP00000335561:H431D	H	-	1	0	TCF20	40939965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.932000	0.75869	1.616000	0.50265	0.655000	0.94253	CAT		0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		27	120	0	0	0	0.005443	0	27	120		
MCAT	27349	broad.mit.edu	37	22	43538972	43538972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:43538972G>A	ENST00000290429.6	-	1	428	c.383C>T	c.(382-384)tCg>tTg	p.S128L	MCAT_ENST00000327555.5_Missense_Mutation_p.S128L|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	128					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)	p.S128L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				AGCGGCCAGCGATGCCACGAA	0.682																																						uc003bdl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(382-384)TCG>TTG		mitochondrial malonyltransferase isoform a							18.0	16.0	17.0					22																	43538972		2200	4299	6499	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43538972G>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.383C>T	22.37:g.43538972G>A	ENSP00000290429:p.Ser128Leu					MCAT_uc003bdm.1_Missense_Mutation_p.S128L	p.S128L	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN			1	432	-		Ovarian(80;0.0694)	128					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.383C>T	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190008	0.94923	.	.	ENSG00000100294	ENST00000327555;ENST00000290429	T;T	0.42513	0.97;0.97	4.6	4.6	0.57074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.85868	0.1414	10	0.87932	D	0	-35.372	17.6259	0.88093	0.0:0.0:1.0:0.0	.	128;128	B0QY72;Q8IVS2	.;FABD_HUMAN	L	128	ENSP00000331306:S128L;ENSP00000290429:S128L	ENSP00000290429:S128L	S	-	2	0	MCAT	41868916	1.000000	0.71417	0.977000	0.42913	0.603000	0.37013	7.895000	0.87343	2.394000	0.81467	0.467000	0.42956	TCG		0.682	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2		NM_173467		3	5	0	0	0	0.009096	0	3	5		
SCUBE1	80274	broad.mit.edu	37	22	43634897	43634897	+	Missense_Mutation	SNP	C	C	T	rs200592539		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:43634897C>T	ENST00000360835.4	-	7	917	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	SCUBE1_ENST00000290460.7_Missense_Mutation_p.R294Q|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	264	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.R264Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCAGCTGCATCGCACGCCAGT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19783	0.001		0.0	False		,,,				2504	0.0					uc003bdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(790-792)CGA>CAA		signal peptide, CUB domain, EGF-like 1							70.0	57.0	61.0					22																	43634897		2202	4300	6502	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43634897C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.791G>A	22.37:g.43634897C>T	ENSP00000354080:p.Arg264Gln					SCUBE1_uc003bdu.1_Missense_Mutation_p.R294Q	p.R264Q	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			7	879	-		all_neural(38;0.0414)|Ovarian(80;0.07)	264			EGF-like 5 (Potential).|EGF-like 6 (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.791G>A	CCDS14048.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	18.74|18.74	3.688628|3.688628	0.68271|0.68271	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000360835;ENST00000434132;ENST00000290460	.|D;D	.|0.96491	.|-4.03;-4.03	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Epidermal growth factor-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95159|0.95159	0.8431|0.8431	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|P;D	.|0.63046	.|0.818;0.992	.|B;D	.|0.64687	.|0.217;0.928	D|D	0.93387|0.93387	0.6748|0.6748	6|10	0.20519|0.16420	T|T	0.43|0.52	.|.	19.019|19.019	0.92905|0.92905	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|294;264	.|B1AH90;Q8IWY4	.|.;SCUB1_HUMAN	N|Q	57|264;264;294	.|ENSP00000354080:R264Q;ENSP00000290460:R294Q	ENSP00000370642:D57N|ENSP00000290460:R294Q	D|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41964841|41964841	0.646000|0.646000	0.27295|0.27295	0.948000|0.948000	0.38648|0.38648	0.240000|0.240000	0.25518|0.25518	1.346000|1.346000	0.33964|0.33964	2.596000|2.596000	0.87737|0.87737	0.609000|0.609000	0.83330|0.83330	GAT|CGA		0.607	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3		NM_173050		8	21	0	0	0	0.006214	0	8	21		
CELSR1	9620	broad.mit.edu	37	22	46932099	46932099	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:46932099C>T	ENST00000262738.3	-	1	968	c.969G>A	c.(967-969)gtG>gtA	p.V323V	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Silent_p.V323V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	323	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.V323V(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACGGCTTTCACCCTGAGGA	0.642																																						uc003bhw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(967-969)GTG>GTA		cadherin EGF LAG seven-pass G-type receptor 1							132.0	107.0	116.0					22																	46932099		2202	4300	6502	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46932099C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.969G>A	22.37:g.46932099C>T							p.V323V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	969	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	323			Extracellular (Potential).|Cadherin 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.969G>A	CCDS14076.1																																																																																				0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		7	62	0	0	0	0.001984	0	7	62		
MIOX	55586	broad.mit.edu	37	22	50928201	50928201	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr22:50928201C>T	ENST00000216075.6	+	10	848	c.774C>T	c.(772-774)tgC>tgT	p.C258C	MIOX_ENST00000395733.3_Missense_Mutation_p.P215S|MIOX_ENST00000395732.3_Missense_Mutation_p.P254S	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	258					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)	p.C258C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACACCAAGTGCCCGGACCTGC	0.642																																						uc003bll.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(772-774)TGC>TGT		myo-inositol oxygenase							69.0	67.0	68.0					22																	50928201		2203	4300	6503	SO:0001819	synonymous_variant	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50928201C>T	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.774C>T	22.37:g.50928201C>T						MIOX_uc003blm.1_Missense_Mutation_p.P254S|MIOX_uc003bln.1_Missense_Mutation_p.P215S	p.C258C	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	888	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	258					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Silent	SNP	ENST00000216075.6	37	c.774C>T	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215837	0.39102	.	.	ENSG00000100253	ENST00000395733;ENST00000395732	.	.	.	5.22	-0.852	0.10713	.	.	.	.	.	T	0.08313	0.0207	.	.	.	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.06405	0.002;0.0	T	0.36817	-0.9732	7	0.02654	T	1	-25.3789	0.9074	0.01287	0.1567:0.3204:0.1529:0.3699	.	215;254	Q9UGB7-2;A6PVH2	.;.	S	215;254	.	ENSP00000379081:P254S	P	+	1	0	MIOX	49275067	0.005000	0.15991	0.675000	0.29917	0.784000	0.44337	0.005000	0.13129	0.530000	0.28619	0.655000	0.94253	CCC		0.642	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1		NM_017584		28	56	0	0	0	0.012213	0	28	56		
OXTR	5021	broad.mit.edu	37	3	8809175	8809175	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:8809175G>A	ENST00000316793.3	-	3	1323	c.699C>T	c.(697-699)ctC>ctT	p.L233L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	233					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.L233L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CAGCGGTCTTGAGCCGCAAGT	0.657																																						uc003brc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(697-699)CTC>CTT		oxytocin receptor	Carbetocin(DB01282)						17.0	17.0	17.0					3																	8809175		2196	4297	6493	SO:0001819	synonymous_variant	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809175G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.699C>T	3.37:g.8809175G>A							p.L233L	NM_000916	NP_000907	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1321	-			233			Cytoplasmic (Potential).		Q15071	Silent	SNP	ENST00000316793.3	37	c.699C>T	CCDS2570.1																																																																																				0.657	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2				4	14	0	0	0	0.009096	0	4	14		
OGG1	4968	broad.mit.edu	37	3	9792844	9792844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:9792844C>T	ENST00000344629.7	+	2	696	c.353C>T	c.(352-354)tCc>tTc	p.S118F	OGG1_ENST00000449570.2_Missense_Mutation_p.S118F|OGG1_ENST00000383826.5_Missense_Mutation_p.S118F|OGG1_ENST00000302003.7_Missense_Mutation_p.S118F|OGG1_ENST00000339511.5_Missense_Mutation_p.S118F|OGG1_ENST00000302036.7_Missense_Mutation_p.S118F|OGG1_ENST00000302008.8_Missense_Mutation_p.S118F|OGG1_ENST00000349503.5_Missense_Mutation_p.S118F			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	118					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.S118F(4)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TCCGTGGACTCCCACTTCCAA	0.542								Base excision repair (BER), DNA glycosylases																														uc003bsi.2		NaN																	4	Substitution - Missense(4)		urinary_tract(4)		0						c.(352-354)TCC>TTC	BER_DNA_glycosylases	8-oxoguanine DNA-glycosylase 1 isoform 1a							67.0	59.0	61.0					3																	9792844		2203	4300	6503	SO:0001583	missense	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9792844C>T	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.353C>T	3.37:g.9792844C>T	ENSP00000342851:p.Ser118Phe					OGG1_uc003bsh.2_Missense_Mutation_p.S118F|OGG1_uc003bsj.2_Missense_Mutation_p.S118F|OGG1_uc003bsk.2_Missense_Mutation_p.S118F|OGG1_uc003bsl.2_Missense_Mutation_p.S118F|OGG1_uc003bsm.2_Missense_Mutation_p.S118F|OGG1_uc003bsn.2_Missense_Mutation_p.S118F|OGG1_uc003bso.2_Missense_Mutation_p.S118F|OGG1_uc003bsp.1_5'Flank|OGG1_uc010hcm.1_5'Flank|OGG1_uc003bsq.1_5'Flank|OGG1_uc003bsr.1_5'Flank	p.S118F	NM_002542	NP_002533	O15527	OGG1_HUMAN			2	696	+	Medulloblastoma(99;0.227)		118					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.353C>T	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.298701|4.298701	0.81025|0.81025	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000426518|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	.|T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.54|5.54	4.66|4.66	0.58398|0.58398	.|8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	.|0.097312	.|0.64402	.|D	.|0.000001	T|T	0.68586|0.68586	0.3017|0.3017	M|M	0.61703|0.61703	1.905|1.905	0.39045|0.39045	D|D	0.960208|0.960208	.|P;D;D;D;D;D;P;D	.|0.76494	.|0.877;0.999;0.997;0.975;0.957;0.996;0.864;0.969	.|P;D;P;P;P;P;P;P	.|0.66196	.|0.699;0.942;0.793;0.81;0.616;0.852;0.679;0.6	T|T	0.74757|0.74757	-0.3557|-0.3557	5|10	.|0.87932	.|D	.|0	-15.5167|-15.5167	15.7241|15.7241	0.77740|0.77740	0.1379:0.8621:0.0:0.0|0.1379:0.8621:0.0:0.0	.|.	.|118;118;118;118;118;118;118;118	.|E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	S|F	28|118	.|ENSP00000305584:S118F;ENSP00000342851:S118F;ENSP00000306561:S118F;ENSP00000303132:S118F;ENSP00000345520:S118F;ENSP00000403598:S118F;ENSP00000305527:S118F;ENSP00000373337:S118F	.|ENSP00000305584:S118F	P|S	+|+	1|2	0|0	OGG1|OGG1	9767844|9767844	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.790000|3.790000	0.55461|0.55461	1.322000|1.322000	0.45245|0.45245	-0.181000|-0.181000	0.13052|0.13052	CCC|TCC		0.542	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2		NM_016821		21	31	0	0	0	0.012319	0	21	31		
IL17RC	84818	broad.mit.edu	37	3	9974537	9974537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:9974537C>T	ENST00000295981.3	+	18	1948	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.S506L|IL17RC_ENST00000383812.4_Missense_Mutation_p.S491L|IL17RC_ENST00000416074.2_Intron|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000455057.1_Missense_Mutation_p.S474L|CRELD1_ENST00000397170.3_5'Flank|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000413608.1_Intron	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	577					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.S577L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGTCCGCTCGGGGGGTGAG	0.692											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bua.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1729-1731)TCG>TTG		interleukin 17 receptor C isoform 1 precursor							9.0	12.0	11.0					3																	9974537		2036	4127	6163	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9974537C>T	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1730C>T	3.37:g.9974537C>T	ENSP00000295981:p.Ser577Leu		OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	661	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Missense_Mutation_p.S506L|IL17RC_uc011atp.1_Intron|IL17RC_uc003bud.2_Missense_Mutation_p.S47L|IL17RC_uc003bub.2_Missense_Mutation_p.S491L|IL17RC_uc010hct.2_Intron|IL17RC_uc010hcu.2_Intron|IL17RC_uc010hcv.2_Missense_Mutation_p.S474L|IL17RC_uc011atq.1_Missense_Mutation_p.S491L|IL17RC_uc003buc.2_Intron|IL17RC_uc003bue.2_Intron|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	p.S577L	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN			18	1966	+			577			Cytoplasmic (Potential).		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.1730C>T	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125503	0.06795	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000455057	T;T;T;T	0.46063	1.88;1.86;1.88;0.88	4.4	-4.46	0.03536	.	1.922730	0.02582	N	0.098990	T	0.17109	0.0411	N	0.08118	0	0.09310	N	0.999992	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.08472	-1.0720	10	0.12103	T	0.63	-0.3118	1.2054	0.01893	0.2751:0.3104:0.2687:0.1457	.	491;474;491;577;506	Q8NAC3-4;E9PHG1;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;I17RC_HUMAN;.	L	491;577;506;474	ENSP00000373323:S491L;ENSP00000295981:S577L;ENSP00000384969:S506L;ENSP00000407894:S474L	ENSP00000295981:S577L	S	+	2	0	IL17RC	9949537	0.000000	0.05858	0.038000	0.18304	0.417000	0.31264	-1.780000	0.01775	-0.592000	0.05851	-0.475000	0.04921	TCG		0.692	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732		4	7	0	0	0	0.001984	0	4	7		
TMEM40	55287	broad.mit.edu	37	3	12783971	12783971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:12783971C>T	ENST00000314124.7	-	5	693	c.337G>A	c.(337-339)Gag>Aag	p.E113K	TMEM40_ENST00000435575.1_Missense_Mutation_p.E37K|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000264728.8_Missense_Mutation_p.E113K|TMEM40_ENST00000435218.2_Missense_Mutation_p.E83K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E129K	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	113						integral component of membrane (GO:0016021)		p.E113K(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGTTGAAGCTCATCCTTCAAA	0.507																																						uc003bxg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(337-339)GAG>AAG		transmembrane protein 40							133.0	130.0	131.0					3																	12783971		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12783971C>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.337G>A	3.37:g.12783971C>T	ENSP00000322837:p.Glu113Lys					TMEM40_uc003bxh.1_Missense_Mutation_p.E83K|TMEM40_uc003bxi.1_Missense_Mutation_p.E37K|TMEM40_uc011auv.1_Missense_Mutation_p.E129K	p.E113K	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN			5	464	-			113					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.337G>A	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494189	0.26774	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	4.62	4.62	0.57501	.	0.139520	0.32533	N	0.005964	T	0.44350	0.1289	M	0.61703	1.905	0.22240	N	0.999268	P;B;P;P	0.41848	0.728;0.447;0.763;0.728	B;B;B;B	0.41764	0.366;0.264;0.234;0.366	T	0.49818	-0.8899	9	0.87932	D	0	-25.5303	13.3255	0.60457	0.0:1.0:0.0:0.0	.	129;37;83;113	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	K	113;37;83;16;113;129	.	ENSP00000264728:E113K	E	-	1	0	TMEM40	12758971	0.261000	0.24063	0.245000	0.24217	0.019000	0.09904	3.240000	0.51368	2.280000	0.76307	0.655000	0.94253	GAG		0.507	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2		NM_018306		26	196	0	0	0	0.007291	0	26	196		
FBXL2	25827	broad.mit.edu	37	3	33400807	33400807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:33400807C>G	ENST00000484457.1	+	4	244	c.153C>G	c.(151-153)aaC>aaG	p.N51K	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.N51K|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.N51K	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.N51K(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATGGAAGCAACTGGCAAAGAA	0.378																																						uc003cfp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(151-153)AAC>AAG		F-box and leucine-rich repeat protein 2							71.0	76.0	74.0					3																	33400807		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33400807C>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.153C>G	3.37:g.33400807C>G	ENSP00000417601:p.Asn51Lys					FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_5'UTR|FBXL2_uc011axp.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|FBXL2_uc011axs.1_RNA	p.N51K	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			4	224	+			51			F-box.			Missense_Mutation	SNP	ENST00000484457.1	37	c.153C>G	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430726	0.43122	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000507198	T;T;T	0.41400	1.0;1.0;1.0	5.45	5.45	0.79879	F-box domain, cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.64659	-0.6355	10	0.36615	T	0.2	.	12.6476	0.56744	0.0:0.9202:0.0:0.0797	.	51	Q9UKC9	FBXL2_HUMAN	K	51	ENSP00000417601:N51K;ENSP00000441228:N51K;ENSP00000426163:N51K	ENSP00000408895:N51K	N	+	3	2	FBXL2	33375811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.465000	0.45075	2.941000	0.99782	0.655000	0.94253	AAC		0.378	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2		NM_012157		9	73	0	0	0	0.008291	0	9	73		
GORASP1	64689	broad.mit.edu	37	3	39139937	39139937	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:39139937C>T	ENST00000319283.3	-	9	1934	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	GORASP1_ENST00000422110.2_Silent_p.L216L|GORASP1_ENST00000476334.1_5'UTR|GORASP1_ENST00000479927.1_Silent_p.L276L	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	371					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.L371L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGCTGTCCAGGAAGGAGA	0.592																																						uc003ciw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1111-1113)CTG>CTA		Golgi reassembly stacking protein 1							55.0	54.0	54.0					3																	39139937		2203	4300	6503	SO:0001819	synonymous_variant	64689				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane		g.chr3:39139937C>T	AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.1113G>A	3.37:g.39139937C>T						GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Silent_p.L276L|GORASP1_uc003ciz.1_Silent_p.L216L	p.L371L	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	9	1211	-			371					B3KWC8|Q3SYG7|Q8N272|Q96H42	Silent	SNP	ENST00000319283.3	37	c.1113G>A	CCDS2681.1																																																																																				0.592	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1				15	33	0	0	0	0.00245	0	15	33		
CCDC13	152206	broad.mit.edu	37	3	42777313	42777313	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:42777313C>T	ENST00000310232.6	-	10	1340	c.1257G>A	c.(1255-1257)ctG>ctA	p.L419L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	419								p.L419L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCTCGCTGTTCAGTTGCTGGT	0.622																																						uc003cly.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1255-1257)CTG>CTA		coiled-coil domain containing 13							96.0	76.0	83.0					3																	42777313		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42777313C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1257G>A	3.37:g.42777313C>T							p.L419L	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			10	1341	-			419			Potential.			Silent	SNP	ENST00000310232.6	37	c.1257G>A	CCDS2705.1																																																																																				0.622	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1		NM_144719		22	63	0	0	0	0.010504	0	22	63		
CDCP1	64866	broad.mit.edu	37	3	45152268	45152268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:45152268G>A	ENST00000296129.1	-	4	855	c.721C>T	c.(721-723)Cca>Tca	p.P241S	CDCP1_ENST00000425231.2_Missense_Mutation_p.P241S|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	241						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P241S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AAGCCTTCTGGGTAGTTGGCA	0.542																																						uc003com.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(721-723)CCA>TCA		CUB domain-containing protein 1 isoform 1							164.0	158.0	160.0					3																	45152268		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45152268G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.721C>T	3.37:g.45152268G>A	ENSP00000296129:p.Pro241Ser					CDCP1_uc003con.2_Missense_Mutation_p.P241S	p.P241S	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	4	856	-			241			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.721C>T	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910673	0.92107	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.64991	-0.13;-0.13	5.87	5.87	0.94306	CUB (1);	0.047319	0.85682	D	0.000000	T	0.80270	0.4592	M	0.71581	2.175	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79995	-0.1568	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	241;241	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	S	241	ENSP00000296129:P241S;ENSP00000399342:P241S	ENSP00000296129:P241S	P	-	1	0	CDCP1	45127272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.103000	0.77014	2.941000	0.99782	0.655000	0.94253	CCA		0.542	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3		NM_022842		94	169	0	0	0	0.01441	0	94	169		
CCR3	1232	broad.mit.edu	37	3	46307616	46307616	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:46307616C>T	ENST00000357422.2	+	4	1510	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	CCR3_ENST00000395940.2_Missense_Mutation_p.H323Y|CCR3_ENST00000541018.1_Missense_Mutation_p.H323Y|CCR3_ENST00000545097.1_Missense_Mutation_p.H344Y|CCR3_ENST00000395942.2_Missense_Mutation_p.H323Y			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	323					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.H323Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTTGCTCATGCACCTGGGCAG	0.532																																						uc003cpg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(967-969)CAC>TAC		CC chemokine receptor 3 isoform 1							90.0	78.0	82.0					3																	46307616		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307616C>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.967C>T	3.37:g.46307616C>T	ENSP00000350003:p.His323Tyr					CCR3_uc003cpi.1_Missense_Mutation_p.H323Y|CCR3_uc003cpj.1_Missense_Mutation_p.H323Y|CCR3_uc003cpk.1_Missense_Mutation_p.H344Y|CCR3_uc010hjb.1_Missense_Mutation_p.H341Y|CCR3_uc003cpl.1_Missense_Mutation_p.H356Y	p.H323Y	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1510	+			323			Cytoplasmic (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.967C>T	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.453103	0.01071	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.67698	-0.24;-0.28;-0.24;-0.24;-0.24	5.66	-4.31	0.03698	.	0.770020	0.11576	N	0.550212	T	0.31544	0.0800	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.33929	-0.9849	10	0.07813	T	0.8	.	5.4302	0.16448	0.2237:0.4108:0.0:0.3654	.	344;323	F5GWL6;P51677	.;CCR3_HUMAN	Y	323;344;323;323;323	ENSP00000350003:H323Y;ENSP00000441600:H344Y;ENSP00000440097:H323Y;ENSP00000379271:H323Y;ENSP00000379273:H323Y	ENSP00000350003:H323Y	H	+	1	0	CCR3	46282620	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.015000	0.03637	-0.391000	0.07763	-0.137000	0.14449	CAC		0.532	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2				29	56	0	0	0	0.00632	0	29	56		
NBEAL2	23218	broad.mit.edu	37	3	47044731	47044731	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:47044731G>A	ENST00000450053.3	+	35	5831	c.5652G>A	c.(5650-5652)gtG>gtA	p.V1884V	NBEAL2_ENST00000292309.5_Silent_p.V1700V|NBEAL2_ENST00000383740.2_Silent_p.V163V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1884					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.V1261V(1)|p.V1884V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGCCAAAGTGAGCACCCCAC	0.637																																						uc003cqp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(5650-5652)GTG>GTA		neurobeachin-like 2							35.0	40.0	38.0					3																	47044731		1974	4143	6117	SO:0001819	synonymous_variant	23218						binding	g.chr3:47044731G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5652G>A	3.37:g.47044731G>A						NBEAL2_uc010hjm.1_Silent_p.V1261V|NBEAL2_uc010hjn.1_Silent_p.V280V|NBEAL2_uc010hjo.1_5'Flank	p.V1884V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	35	5831	+		Acute lymphoblastic leukemia(5;0.0534)	1884					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.5652G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269818	0.23221	.	.	ENSG00000160796	ENST00000443829	.	.	.	5.01	2.26	0.28386	.	.	.	.	.	T	0.46425	0.1392	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26087	-1.0113	4	.	.	.	.	3.9361	0.09307	0.1398:0.3861:0.3824:0.0918	.	.	.	.	K	253	.	.	E	+	1	0	NBEAL2	47019735	1.000000	0.71417	0.966000	0.40874	0.972000	0.66771	0.612000	0.24283	0.297000	0.22615	-0.136000	0.14681	GAG		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		XM_291064		4	32	0	0	0	0.000602	0	4	32		
SETD2	29072	broad.mit.edu	37	3	47164187	47164187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:47164187C>T	ENST00000409792.3	-	3	1981	c.1939G>A	c.(1939-1941)Gat>Aat	p.D647N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	647					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.D144N(1)|p.D647N(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATACTATCATGGCTATCA	0.318			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		urinary_tract(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(1939-1941)GAT>AAT		SET domain containing 2							45.0	49.0	48.0					3																	47164187		2202	4299	6501	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47164187C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1939G>A	3.37:g.47164187C>T	ENSP00000386759:p.Asp647Asn					SETD2_uc003cqv.2_Missense_Mutation_p.D636N	p.D647N	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	1992	-		Acute lymphoblastic leukemia(5;0.0169)	647					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.1939G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260671	0.39995	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90385	-2.66;1.19	5.44	4.57	0.56435	.	0.211827	0.32430	N	0.006102	D	0.82342	0.5016	N	0.19112	0.55	0.27192	N	0.960399	B;B	0.21905	0.062;0.036	B;B	0.15870	0.014;0.014	T	0.75619	-0.3255	10	0.87932	D	0	.	9.4365	0.38641	0.1419:0.7863:0.0:0.0718	.	647;647	F2Z317;Q9BYW2	.;SETD2_HUMAN	N	647;647;647;603	ENSP00000386759:D647N;ENSP00000416401:D603N	ENSP00000386759:D647N	D	-	1	0	SETD2	47139191	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.367000	0.44213	1.529000	0.49120	0.655000	0.94253	GAT		0.318	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		17	110	0	0	0	0.004007	0	17	110		
STAB1	23166	broad.mit.edu	37	3	52538540	52538540	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:52538540C>A	ENST00000321725.6	+	11	1290	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	405	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.S405Y(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCGTCTCCTCCTTCTCC	0.642																																						uc003dej.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(1213-1215)TCC>TAC		stabilin 1 precursor							91.0	87.0	88.0					3																	52538540		2203	4299	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538540C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1214C>A	3.37:g.52538540C>A	ENSP00000312946:p.Ser405Tyr					STAB1_uc003dei.1_Missense_Mutation_p.S405Y	p.S405Y	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	11	1288	+			405			Extracellular (Potential).|FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1214C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	8.269	0.812840	0.16537	.	.	ENSG00000010327	ENST00000321725	T	0.72835	-0.69	3.92	-1.9	0.07665	FAS1 domain (4);	1.264400	0.05850	N	0.621004	T	0.54013	0.1832	L	0.35414	1.06	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.12156	0.003;0.007	T	0.29882	-0.9997	10	0.28530	T	0.3	.	3.5829	0.07959	0.5004:0.2887:0.0:0.2109	.	405;405	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	Y	405	ENSP00000312946:S405Y	ENSP00000312946:S405Y	S	+	2	0	STAB1	52513580	0.007000	0.16637	0.004000	0.12327	0.011000	0.07611	1.243000	0.32767	-0.171000	0.10797	-0.314000	0.08810	TCC		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		13	60	1	0	7.93312e-07	0.00245	8.1363e-07	13	60		
RFT1	91869	broad.mit.edu	37	3	53159984	53159984	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:53159984G>A	ENST00000296292.3	-	2	151	c.90C>T	c.(88-90)gtC>gtT	p.V30V	RFT1_ENST00000394738.3_Silent_p.V30V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	30					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)	p.V30V(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ATGCATTCAAGACAAAGGTGA	0.393																																						uc003dgj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(88-90)GTC>GTT		RFT1 homolog							104.0	85.0	91.0					3																	53159984		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53159984G>A	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.90C>T	3.37:g.53159984G>A						RFT1_uc003dgk.2_Silent_p.V30V	p.V30V	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	2	144	-			30			Helical; (Potential).		Q96J03	Silent	SNP	ENST00000296292.3	37	c.90C>T	CCDS2869.1																																																																																				0.393	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2		NM_052859		3	41	0	0	0	0.009096	0	3	41		
FLNB	2317	broad.mit.edu	37	3	58109122	58109122	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:58109122C>T	ENST00000295956.4	+	21	3594	c.3429C>T	c.(3427-3429)ctC>ctT	p.L1143L	FLNB_ENST00000429972.2_Silent_p.L1143L|FLNB_ENST00000490882.1_Silent_p.L1143L|FLNB_ENST00000357272.4_Silent_p.L1143L|FLNB_ENST00000358537.3_Silent_p.L1143L|FLNB_ENST00000493452.1_Silent_p.L974L|FLNB_ENST00000348383.5_Silent_p.L1143L|FLNB_ENST00000419752.2_Silent_p.L974L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1143	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.L1143L(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGCCAGGTCTCGAGCACGGGA	0.592																																						uc003djj.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(3427-3429)CTC>CTT		filamin B isoform 2							78.0	88.0	84.0					3																	58109122		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58109122C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3429C>T	3.37:g.58109122C>T						FLNB_uc010hne.2_Silent_p.L1143L|FLNB_uc003djk.2_Silent_p.L1143L|FLNB_uc010hnf.2_Silent_p.L1143L|FLNB_uc003djl.2_Silent_p.L974L|FLNB_uc003djm.2_Silent_p.L974L	p.L1143L	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3594	+			1143			Interaction with FBLP1.|Filamin 10.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3429C>T	CCDS2885.1																																																																																				0.592	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		57	119	0	0	0	0.01441	0	57	119		
CADPS	8618	broad.mit.edu	37	3	62423858	62423858	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:62423858T>C	ENST00000383710.4	-	28	4047	c.3698A>G	c.(3697-3699)tAc>tGc	p.Y1233C	CADPS_ENST00000357948.3_Missense_Mutation_p.Y1154C|CADPS_ENST00000283269.9_Missense_Mutation_p.Y1194C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1233	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.Y1194C(1)|p.Y1233C(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAAAGTCACGTAGGCGTCGGC	0.443																																						uc003dll.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)	3						c.(3697-3699)TAC>TGC		Ca2+-dependent secretion activator isoform 1							84.0	79.0	81.0					3																	62423858		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423858T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3698A>G	3.37:g.62423858T>C	ENSP00000373215:p.Tyr1233Cys					CADPS_uc003dlj.1_Missense_Mutation_p.Y188C|CADPS_uc003dlk.1_Missense_Mutation_p.Y681C|CADPS_uc003dlm.2_Missense_Mutation_p.Y1194C|CADPS_uc003dln.2_Missense_Mutation_p.Y1154C	p.Y1233C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	28	4058	-		Lung SC(41;0.0452)	1233			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3698A>G	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.00|19.00	3.741280|3.741280	0.69304|0.69304	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.32515	.|1.45;1.45;1.45	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61123|0.61123	0.2322|0.2322	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.992;0.995;0.993;0.997	T|T	0.67979|0.67979	-0.5530|-0.5530	5|10	.|0.87932	.|D	.|0	.|.	15.9214|15.9214	0.79580|0.79580	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1154;1194;1233;1238	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	A|C	225|1239;1233;1154;1194	.|ENSP00000373215:Y1233C;ENSP00000350632:Y1154C;ENSP00000283269:Y1194C	.|ENSP00000283269:Y1194C	T|Y	-|-	1|2	0|0	CADPS|CADPS	62398898|62398898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.991000|7.991000	0.88244|0.88244	2.156000|2.156000	0.67533|0.67533	0.524000|0.524000	0.50904|0.50904	ACG|TAC		0.443	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394		15	36	0	0	0	0.003163	0	15	36		
GXYLT2	727936	broad.mit.edu	37	3	73004392	73004393	+	Missense_Mutation	DNP	GA	GA	CT			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:73004392_73004393GA>CT	ENST00000389617.4	+	4	905_906	c.744_745GA>CT	c.(742-747)aaGAtt>aaCTtt	p.248_249KI>NF		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	248					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.I249F(1)|p.K248>?(1)|p.K248N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AAATCCCCAAGATTGGCTGGTA	0.475																																						uc003dpg.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)		0						c.(742-747)AAGATT>AACTTT		glycosyltransferase 8 domain containing 4																																				SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73004392_73004393GA>CT	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	Exception_encountered	3.37:g.73004392_73004393delinsCT	ENSP00000374268:p.K248_I249delinsNF						p.248_249KI>NF	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			4	744_745	+			248_249			Lumenal (Potential).			Missense_Mutation	DNP	ENST00000389617.4	37	c.744_745GA>CT	CCDS46870.1																																																																																				0.475	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1		NM_001080393		8	30	0	0	0	0.004672	0	8	30		
C3orf38	285237	broad.mit.edu	37	3	88205273	88205273	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:88205273C>G	ENST00000318887.3	+	3	788	c.478C>G	c.(478-480)Cta>Gta	p.L160V	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	160					apoptotic process (GO:0006915)			p.L158V(2)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GAATCCTTTTCTAGGACCACC	0.388																																						uc003dqw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(478-480)CTA>GTA		hypothetical protein LOC285237							70.0	67.0	68.0					3																	88205273		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205273C>G	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.478C>G	3.37:g.88205273C>G	ENSP00000322469:p.Leu160Val						p.L160V	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	789	+		Lung NSC(201;0.17)	160					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.478C>G	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390574	0.25118	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.93	0.313	0.15842	.	0.537909	0.19488	N	0.113044	T	0.31918	0.0812	M	0.64404	1.975	0.21841	N	0.99951	B	0.23249	0.082	B	0.21546	0.035	T	0.17410	-1.0370	9	0.29301	T	0.29	-0.6008	3.2578	0.06837	0.1086:0.4722:0.1174:0.3018	.	160	Q5JPI3	CC038_HUMAN	V	160	.	ENSP00000322469:L160V	L	+	1	2	C3orf38	88287963	0.005000	0.15991	0.484000	0.27391	0.941000	0.58515	0.114000	0.15520	0.094000	0.17404	0.563000	0.77884	CTA		0.388	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1		NM_173824		48	114	0	0	0	0.01441	0	48	114		
OR5K3	403277	broad.mit.edu	37	3	98110249	98110249	+	Missense_Mutation	SNP	C	C	T	rs376406284		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:98110249C>T	ENST00000383695.1	+	1	740	c.740C>T	c.(739-741)tCa>tTa	p.S247L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S247L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTCTCTGTGTCAATATTCTGT	0.353																																						uc011bgw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(739-741)TCA>TTA		olfactory receptor, family 5, subfamily K,							168.0	162.0	164.0					3																	98110249		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98110249C>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.740C>T	3.37:g.98110249C>T	ENSP00000373194:p.Ser247Leu						p.S247L	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	740	+			247			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.740C>T	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954938	0.34471	.	.	ENSG00000206536	ENST00000383695	T	0.35048	1.33	5.15	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.221220	0.23079	N	0.052171	T	0.35682	0.0940	L	0.53561	1.675	0.09310	N	1	B	0.23990	0.095	B	0.33254	0.16	T	0.36089	-0.9762	10	0.59425	D	0.04	-13.0311	8.019	0.30398	0.0:0.8143:0.0:0.1857	.	247	A6NET4	OR5K3_HUMAN	L	247	ENSP00000373194:S247L	ENSP00000373194:S247L	S	+	2	0	OR5K3	99592939	0.000000	0.05858	0.997000	0.53966	0.673000	0.39480	0.339000	0.19875	1.277000	0.44412	0.603000	0.83216	TCA		0.353	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1				70	134	0	0	0	0.01441	0	70	134		
GPR15	2838	broad.mit.edu	37	3	98251707	98251707	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:98251707C>T	ENST00000284311.3	+	1	965	c.830C>T	c.(829-831)tCa>tTa	p.S277L		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	277					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S277L(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TATTTACCCTCAGCTATTCTT	0.478																																						uc011bgy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(829-831)TCA>TTA		G protein-coupled receptor 15							94.0	83.0	87.0					3																	98251707		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251707C>T		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.830C>T	3.37:g.98251707C>T	ENSP00000284311:p.Ser277Leu						p.S277L	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	830	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	277			Extracellular (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.830C>T	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.421143	0.01126	.	.	ENSG00000154165	ENST00000284311	T	0.70164	-0.46	4.39	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	1.818140	0.02997	N	0.147648	T	0.51958	0.1705	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36065	-0.9763	10	0.23891	T	0.37	0.6567	7.7091	0.28667	0.1875:0.6315:0.1811:0.0	.	277	P49685	GPR15_HUMAN	L	277	ENSP00000284311:S277L	ENSP00000284311:S277L	S	+	2	0	GPR15	99734397	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	0.286000	0.18902	1.432000	0.47375	0.655000	0.94253	TCA		0.478	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1				22	143	0	0	0	0.012319	0	22	143		
GPR128	84873	broad.mit.edu	37	3	100354655	100354655	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:100354655A>G	ENST00000273352.3	+	5	850	c.582A>G	c.(580-582)agA>agG	p.R194R	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	194					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R194R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACACTTCCAGAAATGCTTCAC	0.373																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(580-582)AGA>AGG		G protein-coupled receptor 128 precursor							65.0	62.0	63.0					3																	100354655		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100354655A>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.582A>G	3.37:g.100354655A>G						GPR128_uc011bhc.1_5'UTR	p.R194R	NM_032787	NP_116176	Q96K78	GP128_HUMAN			5	850	+			194			Extracellular (Potential).		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.582A>G	CCDS2938.1																																																																																				0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1				34	56	0	0	0	0.013114	0	34	56		
TRMT10C	54931	broad.mit.edu	37	3	101284754	101284754	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:101284754C>G	ENST00000309922.6	+	2	1283	c.1129C>G	c.(1129-1131)Ccc>Gcc	p.P377A		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	377	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.P377A(1)									GCAATTCGTTCCCAAGAGAAA	0.343																																						uc003duz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1129-1131)CCC>GCC		RNA (guanine-9-) methyltransferase domain							46.0	45.0	46.0					3																	101284754		1816	4079	5895	SO:0001583	missense	54931				tRNA processing	mitochondrion	methyltransferase activity|protein binding	g.chr3:101284754C>G	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.1129C>G	3.37:g.101284754C>G	ENSP00000312356:p.Pro377Ala						p.P377A	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN			2	1277	+			377					Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.1129C>G	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525601	0.44969	.	.	ENSG00000174173	ENST00000309922	T	0.25250	1.81	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70872	-0.4754	10	0.87932	D	0	-40.7977	16.7772	0.85553	0.1301:0.8699:0.0:0.0	.	377	Q7L0Y3	MRRP1_HUMAN	A	377	ENSP00000312356:P377A	ENSP00000312356:P377A	P	+	1	0	RG9MTD1	102767444	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	7.416000	0.80143	1.554000	0.49487	0.563000	0.77884	CCC		0.343	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2		NM_017819		51	82	0	0	0	0.01441	0	51	82		
CD47	961	broad.mit.edu	37	3	107778373	107778373	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:107778373T>C	ENST00000361309.5	-	5	722	c.617A>G	c.(616-618)aAt>aGt	p.N206S	CD47_ENST00000355354.7_Missense_Mutation_p.N206S	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	206					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.N206S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GCCAGTAGCATTCTTTAATGA	0.284																																						uc003dwt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(616-618)AAT>AGT		CD47 antigen isoform 1 precursor							86.0	79.0	81.0					3																	107778373		1804	4059	5863	SO:0001583	missense	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107778373T>C		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.617A>G	3.37:g.107778373T>C	ENSP00000355361:p.Asn206Ser					CD47_uc003dwu.1_Missense_Mutation_p.N206S|CD47_uc003dwv.1_Missense_Mutation_p.N206S|CD47_uc003dww.1_Missense_Mutation_p.N206S	p.N206S	NM_001777	NP_001768	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		5	797	-			206			Extracellular (Potential).		A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	c.617A>G	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.99|13.99	2.402367|2.402367	0.42613|0.42613	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000517766|ENST00000355354;ENST00000361309	.|.	.|.	.|.	5.81|5.81	4.66|4.66	0.58398|0.58398	.|CD47 transmembrane (1);	.|0.321301	.|0.30742	.|N	.|0.008966	T|T	0.44008|0.44008	0.1273|0.1273	M|M	0.70595|0.70595	2.14|2.14	0.30934|0.30934	N|N	0.726619|0.726619	.|B;B;B;B	.|0.31153	.|0.041;0.041;0.134;0.31	.|B;B;B;B	.|0.24848	.|0.019;0.019;0.056;0.056	T|T	0.54153|0.54153	-0.8336|-0.8336	5|9	.|0.62326	.|D	.|0.03	.|.	8.6132|8.6132	0.33815|0.33815	0.0:0.0866:0.0:0.9134|0.0:0.0866:0.0:0.9134	.|.	.|206;206;206;206	.|Q08722-2;Q08722-3;E9PB22;Q08722	.|.;.;.;CD47_HUMAN	V|S	3|206	.|.	.|ENSP00000347512:N206S	M|N	-|-	1|2	0|0	CD47|CD47	109261063|109261063	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.989000|0.989000	0.77384|0.77384	1.417000|1.417000	0.34770|0.34770	1.033000|1.033000	0.39918|0.39918	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.284	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1		NM_001777		21	165	0	0	0	0.014323	0	21	165		
SIDT1	54847	broad.mit.edu	37	3	113321989	113321989	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:113321989C>T	ENST00000264852.4	+	12	1981	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	SIDT1_ENST00000393830.3_Missense_Mutation_p.R419W|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	419					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.R419W(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAACATCATCCGGACCAAGGT	0.507																																						uc003eak.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1255-1257)CGG>TGG		SID1 transmembrane family, member 1 precursor							94.0	88.0	90.0					3																	113321989		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113321989C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1255C>T	3.37:g.113321989C>T	ENSP00000264852:p.Arg419Trp					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R419W|SIDT1_uc011big.1_Missense_Mutation_p.R172W|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'Flank	p.R419W	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			12	1906	+			419			Cytoplasmic (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1255C>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013691	0.93404	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.25579	1.79;1.79	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000010	T	0.57961	0.2089	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.61168	-0.7117	10	0.72032	D	0.01	-16.6897	20.047	0.97613	0.0:1.0:0.0:0.0	.	419;419	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	419	ENSP00000264852:R419W;ENSP00000377416:R419W	ENSP00000264852:R419W	R	+	1	2	SIDT1	114804679	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.650000	0.67944	2.802000	0.96397	0.563000	0.77884	CGG		0.507	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1		NM_017699		9	62	0	0	0	0.008291	0	9	62		
KIAA2018	205717	broad.mit.edu	37	3	113393710	113393710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:113393710C>T	ENST00000478658.1	-	1	33	c.16G>A	c.(16-18)Gag>Aag	p.E6K	KIAA2018_ENST00000491165.1_Missense_Mutation_p.E6K|KIAA2018_ENST00000316407.4_Missense_Mutation_p.E6K			Q68DE3	K2018_HUMAN	KIAA2018	6						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E6K(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTCTCATTCTCTGTCATTTCT	0.383																																						uc003eam.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(16-18)GAG>AAG		hypothetical protein LOC205717							198.0	180.0	186.0					3																	113393710		1880	4112	5992	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113393710C>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.16G>A	3.37:g.113393710C>T	ENSP00000420721:p.Glu6Lys						p.E6K	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			3	427	-			6					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.16G>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430090	0.25726	.	.	ENSG00000176542	ENST00000491165;ENST00000316407;ENST00000478658	D;T;T	0.90620	-2.7;2.38;2.38	4.91	4.02	0.46733	.	.	.	.	.	T	0.80788	0.4690	N	0.08118	0	0.27961	N	0.936781	P	0.35155	0.487	B	0.32805	0.153	T	0.75269	-0.3377	9	0.72032	D	0.01	-8.9794	11.9113	0.52741	0.1749:0.8251:0.0:0.0	.	6	Q68DE3	K2018_HUMAN	K	6	ENSP00000420752:E6K;ENSP00000320794:E6K;ENSP00000420721:E6K	ENSP00000320794:E6K	E	-	1	0	KIAA2018	114876400	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	4.834000	0.62774	1.287000	0.44583	-0.318000	0.08688	GAG		0.383	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1		NM_001009899		26	192	0	0	0	0.00632	0	26	192		
POLQ	10721	broad.mit.edu	37	3	121207358	121207358	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121207358C>T	ENST00000264233.5	-	16	4548	c.4420G>A	c.(4420-4422)Gaa>Aaa	p.E1474K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1474					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E1609K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGAAGACATTCTCCTTCTACA	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4420-4422)GAA>AAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							81.0	81.0	81.0					3																	121207358		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207358C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4420G>A	3.37:g.121207358C>T	ENSP00000264233:p.Glu1474Lys					POLQ_uc003eed.2_Missense_Mutation_p.E646K	p.E1474K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4549	-			1474					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4420G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910257	0.33721	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51574	0.7	6.11	5.22	0.72569	.	0.451006	0.24904	N	0.034675	T	0.39708	0.1088	L	0.34521	1.04	0.34751	D	0.731727	P;P	0.43094	0.799;0.763	B;B	0.39840	0.214;0.311	T	0.55211	-0.8176	10	0.46703	T	0.11	.	14.8677	0.70430	0.0:0.7279:0.2721:0.0	.	1474;646	O75417;O75417-2	DPOLQ_HUMAN;.	K	1097;1474;1610	ENSP00000264233:E1474K	ENSP00000264233:E1474K	E	-	1	0	POLQ	122690048	0.752000	0.28338	0.269000	0.24586	0.198000	0.23893	1.450000	0.35134	1.548000	0.49413	0.655000	0.94253	GAA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		33	171	0	0	0	0.009535	0	33	171		
GOLGB1	2804	broad.mit.edu	37	3	121414092	121414092	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121414092C>G	ENST00000340645.5	-	13	5388	c.5263G>C	c.(5263-5265)Gag>Cag	p.E1755Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E1760Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1755					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1755Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTGAACCTCTTCACTTAGA	0.383																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(5263-5265)GAG>CAG		golgi autoantigen, golgin subfamily b,							171.0	165.0	167.0					3																	121414092		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414092C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5263G>C	3.37:g.121414092C>G	ENSP00000341848:p.Glu1755Gln					GOLGB1_uc010hrc.2_Missense_Mutation_p.E1760Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E1721Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E1641Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E1719Q	p.E1755Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5389	-			1755			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5263G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488436	0.12641	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16897	2.31;2.31	5.8	4.01	0.46588	.	0.123149	0.36932	N	0.002333	T	0.17280	0.0415	L	0.58669	1.825	0.39429	D	0.967051	B;B;B;B	0.32302	0.361;0.361;0.361;0.363	B;B;B;B	0.31751	0.104;0.104;0.104;0.135	T	0.04053	-1.0981	10	0.33141	T	0.24	.	9.77	0.40585	0.0:0.7817:0.1411:0.0771	.	1680;1760;1760;1755	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Q	1755;1760	ENSP00000341848:E1755Q;ENSP00000377275:E1760Q	ENSP00000341848:E1755Q	E	-	1	0	GOLGB1	122896782	0.998000	0.40836	1.000000	0.80357	0.929000	0.56500	2.429000	0.44758	0.786000	0.33708	0.563000	0.77884	GAG		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		88	329	0	0	0	0.01441	0	88	329		
GOLGB1	2804	broad.mit.edu	37	3	121414425	121414425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121414425G>A	ENST00000340645.5	-	13	5055	c.4930C>T	c.(4930-4932)Caa>Taa	p.Q1644*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q1649*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1644					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1644*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TACAGTTCTTGTTTCTCTTGC	0.408																																						uc003eei.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(4930-4932)CAA>TAA		golgi autoantigen, golgin subfamily b,							208.0	206.0	207.0					3																	121414425		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414425G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4930C>T	3.37:g.121414425G>A	ENSP00000341848:p.Gln1644*					GOLGB1_uc010hrc.2_Nonsense_Mutation_p.Q1649*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.Q1610*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.Q1530*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.Q1608*	p.Q1644*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5056	-			1644			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.4930C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	41	9.128966	0.99075	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	5.37	5.37	0.77165	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.5953	0.84794	0.0:0.0:1.0:0.0	.	.	.	.	X	1644;1649;1608	.	ENSP00000341848:Q1644X	Q	-	1	0	GOLGB1	122897115	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.617000	0.83032	2.499000	0.84300	0.462000	0.41574	CAA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		137	227	0	0	0	0.01441	0	137	227		
GOLGB1	2804	broad.mit.edu	37	3	121416388	121416388	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416388C>T	ENST00000340645.5	-	13	3092	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	GOLGB1_ENST00000393667.3_Silent_p.E994E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	989					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E989E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTTCTCTGCTCATTTTCTT	0.388																																						uc003eei.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(2965-2967)GAG>GAA		golgi autoantigen, golgin subfamily b,							70.0	72.0	72.0					3																	121416388		2203	4299	6502	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416388C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2967G>A	3.37:g.121416388C>T						GOLGB1_uc010hrc.2_Silent_p.E994E|GOLGB1_uc003eej.3_Silent_p.E955E|GOLGB1_uc011bjm.1_Silent_p.E875E|GOLGB1_uc010hrd.1_Silent_p.E953E	p.E989E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3093	-			989			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.2967G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069607	0.07228	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.35	-1.27	0.09347	.	.	.	.	.	T	0.40247	0.1109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	1.8962	0.03257	0.128:0.295:0.1377:0.4392	.	.	.	.	N	860	.	.	S	-	2	0	GOLGB1	122899078	0.916000	0.31088	0.996000	0.52242	0.992000	0.81027	-0.094000	0.11094	-0.121000	0.11787	0.655000	0.94253	AGC		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		61	190	0	0	0	0.01441	0	61	190		
GOLGB1	2804	broad.mit.edu	37	3	121416969	121416969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121416969C>T	ENST00000340645.5	-	13	2511	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E801K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	796					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E796K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCTGTTCAGTGAGCAGG	0.418																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(2386-2388)GAA>AAA		golgi autoantigen, golgin subfamily b,							169.0	164.0	166.0					3																	121416969		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416969C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2386G>A	3.37:g.121416969C>T	ENSP00000341848:p.Glu796Lys					GOLGB1_uc010hrc.2_Missense_Mutation_p.E801K|GOLGB1_uc003eej.3_Missense_Mutation_p.E762K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E682K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E760K	p.E796K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2512	-			796			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2386G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629202	0.67015	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.54866	1.28;1.29;0.55	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000007	T	0.70298	0.3208	M	0.71581	2.175	0.54753	D	0.999987	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.994;0.993;0.994;0.991;0.999	T	0.66048	-0.6020	10	0.27082	T	0.32	.	16.2637	0.82563	0.0:1.0:0.0:0.0	.	721;760;801;801;796	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	796;801;760;608	ENSP00000341848:E796K;ENSP00000377275:E801K;ENSP00000418231:E760K	ENSP00000341848:E796K	E	-	1	0	GOLGB1	122899659	1.000000	0.71417	0.996000	0.52242	0.809000	0.45718	5.180000	0.65048	2.704000	0.92352	0.655000	0.94253	GAA		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		94	226	0	0	0	0.01441	0	94	226		
GOLGB1	2804	broad.mit.edu	37	3	121417118	121417118	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:121417118C>G	ENST00000340645.5	-	13	2362	c.2237G>C	c.(2236-2238)aGa>aCa	p.R746T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R751T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	746					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R746T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGCTGGTCTCTTTCTTCAGA	0.423																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(2236-2238)AGA>ACA		golgi autoantigen, golgin subfamily b,							134.0	127.0	129.0					3																	121417118		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417118C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2237G>C	3.37:g.121417118C>G	ENSP00000341848:p.Arg746Thr					GOLGB1_uc010hrc.2_Missense_Mutation_p.R751T|GOLGB1_uc003eej.3_Missense_Mutation_p.R712T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R632T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R710T	p.R746T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2363	-			746			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2237G>C	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.55|13.55	2.269493|2.269493	0.40095|0.40095	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.24723	.|2.43;2.43;1.84	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	.|0.084758	.|0.51477	.|D	.|0.000086	T|T	0.42698|0.42698	0.1214|0.1214	M|M	0.67953|0.67953	2.075|2.075	0.26074|0.26074	N|N	0.981187|0.981187	.|D;P;D;D;D	.|0.89917	.|0.996;0.454;1.0;0.996;0.991	.|D;B;D;D;P	.|0.83275	.|0.981;0.131;0.996;0.99;0.805	T|T	0.30736|0.30736	-0.9968|-0.9968	5|10	.|0.16420	.|T	.|0.52	.|.	8.5812|8.5812	0.33630|0.33630	0.0:0.8281:0.0:0.1719|0.0:0.8281:0.0:0.1719	.|.	.|671;710;751;751;746	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	Q|T	617|746;751;710;558	.|ENSP00000341848:R746T;ENSP00000377275:R751T;ENSP00000418231:R710T	.|ENSP00000341848:R746T	E|R	-|-	1|2	0|0	GOLGB1|GOLGB1	122899808|122899808	0.913000|0.913000	0.31002|0.31002	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	0.281000|0.281000	0.18810|0.18810	1.417000|1.417000	0.47077|0.47077	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		63	175	0	0	0	0.01441	0	63	175		
KPNA1	3836	broad.mit.edu	37	3	122168479	122168479	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:122168479C>G	ENST00000344337.6	-	9	1035	c.859G>C	c.(859-861)Gat>Cat	p.D287H	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	287	Binding to RAG1.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.D287H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGAATTTTATCATTGGGTCCA	0.458																																					Melanoma(12;340 801 11196 19797)	uc003efd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(859-861)GAT>CAT		karyopherin alpha 1							85.0	79.0	81.0					3																	122168479		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122168479C>G	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.859G>C	3.37:g.122168479C>G	ENSP00000343701:p.Asp287His					KPNA1_uc003efb.1_Missense_Mutation_p.D86H|KPNA1_uc003efc.1_Missense_Mutation_p.D86H|KPNA1_uc011bjr.1_Missense_Mutation_p.D86H|KPNA1_uc010hrh.2_Missense_Mutation_p.D86H|KPNA1_uc003efe.2_Missense_Mutation_p.D287H	p.D287H	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	9	895	-			287			Binding to RAG1.|ARM 5.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.859G>C	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811531	0.90707	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.34072	1.38;1.38	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.046607	0.85682	D	0.000000	T	0.64724	0.2624	M	0.84585	2.705	0.80722	D	1	D	0.61080	0.989	D	0.69654	0.965	T	0.70702	-0.4799	10	0.87932	D	0	-19.7872	17.703	0.88301	0.0:1.0:0.0:0.0	.	287	P52294	IMA1_HUMAN	H	287	ENSP00000343701:D287H;ENSP00000419890:D287H	ENSP00000343701:D287H	D	-	1	0	KPNA1	123651169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.644000	0.89710	0.563000	0.77884	GAT		0.458	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1		NM_002264		18	102	0	0	0	0.006122	0	18	102		
KALRN	8997	broad.mit.edu	37	3	124165699	124165699	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:124165699G>A	ENST00000240874.3	+	21	3670	c.3513G>A	c.(3511-3513)ctG>ctA	p.L1171L	KALRN_ENST00000360013.3_Silent_p.L1171L|KALRN_ENST00000460856.1_Silent_p.L1162L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1171					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1171L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACTGCTGAAAGAATATG	0.502																																						uc003ehg.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(3511-3513)CTG>CTA		kalirin, RhoGEF kinase isoform 1							108.0	112.0	111.0					3																	124165699		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124165699G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3513G>A	3.37:g.124165699G>A						KALRN_uc010hrv.1_Silent_p.L1162L|KALRN_uc003ehf.1_Silent_p.L1171L|KALRN_uc011bjy.1_Silent_p.L1162L|KALRN_uc003ehh.1_Silent_p.L517L	p.L1171L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			21	3640	+			1171			Spectrin 5.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.3513G>A	CCDS3027.1																																																																																				0.502	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		71	137	0	0	0	0.01441	0	71	137		
MCM2	4171	broad.mit.edu	37	3	127327705	127327705	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:127327705G>A	ENST00000265056.7	+	8	1511	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	423					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.D423N(1)		ovary(3)|skin(2)|stomach(1)	6						CAACAACTATGATGGCTCCCT	0.567																																						uc003ejp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1267-1269)GAT>AAT		minichromosome maintenance complex component 2							191.0	177.0	182.0					3																	127327705		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327705G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1267G>A	3.37:g.127327705G>A	ENSP00000265056:p.Asp423Asn					MCM2_uc011bkm.1_Missense_Mutation_p.D293N|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.D307N	p.D423N	NM_004526	NP_004517	P49736	MCM2_HUMAN			8	1324	+			423					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1267G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.401208|5.401208	0.96030|0.96030	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.04502|.	3.61|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);|.	0.045054|.	0.85682|.	D|.	0.000000|.	D|D	0.83454|0.83454	0.5258|0.5258	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	D;D;D|.	0.78314|.	0.991;0.979;0.979|.	D|D	0.85637|0.85637	0.1274|0.1274	10|5	0.72032|.	D|.	0.01|.	-33.1889|-33.1889	18.8651|18.8651	0.92289|0.92289	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	404;293;423|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	N|I	423;327;404|285	ENSP00000265056:D423N|.	ENSP00000265056:D423N|.	D|M	+|+	1|3	0|0	MCM2|MCM2	128810395|128810395	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	9.470000|9.470000	0.97683|0.97683	2.445000|2.445000	0.82738|0.82738	0.591000|0.591000	0.81541|0.81541	GAT|ATG		0.567	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1				114	145	0	0	0	0.01441	0	114	145		
PLXND1	23129	broad.mit.edu	37	3	129288723	129288723	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:129288723G>A	ENST00000324093.4	-	20	4006	c.3828C>T	c.(3826-3828)atC>atT	p.I1276I	PLXND1_ENST00000393239.1_Silent_p.I1276I	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1276					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.I1276I(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCAGATGACGATGGACACGA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(3826-3828)ATC>ATT		plexin D1 precursor							88.0	75.0	79.0					3																	129288723		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129288723G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3828C>T	3.37:g.129288723G>A						PLXND1_uc011blb.1_5'Flank	p.I1276I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			20	3928	-			1276			Helical; (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3828C>T	CCDS33854.1																																																																																				0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		7	48	0	0	0	0.00308	0	7	48		
DNAJC13	23317	broad.mit.edu	37	3	132185190	132185190	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:132185190G>A	ENST00000260818.6	+	19	2264	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	672					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.E672E(1)|p.E55E(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCGTACCTGAGAAGGATGCTG	0.393																																						uc003eor.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|breast(1)	2						c.(2014-2016)GAG>GAA		DnaJ (Hsp40) homolog, subfamily C, member 13							108.0	105.0	106.0					3																	132185190		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132185190G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2016G>A	3.37:g.132185190G>A						DNAJC13_uc010htq.1_Silent_p.E672E	p.E672E	NM_015268	NP_056083	O75165	DJC13_HUMAN			19	2081	+			672					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.2016G>A	CCDS33857.1																																																																																				0.393	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		14	121	0	0	0	0.00245	0	14	121		
EPHB1	2047	broad.mit.edu	37	3	134967280	134967280	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:134967280G>A	ENST00000398015.3	+	14	2989	c.2619G>A	c.(2617-2619)gaG>gaA	p.E873E	EPHB1_ENST00000493838.1_Silent_p.E434E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	873	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.E873E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGTTTGCGGAGATTGTCAACA	0.572																																						uc003eqt.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2617-2619)GAG>GAA		ephrin receptor EphB1 precursor							33.0	39.0	37.0					3																	134967280		2197	4300	6497	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967280G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2619G>A	3.37:g.134967280G>A						EPHB1_uc003equ.2_Silent_p.E434E	p.E873E	NM_004441	NP_004432	P54762	EPHB1_HUMAN			14	2839	+			873			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2619G>A	CCDS46921.1																																																																																				0.572	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441		17	35	0	0	0	0.00499	0	17	35		
MSL2	55167	broad.mit.edu	37	3	135913931	135913931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:135913931G>A	ENST00000309993.2	-	1	757	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	9	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L9F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAAATGTAGAGAGCAGTAGCA	0.527																																						uc003eqx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(25-27)CTC>TTC		ring finger protein 184 isoform 1							174.0	186.0	182.0					3																	135913931		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135913931G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.25C>T	3.37:g.135913931G>A	ENSP00000311827:p.Leu9Phe					MSL2_uc011bmb.1_5'Flank	p.L9F	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN			1	758	-			9					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.25C>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353981	0.82243	.	.	ENSG00000174579	ENST00000309993	.	.	.	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000024	T	0.76779	0.4035	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78902	-0.2021	9	0.72032	D	0.01	-3.2666	17.2722	0.87105	0.0:0.0:1.0:0.0	.	9	Q9HCI7	MSL2_HUMAN	F	9	.	ENSP00000311827:L9F	L	-	1	0	MSL2	137396621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.278000	0.72614	2.427000	0.82271	0.561000	0.74099	CTC		0.527	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1		NM_018133		99	199	0	0	0	0.01441	0	99	199		
ESYT3	83850	broad.mit.edu	37	3	138187010	138187010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:138187010C>T	ENST00000389567.4	+	12	1468	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	428					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L428F(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GCTTTCATTGCTTACTGACCA	0.587																																						uc003esk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1282-1284)CTT>TTT		family with sequence similarity 62 (C2 domain							70.0	74.0	73.0					3																	138187010		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138187010C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1282C>T	3.37:g.138187010C>T	ENSP00000374218:p.Leu428Phe					ESYT3_uc010hug.2_RNA	p.L428F	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			12	1508	+			428					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1282C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409999	0.25465	.	.	ENSG00000158220	ENST00000389567	T	0.40476	1.03	4.4	2.27	0.28462	C2 calcium/lipid-binding domain, CaLB (1);	1.126730	0.06494	N	0.735079	T	0.32912	0.0845	M	0.61703	1.905	0.80722	D	1	B	0.34103	0.437	B	0.27500	0.08	T	0.27571	-1.0070	10	0.10111	T	0.7	.	4.1007	0.10012	0.4859:0.3588:0.0:0.1553	.	428	A0FGR9	ESYT3_HUMAN	F	428	ENSP00000374218:L428F	ENSP00000374218:L428F	L	+	1	0	ESYT3	139669700	0.002000	0.14202	0.858000	0.33744	0.576000	0.36127	0.164000	0.16542	0.358000	0.24211	0.491000	0.48974	CTT		0.587	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1		NM_031913		18	39	0	0	0	0.010504	0	18	39		
ATR	545	broad.mit.edu	37	3	142184050	142184050	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:142184050C>G	ENST00000350721.4	-	41	7051	c.6930G>C	c.(6928-6930)aaG>aaC	p.K2310N	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.K2246N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2310					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K2310N(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGAAATCTTCTTTGGTTTCT	0.318								Other conserved DNA damage response genes																														uc003eux.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6928-6930)AAG>AAC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							69.0	65.0	66.0					3																	142184050		2202	4296	6498	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142184050C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6930G>C	3.37:g.142184050C>G	ENSP00000343741:p.Lys2310Asn					ATR_uc003euy.1_Missense_Mutation_p.K196N	p.K2310N	NM_001184	NP_001175	Q13535	ATR_HUMAN			41	7052	-			2310					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6930G>C	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696274|3.696274	0.68386|0.68386	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|D;D	.|0.89343	.|-2.5;-2.5	5.22|5.22	4.14|4.14	0.48551|0.48551	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95245|0.95245	0.8458|0.8458	H|H	0.94423|0.94423	3.535|3.535	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.66602	.|0.945	D|D	0.95895|0.95895	0.8910|0.8910	5|10	.|0.87932	.|D	.|0	-2.2188|-2.2188	12.4896|12.4896	0.55893|0.55893	0.0:0.8668:0.0:0.1332|0.0:0.8668:0.0:0.1332	.|.	.|2310	.|Q13535	.|ATR_HUMAN	Q|N	157|2310;2246	.|ENSP00000343741:K2310N;ENSP00000372581:K2246N	.|ENSP00000343741:K2310N	E|K	-|-	1|3	0|2	ATR|ATR	143666740|143666740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.179000|3.179000	0.50887|0.50887	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GAA|AAG		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184		18	109	0	0	0	0.007413	0	18	109		
C3orf58	205428	broad.mit.edu	37	3	143691397	143691397	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:143691397G>A	ENST00000315691.3	+	1	758	c.223G>A	c.(223-225)Gag>Aag	p.E75K	C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	75					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.E75K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTGGTATTCGAGGCGTGGGG	0.672																																						uc003evo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(223-225)GAG>AAG		hypothetical protein LOC205428 isoform a							30.0	33.0	32.0					3																	143691397		2190	4265	6455	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143691397G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.223G>A	3.37:g.143691397G>A	ENSP00000320081:p.Glu75Lys					C3orf58_uc011bnl.1_5'Flank	p.E75K	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN			1	758	+			75					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.223G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895504	0.72639	.	.	ENSG00000181744	ENST00000315691	T	0.30981	1.51	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	L	0.31664	0.95	0.80722	D	1	B	0.33198	0.401	B	0.20577	0.03	T	0.08411	-1.0723	10	0.40728	T	0.16	.	15.8889	0.79276	0.0:0.0:1.0:0.0	.	75	Q8NDZ4	CC058_HUMAN	K	75	ENSP00000320081:E75K	ENSP00000320081:E75K	E	+	1	0	C3orf58	145174087	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.437000	0.90302	1.981000	0.57761	0.561000	0.74099	GAG		0.672	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1		NM_173552		24	51	0	0	0	0.00632	0	24	51		
PLOD2	5352	broad.mit.edu	37	3	145804623	145804623	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:145804623C>A	ENST00000360060.3	-	10	1255	c.1078G>T	c.(1078-1080)Gta>Tta	p.V360L	PLOD2_ENST00000282903.5_Missense_Mutation_p.V360L|PLOD2_ENST00000461497.1_5'Flank|PLOD2_ENST00000494950.1_Missense_Mutation_p.V305L|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	360					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.V360L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTGGTCCTACTATTTTTATA	0.254																																						uc003evs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1078-1080)GTA>TTA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						49.0	46.0	47.0					3																	145804623		2181	4279	6460	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145804623C>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1078G>T	3.37:g.145804623C>A	ENSP00000353170:p.Val360Leu					PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.V305L|PLOD2_uc003evr.1_Missense_Mutation_p.V360L	p.V360L	NM_000935	NP_000926	O00469	PLOD2_HUMAN			10	1584	-			360					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1078G>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951441	0.73787	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.84800	-1.9;-1.9;-1.9	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	M	0.62266	1.93	0.80722	D	1	P;P;B	0.36753	0.501;0.568;0.003	B;B;B	0.35859	0.183;0.212;0.019	T	0.81976	-0.0686	10	0.25106	T	0.35	-8.3955	19.0474	0.93027	0.0:1.0:0.0:0.0	.	305;360;360	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	L	360;360;305	ENSP00000282903:V360L;ENSP00000353170:V360L;ENSP00000420094:V305L	ENSP00000282903:V360L	V	-	1	0	PLOD2	147287313	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.611000	0.82962	2.505000	0.84491	0.491000	0.48974	GTA		0.254	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1		NM_000935		7	23	1	0	0.00198382	0.001984	0.0020089	7	23		
P2RY13	53829	broad.mit.edu	37	3	151046193	151046193	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:151046193G>C	ENST00000325602.5	-	2	670	c.651C>G	c.(649-651)ttC>ttG	p.F217L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	217					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.F217L(1)|p.F196L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAACAGTCCAGAAAATAAACT	0.358																																						uc003eyv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(1)	4						c.(649-651)TTC>TTG		purinergic receptor P2Y, G-protein coupled, 13							62.0	67.0	65.0					3																	151046193		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046193G>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.651C>G	3.37:g.151046193G>C	ENSP00000320376:p.Phe217Leu					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.F217L	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	672	-			217			Helical; Name=5; (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.651C>G	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008643	0.75046	.	.	ENSG00000181631	ENST00000325602	T	0.44083	0.93	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.88450	2.955	0.52099	D	0.99994	D	0.62365	0.991	D	0.72075	0.976	T	0.76969	-0.2762	10	0.87932	D	0	-25.8048	19.7783	0.96405	0.0:0.0:1.0:0.0	.	217	Q9BPV8	P2Y13_HUMAN	L	217	ENSP00000320376:F217L	ENSP00000320376:F217L	F	-	3	2	P2RY13	152528883	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.115000	0.50391	2.673000	0.90976	0.558000	0.71614	TTC		0.358	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1		NM_023914		14	141	0	0	0	0.00245	0	14	141		
SLC33A1	9197	broad.mit.edu	37	3	155571325	155571325	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:155571325G>A	ENST00000392845.3	-	1	842	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC33A1_ENST00000359479.3_Silent_p.F154F|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	154					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.F154F(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATAGATCATGAAGAGTCCTA	0.468																																						uc003fan.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(460-462)TTC>TTT		acetyl-coenzyme A transporter							60.0	63.0	62.0					3																	155571325		2203	4300	6503	SO:0001819	synonymous_variant	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571325G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.462C>T	3.37:g.155571325G>A						SLC33A1_uc003fao.1_Silent_p.F154F	p.F154F	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	843	-			154			Helical; (Potential).		B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	c.462C>T	CCDS3173.1																																																																																				0.468	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3		NM_004733		33	83	0	0	0	0.003271	0	33	83		
IFT80	57560	broad.mit.edu	37	3	159995413	159995413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:159995413G>A	ENST00000326448.7	-	17	2314	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.R799*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.R491*|IFT80_ENST00000483465.1_Nonsense_Mutation_p.R491*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	628					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.R628*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCATATCTCGATTAGCAACT	0.343																																						uc011boy.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1882-1884)CGA>TGA		WD repeat domain 56							61.0	59.0	60.0					3																	159995413		2203	4300	6503	SO:0001587	stop_gained	57560					cilium axoneme|microtubule basal body		g.chr3:159995413G>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1882C>T	3.37:g.159995413G>A	ENSP00000312778:p.Arg628*					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Nonsense_Mutation_p.R491*|IFT80_uc003fdd.1_Nonsense_Mutation_p.R311*|IFT80_uc003fde.1_Nonsense_Mutation_p.R491*	p.R628*	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	2315	-			628					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Nonsense_Mutation	SNP	ENST00000326448.7	37	c.1882C>T	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	45	11.419285	0.99558	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	.	.	.	5.81	2.67	0.31697	.	0.000000	0.64402	U	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.9088	15.0644	0.71983	0.0:0.0:0.421:0.579	.	.	.	.	X	628;491;491	.	ENSP00000312778:R628X	R	-	1	2	IFT80	161478107	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	1.861000	0.39438	0.741000	0.32674	0.650000	0.86243	CGA		0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2		NM_020800		17	53	0	0	0	0.007413	0	17	53		
NMD3	51068	broad.mit.edu	37	3	160958933	160958933	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:160958933G>C	ENST00000460469.1	+	9	1308	c.853G>C	c.(853-855)Gat>Cat	p.D285H	NMD3_ENST00000472947.1_Missense_Mutation_p.D285H|NMD3_ENST00000351193.2_Missense_Mutation_p.D285H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	285					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.D285H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCACCTCATTGATCCAAACAC	0.363																																						uc003feb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(853-855)GAT>CAT		NMD3 homolog							117.0	106.0	109.0					3																	160958933		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160958933G>C	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.853G>C	3.37:g.160958933G>C	ENSP00000419004:p.Asp285His					NMD3_uc003fec.2_Missense_Mutation_p.D285H|NMD3_uc003fed.1_Missense_Mutation_p.D285H|NMD3_uc010hwh.2_Missense_Mutation_p.D105H	p.D285H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		10	972	+			285					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.853G>C	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039576	0.75732	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.66638	-0.15;-0.22;-0.15	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	0.985;0.997;1.0	P;P;D	0.79108	0.85;0.85;0.992	D	0.88415	0.3024	10	0.72032	D	0.01	-11.5908	17.1638	0.86810	0.0:0.0:1.0:0.0	.	285;285;285	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	H	285;285;285;165	ENSP00000307525:D285H;ENSP00000417559:D285H;ENSP00000419004:D285H	ENSP00000307525:D285H	D	+	1	0	NMD3	162441627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.168000	0.94781	2.363000	0.80096	0.454000	0.30748	GAT		0.363	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1		NM_015938		17	154	0	0	0	0.006122	0	17	154		
FNDC3B	64778	broad.mit.edu	37	3	172028660	172028660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:172028660G>C	ENST00000336824.4	+	11	1342	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E415Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E415Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.E415Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTACCTTTTAGAGTGGGATGA	0.313																																						uc003fhy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1243-1245)GAG>CAG		fibronectin type III domain containing 3B							179.0	181.0	180.0					3																	172028660		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172028660G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1243G>C	3.37:g.172028660G>C	ENSP00000338523:p.Glu415Gln					FNDC3B_uc003fhz.3_Missense_Mutation_p.E415Q|FNDC3B_uc003fia.2_Missense_Mutation_p.E346Q	p.E415Q	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	11	1415	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		415			Fibronectin type-III 2.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1243G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139997	0.77775	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57436	0.4;0.4;0.4	5.97	5.97	0.96955	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.090180	0.85682	D	0.000000	T	0.61837	0.2379	L	0.48260	1.515	0.80722	D	1	B;P	0.48016	0.05;0.904	B;P	0.55999	0.032;0.789	T	0.59075	-0.7522	10	0.48119	T	0.1	-27.4475	15.492	0.75615	0.0:0.138:0.862:0.0	.	415;415	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Q	415	ENSP00000411242:E415Q;ENSP00000338523:E415Q;ENSP00000389094:E415Q	ENSP00000338523:E415Q	E	+	1	0	FNDC3B	173511354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.515000	0.67049	2.835000	0.97688	0.591000	0.81541	GAG		0.313	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2		NM_022763		10	303	0	0	0	0.006214	0	10	303		
ABCC5	10057	broad.mit.edu	37	3	183700753	183700753	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:183700753C>G	ENST00000334444.6	-	6	874	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.E212Q	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	212	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.E212Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGGTTAGACTCTGTTGCCTGG	0.527																																						uc003fmg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(634-636)GAG>CAG		ATP-binding cassette, sub-family C, member 5							87.0	88.0	88.0					3																	183700753		2058	4203	6261	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700753C>G	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.634G>C	3.37:g.183700753C>G	ENSP00000333926:p.Glu212Gln					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.E212Q	p.E212Q	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	799	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		212			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.634G>C	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309151	0.81247	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91577	-2.52;-2.87	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.258498	0.38326	N	0.001723	D	0.92958	0.7759	L	0.56769	1.78	0.50467	D	0.999871	B;B	0.29552	0.248;0.005	P;B	0.46850	0.529;0.063	D	0.89864	0.4018	10	0.27082	T	0.32	-12.568	19.4562	0.94892	0.0:1.0:0.0:0.0	.	212;212	Q86UX3;O15440	.;MRP5_HUMAN	Q	212;148;212	ENSP00000333926:E212Q;ENSP00000265586:E212Q	ENSP00000265586:E212Q	E	-	1	0	ABCC5	185183447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.513000	0.53414	2.585000	0.87301	0.655000	0.94253	GAG		0.527	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688		22	126	0	0	0	0.00278	0	22	126		
ECE2	9718	broad.mit.edu	37	3	184002817	184002817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:184002817G>A	ENST00000402825.3	+	9	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	ECE2_ENST00000357474.5_Missense_Mutation_p.D404N|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D358N|ECE2_ENST00000359140.4_Missense_Mutation_p.D329N	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	476	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.D476N(1)|p.D404N(1)|p.D329N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGTTGAGTGACTCTGAGCC	0.552											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fni.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)|skin(2)	4						c.(1426-1428)GAC>AAC		endothelin converting enzyme 2 isoform A							111.0	106.0	107.0					3																	184002817		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184002817G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1426G>A	3.37:g.184002817G>A	ENSP00000384223:p.Asp476Asn		OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_uc011brh.1_Missense_Mutation_p.D329N|ECE2_uc003fnl.3_Missense_Mutation_p.D404N|ECE2_uc003fnm.3_Missense_Mutation_p.D358N|ECE2_uc003fnk.3_Missense_Mutation_p.D329N|ECE2_uc011bri.1_Missense_Mutation_p.D391N|ECE2_uc010hxv.2_Missense_Mutation_p.D120N	p.D476N	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1464	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		476			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1426G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993989	0.54041	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.21	4.21	0.49690	Peptidase M13 (1);	0.107623	0.64402	D	0.000010	T	0.65481	0.2695	L	0.41710	1.295	0.58432	D	0.999999	B;B;B;B;B;B;B	0.27068	0.006;0.037;0.167;0.014;0.138;0.016;0.08	B;B;B;B;B;B;B	0.27608	0.02;0.034;0.081;0.008;0.049;0.02;0.05	T	0.61831	-0.6982	10	0.20519	T	0.43	-21.7045	15.2702	0.73696	0.0:0.0:1.0:0.0	.	78;329;347;358;404;329;476	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	N	476;329;358;404;350	ENSP00000384223:D476N;ENSP00000352052:D329N;ENSP00000385846:D358N;ENSP00000350066:D404N;ENSP00000398444:D350N	ENSP00000350066:D404N	D	+	1	0	ECE2	185485511	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.786000	0.69006	2.190000	0.69967	0.643000	0.83706	GAC		0.552	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3		NM_014693		49	126	0	0	0	0.01441	0	49	126		
TNK2	10188	broad.mit.edu	37	3	195615316	195615316	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:195615316C>T	ENST00000333602.6	-	2	761	c.144G>A	c.(142-144)aaG>aaA	p.K48K	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000316664.3_Silent_p.K48K|TNK2_ENST00000428187.1_Silent_p.K80K|TNK2_ENST00000381916.2_Silent_p.K111K|TNK2_ENST00000392400.1_Silent_p.K48K	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	48	SAM-like domain.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.K48K(2)|p.K111K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCATGCCGATCTTCTCCAGGT	0.607																																						uc003fvu.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(142-144)AAG>AAA		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						135.0	118.0	124.0					3																	195615316		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195615316C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.144G>A	3.37:g.195615316C>T						TNK2_uc003fvs.1_Silent_p.K80K|TNK2_uc003fvt.1_Silent_p.K111K|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Silent_p.K62K	p.K48K	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	2	687	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	48			SAM-like domain.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.144G>A	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	8.143	0.785594	0.16189	.	.	ENSG00000061938	ENST00000438207	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.73822	0.3636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72934	-0.4141	4	.	.	.	.	17.7455	0.88419	0.0:1.0:0.0:0.0	.	.	.	.	K	47	.	.	R	-	2	0	TNK2	197099713	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	3.780000	0.55386	2.439000	0.82584	0.467000	0.42956	AGA		0.607	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781		4	65	0	0	0	0.009096	0	4	65		
GAK	2580	broad.mit.edu	37	4	861130	861130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:861130G>A	ENST00000314167.4	-	21	2596	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.S750L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	829					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S829L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTTCATCTGACACCTCACT	0.617																																						uc003gbm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(2485-2487)TCA>TTA		cyclin G associated kinase							94.0	102.0	99.0					4																	861130		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:861130G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2486C>T	4.37:g.861130G>A	ENSP00000314499:p.Ser829Leu					GAK_uc003gbn.3_Missense_Mutation_p.S750L|GAK_uc010ibk.1_Missense_Mutation_p.S723L|GAK_uc010ibi.2_Missense_Mutation_p.S10L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.S693L	p.S829L	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	2685	-			829					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2486C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866475	0.72065	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.81247	-1.02;-1.47	4.66	4.66	0.58398	.	0.136101	0.51477	D	0.000088	D	0.85720	0.5762	L	0.47190	1.495	0.47441	D	0.999423	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.99;0.99;0.997;0.999;0.979	D	0.86867	0.2033	10	0.72032	D	0.01	-24.6116	13.4035	0.60898	0.0:0.0:1.0:0.0	.	750;731;750;829;725	Q5U4P5;B4DS37;E9PGR2;O14976;Q59HA5	.;.;.;GAK_HUMAN;.	L	829;750	ENSP00000314499:S829L;ENSP00000421361:S750L	ENSP00000314499:S829L	S	-	2	0	GAK	851130	1.000000	0.71417	0.029000	0.17559	0.005000	0.04900	7.537000	0.82033	2.295000	0.77249	0.561000	0.74099	TCA		0.617	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		23	114	0	0	0	0.005443	0	23	114		
WHSC1	7468	broad.mit.edu	37	4	1918678	1918678	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:1918678C>A	ENST00000382895.3	+	6	1272	c.841C>A	c.(841-843)Ctc>Atc	p.L281I	WHSC1_ENST00000508803.1_Missense_Mutation_p.L281I|WHSC1_ENST00000514045.1_Missense_Mutation_p.L281I|WHSC1_ENST00000382892.2_Missense_Mutation_p.L281I|WHSC1_ENST00000382891.5_Missense_Mutation_p.L281I|WHSC1_ENST00000503128.1_Missense_Mutation_p.L281I|WHSC1_ENST00000398261.1_Missense_Mutation_p.L281I|WHSC1_ENST00000420906.2_Missense_Mutation_p.L281I	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	281	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.L281I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAGAAGAGCCTCGTAGCTTT	0.428			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(841-843)CTC>ATC		Wolf-Hirschhorn syndrome candidate 1 protein							78.0	82.0	80.0					4																	1918678		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918678C>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.841C>A	4.37:g.1918678C>A	ENSP00000372351:p.Leu281Ile					WHSC1_uc003geb.3_Missense_Mutation_p.L281I|WHSC1_uc003gec.3_Missense_Mutation_p.L281I|WHSC1_uc003ged.3_Missense_Mutation_p.L281I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.L281I|WHSC1_uc003gdy.1_Missense_Mutation_p.L281I|WHSC1_uc010icd.1_Missense_Mutation_p.L281I|WHSC1_uc003gea.1_Missense_Mutation_p.L281I|WHSC1_uc010ice.1_Missense_Mutation_p.L281I|WHSC1_uc003geh.1_Missense_Mutation_p.L281I	p.L281I	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1017	+		all_epithelial(65;1.34e-05)	281			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.841C>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874568	0.33069	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.25	5.25	0.73442	PWWP (3);	0.000000	0.51477	D	0.000082	T	0.68128	0.2967	N	0.12422	0.21	0.80722	D	1	D;P;D;D	0.63046	0.992;0.941;0.992;0.992	P;P;P;P	0.59487	0.858;0.543;0.858;0.799	T	0.62515	-0.6838	10	0.09338	T	0.73	.	13.9461	0.64086	0.1517:0.8483:0.0:0.0	.	281;281;281;281	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	I	281	ENSP00000423972:L281I;ENSP00000421681:L281I;ENSP00000372347:L281I;ENSP00000372348:L281I;ENSP00000399251:L281I;ENSP00000372351:L281I;ENSP00000425761:L281I;ENSP00000422878:L281I;ENSP00000381311:L281I	ENSP00000308780:L281I	L	+	1	0	WHSC1	1888476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.495000	0.60353	2.717000	0.92951	0.655000	0.94253	CTC		0.428	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		23	82	1	0	2.39556e-15	0.00278	2.50355e-15	23	82		
HAUS3	79441	broad.mit.edu	37	4	2238119	2238119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:2238119C>G	ENST00000243706.4	-	4	1643	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	HAUS3_ENST00000506763.1_Missense_Mutation_p.E472Q|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E472Q|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	472					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E472Q(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCACTTCCTCAAGGTTTCCA	0.323																																						uc003ges.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|breast(2)	4						c.(1414-1416)GAG>CAG		HAUS augmin-like complex, subunit 3							78.0	78.0	78.0					4																	2238119		2203	4300	6503	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2238119C>G	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1414G>C	4.37:g.2238119C>G	ENSP00000243706:p.Glu472Gln					POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.E472Q|HAUS3_uc003get.1_Missense_Mutation_p.E472Q	p.E472Q	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN			4	1644	-			472			Potential.		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.1414G>C	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960156	0.74016	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.47869	0.83;0.83	5.71	4.87	0.63330	.	0.139464	0.47093	U	0.000244	T	0.64940	0.2644	M	0.66939	2.045	0.40421	D	0.979848	D;P	0.89917	1.0;0.838	D;P	0.71870	0.975;0.469	T	0.67292	-0.5707	10	0.46703	T	0.11	-44.1404	13.6676	0.62405	0.0:0.9258:0.0:0.0742	.	472;472	B4DF64;Q68CZ6	.;HAUS3_HUMAN	Q	472	ENSP00000243706:E472Q;ENSP00000392903:E472Q	ENSP00000243706:E472Q	E	-	1	0	HAUS3	2207917	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.572000	0.45999	1.408000	0.46895	0.650000	0.86243	GAG		0.323	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1		NM_024511		16	121	0	0	0	0.004007	0	16	121		
CCDC96	257236	broad.mit.edu	37	4	7044095	7044095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:7044095G>A	ENST00000310085.4	-	1	633	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	191	Glu-rich.							p.P191S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CTTTTGGCCGGGCGTccttcc	0.647																																						uc003gjv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(571-573)CCG>TCG		coiled-coil domain containing 96							38.0	26.0	30.0					4																	7044095		2200	4298	6498	SO:0001583	missense	257236							g.chr4:7044095G>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.571C>T	4.37:g.7044095G>A	ENSP00000309285:p.Pro191Ser					TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	p.P191S	NM_153376	NP_699207	Q2M329	CCD96_HUMAN			1	634	-			191			Glu-rich.		Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.571C>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234449	0.22626	.	.	ENSG00000173013	ENST00000310085	T	0.47869	0.83	4.39	-1.44	0.08856	.	9.227480	0.00644	N	0.000529	T	0.28200	0.0696	N	0.08118	0	0.09310	N	0.999995	B	0.29432	0.244	B	0.29785	0.107	T	0.20306	-1.0279	10	0.09590	T	0.72	0.0373	11.0916	0.48119	0.0782:0.5433:0.3785:0.0	.	191	Q2M329	CCD96_HUMAN	S	191	ENSP00000309285:P191S	ENSP00000309285:P191S	P	-	1	0	CCDC96	7094996	0.003000	0.15002	0.000000	0.03702	0.065000	0.16274	0.931000	0.28871	-0.186000	0.10533	0.471000	0.43371	CCG		0.647	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1		NM_153376		8	33	0	0	0	0.00308	0	8	33		
CPZ	8532	broad.mit.edu	37	4	8602948	8602948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:8602948G>A	ENST00000360986.4	+	3	394	c.220G>A	c.(220-222)Gag>Aag	p.E74K	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000429646.2_5'Flank|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E63K	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	74	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E74K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGGTGGTGGAGGCCAGCTC	0.647																																						uc003glm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(220-222)GAG>AAG		carboxypeptidase Z isoform 1							67.0	56.0	60.0					4																	8602948		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8602948G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.220G>A	4.37:g.8602948G>A	ENSP00000354255:p.Glu74Lys					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.E63K|CPZ_uc003glp.2_RNA	p.E74K	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			3	346	+			74			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.220G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313081	0.81358	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.76186	-1.0;-1.0	3.59	3.59	0.41128	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.87005	0.2119	10	0.66056	D	0.02	-33.9981	15.3991	0.74823	0.0:0.0:1.0:0.0	.	63;74	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	74;63	ENSP00000354255:E74K;ENSP00000315074:E63K	ENSP00000315074:E63K	E	+	1	0	CPZ	8653848	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.695000	0.74593	1.810000	0.52873	0.561000	0.74099	GAG		0.647	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4		NM_003652		8	23	0	0	0	0.00308	0	8	23		
ARAP2	116984	broad.mit.edu	37	4	36212232	36212232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:36212232G>A	ENST00000303965.4	-	6	1756	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	423					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.Q423*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTAAACTCTGAAAGCATTCT	0.368																																						uc003gsq.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1267-1269)CAG>TAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							114.0	121.0	118.0					4																	36212232		2203	4299	6502	SO:0001587	stop_gained	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36212232G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1267C>T	4.37:g.36212232G>A	ENSP00000302895:p.Gln423*					ARAP2_uc003gsr.1_Nonsense_Mutation_p.Q423*	p.Q423*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			6	1605	-			423					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	c.1267C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	42	9.775141	0.99260	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.6	4.67	0.58626	.	0.609009	0.16714	N	0.202531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	7.9713	0.30130	0.0886:0.0:0.7399:0.1715	.	.	.	.	X	423	.	ENSP00000302895:Q423X	Q	-	1	0	ARAP2	35888627	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.697000	0.37784	2.631000	0.89168	0.585000	0.79938	CAG		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230		54	199	0	0	0	0.01441	0	54	199		
UGDH	7358	broad.mit.edu	37	4	39506886	39506886	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:39506886G>A	ENST00000316423.6	-	9	1484	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	UGDH_ENST00000506179.1_Missense_Mutation_p.S381F|UGDH_ENST00000501493.2_Missense_Mutation_p.S314F|UGDH_ENST00000507089.1_Missense_Mutation_p.S284F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	381					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S381F(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						ACCTGGATGAGAAAGATCCAC	0.358																																						uc003guk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1141-1143)TCT>TTT		UDP-glucose dehydrogenase	NADH(DB00157)						101.0	100.0	100.0					4																	39506886		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39506886G>A	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1142C>T	4.37:g.39506886G>A	ENSP00000319501:p.Ser381Phe					UGDH_uc011byp.1_Missense_Mutation_p.S284F|UGDH_uc003gul.1_Missense_Mutation_p.S314F	p.S381F	NM_003359	NP_003350	O60701	UGDH_HUMAN			9	1458	-			381					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.1142C>T	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203505	0.95033	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	6.03	6.03	0.97812	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	L	0.31926	0.97	0.80722	D	1	D;D	0.61080	0.989;0.96	P;P	0.61800	0.894;0.579	T	0.83003	-0.0176	10	0.66056	D	0.02	-1.5947	19.5548	0.95338	0.0:0.0:1.0:0.0	.	314;381	B3KUU2;O60701	.;UGDH_HUMAN	F	381;314;381;284	ENSP00000319501:S381F;ENSP00000422909:S314F;ENSP00000421757:S381F;ENSP00000426560:S284F	ENSP00000319501:S381F	S	-	2	0	UGDH	39183281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.196000	0.77805	2.854000	0.98071	0.655000	0.94253	TCT		0.358	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3		NM_003359		20	111	0	0	0	0.010504	0	20	111		
NSUN7	79730	broad.mit.edu	37	4	40763266	40763266	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:40763266G>C	ENST00000381782.2	+	4	931	c.436G>C	c.(436-438)Gat>Cat	p.D146H	NSUN7_ENST00000316607.5_Missense_Mutation_p.D146H	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	146							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.D146H(2)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGTCCTTTCTGATAATGAAGA	0.323																																						uc003gvj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(436-438)GAT>CAT		NOL1/NOP2/Sun domain family, member 7							85.0	91.0	89.0					4																	40763266		2203	4294	6497	SO:0001583	missense	79730							g.chr4:40763266G>C	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.436G>C	4.37:g.40763266G>C	ENSP00000371201:p.Asp146His					NSUN7_uc003gvh.2_Missense_Mutation_p.D146H|NSUN7_uc003gvi.3_Missense_Mutation_p.D146H	p.D146H	NM_024677	NP_078953					4	931	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.436G>C	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694055	0.30052	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.41065	1.01;1.01	5.08	3.33	0.38152	.	0.553074	0.19535	N	0.111935	T	0.31009	0.0783	L	0.40543	1.245	0.28132	N	0.930135	B;B;B	0.23058	0.047;0.079;0.027	B;B;B	0.19666	0.018;0.026;0.016	T	0.19095	-1.0316	10	0.42905	T	0.14	-11.2542	7.0665	0.25156	0.1602:0.1423:0.6975:0.0	.	146;146;146	Q8NE18;Q8NE18-2;Q8NE18-3	NSUN7_HUMAN;.;.	H	146	ENSP00000371201:D146H;ENSP00000319127:D146H	ENSP00000319127:D146H	D	+	1	0	NSUN7	40458023	0.099000	0.21834	0.946000	0.38457	0.966000	0.64601	0.395000	0.20850	0.778000	0.33520	0.655000	0.94253	GAT		0.323	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2		NM_024677		31	141	0	0	0	0.008361	0	31	141		
TMPRSS11F	389208	broad.mit.edu	37	4	68934364	68934364	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:68934364G>A	ENST00000356291.2	-	7	786	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	243	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L243L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCTGTGAGCAGCCATGTGTTA	0.527																																						uc003hdt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(727-729)CTG>TTG		transmembrane protease, serine 11F							85.0	74.0	77.0					4																	68934364		2203	4300	6503	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934364G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.727C>T	4.37:g.68934364G>A						LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.L243L	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			7	776	-			243			Peptidase S1.|Extracellular (Potential).		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.727C>T	CCDS3520.1																																																																																				0.527	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1		NM_207407		9	76	0	0	0	0.008291	0	9	76		
G3BP2	9908	broad.mit.edu	37	4	76579204	76579204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:76579204G>A	ENST00000359707.4	-	8	1573	c.788C>T	c.(787-789)tCt>tTt	p.S263F	G3BP2_ENST00000395719.3_Missense_Mutation_p.S263F|G3BP2_ENST00000357854.3_Intron|G3BP2_ENST00000502654.1_5'Flank	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	263					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.S263F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGGAATTCCAGAGGAAGAAAC	0.423																																						uc003hir.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|central_nervous_system(1)	3						c.(787-789)TCT>TTT		Ras-GTPase activating protein SH3 domain-binding							91.0	87.0	89.0					4																	76579204		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76579204G>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.788C>T	4.37:g.76579204G>A	ENSP00000352738:p.Ser263Phe					G3BP2_uc003his.2_Missense_Mutation_p.S263F|G3BP2_uc003hit.2_Intron	p.S263F	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	953	-			263					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.788C>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734054	0.69189	.	.	ENSG00000138757	ENST00000395719;ENST00000359707	T;T	0.78924	-1.22;-1.22	5.95	5.95	0.96441	.	0.048886	0.85682	D	0.000000	D	0.84817	0.5556	L	0.55990	1.75	0.80722	D	1	D	0.61697	0.99	P	0.59703	0.862	D	0.83492	0.0070	10	0.48119	T	0.1	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	263	Q9UN86	G3BP2_HUMAN	F	263	ENSP00000379069:S263F;ENSP00000352738:S263F	ENSP00000352738:S263F	S	-	2	0	G3BP2	76798228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	TCT		0.423	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2		NM_012297		10	21	0	0	0	0.008291	0	10	21		
FRAS1	80144	broad.mit.edu	37	4	79199890	79199890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:79199890G>A	ENST00000325942.6	+	10	1503	c.1063G>A	c.(1063-1065)Gga>Aga	p.G355R	FRAS1_ENST00000264899.6_Missense_Mutation_p.G355R|FRAS1_ENST00000264895.6_Missense_Mutation_p.G355R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	355	VWFC 6. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G355R(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGAAGAAACTGGAGAATTTGT	0.328																																						uc003hlb.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	large_intestine(5)	5						c.(1063-1065)GGA>AGA		Fraser syndrome 1							175.0	164.0	167.0					4																	79199890		1836	4103	5939	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79199890G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1063G>A	4.37:g.79199890G>A	ENSP00000326330:p.Gly355Arg					FRAS1_uc003hkw.2_Missense_Mutation_p.G355R|FRAS1_uc003hky.1_Missense_Mutation_p.G59R|FRAS1_uc003hkz.2_Missense_Mutation_p.G59R	p.G355R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			10	1503	+			355			VWFC 6.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1063G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.800|6.800	0.516654|0.516654	0.12944|0.12944	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000508900	T;T;T|.	0.16897|.	2.31;2.71;2.4|.	5.58|5.58	0.186|0.186	0.15105|0.15105	von Willebrand factor, type C (1);|.	0.882480|.	0.09628|.	N|.	0.776563|.	T|.	0.37376|.	0.1001|.	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.21520|.	0.018;0.057;0.0;0.0|.	B;B;B;B|.	0.14578|.	0.011;0.011;0.001;0.001|.	T|.	0.33033|.	-0.9884|.	10|.	0.42905|.	T|.	0.14|.	.|.	10.7426|10.7426	0.46162|0.46162	0.5046:0.0:0.4954:0.0|0.5046:0.0:0.4954:0.0	.|.	355;355;355;355|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.	.;FRAS1_HUMAN;.;.|.	R|X	355;355;355;95|197	ENSP00000326330:G355R;ENSP00000264895:G355R;ENSP00000264899:G355R|.	ENSP00000264895:G355R|.	G|W	+|+	1|2	0|0	FRAS1|FRAS1	79418914|79418914	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	0.188000|0.188000	0.17018|0.17018	0.057000|0.057000	0.16193|0.16193	-0.244000|-0.244000	0.11960|0.11960	GGA|TGG		0.328	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2				17	43	0	0	0	0.004007	0	17	43		
FRAS1	80144	broad.mit.edu	37	4	79238534	79238534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:79238534C>G	ENST00000325942.6	+	17	2272	c.1832C>G	c.(1831-1833)tCa>tGa	p.S611*	FRAS1_ENST00000264899.6_Nonsense_Mutation_p.S611*|FRAS1_ENST00000264895.6_Nonsense_Mutation_p.S611*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	611					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.S611*(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTCATAACTCATGTGCCAGC	0.607																																						uc003hlb.2		NaN																	3	Substitution - Nonsense(3)		urinary_tract(3)	large_intestine(5)	5						c.(1831-1833)TCA>TGA		Fraser syndrome 1							105.0	110.0	109.0					4																	79238534		2052	4208	6260	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238534C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1832C>G	4.37:g.79238534C>G	ENSP00000326330:p.Ser611*					FRAS1_uc003hkw.2_Nonsense_Mutation_p.S611*|FRAS1_uc003hky.1_Nonsense_Mutation_p.S315*|FRAS1_uc003hkz.2_Nonsense_Mutation_p.S315*|FRAS1_uc003hla.1_Nonsense_Mutation_p.S122*	p.S611*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			17	2272	+			611			FU 5.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	c.1832C>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.019527|4.019527	0.75275|0.75275	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.69557|.	0.3124|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78298|.	-0.2258|.	3|.	.|0.87932	.|D	.|0	.|.	13.3022|13.3022	0.60332|0.60332	0.1585:0.8415:0.0:0.0|0.1585:0.8415:0.0:0.0	.|.	.|.	.|.	.|.	D|X	540|611	.|.	.|ENSP00000264895:S611X	H|S	+|+	1|2	0|0	FRAS1|FRAS1	79457558|79457558	0.564000|0.564000	0.26602|0.26602	0.067000|0.067000	0.19924|0.19924	0.012000|0.012000	0.07955|0.07955	1.762000|1.762000	0.38451|0.38451	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	CAT|TCA		0.607	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2				16	83	0	0	0	0.00499	0	16	83		
PTPN13	5783	broad.mit.edu	37	4	87691109	87691109	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:87691109A>G	ENST00000411767.2	+	29	4740	c.4677A>G	c.(4675-4677)ggA>ggG	p.G1559G	PTPN13_ENST00000511467.1_Silent_p.G1564G|PTPN13_ENST00000316707.6_Silent_p.G1368G|PTPN13_ENST00000436978.1_Silent_p.G1564G|PTPN13_ENST00000427191.2_Silent_p.G1540G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1559	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.G1564G(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGTGAATGGAGCCTCTTTGA	0.408																																						uc003hpz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|breast(1)|kidney(1)	6						c.(4675-4677)GGA>GGG		protein tyrosine phosphatase, non-receptor type							154.0	150.0	151.0					4																	87691109		1920	4124	6044	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87691109A>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4677A>G	4.37:g.87691109A>G						PTPN13_uc003hpy.2_Silent_p.G1564G|PTPN13_uc003hqa.2_Silent_p.G1540G|PTPN13_uc003hqb.2_Silent_p.G1368G|PTPN13_uc003hqc.1_5'UTR	p.G1559G	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	29	5157	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1559			PDZ 3.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.4677A>G	CCDS47094.1																																																																																				0.408	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				17	116	0	0	0	0.00499	0	17	116		
DSPP	1834	broad.mit.edu	37	4	88535250	88535250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:88535250C>T	ENST00000282478.7	+	4	1469	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	DSPP_ENST00000399271.1_Missense_Mutation_p.S479L|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	479	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S479L(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GATGCTAATTCAGAAAGTGAC	0.378																																						uc003hqu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1435-1437)TCA>TTA		dentin sialophosphoprotein preproprotein							124.0	118.0	120.0					4																	88535250		2018	4182	6200	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535250C>T	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1436C>T	4.37:g.88535250C>T	ENSP00000282478:p.Ser479Leu						p.S479L	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1556	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	479			Asp/Ser-rich.		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1436C>T	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	C	9.623	1.134230	0.21123	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.93366	-3.21;-3.21	4.74	3.88	0.44766	.	1.314040	0.05828	N	0.616983	D	0.96549	0.8874	M	0.79123	2.44	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	D	0.85364	0.1109	10	0.87932	D	0	1.0E-4	10.8456	0.46741	0.0:0.8078:0.1922:0.0	.	479	Q9NZW4	DSPP_HUMAN	L	479	ENSP00000382213:S479L;ENSP00000282478:S479L	ENSP00000282478:S479L	S	+	2	0	DSPP	88754274	0.000000	0.05858	0.010000	0.14722	0.475000	0.33008	0.207000	0.17395	0.954000	0.37851	0.446000	0.29264	TCA		0.378	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3		NM_014208		23	72	0	0	0	0.00278	0	23	72		
PPP3CA	5530	broad.mit.edu	37	4	102117268	102117268	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:102117268G>T	ENST00000394854.3	-	2	747	c.64C>A	c.(64-66)Cca>Aca	p.P22T	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P22T|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P22T|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P22T|PPP3CA_ENST00000523694.2_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	22	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.P22T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGAGGAAATGGAACAGCTGAA	0.383																																						uc011cen.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(64-66)CCA>ACA		protein phosphatase 3, catalytic subunit, alpha							69.0	69.0	69.0					4																	102117268		2203	4299	6502	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102117268G>T		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.64C>A	4.37:g.102117268G>T	ENSP00000378323:p.Pro22Thr					PPP3CA_uc003hvu.2_Missense_Mutation_p.P22T|PPP3CA_uc010ilj.2_Missense_Mutation_p.P22T|PPP3CA_uc003hvt.2_Missense_Mutation_p.P9T|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Missense_Mutation_p.P22T	p.P22T	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	2	739	-			22			Catalytic.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.64C>A	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414916	0.62511	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853	T;T;T;T	0.64803	-0.12;3.38;3.38;3.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	M	0.75264	2.295	0.80722	D	1	B;D;B;B	0.76494	0.09;0.999;0.012;0.426	B;D;B;B	0.80764	0.057;0.994;0.024;0.206	T	0.78984	-0.1988	10	0.49607	T	0.09	-8.8128	19.0843	0.93196	0.0:0.0:1.0:0.0	.	22;22;22;22	Q08209;A8W6Z8;A8W6Z7;Q08209-2	PP2BA_HUMAN;.;.;.	T	22	ENSP00000422781:P22T;ENSP00000378323:P22T;ENSP00000320580:P22T;ENSP00000378322:P22T	ENSP00000320580:P22T	P	-	1	0	PPP3CA	102336291	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.451000	0.97610	2.824000	0.97209	0.655000	0.94253	CCA		0.383	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2		NM_000944		13	47	1	0	0.00010058	0.013537	0.000102559	13	47		
AIMP1	9255	broad.mit.edu	37	4	107249297	107249297	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:107249297G>A	ENST00000442366.1	+	4	340	c.288G>A	c.(286-288)gtG>gtA	p.V96V	AIMP1_ENST00000358008.3_Silent_p.V96V|AIMP1_ENST00000394701.4_Silent_p.V120V	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	96	Interaction with HSP90B1. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.V96V(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTGAAAATGTGATACAGTCTA	0.363																																						uc011cfg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(286-288)GTG>GTA		small inducible cytokine subfamily E, member 1							81.0	75.0	77.0					4																	107249297		2203	4300	6503	SO:0001819	synonymous_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107249297G>A	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.288G>A	4.37:g.107249297G>A						AIMP1_uc003hyg.2_Silent_p.V96V|AIMP1_uc003hyh.2_Silent_p.V120V	p.V96V	NM_001142415	NP_001135887	Q12904	AIMP1_HUMAN			4	340	+			96			Interaction with HSP90B1 (By similarity).		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Silent	SNP	ENST00000442366.1	37	c.288G>A	CCDS3674.1																																																																																				0.363	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1		NM_004757		22	65	0	0	0	0.012319	0	22	65		
ENPEP	2028	broad.mit.edu	37	4	111397820	111397820	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:111397820G>A	ENST00000265162.5	+	1	592	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	84					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)	p.E84K(1)		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)		CAGTGAGGATGAGAGCGGACA	0.637																																						uc003iab.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)|breast(1)	5						c.(250-252)GAG>AAG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						64.0	69.0	67.0					4																	111397820		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397820G>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.250G>A	4.37:g.111397820G>A	ENSP00000265162:p.Glu84Lys						p.E84K	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	592	+		Hepatocellular(203;0.217)	84			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.250G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558400	0.45590	.	.	ENSG00000138792	ENST00000265162	T	0.01323	5.01	5.73	4.88	0.63580	.	0.692654	0.15230	N	0.273493	T	0.02012	0.0063	L	0.56769	1.78	0.20638	N	0.999879	B	0.32302	0.363	B	0.28139	0.086	T	0.44952	-0.9294	10	0.20519	T	0.43	.	10.0197	0.42035	0.0715:0.1391:0.7894:0.0	.	84	Q07075	AMPE_HUMAN	K	84	ENSP00000265162:E84K	ENSP00000265162:E84K	E	+	1	0	ENPEP	111617269	0.470000	0.25854	0.049000	0.19019	0.071000	0.16799	1.997000	0.40786	1.389000	0.46526	0.491000	0.48974	GAG		0.637	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2				26	51	0	0	0	0.003954	0	26	51		
NDST4	64579	broad.mit.edu	37	4	115858492	115858492	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:115858492G>A	ENST00000264363.2	-	5	2067	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	463	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.F463F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATTGTGAATGAAGCCCTTTC	0.438																																						uc003ibu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(1387-1389)TTC>TTT		heparan sulfate N-deacetylase/N-sulfotransferase							175.0	164.0	168.0					4																	115858492		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858492G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1389C>T	4.37:g.115858492G>A						NDST4_uc010imw.2_RNA	p.F463F	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	2068	-		Ovarian(17;0.156)	463			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1389C>T	CCDS3706.1																																																																																				0.438	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1		NM_022569		21	72	0	0	0	0.014323	0	21	72		
TRPC3	7222	broad.mit.edu	37	4	122853440	122853440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:122853440C>T	ENST00000379645.3	-	2	1046	c.973G>A	c.(973-975)Gag>Aag	p.E325K	TRPC3_ENST00000513531.1_Missense_Mutation_p.E252K|TRPC3_ENST00000264811.5_Missense_Mutation_p.E252K	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	240					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E252K(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AACTCCTTCTCTATGTTGGCC	0.627																																						uc003ieg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(973-975)GAG>AAG		transient receptor potential cation channel,							47.0	38.0	41.0					4																	122853440		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122853440C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.973G>A	4.37:g.122853440C>T	ENSP00000368966:p.Glu325Lys					TRPC3_uc010inr.2_Missense_Mutation_p.E252K|TRPC3_uc003ief.2_Missense_Mutation_p.E252K|TRPC3_uc011cgl.1_5'UTR	p.E325K	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			2	1047	-			240			Cytoplasmic (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.973G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190572	0.94923	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.88431	-2.38;-2.38;-2.38	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.992	D	0.95686	0.8736	10	0.87932	D	0	-9.9279	19.0581	0.93074	0.0:1.0:0.0:0.0	.	252;325	E9PCJ9;Q5G1L5	.;.	K	252;325;252	ENSP00000264811:E252K;ENSP00000368966:E325K;ENSP00000426899:E252K	ENSP00000264811:E252K	E	-	1	0	TRPC3	123072890	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.662000	0.83803	2.488000	0.83962	0.655000	0.94253	GAG		0.627	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1		NM_003305		10	31	0	0	0	0.008291	0	10	31		
NAA15	80155	broad.mit.edu	37	4	140275244	140275244	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:140275244A>G	ENST00000296543.5	+	10	1402	c.1079A>G	c.(1078-1080)aAc>aGc	p.N360S	NAA15_ENST00000398947.1_Missense_Mutation_p.N360S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	360					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.N360S(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CGGTTATTTAACCCCAATGGT	0.318																																						uc003ihu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1078-1080)AAC>AGC		NMDA receptor regulated 1							139.0	125.0	130.0					4																	140275244		1798	4064	5862	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140275244A>G	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1079A>G	4.37:g.140275244A>G	ENSP00000296543:p.Asn360Ser						p.N360S	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			10	1335	+			360					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1079A>G	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	5.911	0.352228	0.11182	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.38240	1.15;1.15	5.7	5.7	0.88788	.	0.097504	0.64402	D	0.000003	T	0.11879	0.0289	N	0.00642	-1.3	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.29212	-1.0019	10	0.02654	T	1	-15.1902	15.9595	0.79918	1.0:0.0:0.0:0.0	.	360	Q9BXJ9	NAA15_HUMAN	S	360;234;360	ENSP00000296543:N360S;ENSP00000381920:N360S	ENSP00000296543:N360S	N	+	2	0	NAA15	140494694	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.883000	0.56168	2.171000	0.68590	0.477000	0.44152	AAC		0.318	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175		19	104	0	0	0	0.007413	0	19	104		
NR3C2	4306	broad.mit.edu	37	4	149073701	149073701	+	Missense_Mutation	SNP	G	G	A	rs41511344		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:149073701G>A	ENST00000358102.3	-	6	2791	c.2429C>T	c.(2428-2430)tCa>tTa	p.S810L	NR3C2_ENST00000512865.1_Missense_Mutation_p.S693L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S810L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S814L|NR3C2_ENST00000355292.3_Missense_Mutation_p.S814L|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	810	Steroid-binding.		S -> L (in EOHSEP; alters receptor specificity and leads to constitutive activation; dbSNP:rs41511344). {ECO:0000269|PubMed:10884226}.		gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S810L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GGCAAATGATGATAGACACAT	0.353																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1	GRCh37	CM001739	NR3C2	M	rs41511344	c.(2428-2430)TCA>TTA		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						128.0	124.0	125.0					4																	149073701		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149073701G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2429C>T	4.37:g.149073701G>A	ENSP00000350815:p.Ser810Leu					NR3C2_uc003ilk.3_Missense_Mutation_p.S693L|NR3C2_uc010iph.2_Intron	p.S810L	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	6	2763	-	all_hematologic(180;0.151)		810	S->M: Alters receptor specificity.		Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2429C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485746	0.84854	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.67	5.67	0.87782	.	0.135626	0.52532	D	0.000076	D	0.91492	0.7314	N	0.03154	-0.405	0.58432	D	0.999999	D;D	0.76494	0.999;0.988	D;D	0.68192	0.956;0.925	D	0.91146	0.4949	9	.	.	.	.	19.7686	0.96352	0.0:0.0:1.0:0.0	rs41511344	693;810	B0ZBF5;B0ZBF6	.;.	L	810;814;810;693;814	ENSP00000341390:S810L;ENSP00000347441:S814L;ENSP00000350815:S810L;ENSP00000423510:S693L;ENSP00000421481:S814L	.	S	-	2	0	NR3C2	149293151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.812000	0.75226	2.665000	0.90641	0.591000	0.81541	TCA		0.353	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1				15	59	0	0	0	0.003163	0	15	59		
FGA	2243	broad.mit.edu	37	4	155507934	155507934	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:155507934C>T	ENST00000302053.3	-	5	725	c.647G>A	c.(646-648)aGa>aAa	p.R216K	FGA_ENST00000403106.3_Missense_Mutation_p.R216K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	216				SR -> RS (in Ref. 10; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.R216K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGCCTATCTCTAGAGGGAAG	0.448																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(646-648)AGA>AAA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						137.0	139.0	139.0					4																	155507934		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507934C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.647G>A	4.37:g.155507934C>T	ENSP00000306361:p.Arg216Lys					FGA_uc003ioe.1_Missense_Mutation_p.R216K|FGA_uc003iof.1_Intron	p.R216K	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	705	-	all_hematologic(180;0.215)	Renal(120;0.0458)	216	SR -> RS (in Ref. 9; AA sequence).		By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.647G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	3.547	-0.092465	0.07053	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.81908	-1.55;-1.55	5.78	-1.61	0.08399	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	0.784298	0.12195	N	0.490781	T	0.59824	0.2222	N	0.16567	0.415	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.08055	0.003;0.001	T	0.48736	-0.9009	10	0.05436	T	0.98	.	4.028	0.09697	0.0895:0.2635:0.4064:0.2406	.	216;216	P02671-2;P02671	.;FIBA_HUMAN	K	216	ENSP00000306361:R216K;ENSP00000385981:R216K	ENSP00000306361:R216K	R	-	2	0	FGA	155727384	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.707000	0.05041	-0.627000	0.05589	0.655000	0.94253	AGA		0.448	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		30	119	0	0	0	0.009535	0	30	119		
HMGB2	3148	broad.mit.edu	37	4	174254236	174254236	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:174254236C>A	ENST00000296503.5	-	3	1153	c.280G>T	c.(280-282)Gct>Tct	p.A94S	HMGB2_ENST00000438704.2_Missense_Mutation_p.A94S|HMGB2_ENST00000446922.2_Missense_Mutation_p.A94S			P26583	HMGB2_HUMAN	high mobility group box 2	94					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|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)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.A94S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTTAGGAGCATTGGGGTCC	0.403																																						uc011ckc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(280-282)GCT>TCT		high-mobility group box 2							224.0	236.0	232.0					4																	174254236		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254236C>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.280G>T	4.37:g.174254236C>A	ENSP00000296503:p.Ala94Ser					HMGB2_uc003ita.3_Missense_Mutation_p.A94S|HMGB2_uc003itb.2_Missense_Mutation_p.A94S|HMGB2_uc003itc.2_Missense_Mutation_p.A94S	p.A94S	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	2	400	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	94					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.280G>T	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203355	0.58234	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.06	4.22	0.49857	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	0.000000	0.64402	D	0.000006	D	0.96253	0.8778	H	0.98487	4.245	0.58432	D	0.999999	B	0.12630	0.006	B	0.29598	0.104	D	0.95226	0.8338	10	0.87932	D	0	.	13.4481	0.61153	0.0:0.9249:0.0:0.0751	.	94	P26583	HMGB2_HUMAN	S	94	ENSP00000296503:A94S;ENSP00000393448:A94S;ENSP00000404912:A94S;ENSP00000423001:A94S	ENSP00000296503:A94S	A	-	1	0	HMGB2	174490811	1.000000	0.71417	0.934000	0.37439	0.083000	0.17756	7.416000	0.80143	1.363000	0.46019	0.563000	0.77884	GCT		0.403	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1		NM_001130688		46	250	1	0	6.34439e-16	0.01441	6.63825e-16	46	250		
PDLIM3	27295	broad.mit.edu	37	4	186429463	186429463	+	Missense_Mutation	SNP	G	G	A	rs150809809		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr4:186429463G>A	ENST00000284770.5	-	5	725	c.652C>T	c.(652-654)Cct>Tct	p.P218S	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	218					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)	p.P218S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CTCATCAAAGGTGTTTCCCCT	0.403																																						uc003ixw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(652-654)CCT>TCT		PDZ and LIM domain protein 3 isoform a		G	,SER/PRO	2,4404	4.2+/-10.8	0,2,2201	133.0	124.0	127.0		,652	3.2	0.3	4	dbSNP_134	127	0,8600		0,0,4300	no	intron,missense	PDLIM3	NM_001114107.3,NM_014476.4	,74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign	,218/365	186429463	2,13004	2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186429463G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.652C>T	4.37:g.186429463G>A	ENSP00000284770:p.Pro218Ser					PDLIM3_uc003ixx.3_Intron|PDLIM3_uc010isi.2_Intron	p.P218S	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	5	776	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	218					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.652C>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281404	0.23392	4.54E-4	0.0	ENSG00000154553	ENST00000284770	T	0.38722	1.12	5.95	3.22	0.36961	.	0.491083	0.25863	N	0.027807	T	0.29389	0.0732	L	0.42529	1.33	0.80722	D	1	B	0.21688	0.059	B	0.19391	0.025	T	0.06197	-1.0840	10	0.17369	T	0.5	-1.331	6.1968	0.20553	0.134:0.0:0.4959:0.3701	.	218	Q53GG5	PDLI3_HUMAN	S	218	ENSP00000284770:P218S	ENSP00000284770:P218S	P	-	1	0	PDLIM3	186666457	0.990000	0.36364	0.254000	0.24359	0.533000	0.34776	1.399000	0.34566	0.369000	0.24510	0.563000	0.77884	CCT		0.403	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2		NM_014476		39	151	0	0	0	0.009718	0	39	151		
DNAH5	1767	broad.mit.edu	37	5	13841027	13841027	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:13841027G>C	ENST00000265104.4	-	34	5801	c.5697C>G	c.(5695-5697)atC>atG	p.I1899M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1899	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1899M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCATCAAAGATATCCCTTT	0.383									Kartagener syndrome																													uc003jfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5695-5697)ATC>ATG		dynein, axonemal, heavy chain 5							101.0	93.0	96.0					5																	13841027		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841027G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5697C>G	5.37:g.13841027G>C	ENSP00000265104:p.Ile1899Met						p.I1899M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			34	5739	-	Lung NSC(4;0.00476)		1899			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5697C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439406	0.63067	.	.	ENSG00000039139	ENST00000265104	T	0.27256	1.68	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	M	0.91717	3.235	0.58432	D	0.999992	D	0.89917	1.0	D	0.77557	0.99	T	0.64668	-0.6353	10	0.87932	D	0	.	10.4628	0.44590	0.1479:0.0:0.8521:0.0	.	1899	Q8TE73	DYH5_HUMAN	M	1899	ENSP00000265104:I1899M	ENSP00000265104:I1899M	I	-	3	3	DNAH5	13894027	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.630000	0.54273	2.729000	0.93468	0.655000	0.94253	ATC		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		19	106	0	0	0	0.008871	0	19	106		
TRIO	7204	broad.mit.edu	37	5	14389431	14389431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:14389431G>A	ENST00000344204.4	+	25	4006	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	TRIO_ENST00000537187.1_Missense_Mutation_p.E1328K|TRIO_ENST00000509967.2_Missense_Mutation_p.E1279K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1328	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1328K(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGGCGTGGAAGAGATTCCACC	0.413																																						uc003jff.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3982-3984)GAG>AAG		triple functional domain (PTPRF interacting)							98.0	97.0	97.0					5																	14389431		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14389431G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3982G>A	5.37:g.14389431G>A	ENSP00000339299:p.Glu1328Lys					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1279K|TRIO_uc003jfh.1_Missense_Mutation_p.E977K	p.E1328K	NM_007118	NP_009049	O75962	TRIO_HUMAN			25	3988	+	Lung NSC(4;0.000742)		1328			DH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3982G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868737	0.91587	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.29142	1.58;1.58;1.58	6.03	6.03	0.97812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	N	0.16266	0.395	0.80722	D	1	D;B;D	0.69078	0.997;0.411;0.994	D;B;P	0.75484	0.986;0.177;0.859	T	0.07635	-1.0762	10	0.09338	T	0.73	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1279;1328;1328	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	K	1328;1328;1279;1015	ENSP00000339299:E1328K;ENSP00000446348:E1328K;ENSP00000445592:E1279K	ENSP00000339299:E1328K	E	+	1	0	TRIO	14442431	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAG		0.413	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		12	30	0	0	0	0.003163	0	12	30		
FBXL7	23194	broad.mit.edu	37	5	15928098	15928098	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:15928098C>T	ENST00000504595.1	+	3	708	c.227C>T	c.(226-228)tCc>tTc	p.S76F	FBXL7_ENST00000329673.7_Missense_Mutation_p.S64F|FBXL7_ENST00000510662.1_Missense_Mutation_p.S29F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	76					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S76F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCGTCCACCTCCTCGTCCTCC	0.657																																						uc003jfn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(226-228)TCC>TTC		F-box and leucine-rich repeat protein 7							54.0	66.0	62.0					5																	15928098		2072	4196	6268	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928098C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.227C>T	5.37:g.15928098C>T	ENSP00000423630:p.Ser76Phe						p.S76F	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	708	+			76					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.227C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501689	0.64298	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12255	2.7;2.82;2.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	N	0.24115	0.695	0.58432	D	0.999999	D	0.59357	0.985	P	0.50970	0.655	T	0.00896	-1.1523	10	0.62326	D	0.03	.	19.4375	0.94801	0.0:1.0:0.0:0.0	.	76	Q9UJT9	FBXL7_HUMAN	F	76;29;64	ENSP00000423630:S76F;ENSP00000425184:S29F;ENSP00000329632:S64F	ENSP00000329632:S64F	S	+	2	0	FBXL7	15981098	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.855000	0.69510	2.610000	0.88304	0.563000	0.77884	TCC		0.657	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1		NM_012304		14	35	0	0	0	0.00245	0	14	35		
MYO10	4651	broad.mit.edu	37	5	16781865	16781865	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:16781865G>C	ENST00000513610.1	-	6	1130	c.676C>G	c.(676-678)Cag>Gag	p.Q226E		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	226	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.Q226E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATGTTCAGCTGAACAAACTTC	0.423																																						uc003jft.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(676-678)CAG>GAG		myosin X							118.0	112.0	114.0					5																	16781865		1880	4094	5974	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16781865G>C	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.676C>G	5.37:g.16781865G>C	ENSP00000421280:p.Gln226Glu					MYO10_uc003jfu.2_Missense_Mutation_p.Q193E	p.Q226E	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			6	1144	-			226			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.676C>G	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777386	0.90195	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436	T;T;T	0.69040	-0.37;-0.37;-0.37	5.56	5.56	0.83823	Myosin head, motor domain (3);	.	.	.	.	T	0.72342	0.3448	N	0.25957	0.775	0.80722	D	1	P;D	0.64830	0.955;0.994	P;D	0.65684	0.783;0.937	T	0.68973	-0.5268	9	0.31617	T	0.26	.	19.8892	0.96923	0.0:0.0:1.0:0.0	.	193;226	E9PCN3;Q9HD67	.;MYO10_HUMAN	E	226;237;193	ENSP00000421280:Q226E;ENSP00000421309:Q237E;ENSP00000426783:Q193E	ENSP00000426783:Q193E	Q	-	1	0	MYO10	16834865	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	9.813000	0.99286	2.777000	0.95525	0.591000	0.81541	CAG		0.423	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334		14	95	0	0	0	0.00245	0	14	95		
MTMR12	54545	broad.mit.edu	37	5	32233926	32233926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:32233926C>A	ENST00000382142.3	-	15	1797	c.1627G>T	c.(1627-1629)Gaa>Taa	p.E543*	MTMR12_ENST00000510216.1_5'UTR|RNU6-1079P_ENST00000362861.1_RNA|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	543	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.E543*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGGCTTTTCCACATAAAGA	0.493																																						uc003jhq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1627-1629)GAA>TAA		myotubularin related protein 12							205.0	172.0	183.0					5																	32233926		2203	4300	6503	SO:0001587	stop_gained	54545					cytoplasm	phosphatase activity	g.chr5:32233926C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1627G>T	5.37:g.32233926C>A	ENSP00000371577:p.Glu543*					MTMR12_uc010iuk.2_Intron|MTMR12_uc010iul.2_Intron	p.E543*	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			15	1797	-			543			Myotubularin phosphatase.|Interaction with MTM1.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Nonsense_Mutation	SNP	ENST00000382142.3	37	c.1627G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	41	9.137439	0.99078	.	.	ENSG00000150712	ENST00000382142	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	543	.	ENSP00000371577:E543X	E	-	1	0	MTMR12	32269683	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.926000	0.75835	2.723000	0.93209	0.655000	0.94253	GAA		0.493	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061		52	126	1	0	1.60974e-12	0.01441	1.67832e-12	52	126		
ADAMTS12	81792	broad.mit.edu	37	5	33891861	33891861	+	Missense_Mutation	SNP	G	G	A	rs201411671		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:33891861G>A	ENST00000504830.1	-	1	436	c.101C>T	c.(100-102)cCg>cTg	p.P34L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P34L|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P34L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	34					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P34Q(4)|p.P34L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAGCGAACCGGGCCTGGCTG	0.527										HNSCC(64;0.19)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15469	0.001		0.0	False		,,,				2504	0.0					uc003jia.1		NaN																	6	Substitution - Missense(6)		lung(4)|urinary_tract(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(100-102)CCG>CTG		ADAM metallopeptidase with thrombospondin type 1							110.0	120.0	116.0					5																	33891861		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33891861G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.101C>T	5.37:g.33891861G>A	ENSP00000422554:p.Pro34Leu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P34L|ADAMTS12_uc003jib.1_Missense_Mutation_p.P34L	p.P34L	NM_030955	NP_112217	P58397	ATS12_HUMAN			1	264	-			34					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.101C>T	CCDS34140.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.503	0.864763	0.17250	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.58506	0.33;0.34;3.01	5.61	1.7	0.24286	.	0.483859	0.17622	N	0.167684	T	0.38348	0.1037	L	0.29908	0.895	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.30966	-0.9960	10	0.66056	D	0.02	.	2.2792	0.04110	0.1465:0.125:0.4378:0.2907	.	34;34;34	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	L	34	ENSP00000422554:P34L;ENSP00000344847:P34L;ENSP00000421638:P34L	ENSP00000344847:P34L	P	-	2	0	ADAMTS12	33927618	0.509000	0.26163	0.037000	0.18230	0.233000	0.25261	0.441000	0.21611	0.011000	0.14865	-0.225000	0.12378	CCG		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		42	133	0	0	0	0.01441	0	42	133		
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:34867123G>A	ENST00000505624.1	+	7	892	c.789G>A	c.(787-789)caG>caA	p.Q263Q	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263								p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547																																						uc003jiu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(787-789)CAG>CAA		tetratricopeptide repeat domain 23-like							43.0	46.0	45.0					5																	34867123		1980	4159	6139	SO:0001819	synonymous_variant	153657						binding	g.chr5:34867123G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.789G>A	5.37:g.34867123G>A						TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q	p.Q263Q	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			7	892	+			263			Potential.		Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	c.789G>A	CCDS54840.1																																																																																				0.547	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1		NM_144725		5	17	0	0	0	0.001168	0	5	17		
RANBP3L	202151	broad.mit.edu	37	5	36265572	36265572	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:36265572C>T	ENST00000296604.3	-	5	804	c.319G>A	c.(319-321)Gat>Aat	p.D107N	RANBP3L_ENST00000502994.1_Missense_Mutation_p.D132N|RANBP3L_ENST00000515759.1_Missense_Mutation_p.D107N	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	107					intracellular transport (GO:0046907)			p.D107N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTCTTTATATCAACACTACTT	0.308																																						uc003jkh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(319-321)GAT>AAT		RAN binding protein 3-like isoform 2							84.0	87.0	86.0					5																	36265572		2203	4300	6503	SO:0001583	missense	202151				intracellular transport			g.chr5:36265572C>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.319G>A	5.37:g.36265572C>T	ENSP00000296604:p.Asp107Asn					RANBP3L_uc011cow.1_Missense_Mutation_p.D132N	p.D107N	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		5	812	-	all_lung(31;4.52e-05)		107					B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.319G>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173231	0.57584	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.60797	1.61;1.75;1.56;0.16	5.0	3.18	0.36537	.	0.396048	0.25186	N	0.032483	T	0.68421	0.2999	M	0.77313	2.365	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.965	T	0.57236	-0.7846	10	0.19147	T	0.46	-7.1817	6.1655	0.20388	0.185:0.7202:0.0:0.0948	.	132;107	E9PGP9;Q86VV4	.;RNB3L_HUMAN	N	107;132;107;107	ENSP00000296604:D107N;ENSP00000421853:D132N;ENSP00000421149:D107N;ENSP00000427147:D107N	ENSP00000296604:D107N	D	-	1	0	RANBP3L	36301329	0.002000	0.14202	0.006000	0.13384	0.142000	0.21351	0.210000	0.17455	0.773000	0.33404	0.563000	0.77884	GAT		0.308	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2		NM_145000		32	101	0	0	0	0.013726	0	32	101		
TTC33	23548	broad.mit.edu	37	5	40730373	40730373	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:40730373C>T	ENST00000337702.4	-	3	446	c.294G>A	c.(292-294)atG>atA	p.M98I	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	98								p.M98I(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGTGATTTCATCTCGTATA	0.368																																						uc003jma.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(292-294)ATG>ATA		tetratricopeptide repeat domain 33							147.0	137.0	140.0					5																	40730373		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40730373C>T	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.294G>A	5.37:g.40730373C>T	ENSP00000338533:p.Met98Ile					TTC33_uc011cpm.1_Intron|TTC33_uc010ivg.2_Intron	p.M98I	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN			3	442	-			98			TPR 2.		B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.294G>A	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549517	0.65311	.	.	ENSG00000113638	ENST00000337702	T	0.59224	0.28	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.75447	2.3	0.80722	D	1	B	0.18610	0.029	B	0.23018	0.043	T	0.57353	-0.7826	10	0.38643	T	0.18	-18.1129	18.3196	0.90232	0.0:1.0:0.0:0.0	.	98	Q6PID6	TTC33_HUMAN	I	98	ENSP00000338533:M98I	ENSP00000338533:M98I	M	-	3	0	TTC33	40766130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.484000	0.73621	2.764000	0.94973	0.655000	0.94253	ATG		0.368	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1		NM_012382		46	119	0	0	0	0.01441	0	46	119		
HCN1	348980	broad.mit.edu	37	5	45462008	45462008	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:45462008G>A	ENST00000303230.4	-	3	1008	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	317					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.F317F(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGTACTAAGAACTGAAGAC	0.423																																						uc003jok.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(949-951)TTC>TTT		hyperpolarization activated cyclic							82.0	81.0	81.0					5																	45462008		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462008G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.951C>T	5.37:g.45462008G>A							p.F317F	NM_021072	NP_066550	O60741	HCN1_HUMAN			3	976	-			317			Helical; Name=Segment S5; (Potential).			Silent	SNP	ENST00000303230.4	37	c.951C>T	CCDS3952.1																																																																																				0.423	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		16	64	0	0	0	0.004007	0	16	64		
AP3B1	8546	broad.mit.edu	37	5	77406125	77406125	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:77406125G>C	ENST00000255194.6	-	20	2478	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*	AP3B1_ENST00000519295.1_Nonsense_Mutation_p.S719*	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	768	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.S768*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTCGTCATTTGAAGAATCTGA	0.328									Hermansky-Pudlak syndrome																													uc003kfj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2302-2304)TCA>TGA		adaptor-related protein complex 3, beta 1							57.0	55.0	56.0					5																	77406125		2200	4296	6496	SO:0001587	stop_gained	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77406125G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2303C>G	5.37:g.77406125G>C	ENSP00000255194:p.Ser768*						p.S768*	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	20	2428	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	768			Glu/Ser-rich.		E5RJ68|O00580|Q7Z393|Q9HD66	Nonsense_Mutation	SNP	ENST00000255194.6	37	c.2303C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	41	9.076148	0.99057	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	.	.	.	5.48	5.48	0.80851	.	0.367233	0.32190	N	0.006445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.7786	17.1478	0.86770	0.0:0.0:1.0:0.0	.	.	.	.	X	768;719;768	.	ENSP00000255194:S768X	S	-	2	0	AP3B1	77441881	0.996000	0.38824	0.793000	0.32043	0.897000	0.52465	4.001000	0.57046	2.568000	0.86640	0.655000	0.94253	TCA		0.328	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2				8	38	0	0	0	0.00308	0	8	38		
MTX3	345778	broad.mit.edu	37	5	79284998	79284998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:79284998C>T	ENST00000512528.1	-	4	318	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	MTX3_ENST00000512560.1_Missense_Mutation_p.E39K|MTX3_ENST00000509852.1_Missense_Mutation_p.E100K			Q5HYI7	MTX3_HUMAN	metaxin 3	100					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.E100K(1)|p.E39K(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGCTTCTCTTCGAGGAGAGCA	0.338																																						uc010jag.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(298-300)GAA>AAA		metaxin 3							56.0	54.0	55.0					5																	79284998		1832	4093	5925	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79284998C>T	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.298G>A	5.37:g.79284998C>T	ENSP00000424798:p.Glu100Lys					MTX3_uc010jah.2_Missense_Mutation_p.E100K|MTX3_uc003kge.3_Missense_Mutation_p.E39K|MTX3_uc003kgf.1_5'Flank	p.E100K	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	4	325	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	100					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.298G>A		.	.	.	.	.	.	.	.	.	.	C	29.6	5.020037	0.93462	.	.	ENSG00000177034	ENST00000512560;ENST00000328496;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.54479	0.65;0.59;0.57	5.52	5.52	0.82312	Glutathione S-transferase, C-terminal-like (1);	0.044138	0.85682	D	0.000000	T	0.68311	0.2987	L	0.57536	1.79	0.80722	D	1	D;P	0.71674	0.998;0.903	P;B	0.62435	0.902;0.44	T	0.65952	-0.6043	10	0.44086	T	0.13	-20.0624	19.8024	0.96513	0.0:1.0:0.0:0.0	.	100;100	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	K	39;100;100;100;100	ENSP00000423600:E39K;ENSP00000423302:E100K;ENSP00000424798:E100K	ENSP00000331672:E100K	E	-	1	0	MTX3	79320754	1.000000	0.71417	0.963000	0.40424	0.919000	0.55068	4.499000	0.60380	2.752000	0.94435	0.655000	0.94253	GAA		0.338	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1		XM_293971		8	14	0	0	0	0.006214	0	8	14		
GPR98	84059	broad.mit.edu	37	5	90052949	90052949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:90052949C>T	ENST00000405460.2	+	57	12007	c.11911C>T	c.(11911-11913)Cat>Tat	p.H3971Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3971	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.H3971Y(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAAACCATCTCATGGGATTCT	0.423																																						uc003kju.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11911-11913)CAT>TAT		G protein-coupled receptor 98 precursor							83.0	84.0	84.0					5																	90052949		1872	4107	5979	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90052949C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11911C>T	5.37:g.90052949C>T	ENSP00000384582:p.His3971Tyr					GPR98_uc003kjt.2_Missense_Mutation_p.H1677Y|GPR98_uc003kjv.2_Missense_Mutation_p.H1571Y	p.H3971Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	57	12007	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3971			Calx-beta 26.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11911C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	1.945	-0.442671	0.04604	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26810	1.71	5.08	3.28	0.37604	Na-Ca exchanger/integrin-beta4 (2);	0.267070	0.42172	N	0.000755	T	0.15696	0.0378	L	0.41492	1.28	0.80722	D	1	B;B	0.28470	0.119;0.213	B;B	0.29440	0.102;0.038	T	0.07986	-1.0744	10	0.02654	T	1	.	7.0351	0.24989	0.0:0.6017:0.0:0.3983	.	3971;3971	E7ETI5;Q8WXG9	.;GPR98_HUMAN	Y	3971	ENSP00000384582:H3971Y	ENSP00000296619:H3971Y	H	+	1	0	GPR98	90088705	0.006000	0.16342	0.715000	0.30552	0.900000	0.52787	0.796000	0.26986	0.633000	0.30452	0.467000	0.42956	CAT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		22	49	0	0	0	0.012319	0	22	49		
FAM81B	153643	broad.mit.edu	37	5	94728542	94728542	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:94728542G>A	ENST00000283357.5	+	2	215	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	57						nucleus (GO:0005634)		p.E57K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GACTGCAGAGGAACAGCCAGT	0.403																																						uc003kla.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(169-171)GAA>AAA		hypothetical protein LOC153643							46.0	46.0	46.0					5																	94728542		1858	4095	5953	SO:0001583	missense	153643							g.chr5:94728542G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.169G>A	5.37:g.94728542G>A	ENSP00000283357:p.Glu57Lys					FAM81B_uc010jbe.1_5'UTR	p.E57K	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	2	215	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	57						Missense_Mutation	SNP	ENST00000283357.5	37	c.169G>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930698	0.18131	.	.	ENSG00000153347	ENST00000283357	T	0.19250	2.16	5.69	0.554	0.17241	.	0.674101	0.14248	N	0.331655	T	0.18759	0.0450	M	0.62723	1.935	0.09310	N	0.999999	B	0.11235	0.004	B	0.14578	0.011	T	0.20940	-1.0260	10	0.36615	T	0.2	-8.5299	5.5393	0.17030	0.2406:0.2704:0.489:0.0	.	57	Q96LP2	FA81B_HUMAN	K	57	ENSP00000283357:E57K	ENSP00000283357:E57K	E	+	1	0	FAM81B	94754298	0.042000	0.20092	0.048000	0.18961	0.040000	0.13550	0.304000	0.19228	0.333000	0.23563	-0.222000	0.12452	GAA		0.403	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1		NM_152548		13	21	0	0	0	0.006122	0	13	21		
GIN1	54826	broad.mit.edu	37	5	102442447	102442447	+	Silent	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:102442447T>C	ENST00000399004.2	-	3	400	c.306A>G	c.(304-306)acA>acG	p.T102T	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Silent_p.T102T	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	102					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.T102T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGGTCACAGATGTCCAATAAT	0.338																																						uc003koa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(304-306)ACA>ACG		zinc finger, H2C2 domain containing							93.0	86.0	88.0					5																	102442447		1847	4097	5944	SO:0001819	synonymous_variant	54826				DNA integration		DNA binding	g.chr5:102442447T>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.306A>G	5.37:g.102442447T>C						GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Silent_p.T102T	p.T102T	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	388	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	102					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Silent	SNP	ENST00000399004.2	37	c.306A>G	CCDS43349.1																																																																																				0.338	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3		NM_017676		17	35	0	0	0	0.00499	0	17	35		
TEX43	389320	broad.mit.edu	37	5	125968328	125968328	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:125968328C>T	ENST00000357147.3	+	2	190	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		59								p.F59F(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						ACATGATATTCAGGAATGTGA	0.373																																						uc003kub.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(175-177)TTC>TTT		hypothetical protein LOC389320							98.0	93.0	95.0					5																	125968328		2203	4300	6503	SO:0001819	synonymous_variant	389320							g.chr5:125968328C>T																												ENST00000357147.3:c.177C>T	5.37:g.125968328C>T							p.F59F	NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN			2	190	+			59						Silent	SNP	ENST00000357147.3	37	c.177C>T	CCDS4139.1																																																																																				0.373	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1				14	47	0	0	0	0.001855	0	14	47		
RAD50	10111	broad.mit.edu	37	5	131895051	131895051	+	Missense_Mutation	SNP	G	G	A	rs370769989		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:131895051G>A	ENST00000265335.6	+	2	592	c.205G>A	c.(205-207)Gat>Aat	p.D69N	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	69					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.D69Y(1)|p.D69N(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTACACGATCCCAAGGT	0.284								Homologous recombination																														uc003kxi.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(205-207)GAT>AAT	Homologous_recombination	RAD50 homolog isoform 1		G	ASN/ASP	0,4404		0,0,2202	56.0	60.0	59.0		205	5.0	1.0	5		59	1,8583	1.2+/-3.3	0,1,4291	no	missense	RAD50	NM_005732.3	23	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	69/1313	131895051	1,12987	2202	4292	6494	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131895051G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.205G>A	5.37:g.131895051G>A	ENSP00000265335:p.Asp69Asn					RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR	p.D69N	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	592	+		all_cancers(142;0.0368)|Breast(839;0.198)	69					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.205G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839515	0.91117	0.0	1.16E-4	ENSG00000113522	ENST00000265335;ENST00000453394	T;T	0.17213	2.29;2.29	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31503	-0.9941	10	0.87932	D	0	-19.8593	15.7613	0.78082	0.0:0.0:1.0:0.0	.	69	Q92878	RAD50_HUMAN	N	69	ENSP00000265335:D69N;ENSP00000400049:D69N	ENSP00000265335:D69N	D	+	1	0	RAD50	131922950	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.829000	0.92055	2.288000	0.76882	0.491000	0.48974	GAT		0.284	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		22	81	0	0	0	0.012319	0	22	81		
CATSPER3	347732	broad.mit.edu	37	5	134332199	134332199	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:134332199C>T	ENST00000282611.6	+	3	575	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	163					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.I163I(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGGGCATCCGGGTGAGTG	0.562																																						uc003lag.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(487-489)ATC>ATT		cation channel, sperm associated 3							77.0	75.0	76.0					5																	134332199		2203	4300	6503	SO:0001819	synonymous_variant	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134332199C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.489C>T	5.37:g.134332199C>T							p.I163I	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	557	+			163			Cytoplasmic (Potential).		Q86XS6	Silent	SNP	ENST00000282611.6	37	c.489C>T	CCDS4181.1																																																																																				0.562	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2		NM_178019		17	66	0	0	0	0.010504	0	17	66		
H2AFY	9555	broad.mit.edu	37	5	134705752	134705752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:134705752C>T	ENST00000511689.1	-	3	846	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	H2AFY_ENST00000312469.4_Missense_Mutation_p.V85M|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Missense_Mutation_p.V85M|H2AFY_ENST00000510038.1_Missense_Mutation_p.V85M	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	85	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)	p.V85M(2)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGGCCACAGCCAGCAGG	0.562																																						uc003lam.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(253-255)GTG>ATG		H2A histone family, member Y isoform 3							89.0	74.0	79.0					5																	134705752		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134705752C>T	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.253G>A	5.37:g.134705752C>T	ENSP00000423563:p.Val85Met					H2AFY_uc003lao.1_Missense_Mutation_p.V85M|H2AFY_uc003lan.1_Missense_Mutation_p.V85M|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.V85M|H2AFY_uc003lat.1_Missense_Mutation_p.V85M	p.V85M	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	463	-			85			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.253G>A	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663738	0.88251	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	6.06	6.06	0.98353	Histone-fold (2);Histone core (1);Histone H2A (1);	0.051738	0.85682	D	0.000000	D	0.85609	0.5736	M	0.86651	2.83	0.58432	D	0.999998	P;P;P	0.52692	0.859;0.903;0.955	P;P;P	0.58721	0.668;0.736;0.844	D	0.86669	0.1909	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	85;85;85	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	M	85	ENSP00000423563:V85M;ENSP00000302572:V85M;ENSP00000310169:V85M;ENSP00000424971:V85M	ENSP00000302572:V85M	V	-	1	0	H2AFY	134733651	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	3.712000	0.54875	2.882000	0.98803	0.655000	0.94253	GTG		0.562	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3		NM_004893		3	29	0	0	0	0.009096	0	3	29		
MYOT	9499	broad.mit.edu	37	5	137219160	137219160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:137219160G>C	ENST00000239926.4	+	7	1278	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	MYOT_ENST00000421631.2_Missense_Mutation_p.E118Q|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.E187Q	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	302	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.E302Q(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GATAGTGTCTGAGAAGGGTCT	0.433																																						uc011cye.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(904-906)GAG>CAG		myotilin isoform b							129.0	120.0	123.0					5																	137219160		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219160G>C	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.904G>C	5.37:g.137219160G>C	ENSP00000239926:p.Glu302Gln					MYOT_uc003lbv.2_Missense_Mutation_p.E302Q|MYOT_uc011cyg.1_Missense_Mutation_p.E118Q|MYOT_uc011cyh.1_Missense_Mutation_p.E187Q	p.E302Q	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	921	+			302			Necessary for interaction with ACTA1.|Ig-like C2-type 1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.904G>C	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184861	0.94885	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.74421	-0.84;-0.84;-0.84	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.84946	0.5585	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85194	0.1011	10	0.51188	T	0.08	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	302	Q9UBF9	MYOTI_HUMAN	Q	302;118;187	ENSP00000239926:E302Q;ENSP00000391185:E118Q;ENSP00000426281:E187Q	ENSP00000239926:E302Q	E	+	1	0	MYOT	137247059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.497000	0.84241	0.655000	0.94253	GAG		0.433	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2		NM_006790		25	88	0	0	0	0.00333	0	25	88		
KDM3B	51780	broad.mit.edu	37	5	137763715	137763715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:137763715G>C	ENST00000314358.5	+	20	4893	c.4693G>C	c.(4693-4695)Gat>Cat	p.D1565H	KDM3B_ENST00000394866.1_Missense_Mutation_p.D1221H|KDM3B_ENST00000542866.1_Missense_Mutation_p.D597H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1565	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.D1565H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGATGTGTCTGATGCTGTTAA	0.428																																						uc003lcy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(4693-4695)GAT>CAT		jumonji domain containing 1B							341.0	317.0	325.0					5																	137763715		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137763715G>C	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4693G>C	5.37:g.137763715G>C	ENSP00000326563:p.Asp1565His					KDM3B_uc010jew.1_Missense_Mutation_p.D1221H|KDM3B_uc011cys.1_Missense_Mutation_p.D597H	p.D1565H	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			20	4893	+			1565			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4693G>C	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179959	0.94846	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.74315	-0.83;-0.83;-0.83	5.81	5.81	0.92471	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.91074	0.7191	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92958	0.6386	10	0.87932	D	0	-28.3363	20.0838	0.97793	0.0:0.0:1.0:0.0	.	1221;1565	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	1565;1355;1221;597	ENSP00000326563:D1565H;ENSP00000378335:D1221H;ENSP00000439462:D597H	ENSP00000326563:D1565H	D	+	1	0	KDM3B	137791614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.741000	0.93983	0.655000	0.94253	GAT		0.428	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		67	277	0	0	0	0.01441	0	67	277		
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140559208G>C	ENST00000239444.2	+	1	1838	c.1593G>C	c.(1591-1593)cgG>cgC	p.R531R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	531	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)	p.R531R(3)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGAGTTCCGGGTGGGCGCTT	0.672																																						uc011dai.1		NaN																	3	Substitution - coding silent(3)		lung(2)|urinary_tract(1)	skin(4)	4						c.(1591-1593)CGG>CGC		protocadherin beta 8 precursor							86.0	143.0	123.0					5																	140559208		2203	4300	6503	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559208G>C	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1593G>C	5.37:g.140559208G>C						PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.R531R	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1779	+			531			Cadherin 5.|Extracellular (Potential).		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1593G>C	CCDS4250.1																																																																																				0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2		NM_019120		11	108	0	0	0	0.004007	0	11	108		
PCDHB16	57717	broad.mit.edu	37	5	140563854	140563854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140563854G>A	ENST00000361016.2	+	1	2875	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E574K(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCACTGAGCTGGTGCC	0.692																																						uc003liv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1720-1722)GAG>AAG		protocadherin beta 16 precursor							16.0	20.0	18.0					5																	140563854		1983	3950	5933	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563854G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1720G>A	5.37:g.140563854G>A	ENSP00000354293:p.Glu574Lys						p.E574K	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2875	+			574			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1720G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	35	5.466801	0.96257	.	.	ENSG00000196963	ENST00000361016	T	0.59083	0.29	4.12	4.12	0.48240	Cadherin (1);Cadherin-like (1);	0.000000	0.34777	N	0.003699	T	0.76219	0.3957	M	0.77616	2.38	0.45087	D	0.998101	D	0.89917	1.0	D	0.91635	0.999	T	0.81093	-0.1089	10	0.87932	D	0	.	16.0538	0.80779	0.0:0.0:1.0:0.0	.	574	Q9NRJ7	PCDBG_HUMAN	K	574	ENSP00000354293:E574K	ENSP00000354293:E574K	E	+	1	0	PCDHB16	140544038	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.081000	0.57627	1.860000	0.53959	0.479000	0.44913	GAG		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957		9	32	0	0	0	0.006214	0	9	32		
PCDHB10	56126	broad.mit.edu	37	5	140573268	140573268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140573268G>A	ENST00000239446.4	+	1	1327	c.1143G>A	c.(1141-1143)atG>atA	p.M381I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	381	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M381I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAAAGATGGTTTGCTACA	0.418																																						uc003lix.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1141-1143)ATG>ATA		protocadherin beta 10 precursor							63.0	65.0	64.0					5																	140573268		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573268G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1143G>A	5.37:g.140573268G>A	ENSP00000239446:p.Met381Ile						p.M381I	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1317	+			381			Cadherin 4.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1143G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.219668	0.00286	.	.	ENSG00000120324	ENST00000239446	T	0.39997	1.05	3.23	1.37	0.22104	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17152	0.0412	N	0.05441	-0.05	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20240	-1.0281	9	0.22109	T	0.4	.	0.6066	0.00753	0.2022:0.1592:0.3131:0.3256	.	381	Q9UN67	PCDBA_HUMAN	I	381	ENSP00000239446:M381I	ENSP00000239446:M381I	M	+	3	0	PCDHB10	140553452	0.000000	0.05858	0.079000	0.20413	0.277000	0.26821	-3.559000	0.00431	0.211000	0.20683	-0.319000	0.08680	ATG		0.418	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		18	56	0	0	0	0.00499	0	18	56		
PCDHGC5	56097	broad.mit.edu	37	5	140870243	140870243	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:140870243C>T	ENST00000252087.1	+	1	1436	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S479L(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCTGCCTCAGATCCAGAC	0.542																																						uc003lla.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)	3						c.(1435-1437)TCA>TTA		protocadherin gamma subfamily C, 5 isoform 1							116.0	125.0	122.0					5																	140870243		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870243C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1436C>T	5.37:g.140870243C>T	ENSP00000252087:p.Ser479Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S479L	p.S479L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1436	+			479			Extracellular (Potential).|Cadherin 5.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.1436C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699600	0.30142	.	.	ENSG00000240764	ENST00000252087	T	0.01804	4.63	5.56	3.7	0.42460	Cadherin (4);Cadherin-like (1);	0.147371	0.32055	N	0.006659	T	0.02267	0.0070	L	0.49455	1.56	0.35688	D	0.814604	B;B	0.15930	0.015;0.007	B;B	0.19148	0.023;0.024	T	0.33954	-0.9848	10	0.10636	T	0.68	.	12.1895	0.54261	0.0:0.8935:0.0:0.1065	.	479;479	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	L	479	ENSP00000252087:S479L	ENSP00000252087:S479L	S	+	2	0	PCDHGC5	140850427	0.004000	0.15560	0.757000	0.31301	0.994000	0.84299	2.068000	0.41471	0.843000	0.35070	0.655000	0.94253	TCA		0.542	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1		NM_018929		33	116	0	0	0	0.013726	0	33	116		
FBXO38	81545	broad.mit.edu	37	5	147807414	147807414	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:147807414G>A	ENST00000340253.5	+	15	2725	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	853					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E853K(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCAGCCTGAGAGTTGTGA	0.582																																						uc003lpf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)	6						c.(2557-2559)GAG>AAG		F-box protein 38 isoform b							40.0	46.0	44.0					5																	147807414		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147807414G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2557G>A	5.37:g.147807414G>A	ENSP00000342023:p.Glu853Lys					FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	p.E853K	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2677	+			853					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.2557G>A		.	.	.	.	.	.	.	.	.	.	G	15.68	2.904981	0.52333	.	.	ENSG00000145868	ENST00000340253	T	0.30981	1.51	5.84	5.84	0.93424	.	0.325605	0.31519	N	0.007505	T	0.15912	0.0383	N	0.14661	0.345	0.80722	D	1	B	0.28291	0.206	B	0.19148	0.024	T	0.10359	-1.0633	10	0.08599	T	0.76	-19.1016	13.0213	0.58789	0.0774:0.0:0.9226:0.0	.	853	Q6PIJ6	FBX38_HUMAN	K	853	ENSP00000342023:E853K	ENSP00000342023:E853K	E	+	1	0	FBXO38	147787607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.105000	0.41825	2.779000	0.95612	0.591000	0.81541	GAG		0.582	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2		NM_030793		6	31	0	0	0	0.001168	0	6	31		
CSF1R	1436	broad.mit.edu	37	5	149449619	149449619	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:149449619C>T	ENST00000286301.3	-	10	1618	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	443	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.E443K(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ACTTGGGCCTCATCACACCTG	0.617																																						uc003lrl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(1327-1329)GAG>AAG		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						84.0	80.0	82.0					5																	149449619		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149449619C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1327G>A	5.37:g.149449619C>T	ENSP00000286301:p.Glu443Lys					CSF1R_uc011dcd.1_Missense_Mutation_p.E295K|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.E443K	p.E443K	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		9	1522	-			443			Ig-like C2-type 5.|Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1327G>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375330	0.42105	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.42131	0.98	5.79	1.61	0.23674	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.617643	0.15047	N	0.283504	T	0.30572	0.0769	L	0.43923	1.385	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.15052	0.012;0.01	T	0.19516	-1.0303	10	0.38643	T	0.18	.	5.646	0.17590	0.0:0.4205:0.3796:0.1999	.	295;443	B4E2Y8;P07333	.;CSF1R_HUMAN	K	443;295	ENSP00000286301:E443K	ENSP00000286301:E443K	E	-	1	0	CSF1R	149429812	0.000000	0.05858	0.010000	0.14722	0.845000	0.48019	0.674000	0.25218	0.287000	0.22375	0.561000	0.74099	GAG		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2		NM_005211		8	36	0	0	0	0.004482	0	8	36		
FAM114A2	10827	broad.mit.edu	37	5	153407773	153407773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:153407773G>A	ENST00000351797.4	-	6	642	c.566C>T	c.(565-567)gCa>gTa	p.A189V	FAM114A2_ENST00000522858.1_Missense_Mutation_p.A189V|FAM114A2_ENST00000520313.1_Missense_Mutation_p.A119V|FAM114A2_ENST00000520667.1_Missense_Mutation_p.A189V	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	189							purine nucleotide binding (GO:0017076)	p.A189V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ATCCCCTTCTGCTATCACATC	0.393																																						uc003lvb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(565-567)GCA>GTA		hypothetical protein LOC10827							204.0	185.0	191.0					5																	153407773		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153407773G>A	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.566C>T	5.37:g.153407773G>A	ENSP00000341597:p.Ala189Val					FAM114A2_uc003lvc.2_Missense_Mutation_p.A189V|FAM114A2_uc003lvd.2_Missense_Mutation_p.A189V|FAM114A2_uc003lve.2_Missense_Mutation_p.A5V|FAM114A2_uc011dda.1_Missense_Mutation_p.A119V	p.A189V	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			6	1154	-			189					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.566C>T	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470090	0.96274	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000520313;ENST00000522395	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72110	-0.4389	10	0.46703	T	0.11	-15.6949	19.7433	0.96241	0.0:0.0:1.0:0.0	.	119;189	E7ESJ7;Q9NRY5	.;F1142_HUMAN	V	189;189;189;189;119;189	ENSP00000341597:A189V;ENSP00000430489:A189V;ENSP00000430384:A189V;ENSP00000429088:A119V;ENSP00000430186:A189V	ENSP00000341597:A189V	A	-	2	0	FAM114A2	153387966	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.580000	0.98207	2.733000	0.93635	0.655000	0.94253	GCA		0.393	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1		NM_018691		36	88	0	0	0	0.004878	0	36	88		
ADAM19	8728	broad.mit.edu	37	5	156932736	156932736	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:156932736A>G	ENST00000517905.1	-	11	1115	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	ADAM19_ENST00000394020.1_Silent_p.S359S|ADAM19_ENST00000257527.4_Silent_p.S357S|ADAM19_ENST00000430702.2_Silent_p.S90S			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S358S(1)|p.S357S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCAATCTGCAGAATCATGGG	0.602																																						uc003lwz.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1069-1071)TCT>TCC		ADAM metallopeptidase domain 19 preproprotein							62.0	50.0	54.0					5																	156932736		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156932736A>G	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1071T>C	5.37:g.156932736A>G						ADAM19_uc003lww.1_Silent_p.S90S|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Silent_p.S288S	p.S357S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1135	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	357			Peptidase M12B.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.1071T>C																																																																																					0.602	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1		NM_033274		6	18	0	0	0	0.001984	0	6	18		
SOX30	11063	broad.mit.edu	37	5	157078609	157078609	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:157078609G>A	ENST00000265007.6	-	1	819	c.478C>T	c.(478-480)Cct>Tct	p.P160S	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P160S	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	160					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P160S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGCTCTAGGACCGGTTTCG	0.677																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(478-480)CCT>TCT		SRY (sex determining region Y)-box 30 isoform a							20.0	24.0	23.0					5																	157078609		2191	4280	6471	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078609G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.478C>T	5.37:g.157078609G>A	ENSP00000265007:p.Pro160Ser					SOX30_uc003lxc.1_Missense_Mutation_p.P160S|SOX30_uc011dds.1_Intron	p.P160S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	820	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	160					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.478C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547411	0.27652	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.98075	-4.7;-4.28	4.62	3.72	0.42706	.	0.362258	0.20161	N	0.097954	D	0.93733	0.7997	L	0.27053	0.805	0.20196	N	0.999927	B;B	0.20671	0.047;0.028	B;B	0.18561	0.022;0.006	D	0.87931	0.2710	10	0.54805	T	0.06	.	8.4699	0.32980	0.0858:0.1544:0.7599:0.0	.	160;160	O94993-2;O94993	.;SOX30_HUMAN	S	160	ENSP00000309343:P160S;ENSP00000265007:P160S	ENSP00000265007:P160S	P	-	1	0	SOX30	157011187	0.000000	0.05858	0.010000	0.14722	0.195000	0.23768	-0.043000	0.12043	0.881000	0.35993	0.305000	0.20034	CCT		0.677	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2		NM_007017		5	27	0	0	0	0.001168	0	5	27		
CLINT1	9685	broad.mit.edu	37	5	157218935	157218935	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:157218935C>T	ENST00000411809.2	-	10	1360	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	CLINT1_ENST00000523094.1_Missense_Mutation_p.V368I|CLINT1_ENST00000523908.1_Missense_Mutation_p.V386I|CLINT1_ENST00000530742.1_Missense_Mutation_p.V368I|CLINT1_ENST00000296951.5_Missense_Mutation_p.V368I	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	386					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.V368I(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGAAGCAACAGGGCCTGAT	0.512																																					Colon(22;427 587 2170 6147 14291)	uc003lxj.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(1156-1158)GTT>ATT		epsin 4							77.0	83.0	81.0					5																	157218935		2076	4227	6303	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218935C>T	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1156G>A	5.37:g.157218935C>T	ENSP00000388340:p.Val386Ile					CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Missense_Mutation_p.V368I|CLINT1_uc011ddv.1_Missense_Mutation_p.V386I	p.V386I	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1346	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	386					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.1156G>A	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.303668|1.303668	0.23736|0.23736	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000521615|ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;0.94	6.02|6.02	3.93|3.93	0.45458|0.45458	.|.	.|0.532223	.|0.21438	.|N	.|0.074523	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.27785	.|T	.|0.31	-12.4836|-12.4836	9.4122|9.4122	0.38498|0.38498	0.0:0.7194:0.0:0.2806|0.0:0.7194:0.0:0.2806	.|.	.|386;386	.|B7Z6F8;Q14677	.|.;EPN4_HUMAN	Y|I	77|368;368;386;368;386	.|ENSP00000429345:V368I;ENSP00000433419:V368I;ENSP00000388340:V386I;ENSP00000296951:V368I;ENSP00000429824:V386I	.|ENSP00000296951:V368I	C|V	-|-	2|1	0|0	CLINT1|CLINT1	157151513|157151513	0.024000|0.024000	0.19004|0.19004	0.598000|0.598000	0.28837|0.28837	0.906000|0.906000	0.53458|0.53458	0.476000|0.476000	0.22180|0.22180	1.544000|1.544000	0.49359|0.49359	0.650000|0.650000	0.86243|0.86243	TGT|GTT		0.512	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1		NM_014666		8	46	0	0	0	0.008291	0	8	46		
GABRB2	2561	broad.mit.edu	37	5	160761889	160761889	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:160761889G>T	ENST00000393959.1	-	7	701	c.702C>A	c.(700-702)ctC>ctA	p.L234L	GABRB2_ENST00000520240.1_Silent_p.L234L|GABRB2_ENST00000517901.1_Silent_p.L171L|GABRB2_ENST00000274547.2_Silent_p.L234L|GABRB2_ENST00000353437.6_Silent_p.L234L|GABRB2_ENST00000517547.1_Silent_p.L74L			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	234					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.L234L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Fospropofol(DB06716)|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)	GCTTAAAGCTGAGGGATAACC	0.368																																						uc003lys.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(700-702)CTC>CTA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						140.0	131.0	134.0					5																	160761889		2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160761889G>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.702C>A	5.37:g.160761889G>T						GABRB2_uc011deh.1_Silent_p.L73L|GABRB2_uc003lyr.1_Silent_p.L234L|GABRB2_uc003lyt.1_Silent_p.L234L|GABRB2_uc010jiu.1_Silent_p.L171L	p.L234L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	920	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	234			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.702C>A	CCDS4355.1																																																																																				0.368	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1				16	54	1	0	1.02788e-11	0.00499	1.06788e-11	16	54		
PANK3	79646	broad.mit.edu	37	5	167993164	167993164	+	Silent	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:167993164A>G	ENST00000239231.6	-	3	805	c.489T>C	c.(487-489)ttT>ttC	p.F163F	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	163					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.F163F(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AGGCATTAGCAAAATAATAGC	0.448																																						uc003lzz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(487-489)TTT>TTC		pantothenate kinase 3							151.0	154.0	153.0					5																	167993164		2203	4300	6503	SO:0001819	synonymous_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167993164A>G	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.489T>C	5.37:g.167993164A>G							p.F163F	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	3	789	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	163					D3DQL1|Q53FJ9|Q7RTX4	Silent	SNP	ENST00000239231.6	37	c.489T>C	CCDS4368.1																																																																																				0.448	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2		NM_024594		28	155	0	0	0	0.00632	0	28	155		
CDHR2	54825	broad.mit.edu	37	5	176005373	176005373	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:176005373C>T	ENST00000510636.1	+	16	1856	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	CDHR2_ENST00000506348.1_Missense_Mutation_p.L528F|CDHR2_ENST00000261944.5_Missense_Mutation_p.L528F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L528F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCAGACCTCTTCCAAGT	0.542																																						uc003mem.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1582-1584)CTC>TTC		protocadherin LKC precursor							41.0	30.0	34.0					5																	176005373		2202	4300	6502	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176005373C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1582C>T	5.37:g.176005373C>T	ENSP00000424565:p.Leu528Phe					CDHR2_uc003men.1_Missense_Mutation_p.L528F	p.L528F	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			16	1648	+			528			Extracellular (Potential).|Cadherin 5.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1582C>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151239	0.38021	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.52295	0.67;0.67;0.67	5.22	-5.49	0.02584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37376	0.1001	L	0.35854	1.095	0.09310	N	0.999994	P	0.52316	0.952	P	0.50490	0.642	T	0.26780	-1.0093	9	0.49607	T	0.09	-7.7078	3.0947	0.06305	0.4557:0.185:0.2774:0.0818	.	528	Q9BYE9	CDHR2_HUMAN	F	528	ENSP00000424565:L528F;ENSP00000261944:L528F;ENSP00000421078:L528F	ENSP00000261944:L528F	L	+	1	0	CDHR2	175937979	0.002000	0.14202	0.003000	0.11579	0.151000	0.21798	-0.769000	0.04710	-1.240000	0.02529	0.542000	0.68232	CTC		0.542	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1		NM_017675		4	8	0	0	0	0.000602	0	4	8		
CAGE1	285782	broad.mit.edu	37	6	7373335	7373335	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7373335C>G	ENST00000512086.1	-	5	1919	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q	CAGE1_ENST00000338150.4_Missense_Mutation_p.E573Q|CAGE1_ENST00000379918.4_Missense_Mutation_p.E573Q|CAGE1_ENST00000502583.1_Missense_Mutation_p.E573Q|CAGE1_ENST00000296742.7_Missense_Mutation_p.E437Q|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	573								p.E573Q(2)|p.E437Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AAGACTTCCTCTAATTGATCC	0.348																																						uc003mxi.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(1309-1311)GAG>CAG		cancer antigen 1							122.0	106.0	111.0					6																	7373335		1853	4085	5938	SO:0001583	missense	285782							g.chr6:7373335C>G	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1717G>C	6.37:g.7373335C>G	ENSP00000427583:p.Glu573Gln					CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.E328Q|CAGE1_uc003mxk.1_Missense_Mutation_p.E328Q	p.E437Q	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			4	2030	-	Ovarian(93;0.0418)		573					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1309G>C		.	.	.	.	.	.	.	.	.	.	C	11.86	1.763620	0.31228	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431	T;T;T;T;T	0.44881	0.91;0.93;0.93;0.93;0.91	5.25	3.47	0.39725	.	0.527164	0.18843	N	0.129605	T	0.27027	0.0662	L	0.39898	1.24	0.09310	N	1	D;P;P	0.53462	0.96;0.739;0.739	P;B;B	0.52856	0.711;0.369;0.369	T	0.04522	-1.0945	10	0.62326	D	0.03	-2.2308	7.3575	0.26727	0.0:0.8077:0.0:0.1923	.	573;573;573	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	Q	573;573;573;437;573;573;573	ENSP00000369250:E573Q;ENSP00000425493:E573Q;ENSP00000296742:E437Q;ENSP00000427583:E573Q;ENSP00000338107:E573Q	ENSP00000296742:E437Q	E	-	1	0	CAGE1	7318334	0.051000	0.20477	0.036000	0.18154	0.296000	0.27459	1.248000	0.32827	1.235000	0.43724	-0.320000	0.08662	GAG		0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1		NM_175745		7	59	0	0	0	0.001984	0	7	59		
DSP	1832	broad.mit.edu	37	6	7580702	7580702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7580702G>A	ENST00000379802.3	+	23	4620	c.4279G>A	c.(4279-4281)Gaa>Aaa	p.E1427K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1427	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E1427K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGGAGGGTGGAAGAAGACAT	0.483																																						uc003mxp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4279-4281)GAA>AAA		desmoplakin isoform I							53.0	55.0	54.0					6																	7580702		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580702G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4279G>A	6.37:g.7580702G>A	ENSP00000369129:p.Glu1427Lys					DSP_uc003mxq.1_Intron	p.E1427K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4558	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1427			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4279G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611270	0.66558	.	.	ENSG00000096696	ENST00000379802	D	0.91996	-2.95	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000005	D	0.86247	0.5887	L	0.55990	1.75	0.80722	D	1	B	0.30824	0.296	B	0.19946	0.027	D	0.84232	0.0467	10	0.33940	T	0.23	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	1427	P15924	DESP_HUMAN	K	1427	ENSP00000369129:E1427K	ENSP00000369129:E1427K	E	+	1	0	DSP	7525701	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	6.859000	0.75467	2.679000	0.91253	0.655000	0.94253	GAA		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		11	58	0	0	0	0.010729	0	11	58		
DSP	1832	broad.mit.edu	37	6	7581076	7581076	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:7581076G>A	ENST00000379802.3	+	23	4994	c.4653G>A	c.(4651-4653)gtG>gtA	p.V1551V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1551	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V1551V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGAGGACTGTGAAGGACCAGG	0.522																																						uc003mxp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4651-4653)GTG>GTA		desmoplakin isoform I							99.0	103.0	101.0					6																	7581076		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581076G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4653G>A	6.37:g.7581076G>A						DSP_uc003mxq.1_Intron	p.V1551V	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4932	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1551			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.4653G>A	CCDS4501.1																																																																																				0.522	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		47	80	0	0	0	0.01441	0	47	80		
BLOC1S5	63915	broad.mit.edu	37	6	8064557	8064557	+	Missense_Mutation	SNP	C	C	T	rs375054652		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:8064557C>T	ENST00000397457.2	-	1	90	c.53G>A	c.(52-54)gGt>gAt	p.G18D	BLOC1S5_ENST00000543936.1_De_novo_Start_InFrame|EEF1E1-BLOC1S5_ENST00000397456.2_Intron|BLOC1S5-TXNDC5_ENST00000439343.2_Missense_Mutation_p.G14D	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	18					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)		p.G18D(1)									CTTGCTGCCACCGCCCGGGGC	0.667																																						uc003mxw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(-199--195)CGGTG>CGATG		thioredoxin domain containing 5 isoform 3		C	,ASP/GLY,ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	50.0	47.0	48.0		,53,53	3.5	0.9	6		48	0,8600		0,0,4300	no	utr-5,missense,missense	MUTED	NM_001199322.1,NM_001199323.1,NM_201280.2	,94,94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,possibly-damaging,possibly-damaging	,18/91,18/188	8064557	1,13005	2203	4300	6503	SO:0001583	missense	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:8064557C>T	AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.53G>A	6.37:g.8064557C>T	ENSP00000380598:p.Gly18Asp					MUTED_uc003mxy.2_Missense_Mutation_p.G18D|MUTED_uc010joc.2_Translation_Start_Site|MUTED_uc010job.2_RNA		NM_001145549	NP_001139021	Q8NBS9	TXND5_HUMAN			1	91	-	Ovarian(93;0.0398)							B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Translation_Start_Site	SNP	ENST00000397457.2	37	c.-197G>A	CCDS4506.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037764	0.54896	2.27E-4	0.0	ENSG00000188428	ENST00000397457	.	.	.	4.35	3.46	0.39613	.	.	.	.	.	T	0.41213	0.1149	L	0.57536	1.79	0.80722	D	1	P	0.47762	0.9	P	0.44990	0.466	T	0.28038	-1.0056	8	0.23891	T	0.37	.	12.1631	0.54115	0.1712:0.8288:0.0:0.0	.	18	Q8TDH9	MUTED_HUMAN	D	18	.	ENSP00000244777:G18D	G	-	2	0	MUTED	8009556	0.443000	0.25641	0.916000	0.36221	0.837000	0.47467	1.457000	0.35212	1.121000	0.41925	0.561000	0.74099	GGT		0.667	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2		NM_201280		8	19	0	0	0	0.00308	0	8	19		
SYCP2L	221711	broad.mit.edu	37	6	10913109	10913109	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:10913109T>C	ENST00000283141.6	+	14	1317	c.1021T>C	c.(1021-1023)Tgg>Cgg	p.W341R	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.W182R	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	341						nucleus (GO:0005634)		p.W341R(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAATACTCTATGGGACTCAGT	0.348																																						uc003mzo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1021-1023)TGG>CGG		synaptonemal complex protein 2-like							71.0	66.0	68.0					6																	10913109		1816	4072	5888	SO:0001583	missense	221711					nucleus		g.chr6:10913109T>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1021T>C	6.37:g.10913109T>C	ENSP00000283141:p.Trp341Arg					SYCP2L_uc011din.1_Missense_Mutation_p.W182R|SYCP2L_uc010jow.2_5'UTR	p.W341R	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		14	1317	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	341					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.1021T>C	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315688	0.23908	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.59772	0.24;1.33	5.42	5.42	0.78866	.	0.176364	0.40818	N	0.001020	T	0.69531	0.3121	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.91635	0.999;0.698	T	0.74791	-0.3545	10	0.87932	D	0	-14.0886	15.1362	0.72569	0.0:0.0:0.0:1.0	.	182;341	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	R	182;341	ENSP00000440676:W182R;ENSP00000283141:W341R	ENSP00000283141:W341R	W	+	1	0	SYCP2L	11021095	1.000000	0.71417	0.998000	0.56505	0.036000	0.12997	4.995000	0.63908	2.055000	0.61198	0.533000	0.62120	TGG		0.348	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299		29	53	0	0	0	0.00632	0	29	53		
NHLRC1	378884	broad.mit.edu	37	6	18122174	18122174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:18122174C>G	ENST00000340650.3	-	1	677	c.664G>C	c.(664-666)Gag>Cag	p.E222Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	222					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E222Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGGTGGTCTCCACACCCCAA	0.552																																						uc003ncl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(664-666)GAG>CAG		NHL repeat containing 1							50.0	53.0	52.0					6																	18122174		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122174C>G	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.664G>C	6.37:g.18122174C>G	ENSP00000345464:p.Glu222Gln						p.E222Q	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	678	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	222			NHL 3.		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.664G>C	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	7.789	0.711083	0.15239	.	.	ENSG00000187566	ENST00000340650	D	0.90133	-2.62	4.99	4.07	0.47477	Six-bladed beta-propeller, TolB-like (1);	0.491274	0.20954	N	0.082686	T	0.70692	0.3253	N	0.08118	0	0.33566	D	0.597948	B	0.06786	0.001	B	0.08055	0.003	T	0.68977	-0.5267	10	0.56958	D	0.05	-19.623	11.6563	0.51320	0.1272:0.7323:0.1405:0.0	.	222	Q6VVB1	NHLC1_HUMAN	Q	222	ENSP00000345464:E222Q	ENSP00000345464:E222Q	E	-	1	0	NHLRC1	18230153	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	3.373000	0.52394	2.301000	0.77427	0.655000	0.94253	GAG		0.552	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1				12	22	0	0	0	0.010729	0	12	22		
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:18122786C>A	ENST00000340650.3	-	1	65	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	18					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E18*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711																																						uc003ncl.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(52-54)GAG>TAG		NHL repeat containing 1							20.0	19.0	20.0					6																	18122786		2071	4080	6151	SO:0001587	stop_gained	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122786C>A	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.52G>T	6.37:g.18122786C>A	ENSP00000345464:p.Glu18*						p.E18*	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	66	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	18					Q3SYB1|Q5VUK7|Q6IMH1	Nonsense_Mutation	SNP	ENST00000340650.3	37	c.52G>T	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	36	5.650371	0.96714	.	.	ENSG00000187566	ENST00000340650	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.4335	14.8033	0.69932	0.0:0.8553:0.1446:0.0	.	.	.	.	X	18	.	ENSP00000345464:E18X	E	-	1	0	NHLRC1	18230765	1.000000	0.71417	0.929000	0.37066	0.868000	0.49771	4.583000	0.60964	2.306000	0.77630	0.655000	0.94253	GAG		0.711	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1				4	17	1	0	0.00909568	0.009096	0.00917903	4	17		
BTN3A3	10384	broad.mit.edu	37	6	26446154	26446154	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26446154C>T	ENST00000244519.2	+	5	899	c.656C>T	c.(655-657)tCc>tTc	p.S219F	BTN3A3_ENST00000339789.4_Missense_Mutation_p.S177F|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S177F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	219	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.S219F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGGGTGTATCCTGCATCATC	0.552																																						uc003nhz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(655-657)TCC>TTC		butyrophilin, subfamily 3, member A3 isoform a							153.0	147.0	149.0					6																	26446154		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26446154C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.656C>T	6.37:g.26446154C>T	ENSP00000244519:p.Ser219Phe					BTN3A3_uc003nia.2_Missense_Mutation_p.S177F|BTN3A3_uc011dkn.1_Missense_Mutation_p.S177F	p.S219F	NM_006994	NP_008925	O00478	BT3A3_HUMAN			5	836	+			219			Extracellular (Potential).|Ig-like V-type 2.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.656C>T	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	8.730	0.916442	0.17907	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232;ENST00000496719;ENST00000476281;ENST00000487272	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	3.06	2.17	0.27698	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12305	0.0299	M	0.75884	2.315	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.07443	-1.0772	9	0.46703	T	0.11	.	6.6966	0.23203	0.0:0.8545:0.0:0.1455	.	177;219	E9PCP5;O00478	.;BT3A3_HUMAN	F	219;177;177;219;125;177	ENSP00000244519:S219F;ENSP00000344968:S177F;ENSP00000355238:S177F;ENSP00000420147:S219F;ENSP00000419445:S177F	ENSP00000244519:S219F	S	+	2	0	BTN3A3	26554133	0.981000	0.34729	0.009000	0.14445	0.066000	0.16364	3.812000	0.55628	0.585000	0.29608	0.456000	0.33151	TCC		0.552	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2		NM_006994		54	81	0	0	0	0.01441	0	54	81		
BTN2A1	11120	broad.mit.edu	37	6	26459743	26459743	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26459743C>T	ENST00000312541.5	+	3	365	c.117C>T	c.(115-117)atC>atT	p.I39I	BTN2A1_ENST00000429381.1_Silent_p.I39I|BTN2A1_ENST00000469185.1_Silent_p.I39I|BTN2A1_ENST00000541522.1_5'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	39	Ig-like V-type.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.I39I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATCCCATCTTGGCCACGG	0.522																																						uc003nib.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(115-117)ATC>ATT		butyrophilin, subfamily 2, member A1 isoform 1							102.0	89.0	94.0					6																	26459743		2203	4300	6503	SO:0001819	synonymous_variant	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26459743C>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.117C>T	6.37:g.26459743C>T						BTN2A1_uc003nic.1_Silent_p.I39I|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_5'UTR	p.I39I	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			3	329	+			39			Extracellular (Potential).|Ig-like V-type.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	ENST00000312541.5	37	c.117C>T	CCDS4613.1																																																																																				0.522	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2		NM_007049		8	41	0	0	0	0.00308	0	8	41		
BTN1A1	696	broad.mit.edu	37	6	26501556	26501556	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:26501556C>T	ENST00000244513.6	+	1	108	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	14						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.L14L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GATGTCTGCTCACCCTCATTC	0.483																																						uc003nif.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(40-42)CTC>CTT		butyrophilin, subfamily 1, member A1 precursor							101.0	97.0	98.0					6																	26501556		2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501556C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.42C>T	6.37:g.26501556C>T							p.L14L	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			1	62	+			14					Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.42C>T	CCDS4614.1																																																																																				0.483	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1		NM_001732		21	67	0	0	0	0.00278	0	21	67		
HIST1H4I	8294	broad.mit.edu	37	6	27107327	27107327	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:27107327G>A	ENST00000354348.2	+	1	252	c.240G>A	c.(238-240)aaG>aaA	p.K80K	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	80					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.K80K(1)		lung(1)	1						CCAAGCGCAAGACGGTCACCG	0.597			T	BCL6	NHL																																	uc003niy.1		NaN		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(238-240)AAG>AAA		histone cluster 1, H4i							70.0	65.0	67.0					6																	27107327		2203	4300	6503	SO:0001819	synonymous_variant	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107327G>A	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.240G>A	6.37:g.27107327G>A						HIST1H2BK_uc003nix.1_Intron	p.K80K	NM_003495	NP_003486	P62805	H4_HUMAN			1	240	+			80					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000354348.2	37	c.240G>A	CCDS4620.1																																																																																				0.597	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1		NM_003495		7	44	0	0	0	0.004482	0	7	44		
HIST1H2AL	8332	broad.mit.edu	37	6	27833492	27833492	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:27833492G>A	ENST00000357320.2	+	1	459	c.360G>A	c.(358-360)aaG>aaA	p.K120K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	120						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.K120K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						TGCCCAAGAAGACCGAGAGTC	0.522																																						uc003njw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(358-360)AAG>AAA		histone cluster 1, H2al							107.0	103.0	105.0					6																	27833492		2203	4300	6503	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833492G>A	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.360G>A	6.37:g.27833492G>A							p.K120K	NM_003511	NP_003502	P0C0S8	H2A1_HUMAN			1	386	+			120					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.360G>A	CCDS4634.1																																																																																				0.522	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1		NM_003511		19	88	0	0	0	0.014323	0	19	88		
ZNF165	7718	broad.mit.edu	37	6	28056944	28056944	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:28056944C>T	ENST00000377325.1	+	4	1710	c.1154C>T	c.(1153-1155)tCa>tTa	p.S385L	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	385					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)	p.S385L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGAGAGCTCAGATCTTACT	0.453																																						uc003nkg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1153-1155)TCA>TTA		zinc finger protein 165							64.0	69.0	67.0					6																	28056944		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056944C>T	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1154C>T	6.37:g.28056944C>T	ENSP00000366542:p.Ser385Leu					ZNF165_uc003nkh.2_Missense_Mutation_p.S385L|ZNF165_uc003nki.3_Missense_Mutation_p.S385L|ZSCAN12P1_uc003nkj.3_5'Flank	p.S385L	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	2238	+			385			C2H2-type 3.			Missense_Mutation	SNP	ENST00000377325.1	37	c.1154C>T	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825947	0.50739	.	.	ENSG00000197279	ENST00000377325	T	0.17854	2.25	3.04	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17746	0.0426	M	0.80746	2.51	0.09310	N	1	D	0.53885	0.963	P	0.50082	0.63	T	0.02933	-1.1092	9	0.72032	D	0.01	.	9.4627	0.38794	0.2125:0.7875:0.0:0.0	.	385	P49910	ZN165_HUMAN	L	385	ENSP00000366542:S385L	ENSP00000366542:S385L	S	+	2	0	ZNF165	28164923	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	0.128000	0.15810	1.728000	0.51552	0.585000	0.79938	TCA		0.453	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1		NM_003447		20	64	0	0	0	0.008871	0	20	64		
TRIM10	10107	broad.mit.edu	37	6	30126201	30126201	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:30126201T>C	ENST00000449742.2	-	3	806	c.731A>G	c.(730-732)gAg>gGg	p.E244G	TRIM10_ENST00000376704.3_Missense_Mutation_p.E244G	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	244					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.E244G(1)		ovary(1)	1						TGCTGGCCTCTCATTCTTCTC	0.537																																						uc003npo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(730-732)GAG>GGG		tripartite motif-containing 10 isoform 1							178.0	200.0	192.0					6																	30126201		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30126201T>C	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.731A>G	6.37:g.30126201T>C	ENSP00000397073:p.Glu244Gly					TRIM10_uc003npn.2_Missense_Mutation_p.E244G	p.E244G	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			3	807	-			244					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.731A>G	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	T	9.668	1.145971	0.21288	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04917	3.53;3.53	5.77	2.01	0.26516	.	0.771585	0.11750	N	0.533147	T	0.01592	0.0051	L	0.33093	0.98	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.46775	-0.9167	10	0.59425	D	0.04	.	4.6883	0.12769	0.0:0.1681:0.1623:0.6697	.	244;244	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	G	244	ENSP00000397073:E244G;ENSP00000365894:E244G	ENSP00000365894:E244G	E	-	2	0	TRIM10	30234180	0.051000	0.20477	0.152000	0.22495	0.424000	0.31475	1.148000	0.31614	0.108000	0.17862	0.523000	0.50628	GAG		0.537	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1				41	219	0	0	0	0.006999	0	41	219		
MDC1	9656	broad.mit.edu	37	6	30681764	30681764	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:30681764C>T	ENST00000376406.3	-	3	980	c.333G>A	c.(331-333)gtG>gtA	p.V111V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Silent_p.V111V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	111	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.V111V(1)		breast(2)|kidney(1)|ovary(1)	4						GACGGTGACTCACCCCAGGGC	0.542								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)|kidney(1)	4						c.(331-333)GTG>GTA	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							84.0	78.0	80.0					6																	30681764		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30681764C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.333G>A	6.37:g.30681764C>T						MDC1_uc003nrf.3_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Silent_p.V111V	p.V111V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			3	773	-			111			Interaction with the MRN complex.|Interaction with CHEK2.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.333G>A	CCDS34384.1																																																																																				0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		18	75	0	0	0	0.00499	0	18	75		
CSNK2B	1460	broad.mit.edu	37	6	31635725	31635725	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:31635725C>G	ENST00000375882.2	+	3	309	c.153C>G	c.(151-153)gaC>gaG	p.D51E	GPANK1_ENST00000375896.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D51E|GPANK1_ENST00000375895.2_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|GPANK1_ENST00000375893.2_5'Flank|GPANK1_ENST00000375906.1_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.D51E|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D51E|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D70E|LY6G5B_ENST00000375864.4_5'Flank|GPANK1_ENST00000375900.4_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	51					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)	p.D51E(1)		central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						AAGCTCTAGACATGATCTTGG	0.463																																						uc003nvr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(151-153)GAC>GAG		casein kinase 2, beta polypeptide							130.0	120.0	123.0					6																	31635725		2203	4300	6503	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31635725C>G	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.153C>G	6.37:g.31635725C>G	ENSP00000365042:p.Asp51Glu					BAT4_uc003nvn.2_5'Flank|BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_Missense_Mutation_p.D51E|CSNK2B_uc003nvs.1_Missense_Mutation_p.D51E	p.D51E	NM_001320	NP_001311	P67870	CSK2B_HUMAN			3	493	+			51					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.153C>G	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143794	0.77888	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.22	4.36	0.52297	Casein kinase II, regulatory subunit, alpha-helical (1);	0.097626	0.64402	D	0.000002	T	0.33614	0.0869	L	0.48935	1.535	0.53688	D	0.999979	B;P;B	0.35982	0.234;0.531;0.234	B;B;B	0.40038	0.317;0.277;0.317	T	0.30592	-0.9973	8	0.40728	T	0.16	-12.177	11.8046	0.52147	0.0:0.9158:0.0:0.0842	.	51;51;51	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	E	70;51;51;51;51	.	ENSP00000365025:D51E	D	+	3	2	CSNK2B	31743704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.411000	0.52672	1.448000	0.47680	-0.137000	0.14449	GAC		0.463	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8		NM_001320		21	63	0	0	0	0.008871	0	21	63		
EGFL8	80864	broad.mit.edu	37	6	32134565	32134565	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:32134565C>T	ENST00000395512.1	+	4	417	c.312C>T	c.(310-312)caC>caT	p.H104H	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Silent_p.H104H			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	104	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.H104H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGAAGCGGCACCCGGGGGCGC	0.667																																						uc003oab.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(310-312)CAC>CAT		NG3 protein precursor							33.0	39.0	37.0					6																	32134565		2203	4300	6503	SO:0001819	synonymous_variant	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32134565C>T	U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.312C>T	6.37:g.32134565C>T						PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Silent_p.H104H	p.H104H	NM_030652	NP_085155	Q99944	EGFL8_HUMAN			4	370	+			104			EMI.		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Silent	SNP	ENST00000395512.1	37	c.312C>T	CCDS4743.1																																																																																				0.667	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3		NM_030652		10	31	0	0	0	0.010729	0	10	31		
RPS18	6222	broad.mit.edu	37	6	33244172	33244172	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33244172C>T	ENST00000439602.2	+	6	498	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RPS18_ENST00000474973.1_Missense_Mutation_p.R60C|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	130					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)|ribosome biogenesis (GO:0042254)|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)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R130C(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CTGCAGCCTTCGTGTCCGAGG	0.512																																						uc003odp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(388-390)CGT>TGT		ribosomal protein S18							44.0	44.0	44.0					6																	33244172		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33244172C>T	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.388C>T	6.37:g.33244172C>T	ENSP00000393241:p.Arg130Cys					RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	p.R130C	NM_022551	NP_072045	P62269	RS18_HUMAN			6	433	+			130					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.388C>T	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757502	0.89843	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.48	4.48	0.54585	Ribosomal protein S13, conserved site (1);Ribosomal protein S13-like, H2TH (1);	0.117279	0.64402	D	0.000016	D	0.82939	0.5146	H	0.97918	4.105	0.80722	D	1	P	0.45569	0.861	P	0.55391	0.775	D	0.87814	0.2633	9	0.72032	D	0.01	.	12.5943	0.56459	0.0:1.0:0.0:0.0	.	130	P62269	RS18_HUMAN	C	130;60	.	ENSP00000393241:R130C	R	+	1	0	RPS18	33352150	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.749000	0.62155	2.348000	0.79779	0.472000	0.43445	CGT		0.512	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2				4	27	0	0	0	0.009096	0	4	27		
ZBTB22	9278	broad.mit.edu	37	6	33283235	33283235	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33283235G>A	ENST00000431845.2	-	2	1610	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L487L|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L487L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAATGGCACAGAAAGATCTTA	0.627																																						uc003oeb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1459-1461)CTG>TTG		zinc finger and BTB domain containing 22							143.0	152.0	149.0					6																	33283235		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283235G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1459C>T	6.37:g.33283235G>A						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L487L	p.L487L	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1611	-			487			C2H2-type 1; atypical.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1459C>T	CCDS4775.1																																																																																				0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				38	141	0	0	0	0.004289	0	38	141		
ZBTB22	9278	broad.mit.edu	37	6	33284430	33284430	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33284430G>C	ENST00000431845.2	-	2	415	c.264C>G	c.(262-264)ctC>ctG	p.L88L	TAPBP_ENST00000426633.2_5'Flank|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L88L|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L88L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TCATGCCTTTGAGTAGGACCT	0.602																																						uc003oeb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(262-264)CTC>CTG		zinc finger and BTB domain containing 22							99.0	100.0	100.0					6																	33284430		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284430G>C	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.264C>G	6.37:g.33284430G>C						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.L88L	p.L88L	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	416	-			88			BTB.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.264C>G	CCDS4775.1																																																																																				0.602	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				24	155	0	0	0	0.004656	0	24	155		
DAXX	1616	broad.mit.edu	37	6	33287200	33287200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33287200G>A	ENST00000374542.5	-	6	2101	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.R558W|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.R633W	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	633	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R633W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCTCCTTCCGAGATTTTTTG	0.507			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2		NaN		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		urinary_tract(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(1897-1899)CGG>TGG		death-domain associated protein isoform a							122.0	133.0	129.0					6																	33287200		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287200G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1897C>T	6.37:g.33287200G>A	ENSP00000363668:p.Arg633Trp					ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.R558W|DAXX_uc011dre.1_Missense_Mutation_p.R645W|DAXX_uc003oed.2_Missense_Mutation_p.R633W	p.R633W	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			6	2101	-			633			Nuclear localization signal (Potential).|Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1897C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357642	0.41801	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	4.67	0.58626	.	0.429980	0.20253	N	0.096035	T	0.65354	0.2683	M	0.65975	2.015	0.40797	D	0.983305	D;D	0.76494	0.999;0.999	D;D	0.64687	0.928;0.928	T	0.69537	-0.5119	9	0.87932	D	0	-13.0259	12.9607	0.58455	0.0:0.0:1.0:0.0	.	645;633	B4E1C1;Q9UER7	.;DAXX_HUMAN	W	633;633;558	.	ENSP00000266000:R633W	R	-	1	2	DAXX	33395178	1.000000	0.71417	0.984000	0.44739	0.002000	0.02628	4.504000	0.60414	2.437000	0.82529	0.643000	0.83706	CGG		0.507	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1				47	225	0	0	0	0.01441	0	47	225		
CUTA	51596	broad.mit.edu	37	6	33385311	33385311	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:33385311G>A	ENST00000488034.1	-	2	325	c.204C>T	c.(202-204)gtC>gtT	p.V68V	CUTA_ENST00000488478.1_Silent_p.V68V|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000374500.5_Silent_p.V87V|CUTA_ENST00000374496.3_Silent_p.V45V|CUTA_ENST00000494751.1_Silent_p.V45V|CUTA_ENST00000440279.3_Silent_p.V45V|SYNGAP1_ENST00000418600.2_5'Flank|CUTA_ENST00000607266.1_Silent_p.V45V|CUTA_ENST00000492510.1_5'Flank	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	68					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)	p.V45V(1)	SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCTGCAGAGACCGAGCCCG	0.612																																						uc003oej.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(202-204)GTC>GTT		cutA divalent cation tolerance homolog isoform							92.0	103.0	99.0					6																	33385311		2203	4300	6503	SO:0001819	synonymous_variant	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33385311G>A	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.204C>T	6.37:g.33385311G>A						CUTA_uc003oek.1_Silent_p.V45V|CUTA_uc003oel.1_Silent_p.V45V|CUTA_uc003oem.1_Silent_p.V45V|CUTA_uc003oen.1_Silent_p.V87V|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank	p.V68V	NM_001014840	NP_001014840	O60888	CUTA_HUMAN			2	492	-			68					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Silent	SNP	ENST00000488034.1	37	c.204C>T	CCDS34433.1																																																																																				0.612	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3		NM_015921		34	86	0	0	0	0.004289	0	34	86		
SCUBE3	222663	broad.mit.edu	37	6	35213121	35213121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:35213121C>T	ENST00000274938.7	+	19	2518	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R856C	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.R840C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCACCCAAGCGCAAGATCCT	0.557																																						uc003okf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2518-2520)CGC>TGC		signal peptide, CUB domain, EGF-like 3							111.0	102.0	105.0					6																	35213121		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213121C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2518C>T	6.37:g.35213121C>T	ENSP00000274938:p.Arg840Cys					SCUBE3_uc003okg.1_Missense_Mutation_p.R839C|SCUBE3_uc003okh.1_Missense_Mutation_p.R727C	p.R840C	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			19	2524	+			840			CUB.			Missense_Mutation	SNP	ENST00000274938.7	37	c.2518C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457467	0.84317	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.35236	1.32;1.32	5.44	5.44	0.79542	CUB (5);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58629	-0.7603	10	0.87932	D	0	.	13.4743	0.61299	0.2748:0.7252:0.0:0.0	.	856;840	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	C	856;840	ENSP00000378174:R856C;ENSP00000274938:R840C	ENSP00000274938:R840C	R	+	1	0	SCUBE3	35321099	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.053000	0.49901	2.558000	0.86282	0.655000	0.94253	CGC		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753		20	83	0	0	0	0.008871	0	20	83		
LRFN2	57497	broad.mit.edu	37	6	40400146	40400146	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:40400146G>A	ENST00000338305.6	-	2	1249	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	236						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S236F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAACTAAAGGACAAGGGTGG	0.597																																						uc003oph.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(706-708)TCC>TTC		leucine rich repeat and fibronectin type III							34.0	40.0	38.0					6																	40400146		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400146G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.707C>T	6.37:g.40400146G>A	ENSP00000345985:p.Ser236Phe						p.S236F	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1172	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		236			Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.707C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022949	0.35701	.	.	ENSG00000156564	ENST00000338305	T	0.02579	4.24	5.42	4.49	0.54785	.	0.099481	0.64402	D	0.000001	T	0.06554	0.0168	M	0.64170	1.965	0.58432	D	0.999997	D	0.60575	0.988	P	0.61201	0.885	T	0.07539	-1.0767	10	0.62326	D	0.03	.	14.362	0.66779	0.0:0.1489:0.8511:0.0	.	236	Q9ULH4	LRFN2_HUMAN	F	236	ENSP00000345985:S236F	ENSP00000345985:S236F	S	-	2	0	LRFN2	40508124	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.719000	0.74718	2.558000	0.86282	0.563000	0.77884	TCC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		XM_166372		9	35	0	0	0	0.004007	0	9	35		
NCR2	9436	broad.mit.edu	37	6	41303625	41303625	+	Missense_Mutation	SNP	G	G	A	rs370949899		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:41303625G>A	ENST00000373089.5	+	1	99	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	NCR2_ENST00000373086.3_Missense_Mutation_p.R4Q|NCR2_ENST00000373083.4_Missense_Mutation_p.R4Q	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	4					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.R4Q(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATGGCCTGGCGAGCCCTACAC	0.622																																						uc003oqh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(10-12)CGA>CAA		natural cytotoxicity triggering receptor 2		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4400		0,0,2200	53.0	46.0	48.0		11,11,11	-0.6	0.0	6		48	1,8577		0,1,4288	no	missense,missense,missense	NCR2	NM_001199509.1,NM_001199510.1,NM_004828.3	43,43,43	0,1,6488	AA,AG,GG		0.0117,0.0,0.0077	benign,benign,benign	4/271,4/259,4/277	41303625	1,12977	2200	4289	6489	SO:0001583	missense	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41303625G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.11G>A	6.37:g.41303625G>A	ENSP00000362181:p.Arg4Gln					NCR2_uc003oqi.2_Missense_Mutation_p.R4Q|NCR2_uc003oqj.2_Missense_Mutation_p.R4Q	p.R4Q	NM_004828	NP_004819	O95944	NCTR2_HUMAN			1	98	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		4					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	c.11G>A	CCDS4855.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298751	0.23650	0.0	1.17E-4	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.15718	2.51;2.64;2.4	3.72	-0.547	0.11836	.	.	.	.	.	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22080	0.001;0.001;0.064	B;B;B	0.09377	0.001;0.001;0.004	T	0.43877	-0.9364	9	0.38643	T	0.18	.	3.7131	0.08427	0.3397:0.1868:0.4735:0.0	.	4;4;4	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	Q	4	ENSP00000362175:R4Q;ENSP00000362181:R4Q;ENSP00000362178:R4Q	ENSP00000362175:R4Q	R	+	2	0	NCR2	41411603	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.715000	0.01880	0.051000	0.15978	-0.137000	0.14449	CGA		0.622	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3				3	4	0	0	0	0.004672	0	3	4		
NFKBIE	4794	broad.mit.edu	37	6	44227792	44227792	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:44227792G>T	ENST00000275015.5	-	5	1424	c.1425C>A	c.(1423-1425)gaC>gaA	p.D475E	SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000393810.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	475					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)		p.D475E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTCAGTCAGGTCCTGGGGCG	0.592																																						uc003oxe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(1423-1425)GAC>GAA		nuclear factor of kappa light polypeptide gene							51.0	46.0	48.0					6																	44227792		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44227792G>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1425C>A	6.37:g.44227792G>T	ENSP00000275015:p.Asp475Glu					SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank	p.D475E	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1450	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		475					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.1425C>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388400	0.61956	.	.	ENSG00000146232	ENST00000275015;ENST00000443607	T	0.35236	1.32	4.63	3.75	0.43078	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.32530	0.975	0.58432	D	0.999994	D	0.76494	0.999	D	0.85130	0.997	T	0.09443	-1.0674	10	0.38643	T	0.18	-15.9911	12.9207	0.58230	0.0802:0.0:0.9198:0.0	.	475	O00221	IKBE_HUMAN	E	475;76	ENSP00000275015:D475E	ENSP00000275015:D475E	D	-	3	2	NFKBIE	44335770	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.976000	0.49289	2.108000	0.64289	0.561000	0.74099	GAC		0.592	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2				12	51	1	0	3.07112e-06	0.010729	3.14246e-06	12	51		
TDRD6	221400	broad.mit.edu	37	6	46658620	46658620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:46658620G>T	ENST00000316081.6	+	1	2755	c.2755G>T	c.(2755-2757)Gaa>Taa	p.E919*	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E919*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	919					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.E919*(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAAAATCTAGAATTAAAATG	0.338																																						uc003oyj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	breast(3)|ovary(2)|skin(1)	6						c.(2755-2757)GAA>TAA		tudor domain containing 6							61.0	67.0	65.0					6																	46658620		2203	4299	6502	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658620G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2755G>T	6.37:g.46658620G>T	ENSP00000346065:p.Glu919*					TDRD6_uc010jze.2_Nonsense_Mutation_p.E913*	p.E919*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2755	+			919					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.2755G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526548	0.85706	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.74	5.74	0.90152	.	0.881329	0.10329	N	0.687849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-5.2069	19.918	0.97070	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	ENSP00000346065:E919X	E	+	1	0	TDRD6	46766579	1.000000	0.71417	0.714000	0.30535	0.051000	0.14879	3.009000	0.49552	2.706000	0.92434	0.650000	0.86243	GAA		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		20	155	1	0	3.8784e-16	0.012319	4.06287e-16	20	155		
MEP1A	4224	broad.mit.edu	37	6	46794205	46794205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:46794205G>A	ENST00000230588.4	+	9	902	c.893G>A	c.(892-894)gGa>gAa	p.G298E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	298	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G298E(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTCAGGCTGGAGAAGTGGAT	0.488																																						uc010jzh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|ovary(1)	3						c.(892-894)GGA>GAA		meprin A alpha precursor							146.0	134.0	138.0					6																	46794205		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46794205G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.893G>A	6.37:g.46794205G>A	ENSP00000230588:p.Gly298Glu					MEP1A_uc011dwg.1_Missense_Mutation_p.G20E|MEP1A_uc011dwh.1_Missense_Mutation_p.G326E|MEP1A_uc011dwi.1_Missense_Mutation_p.G198E	p.G298E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		9	935	+			298			Extracellular (Potential).|MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.893G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077370	0.36662	.	.	ENSG00000112818	ENST00000230588	T	0.01981	4.52	5.9	3.11	0.35812	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.465597	0.21891	N	0.067583	T	0.00784	0.0026	L	0.38953	1.18	0.09310	N	1	B;B	0.27351	0.176;0.023	B;B	0.32342	0.144;0.055	T	0.49051	-0.8979	10	0.45353	T	0.12	-3.5238	5.2648	0.15593	0.1288:0.116:0.6351:0.1201	.	326;298	B7ZL91;Q16819	.;MEP1A_HUMAN	E	298	ENSP00000230588:G298E	ENSP00000230588:G298E	G	+	2	0	MEP1A	46902164	0.919000	0.31177	0.149000	0.22428	0.992000	0.81027	1.746000	0.38288	0.376000	0.24707	0.655000	0.94253	GGA		0.488	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1		NM_005588		48	81	0	0	0	0.01441	0	48	81		
PKHD1	5314	broad.mit.edu	37	6	51908451	51908451	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:51908451G>A	ENST00000371117.3	-	26	3068	c.2793C>T	c.(2791-2793)ccC>ccT	p.P931P	PKHD1_ENST00000340994.4_Silent_p.P931P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	931	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P931P(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATGGACACAGGGAGTTGACC	0.473																																						uc003pah.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2791-2793)CCC>CCT		fibrocystin isoform 1							132.0	112.0	118.0					6																	51908451		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51908451G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2793C>T	6.37:g.51908451G>A						PKHD1_uc003pai.2_Silent_p.P931P	p.P931P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			26	3069	-	Lung NSC(77;0.0605)		931			IPT/TIG 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.2793C>T	CCDS4935.1																																																																																				0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		37	34	0	0	0	0.003755	0	37	34		
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:90604653A>G	ENST00000369352.1	+	1	466	c.466A>G	c.(466-468)Act>Gct	p.T156A		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	156					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.T156A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438																																						uc011eaa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(466-468)ACT>GCT		gap junction protein, alpha 10							133.0	128.0	130.0					6																	90604653		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604653A>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.466A>G	6.37:g.90604653A>G	ENSP00000358358:p.Thr156Ala						p.T156A	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	466	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	156			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.466A>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743699	0.69418	.	.	ENSG00000135355	ENST00000369352	D	0.97752	-4.52	4.91	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.70595	2.14	0.49915	D	0.999837	D	0.89917	1.0	D	0.81914	0.995	D	0.98152	1.0442	10	0.72032	D	0.01	.	11.8107	0.52181	0.8436:0.1564:0.0:0.0	.	156	Q969M2	CXA10_HUMAN	A	156	ENSP00000358358:T156A	ENSP00000358358:T156A	T	+	1	0	GJA10	90661374	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.187000	0.77730	0.905000	0.36596	0.460000	0.39030	ACT		0.438	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1		NM_032602		59	83	0	0	0	0.01441	0	59	83		
EPHA7	2045	broad.mit.edu	37	6	94068097	94068097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:94068097G>A	ENST00000369303.4	-	4	1049	c.865C>T	c.(865-867)Caa>Taa	p.Q289*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	289	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.Q289*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGAAGATCTTGAGAGGAAGAC	0.413																																						uc003poe.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(865-867)CAA>TAA		ephrin receptor EphA7 precursor							78.0	73.0	75.0					6																	94068097		2203	4300	6503	SO:0001587	stop_gained	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94068097G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.865C>T	6.37:g.94068097G>A	ENSP00000358309:p.Gln289*					EPHA7_uc003pof.2_Nonsense_Mutation_p.Q289*|EPHA7_uc011eac.1_Nonsense_Mutation_p.Q289*	p.Q289*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	4	1106	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	289			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Nonsense_Mutation	SNP	ENST00000369303.4	37	c.865C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	40	7.982465	0.98594	.	.	ENSG00000135333	ENST00000369303	.	.	.	5.62	5.62	0.85841	.	0.132773	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	.	.	.	X	289	.	ENSP00000358309:Q289X	Q	-	1	0	EPHA7	94124818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.843000	0.86859	2.652000	0.90054	0.655000	0.94253	CAA		0.413	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1				11	25	0	0	0	0.013537	0	11	25		
FHL5	9457	broad.mit.edu	37	6	97051647	97051647	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:97051647A>T	ENST00000326771.2	+	3	538	c.158A>T	c.(157-159)aAg>aTg	p.K53M	FHL5_ENST00000541107.1_Splice_Site_p.K53M	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	53	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K53M(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TCTGATTCTAAGGTAAGTCTC	0.358																																						uc003pos.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(157-159)AAG>ATG		activator of cAMP-responsive element modulator							107.0	101.0	103.0					6																	97051647		2203	4300	6503	SO:0001630	splice_region_variant	9457					nucleus	zinc ion binding	g.chr6:97051647A>T	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.159+1A>T	6.37:g.97051647A>T						FHL5_uc003pot.1_Missense_Mutation_p.K53M	p.K53M	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	563	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	53			LIM zinc-binding 1.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.158A>T	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027214	0.54683	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87412	-2.25;-2.25;-2.25	5.74	5.74	0.90152	Zinc finger, LIM-type (5);	0.000000	0.47455	D	0.000221	D	0.91985	0.7461	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93134	0.6535	10	0.87932	D	0	.	16.0353	0.80625	1.0:0.0:0.0:0.0	.	53	Q5TD97	FHL5_HUMAN	M	53	ENSP00000442357:K53M;ENSP00000326022:K53M;ENSP00000396390:K53M	ENSP00000326022:K53M	K	+	2	0	FHL5	97158368	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	2.451000	0.44952	2.178000	0.69098	0.533000	0.62120	AAG		0.358	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1		NM_020482	Missense_Mutation	42	64	0	0	0	0.00874	0	42	64		
SIM1	6492	broad.mit.edu	37	6	100841697	100841697	+	Silent	SNP	G	G	A	rs200106103	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:100841697G>A	ENST00000369208.3	-	11	2018	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	SIM1_ENST00000262901.4_Silent_p.T412T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	412	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T412T(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGCCGTGTCGGTCAAGGGAC	0.572																																						uc003pqj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)	4						c.(1234-1236)ACC>ACT		single-minded homolog 1							40.0	39.0	39.0					6																	100841697		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841697G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1236C>T	6.37:g.100841697G>A						SIM1_uc010kcu.2_Silent_p.T412T	p.T412T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1443	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	412			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1236C>T	CCDS5045.1																																																																																				0.572	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3		NM_005068		21	22	0	0	0	0.014323	0	21	22		
TRAF3IP2	10758	broad.mit.edu	37	6	111913025	111913025	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:111913025C>T	ENST00000340026.6	-	3	886	c.292G>A	c.(292-294)Gag>Aag	p.E98K	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E89K|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.E89K			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	98	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.E98K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TCACTGTCCTCCAGAACTTGA	0.567																																						uc011ebc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(265-267)GAG>AAG		TRAF3 interacting protein 2 isoform 2							65.0	66.0	66.0					6																	111913025		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111913025C>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.292G>A	6.37:g.111913025C>T	ENSP00000345984:p.Glu98Lys					TRAF3IP2_uc003pvg.2_Missense_Mutation_p.E89K|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.E89K|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.E89K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.E89K	p.E89K	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	880	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	98					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.265G>A		.	.	.	.	.	.	.	.	.	.	C	18.73	3.687317	0.68157	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.49720	0.81;0.79;0.77	5.91	5.91	0.95273	.	0.077674	0.56097	D	0.000039	T	0.45975	0.1369	M	0.61703	1.905	0.80722	D	1	P;P;P	0.49559	0.792;0.925;0.682	B;P;B	0.49752	0.326;0.621;0.244	T	0.48547	-0.9026	10	0.59425	D	0.04	-2.0436	13.7505	0.62904	0.0:0.9272:0.0:0.0728	.	98;89;89	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	K	98;89;98;89	ENSP00000357750:E89K;ENSP00000345984:E98K;ENSP00000352889:E89K	ENSP00000345984:E98K	E	-	1	0	TRAF3IP2	112019718	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.334000	0.33827	2.809000	0.96659	0.555000	0.69702	GAG		0.567	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2				37	55	0	0	0	0.004289	0	37	55		
SOGA3	387104	broad.mit.edu	37	6	127797109	127797109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:127797109C>T	ENST00000525778.1	-	6	2807	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	SOGA3_ENST00000481848.2_Missense_Mutation_p.D688N|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Missense_Mutation_p.D688N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D688N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D688N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	688					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.D688N(1)									CGCGCGCTGTCGTGGCCGCCG	0.652																																						uc003qbd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(2)|skin(1)	6						c.(2062-2064)GAC>AAC		hypothetical protein LOC387104 precursor							71.0	77.0	75.0					6																	127797109		2190	4293	6483	SO:0001583	missense	387104					integral to membrane		g.chr6:127797109C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2062G>A	6.37:g.127797109C>T	ENSP00000434570:p.Asp688Asn					C6orf174_uc003qbc.2_5'Flank	p.D688N	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	2927	-			688			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.2062G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737711	0.49045	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.31510	1.5;1.5;1.5;1.49	5.08	5.08	0.68730	.	0.376750	0.32578	N	0.005903	T	0.17109	0.0411	N	0.19112	0.55	0.33983	D	0.648164	P	0.45348	0.856	P	0.45998	0.5	T	0.02424	-1.1161	10	0.38643	T	0.18	-4.9172	18.4702	0.90771	0.0:1.0:0.0:0.0	.	688	Q5TF21	CF174_HUMAN	N	688	ENSP00000451768:D688N;ENSP00000357251:D688N;ENSP00000434570:D688N;ENSP00000435559:D688N	ENSP00000435559:D688N	D	-	1	0	C6orf174	127838802	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	7.666000	0.83877	2.357000	0.79964	0.561000	0.74099	GAC		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		22	37	0	0	0	0.003954	0	22	37		
MYB	4602	broad.mit.edu	37	6	135521495	135521495	+	Missense_Mutation	SNP	G	G	A	rs113182184	byFrequency	TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:135521495G>A	ENST00000367814.4	+	12	1715	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	MYB_ENST00000341911.5_Missense_Mutation_p.G631E|MYB_ENST00000528774.1_Missense_Mutation_p.G628E|MYB_ENST00000527615.1_Missense_Mutation_p.G510E|MYB_ENST00000534044.1_Missense_Mutation_p.G510E|MYB_ENST00000442647.2_Missense_Mutation_p.G507E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.G615E|MYB_ENST00000316528.8_Missense_Mutation_p.G510E|MYB_ENST00000533624.1_Missense_Mutation_p.G475E|MYB_ENST00000525369.1_Missense_Mutation_p.G425E	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	510					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G631E(1)|p.G510E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATGAATCTGGAATTGTTGCT	0.428			T	NFIB	adenoid cystic carcinoma								G|||	9	0.00179712	0.0068	0.0	5008	,	,		21769	0.0		0.0	False		,,,				2504	0.0					uc003qfc.2		NaN		Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		2	Substitution - Missense(2)		urinary_tract(2)	lung(1)	1						c.(1528-1530)GGA>GAA		v-myb myeloblastosis viral oncogene homolog		G	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY	27,4379	33.5+/-64.1	0,27,2176	117.0	115.0	116.0		1520,1892,1883,1274,1844,1529,1424,1529	3.0	1.0	6	dbSNP_132	116	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense	MYB	NM_001130172.1,NM_001130173.1,NM_001161656.1,NM_001161657.1,NM_001161658.1,NM_001161659.1,NM_001161660.1,NM_005375.2	98,98,98,98,98,98,98,98	0,27,6476	AA,AG,GG		0.0,0.6128,0.2076	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	507/638,631/762,628/759,425/556,615/746,510/604,475/606,510/641	135521495	27,12979	2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135521495G>A		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1529G>A	6.37:g.135521495G>A	ENSP00000356788:p.Gly510Glu					MYB_uc003qfh.2_Missense_Mutation_p.G631E|MYB_uc003qfi.2_Missense_Mutation_p.G615E|MYB_uc010kgi.2_Missense_Mutation_p.G510E|MYB_uc003qfq.2_Missense_Mutation_p.G628E|MYB_uc010kgj.2_Missense_Mutation_p.G475E|MYB_uc003qfo.2_Missense_Mutation_p.G425E|MYB_uc003qfu.2_Missense_Mutation_p.G507E|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.G136E|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.G322E|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G510E	p.G510E	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	12	1728	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	510					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.1529G>A	CCDS5174.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.34	2.805059	0.50315	0.006128	0.0	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.88	3.05	0.35203	C-myb, C-terminal (1);	0.351911	0.30940	N	0.008580	T	0.28732	0.0712	L	0.51422	1.61	0.22185	N	0.999301	P;D;D;D;B;P;P;B;D	0.63046	0.909;0.986;0.985;0.965;0.015;0.458;0.889;0.028;0.992	P;D;P;D;B;P;P;B;D	0.68483	0.711;0.958;0.747;0.909;0.021;0.568;0.705;0.012;0.958	T	0.11470	-1.0586	10	0.32370	T	0.25	-8.0557	11.2109	0.48797	0.0:0.2737:0.5994:0.1269	.	475;510;507;628;425;615;631;510;510	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	E	631;507;510;510;510;510;425;628;615;510;475	ENSP00000339992:G631E;ENSP00000410825:G507E;ENSP00000326328:G510E;ENSP00000356788:G510E;ENSP00000433227:G510E;ENSP00000435938:G425E;ENSP00000434723:G628E;ENSP00000432851:G615E;ENSP00000435055:G510E;ENSP00000436605:G475E	ENSP00000237302:G510E	G	+	2	0	MYB	135563188	0.999000	0.42202	0.992000	0.48379	0.991000	0.79684	2.102000	0.41796	0.563000	0.29222	0.655000	0.94253	GGA		0.428	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4				45	50	0	0	0	0.00874	0	45	50		
PDE7B	27115	broad.mit.edu	37	6	136502427	136502427	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:136502427G>C	ENST00000308191.6	+	11	1314	c.1011G>C	c.(1009-1011)tgG>tgC	p.W337C	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	337	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.W337C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCAAGCAGTGGAGTGAAAGGG	0.438																																						uc003qgp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1009-1011)TGG>TGC		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						194.0	202.0	200.0					6																	136502427		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136502427G>C	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1011G>C	6.37:g.136502427G>C	ENSP00000310661:p.Trp337Cys					uc003qgq.1_Intron|PDE7B_uc003qgr.2_Missense_Mutation_p.W389C	p.W337C	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	11	1314	+	Colorectal(23;0.24)		337			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.1011G>C	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648137	0.87958	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	D	0.82433	-1.61	5.78	5.78	0.91487	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94876	0.8344	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96169	0.9121	10	0.87932	D	0	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	389;337	A1E5M1;Q9NP56	.;PDE7B_HUMAN	C	337;473	ENSP00000310661:W337C	ENSP00000310661:W337C	W	+	3	0	PDE7B	136544120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.734000	0.93682	0.563000	0.77884	TGG		0.438	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1				25	119	0	0	0	0.004656	0	25	119		
GPR126	57211	broad.mit.edu	37	6	142691518	142691518	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:142691518G>C	ENST00000230173.6	+	4	1133	c.657G>C	c.(655-657)aaG>aaC	p.K219N	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.K219N|GPR126_ENST00000367608.2_Missense_Mutation_p.K219N|GPR126_ENST00000367609.3_Missense_Mutation_p.K219N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	219	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K218N(1)|p.K219N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GAAAGGCCAAGAGTGGCTACT	0.388																																						uc010khc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(655-657)AAG>AAC		G protein-coupled receptor 126 alpha 1							56.0	54.0	55.0					6																	142691518		1870	4114	5984	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691518G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.657G>C	6.37:g.142691518G>C	ENSP00000230173:p.Lys219Asn					GPR126_uc010khd.2_Missense_Mutation_p.K219N|GPR126_uc010khe.2_Missense_Mutation_p.K219N|GPR126_uc010khf.2_Missense_Mutation_p.K219N|GPR126_uc003qix.2_Missense_Mutation_p.K219N	p.K219N	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	1068	+	Breast(32;0.176)		219			Pentaxin.|Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.657G>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895780	0.17686	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;3.27	5.4	-2.3	0.06785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.502820	0.03637	N	0.238823	T	0.17704	0.0425	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.001;0.002;0.003;0.001	B;B;B;B;B	0.14023	0.006;0.006;0.006;0.01;0.002	T	0.07616	-1.0763	10	0.31617	T	0.26	.	1.4327	0.02337	0.2873:0.3932:0.1314:0.1881	.	219;219;219;219;218	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	N	219;219;219;219;218	ENSP00000230173:K219N;ENSP00000356580:K219N;ENSP00000296932:K219N;ENSP00000356581:K219N;ENSP00000446287:K218N	ENSP00000230173:K219N	K	+	3	2	GPR126	142733211	0.000000	0.05858	0.000000	0.03702	0.739000	0.42172	0.315000	0.19451	-0.306000	0.08818	0.650000	0.86243	AAG		0.388	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2				11	31	0	0	0	0.013537	0	11	31		
PPIL4	85313	broad.mit.edu	37	6	149856762	149856762	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:149856762T>C	ENST00000253329.2	-	5	466	c.434A>G	c.(433-435)gAc>gGc	p.D145G		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	145	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.D145G(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		AAAGTCCTTGTCAACAAAGGT	0.353																																						uc003qmo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(433-435)GAC>GGC		peptidylprolyl isomerase-like 4							129.0	117.0	121.0					6																	149856762		2203	4299	6502	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149856762T>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.434A>G	6.37:g.149856762T>C	ENSP00000253329:p.Asp145Gly					PPIL4_uc010kic.2_RNA|PPIL4_uc003qmp.1_Missense_Mutation_p.D145G	p.D145G	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	5	464	-		Ovarian(120;0.0164)	145			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.434A>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376081	0.82682	.	.	ENSG00000131013	ENST00000253329	T	0.23147	1.92	4.81	4.81	0.61882	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	M	0.64404	1.975	0.80722	D	1	B;B	0.22683	0.073;0.046	B;B	0.35971	0.215;0.04	T	0.09930	-1.0652	10	0.59425	D	0.04	.	14.6409	0.68723	0.0:0.0:0.0:1.0	.	145;145	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	G	145	ENSP00000253329:D145G	ENSP00000253329:D145G	D	-	2	0	PPIL4	149898455	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.698000	0.84413	1.927000	0.55829	0.477000	0.44152	GAC		0.353	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1				38	77	0	0	0	0.004878	0	38	77		
ARID1B	57492	broad.mit.edu	37	6	157502230	157502230	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:157502230C>T	ENST00000350026.5	+	11	3225	c.3224C>T	c.(3223-3225)tCa>tTa	p.S1075L	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000346085.5_Missense_Mutation_p.S1088L|ARID1B_ENST00000275248.4_Missense_Mutation_p.S1070L|ARID1B_ENST00000367148.1_Missense_Mutation_p.S1128L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1075	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)	p.S1070L(1)|p.S1088L(1)		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)		TCTCCTGTCTCAAGTCTGCCT	0.562																																						uc003qqn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|breast(1)	2						c.(3208-3210)TCA>TTA		AT rich interactive domain 1B (SWI1-like)							78.0	70.0	73.0					6																	157502230		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502230C>T	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.3224C>T	6.37:g.157502230C>T	ENSP00000055163:p.Ser1075Leu					ARID1B_uc003qqo.2_Missense_Mutation_p.S1030L|ARID1B_uc003qqp.2_Missense_Mutation_p.S1017L|ARID1B_uc010kjl.2_Missense_Mutation_p.S215L	p.S1070L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3361	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1075			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3209C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456617	0.43634	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.76	5.76	0.90799	ARID/BRIGHT DNA-binding domain (5);	0.303054	0.36268	N	0.002687	T	0.40979	0.1139	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B	0.24618	0.107;0.056;0.045;0.045	B;B;B;B	0.30316	0.109;0.114;0.069;0.069	T	0.46498	-0.9187	10	0.72032	D	0.01	.	19.9719	0.97287	0.0:1.0:0.0:0.0	.	325;1075;1088;1070	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	1088;1075;1128;1070;545;597;550;142	ENSP00000344546:S1088L;ENSP00000055163:S1075L;ENSP00000356116:S1128L;ENSP00000275248:S1070L;ENSP00000412835:S597L;ENSP00000313006:S550L;ENSP00000383596:S142L	ENSP00000275248:S1070L	S	+	2	0	ARID1B	157543922	0.442000	0.25633	0.104000	0.21259	0.591000	0.36615	2.621000	0.46418	2.718000	0.92993	0.650000	0.86243	TCA		0.562	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		19	21	0	0	0	0.010504	0	19	21		
SYNJ2	8871	broad.mit.edu	37	6	158499228	158499228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:158499228G>C	ENST00000355585.4	+	18	2557	c.2482G>C	c.(2482-2484)Gat>Cat	p.D828H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.D828H|SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D828H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	828					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.D828H(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGTGATCTAGATGTTGACAC	0.493																																						uc003qqx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2482-2484)GAT>CAT		synaptojanin 2							176.0	156.0	163.0					6																	158499228		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158499228G>C	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2482G>C	6.37:g.158499228G>C	ENSP00000347792:p.Asp828His					SYNJ2_uc003qqw.1_Missense_Mutation_p.D828H|SYNJ2_uc003qqy.1_Missense_Mutation_p.D541H|SYNJ2_uc003qqz.1_Missense_Mutation_p.D445H|SYNJ2_uc003qra.1_Missense_Mutation_p.D171H	p.D828H	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	18	2557	+			828			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.2482G>C	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.071952	0.20147	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.94280	-3.13;-3.39;-3.13	5.66	4.69	0.59074	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.870955	0.09928	N	0.737620	D	0.89315	0.6680	L	0.43152	1.355	0.09310	N	0.999999	P;P	0.45986	0.87;0.842	P;P	0.58721	0.844;0.672	T	0.80259	-0.1457	10	0.36615	T	0.2	.	4.6471	0.12577	0.4017:0.0:0.5983:0.0	.	828;828	O15056;O15056-3	SYNJ2_HUMAN;.	H	828	ENSP00000356089:D828H;ENSP00000356088:D828H;ENSP00000347792:D828H	ENSP00000347792:D828H	D	+	1	0	SYNJ2	158419216	0.165000	0.22948	0.001000	0.08648	0.014000	0.08584	3.259000	0.51515	0.098000	0.17522	0.533000	0.62120	GAT		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2				21	103	0	0	0	0.010504	0	21	103		
THBS2	7058	broad.mit.edu	37	6	169648940	169648940	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr6:169648940C>T	ENST00000366787.3	-	4	430	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	61	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.D61N(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGATGTAGTCAAAGCGCACG	0.602																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)	5						c.(181-183)GAC>AAC		thrombospondin 2 precursor							128.0	106.0	113.0					6																	169648940		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648940C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.181G>A	6.37:g.169648940C>T	ENSP00000355751:p.Asp61Asn						p.D61N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	429	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	61			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.181G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130724	0.77549	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02216	4.39;4.39	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.42964	U	0.000635	T	0.04907	0.0132	L	0.54323	1.7	0.51233	D	0.999914	D	0.89917	1.0	D	0.87578	0.998	T	0.59611	-0.7422	10	0.19590	T	0.45	-47.7608	17.4031	0.87466	0.0:1.0:0.0:0.0	.	61	P35442	TSP2_HUMAN	N	61	ENSP00000355751:D61N;ENSP00000398928:D61N	ENSP00000355751:D61N	D	-	1	0	THBS2	169390865	1.000000	0.71417	0.980000	0.43619	0.196000	0.23810	7.304000	0.78882	2.180000	0.69256	0.462000	0.41574	GAC		0.602	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		20	26	0	0	0	0.008871	0	20	26		
LFNG	3955	broad.mit.edu	37	7	2565141	2565141	+	Silent	SNP	C	C	T	rs369216499		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:2565141C>T	ENST00000222725.5	+	4	695	c.675C>T	c.(673-675)gtC>gtT	p.V225V	MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402506.1_Silent_p.V154V|LFNG_ENST00000338732.3_Silent_p.V96V|LFNG_ENST00000359574.3_Silent_p.V225V|LFNG_ENST00000402045.1_Silent_p.V96V	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	225					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.V96V(1)|p.V225V(1)|p.V154V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		ACGTCTACGTCGGCAAGCCCA	0.677																																						uc003smf.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)		0						c.(673-675)GTC>GTT		lunatic fringe isoform a		C	,,,	1,4399	2.1+/-5.4	0,1,2199	31.0	30.0	30.0		675,675,462,288	-6.4	0.1	7		30	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LFNG	NM_001040167.1,NM_001040168.1,NM_001166355.1,NM_002304.2	,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,	225/380,225/362,154/309,96/251	2565141	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565141C>T	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.675C>T	7.37:g.2565141C>T						LFNG_uc003smg.2_Silent_p.V225V	p.V225V	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	4	692	+		Ovarian(82;0.0112)	225			Lumenal (Potential).		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.675C>T	CCDS34587.1																																																																																				0.677	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1		NM_002304		8	14	0	0	0	0.004482	0	8	14		
PMS2	5395	broad.mit.edu	37	7	6027006	6027006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:6027006C>T	ENST00000265849.7	-	11	1495	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.D464N|PMS2_ENST00000441476.2_Missense_Mutation_p.D358N|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	464					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.D464N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACGCCTTTGTCAGAGATGGCA	0.562			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2		NaN	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)	2						c.(1390-1392)GAC>AAC	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							112.0	106.0	108.0					7																	6027006		2203	4300	6503	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6027006C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1390G>A	7.37:g.6027006C>T	ENSP00000265849:p.Asp464Asn					PMS2_uc003spj.2_Missense_Mutation_p.D358N|PMS2_uc003spk.2_Missense_Mutation_p.D329N|PMS2_uc011jwl.1_Missense_Mutation_p.D329N|PMS2_uc010ktg.2_Missense_Mutation_p.D153N|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.D464N	p.D464N	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1477	-		Ovarian(82;0.0694)	464					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1390G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	10.14	1.269530	0.23221	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85861	1.0;1.0;-2.04	5.84	1.62	0.23740	.	3.464940	0.00447	N	0.000082	T	0.74329	0.3702	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29805	0.257;0.072;0.157	B;B;B	0.26864	0.074;0.032;0.069	T	0.58601	-0.7608	10	0.16896	T	0.51	-0.1746	1.8466	0.03161	0.137:0.3998:0.2527:0.2105	.	464;464;358	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	N	464;417;358;464	ENSP00000265849:D464N;ENSP00000392843:D358N;ENSP00000384308:D464N	ENSP00000265849:D464N	D	-	1	0	PMS2	5993532	0.000000	0.05858	0.001000	0.08648	0.395000	0.30598	-0.108000	0.10857	0.325000	0.23359	0.650000	0.86243	GAC		0.562	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3		NM_000535		45	111	0	0	0	0.00874	0	45	111		
BZW2	28969	broad.mit.edu	37	7	16714045	16714045	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:16714045G>C	ENST00000433922.2	+	3	245	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000452975.2_Missense_Mutation_p.E23Q|BZW2_ENST00000258761.3_Missense_Mutation_p.E23Q	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	23					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.E23Q(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGATGAAAAAGAGAAATTCGA	0.328																																						uc003stl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(67-69)GAG>CAG		basic leucine zipper and W2 domains 2							73.0	74.0	74.0					7																	16714045		2203	4300	6503	SO:0001583	missense	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16714045G>C	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.67G>C	7.37:g.16714045G>C	ENSP00000397249:p.Glu23Gln					BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Missense_Mutation_p.E23Q|BZW2_uc003stk.2_5'UTR|BZW2_uc003stn.1_Missense_Mutation_p.E23Q|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Missense_Mutation_p.E23Q	p.E23Q	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	3	245	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		23					A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.67G>C	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037814	0.75617	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.993	D;D;D	0.85130	0.968;0.997;0.968	T	0.71414	-0.4600	10	0.35671	T	0.21	-2.4487	20.8598	0.99761	0.0:0.0:1.0:0.0	.	23;23;23	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	Q	23	ENSP00000403481:E23Q;ENSP00000258761:E23Q;ENSP00000397249:E23Q;ENSP00000411715:E23Q;ENSP00000412750:E23Q;ENSP00000415924:E23Q;ENSP00000416531:E23Q	ENSP00000258761:E23Q	E	+	1	0	BZW2	16680570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAG		0.328	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		NM_014038		18	122	0	0	0	0.007413	0	18	122		
FAM221A	340277	broad.mit.edu	37	7	23731113	23731113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:23731113G>A	ENST00000344962.4	+	4	624	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	FAM221A_ENST00000409192.3_Missense_Mutation_p.E179K|FAM221A_ENST00000409653.1_Missense_Mutation_p.E121K|FAM221A_ENST00000409994.3_Missense_Mutation_p.E121K	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	179								p.E179K(1)									ATTGGCTCAGGAAAAACCAGT	0.493																																						uc003swo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(535-537)GAA>AAA		hypothetical protein LOC340277 isoform 1							157.0	145.0	149.0					7																	23731113		2203	4300	6503	SO:0001583	missense	340277							g.chr7:23731113G>A		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.535G>A	7.37:g.23731113G>A	ENSP00000342576:p.Glu179Lys					C7orf46_uc003swq.3_Missense_Mutation_p.E179K|C7orf46_uc003swr.3_Missense_Mutation_p.E121K|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_RNA	p.E179K	NM_199136	NP_954587	A4D161	CG046_HUMAN			4	624	+			179					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.535G>A	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852912	0.51270	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.54	4.67	0.58626	.	0.105392	0.64402	D	0.000003	T	0.11024	0.0269	N	0.08118	0	0.22866	N	0.998631	B;B;B	0.21753	0.0;0.06;0.017	B;B;B	0.28305	0.0;0.088;0.04	T	0.26018	-1.0115	10	0.62326	D	0.03	-9.7336	12.9772	0.58544	0.0752:0.0:0.9248:0.0	.	121;179;179	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	K	179;179;121;121	ENSP00000386927:E179K;ENSP00000342576:E179K;ENSP00000386900:E121K;ENSP00000386631:E121K	ENSP00000342576:E179K	E	+	1	0	C7orf46	23697638	1.000000	0.71417	0.999000	0.59377	0.281000	0.26958	5.142000	0.64820	1.355000	0.45865	0.460000	0.39030	GAA		0.493	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1		NM_199136		57	137	0	0	0	0.01441	0	57	137		
TAX1BP1	8887	broad.mit.edu	37	7	27797748	27797748	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:27797748C>T	ENST00000396319.2	+	3	349	c.261C>T	c.(259-261)ttC>ttT	p.F87F	TAX1BP1_ENST00000543117.1_Silent_p.F87F|TAX1BP1_ENST00000409980.1_Silent_p.F87F|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.F87F	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	87					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.F87F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TACTAGCATTCCAAGGTAAGG	0.388																																						uc003szl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(259-261)TTC>TTT		Tax1 (human T-cell leukemia virus type I)							181.0	149.0	160.0					7																	27797748		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27797748C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.261C>T	7.37:g.27797748C>T						TAX1BP1_uc011jzo.1_Silent_p.F87F|TAX1BP1_uc003szk.2_Silent_p.F87F|TAX1BP1_uc011jzp.1_5'UTR	p.F87F	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		3	419	+			87					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.261C>T	CCDS5415.1																																																																																				0.388	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024		20	110	0	0	0	0.008871	0	20	110		
CHN2	1124	broad.mit.edu	37	7	29234571	29234571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:29234571G>A	ENST00000222792.6	+	1	544	c.14G>A	c.(13-15)aGc>aAc	p.S5N	CHN2_ENST00000546235.1_5'Flank|CPVL_ENST00000488891.2_Intron|CHN2_ENST00000539389.1_Missense_Mutation_p.S5N|CPVL_ENST00000409850.1_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.S5N|CHN2_ENST00000435288.2_Missense_Mutation_p.S5N|CHN2_ENST00000539406.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	5				MAASSN -> MRLL (in Ref. 1; AAA16836/ AAA19191). {ECO:0000305}.	positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.S5N(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						gcagcgTCCAGCAACTCCAGC	0.776																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(13-15)AGC>AAC		beta chimerin isoform 2							24.0	27.0	26.0					7																	29234571		2200	4296	6496	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29234571G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.14G>A	7.37:g.29234571G>A	ENSP00000222792:p.Ser5Asn					CHN2_uc011jzs.1_Intron|CHN2_uc010kva.2_Missense_Mutation_p.S5N|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_5'UTR|CHN2_uc011jzt.1_Missense_Mutation_p.S5N|CHN2_uc010kvd.2_Missense_Mutation_p.S5N|CHN2_uc011jzu.1_5'Flank|CPVL_uc003szx.2_Intron	p.S5N	NM_004067	NP_004058	P52757	CHIO_HUMAN			1	451	+			5	MAASSN -> MRLL (in Ref. 1; AAA16836/ AAA19191).				A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.14G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306708	0.60305	.	.	ENSG00000106069	ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000539389	T;T;D;T;T	0.86030	-0.56;1.97;-2.06;-0.6;-0.66	4.07	4.07	0.47477	.	0.120358	0.53938	D	0.000060	D	0.84911	0.5577	N	0.22421	0.69	0.80722	D	1	P;B;B;P	0.48350	0.909;0.273;0.273;0.909	P;B;B;P	0.57776	0.827;0.213;0.213;0.483	D	0.86293	0.1675	10	0.49607	T	0.09	.	15.341	0.74296	0.0:0.0:1.0:0.0	.	5;5;5;5	B7Z1V0;B3VCG1;B3VCF8;P52757	.;.;.;CHIO_HUMAN	N	5	ENSP00000222792:S5N;ENSP00000400282:S5N;ENSP00000386968:S5N;ENSP00000438587:S5N;ENSP00000440526:S5N	ENSP00000222792:S5N	S	+	2	0	CHN2	29201096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.504000	0.66968	1.962000	0.57031	0.462000	0.41574	AGC		0.776	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2		NM_004067		7	18	0	0	0	0.006214	0	7	18		
BMPER	168667	broad.mit.edu	37	7	34125385	34125385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:34125385G>C	ENST00000297161.2	+	14	1800	c.1426G>C	c.(1426-1428)Gat>Cat	p.D476H	BMPER_ENST00000426693.1_Missense_Mutation_p.D476H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	476	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.D476H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AATATCTTGGGATGGAGACAG	0.423																																						uc011kap.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(1426-1428)GAT>CAT		BMP-binding endothelial regulator precursor							72.0	64.0	66.0					7																	34125385		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125385G>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1426G>C	7.37:g.34125385G>C	ENSP00000297161:p.Asp476His						p.D476H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1540	+			476			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1426G>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743904	0.89663	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64085	-0.08;-0.08	6.08	6.08	0.98989	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89824	0.3991	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	476	Q8N8U9	BMPER_HUMAN	H	476	ENSP00000297161:D476H;ENSP00000393950:D476H	ENSP00000297161:D476H	D	+	1	0	BMPER	34091910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.209000	0.95087	2.894000	0.99253	0.655000	0.94253	GAT		0.423	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2		NM_133468		8	47	0	0	0	0.00308	0	8	47		
TRGC1	6966	broad.mit.edu	37	7	38305062	38305062	+	RNA	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:38305062G>C	ENST00000443402.2	-	0	217					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											CCGTTAACCAGCTAAATTTCA	0.393																																						uc003tge.1		NaN																	0					0						c.(643-645)AGC>AGG		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							198.0	188.0	191.0					7																	38305062		1839	4095	5934			445347							g.chr7:38305062G>C	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305062G>C						uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.S11R|TARP_uc003tgc.1_Missense_Mutation_p.S11R|TARP_uc003tgd.1_Missense_Mutation_p.S11R|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.S215R			A2JGV3	A2JGV3_HUMAN			5	1022	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Missense_Mutation	SNP	ENST00000443402.2	37	c.645C>G																																																																																					0.393	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3		NG_001336		54	266	0	0	0	0.01441	0	54	266		
NPC1L1	29881	broad.mit.edu	37	7	44579102	44579102	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:44579102G>A	ENST00000289547.4	-	2	949	c.894C>T	c.(892-894)gtC>gtT	p.V298V	NPC1L1_ENST00000546276.1_Silent_p.V298V|NPC1L1_ENST00000423141.1_Silent_p.V298V|NPC1L1_ENST00000381160.3_Silent_p.V298V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	298					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.V298V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAGGATGGTGACCACAGCGA	0.612																																						uc003tlb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(892-894)GTC>GTT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						86.0	90.0	89.0					7																	44579102		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579102G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.894C>T	7.37:g.44579102G>A						NPC1L1_uc003tlc.2_Silent_p.V298V|NPC1L1_uc011kbw.1_Silent_p.V298V|NPC1L1_uc003tld.2_Silent_p.V298V	p.V298V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	950	-			298			Helical; Name=1; (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.894C>T	CCDS5491.1																																																																																				0.612	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		20	87	0	0	0	0.007413	0	20	87		
TNS3	64759	broad.mit.edu	37	7	47467943	47467943	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:47467943G>A	ENST00000398879.1	-	9	722	c.356C>T	c.(355-357)tCa>tTa	p.S119L	TNS3_ENST00000355730.3_Missense_Mutation_p.S119L|TNS3_ENST00000442536.2_Missense_Mutation_p.S119L|TNS3_ENST00000458317.2_Missense_Mutation_p.S119L|TNS3_ENST00000311160.9_Missense_Mutation_p.S119L			Q68CZ2	TENS3_HUMAN	tensin 3	119	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.S119L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATGTAGGATGATATGACCAC	0.493																																						uc003tnv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(355-357)TCA>TTA		tensin 3							120.0	117.0	118.0					7																	47467943		2054	4209	6263	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47467943G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.356C>T	7.37:g.47467943G>A	ENSP00000381854:p.Ser119Leu					TNS3_uc003tnw.2_Missense_Mutation_p.S119L|TNS3_uc010kyo.1_Missense_Mutation_p.S119L	p.S119L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			9	723	-			119			Phosphatase tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.356C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	32	5.181648	0.94885	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929	D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	5.82	5.82	0.92795	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99036	0.9670	M	0.87269	2.87	0.53688	D	0.999979	D;D	0.76494	0.997;0.999	D;D	0.80764	0.993;0.994	D	0.99541	1.0963	10	0.56958	D	0.05	-23.0052	17.5737	0.87942	0.0:0.0:1.0:0.0	.	119;119	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	L	119;229;119;119;222;208;119;119;119	ENSP00000312143:S119L;ENSP00000381854:S119L;ENSP00000347968:S119L;ENSP00000414358:S222L;ENSP00000396914:S208L;ENSP00000389285:S119L;ENSP00000388318:S119L;ENSP00000409415:S119L	ENSP00000312143:S119L	S	-	2	0	TNS3	47434468	1.000000	0.71417	0.238000	0.24106	0.960000	0.62799	6.659000	0.74412	2.736000	0.93811	0.655000	0.94253	TCA		0.493	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748		25	93	0	0	0	0.00632	0	25	93		
SUN3	256979	broad.mit.edu	37	7	48046822	48046822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:48046822C>T	ENST00000297325.4	-	5	591	c.432G>A	c.(430-432)atG>atA	p.M144I	SUN3_ENST00000412142.1_Missense_Mutation_p.M44I|SUN3_ENST00000395572.2_Missense_Mutation_p.M144I|SUN3_ENST00000453192.2_Missense_Mutation_p.M132I	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	144						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.M144I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATTATTGTCCATACCATCCT	0.483																																						uc003tof.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(430-432)ATG>ATA		Sad1 and UNC84 domain containing 1							157.0	150.0	152.0					7																	48046822		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48046822C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.432G>A	7.37:g.48046822C>T	ENSP00000297325:p.Met144Ile					SUN3_uc010kyq.2_Missense_Mutation_p.M44I|SUN3_uc003tog.2_Missense_Mutation_p.M144I|SUN3_uc011kcf.1_Missense_Mutation_p.M132I	p.M144I	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			6	529	-			144			Potential.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.432G>A	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.711|9.711	1.157021|1.157021	0.21454|0.21454	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T|.	0.21361|.	2.01;2.04;2.01;2.62;2.04|.	5.56|5.56	-3.12|-3.12	0.05282|0.05282	.|.	1.809800|.	0.02965|.	N|.	0.143720|.	T|.	0.17916|.	0.0430|.	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.13594|.	0.0;0.0;0.008|.	B;B;B|.	0.06405|.	0.002;0.0;0.002|.	T|.	0.29610|.	-1.0006|.	10|.	0.02654|.	T|.	1|.	.|.	6.3851|6.3851	0.21556|0.21556	0.1371:0.2834:0.0:0.5795|0.1371:0.2834:0.0:0.5795	.|.	132;44;144|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	I|X	144;44;144;132;44|64	ENSP00000297325:M144I;ENSP00000410204:M44I;ENSP00000378939:M144I;ENSP00000387525:M132I;ENSP00000409077:M44I|.	ENSP00000297325:M144I|.	M|W	-|-	3|2	0|0	SUN3|SUN3	48013347|48013347	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.711000|-1.711000	0.01886|0.01886	-0.782000|-0.782000	0.04541|0.04541	-0.783000|-0.783000	0.03347|0.03347	ATG|TGG		0.483	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1		NM_152782		21	70	0	0	0	0.008871	0	21	70		
ZNF713	349075	broad.mit.edu	37	7	56007179	56007179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:56007179C>T	ENST00000429591.2	+	4	811	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S258L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCCACACCTCATCTCTTAGC	0.423																																						uc003trc.1		NaN																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|urinary_tract(1)	ovary(2)	2						c.(772-774)TCA>TTA		zinc finger protein 713							57.0	59.0	58.0					7																	56007179		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007179C>T	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.773C>T	7.37:g.56007179C>T	ENSP00000416662:p.Ser258Leu					ZNF713_uc003tra.1_Missense_Mutation_p.S271L|MRPS17_uc003trb.2_Intron	p.S258L	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	811	+	Breast(14;0.214)		258						Missense_Mutation	SNP	ENST00000429591.2	37	c.773C>T	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	C	6.256	0.415375	0.11870	.	.	ENSG00000178665	ENST00000429591	T	0.17854	2.25	3.27	3.27	0.37495	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32416	N	0.006123	T	0.26448	0.0646	M	0.86573	2.825	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29458	-1.0011	10	0.87932	D	0	.	12.8313	0.57748	0.0:1.0:0.0:0.0	.	258	Q8N859	ZN713_HUMAN	L	258	ENSP00000416662:S258L	ENSP00000416662:S258L	S	+	2	0	ZNF713	55974673	0.000000	0.05858	0.547000	0.28179	0.016000	0.09150	0.302000	0.19192	2.132000	0.65825	0.591000	0.81541	TCA		0.423	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1		NM_182633		24	65	0	0	0	0.003954	0	24	65		
CLDN4	1364	broad.mit.edu	37	7	73246019	73246019	+	Missense_Mutation	SNP	C	C	T	rs200176069		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:73246019C>T	ENST00000435050.1	+	2	3168	c.488C>T	c.(487-489)tCg>tTg	p.S163L	CLDN4_ENST00000431918.1_Missense_Mutation_p.S163L|CLDN4_ENST00000340958.2_Missense_Mutation_p.S163L			O14493	CLD4_HUMAN	claudin 4	163					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.S163L(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATGGGTGCCTCGCTCTACGTC	0.637													C|||	0	0.0	0.0	0.0	5008	,	,		17729	0.0		0.0	False		,,,				2504	0.0					uc003tzi.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(487-489)TCG>TTG		claudin 4							56.0	56.0	56.0					7																	73246019		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73246019C>T	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.488C>T	7.37:g.73246019C>T	ENSP00000409544:p.Ser163Leu					RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	p.S163L	NM_001305	NP_001296	O14493	CLD4_HUMAN			1	827	+		Lung NSC(55;0.159)	163			Helical; (Potential).			Missense_Mutation	SNP	ENST00000435050.1	37	c.488C>T	CCDS5560.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.52	3.843772	0.71488	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.91894	-2.93;-2.93;-2.93	5.4	4.51	0.55191	.	0.262023	0.38005	N	0.001852	D	0.95236	0.8455	M	0.91818	3.245	0.28064	N	0.932864	D	0.56521	0.976	P	0.51974	0.686	D	0.91504	0.5221	10	0.66056	D	0.02	.	13.8259	0.63351	0.0:0.8453:0.1547:0.0	.	163	O14493	CLD4_HUMAN	L	163;163;163;150	ENSP00000409544:S163L;ENSP00000388639:S163L;ENSP00000342445:S163L	ENSP00000342445:S163L	S	+	2	0	CLDN4	72883955	0.364000	0.24997	0.024000	0.17045	0.228000	0.25075	4.740000	0.62087	1.253000	0.44018	0.655000	0.94253	TCG		0.637	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1		NM_001305		7	28	0	0	0	0.006214	0	7	28		
TMEM130	222865	broad.mit.edu	37	7	98460916	98460916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:98460916C>T	ENST00000416379.2	-	2	197	c.193G>A	c.(193-195)Gct>Act	p.A65T	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Missense_Mutation_p.A46T|TMEM130_ENST00000450876.1_5'UTR|TMEM130_ENST00000339375.4_Missense_Mutation_p.A65T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	65						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A65T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGCGTCAGCGGGCAGGGCC	0.642																																						uc003upo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(193-195)GCT>ACT		transmembrane protein 130 isoform a							54.0	50.0	51.0					7																	98460916		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98460916C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.193G>A	7.37:g.98460916C>T	ENSP00000413163:p.Ala65Thr					TMEM130_uc011kiq.1_Missense_Mutation_p.A46T|TMEM130_uc011kir.1_Missense_Mutation_p.A65T|TMEM130_uc003upn.2_Intron	p.A65T	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	382	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		65			Extracellular (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.193G>A	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.799256	0.00617	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000546258	T;T;T	0.12569	2.67;2.67;2.67	4.28	-3.09	0.05331	.	0.877727	0.09755	N	0.760081	T	0.03520	0.0101	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.44847	-0.9301	10	0.12766	T	0.61	-6.2021	5.9152	0.19052	0.0:0.4178:0.1431:0.4391	.	65;46;65	Q8N3G9-2;B7Z2F1;Q8N3G9	.;.;TM130_HUMAN	T	65;65;46	ENSP00000413163:A65T;ENSP00000341256:A65T;ENSP00000445869:A46T	ENSP00000341256:A65T	A	-	1	0	TMEM130	98298852	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.422000	0.00476	-0.814000	0.04352	0.505000	0.49811	GCT		0.642	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1		NM_152913		6	11	0	0	0	0.00308	0	6	11		
SLC26A4	5172	broad.mit.edu	37	7	107342406	107342406	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:107342406C>G	ENST00000265715.3	+	17	2162	c.1938C>G	c.(1936-1938)gtC>gtG	p.V646V	SLC26A4_ENST00000544569.1_Silent_p.V233V|SLC26A4_ENST00000541474.1_Silent_p.V207V|SLC26A4_ENST00000543100.1_Silent_p.V215V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	646	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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)	p.V646V(1)		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						AGCTTCCAGTCAAAGTGAACG	0.453									Pendred syndrome																													uc003vep.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1936-1938)GTC>GTG		pendrin							128.0	110.0	116.0					7																	107342406		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:107342406C>G	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.1938C>G	7.37:g.107342406C>G						SLC26A4_uc011kmb.1_Silent_p.V233V|SLC26A4_uc011kmc.1_Silent_p.V207V|SLC26A4_uc011kmd.1_Silent_p.V215V	p.V646V	NM_000441	NP_000432	O43511	S26A4_HUMAN			17	2162	+			646			STAS.|Cytoplasmic (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1938C>G	CCDS5746.1																																																																																				0.453	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441		14	76	0	0	0	0.001855	0	14	76		
LRRN3	54674	broad.mit.edu	37	7	110764893	110764893	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:110764893G>C	ENST00000422987.3	+	2	2896	c.2065G>C	c.(2065-2067)Gaa>Caa	p.E689Q	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E689Q|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.E689Q|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	689					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E689Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCAGGAAAAGAAAAAAGTAC	0.368																																						uc003vft.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(2065-2067)GAA>CAA		leucine rich repeat neuronal 3 precursor							65.0	69.0	68.0					7																	110764893		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764893G>C	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2065G>C	7.37:g.110764893G>C	ENSP00000412417:p.Glu689Gln					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E689Q|LRRN3_uc003vfs.3_Missense_Mutation_p.E689Q	p.E689Q	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3111	+			689			Cytoplasmic (Potential).		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.2065G>C	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397961	0.83120	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.51574	0.7;0.7;0.7	5.57	5.57	0.84162	.	0.091120	0.47093	D	0.000245	T	0.55000	0.1893	M	0.77103	2.36	0.43953	D	0.99662	P	0.39216	0.664	B	0.37943	0.261	T	0.61637	-0.7022	10	0.62326	D	0.03	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	689	Q9H3W5	LRRN3_HUMAN	Q	689	ENSP00000312001:E689Q;ENSP00000397312:E689Q;ENSP00000412417:E689Q	ENSP00000312001:E689Q	E	+	1	0	LRRN3	110552129	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.215000	0.65241	2.785000	0.95823	0.591000	0.81541	GAA		0.368	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2		NM_018334		11	84	0	0	0	0.010729	0	11	84		
DOCK4	9732	broad.mit.edu	37	7	111634279	111634279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:111634279C>G	ENST00000437633.1	-	5	482	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.E76Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	76					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E64Q(1)|p.E76Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATAACCATTTCAAATTGTCTG	0.308																																						uc003vfx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(226-228)GAA>CAA		dedicator of cytokinesis 4							112.0	104.0	107.0					7																	111634279		1805	4066	5871	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111634279C>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.226G>C	7.37:g.111634279C>G	ENSP00000404179:p.Glu76Gln					DOCK4_uc003vfy.2_Missense_Mutation_p.E76Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.E76Q|DOCK4_uc003vgb.1_5'UTR	p.E76Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			5	495	-		Acute lymphoblastic leukemia(1;0.0441)	76					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.226G>C	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.679045|4.679045	0.88542|0.88542	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.03689|.	3.84;3.84|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Src homology-3 domain (1);|.	0.101567|.	0.64402|.	D|.	0.000002|.	T|T	0.74627|0.74627	0.3741|0.3741	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	P;P;P|.	0.35612|.	0.512;0.512;0.512|.	B;B;B|.	0.43575|.	0.309;0.424;0.309|.	T|T	0.73344|0.73344	-0.4012|-0.4012	10|5	0.87932|.	D|.	0|.	.|.	16.9381|16.9381	0.86208|0.86208	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	76;76;76|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	Q|F	64;76;76;64;75|63	ENSP00000410746:E76Q;ENSP00000404179:E76Q|.	ENSP00000345432:E64Q|.	E|L	-|-	1|3	0|2	DOCK4|DOCK4	111421515|111421515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.407000|7.407000	0.80029|0.80029	2.682000|2.682000	0.91365|0.91365	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.308	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		23	89	0	0	0	0.014323	0	23	89		
C7orf60	154743	broad.mit.edu	37	7	112579712	112579712	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:112579712C>T	ENST00000297145.4	-	1	259	c.94G>A	c.(94-96)Gag>Aag	p.E32K	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	32							rRNA (adenine) methyltransferase activity (GO:0016433)	p.E32K(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTCTCCTGCTCCAGTTTCCGC	0.667																																						uc003vgo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(94-96)GAG>AAG		hypothetical protein LOC154743							36.0	39.0	38.0					7																	112579712		1931	4125	6056	SO:0001583	missense	154743							g.chr7:112579712C>T		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.94G>A	7.37:g.112579712C>T	ENSP00000297145:p.Glu32Lys					C7orf60_uc011kms.1_Missense_Mutation_p.E32K	p.E32K	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			1	221	-			32					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.94G>A	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093156	0.76756	.	.	ENSG00000164603	ENST00000297145	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.60455	1.87	0.45541	D	0.998496	B	0.25105	0.118	B	0.23018	0.043	T	0.60089	-0.7331	9	0.72032	D	0.01	-2.4597	11.6286	0.51160	0.0:0.821:0.179:0.0	.	32	Q1RMZ1	CG060_HUMAN	K	32	.	ENSP00000297145:E32K	E	-	1	0	C7orf60	112366948	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.766000	0.47629	2.634000	0.89283	0.456000	0.33151	GAG		0.667	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1		NM_152556		7	28	0	0	0	0.001984	0	7	28		
CTTNBP2	83992	broad.mit.edu	37	7	117400556	117400556	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:117400556C>T	ENST00000160373.3	-	10	3196	c.3105G>A	c.(3103-3105)gtG>gtA	p.V1035V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1035					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.V1035V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TATTGCAAGTCACGTCTTCCA	0.453																																						uc003vjf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(3103-3105)GTG>GTA		cortactin binding protein 2							171.0	151.0	158.0					7																	117400556		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117400556C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3105G>A	7.37:g.117400556C>T							p.V1035V	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	3197	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1035					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.3105G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.259490	0.01445	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.65719	0.2718	.	.	.	0.45930	D	0.998766	.	.	.	.	.	.	T	0.62243	-0.6895	4	.	.	.	-0.7745	13.4506	0.61169	0.0:0.9284:0.0:0.0716	.	.	.	.	N	523	.	.	D	-	1	0	CTTNBP2	117187792	0.998000	0.40836	0.023000	0.16930	0.045000	0.14185	3.326000	0.52037	2.857000	0.98124	0.650000	0.86243	GAC		0.453	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		29	180	0	0	0	0.008361	0	29	180		
ING3	54556	broad.mit.edu	37	7	120614801	120614801	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:120614801A>C	ENST00000315870.5	+	12	1308	c.1160A>C	c.(1159-1161)cAt>cCt	p.H387P	ING3_ENST00000431467.1_Missense_Mutation_p.H372P	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	387					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.H387P(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GAATGGTTCCATTATGGCTGC	0.413																																						uc003vjn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1159-1161)CAT>CCT		inhibitor of growth family, member 3 isoform 1							134.0	122.0	126.0					7																	120614801		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120614801A>C	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.1160A>C	7.37:g.120614801A>C	ENSP00000320566:p.His387Pro					ING3_uc003vjo.2_Missense_Mutation_p.H161P|ING3_uc003vjp.2_3'UTR|ING3_uc011kns.1_Missense_Mutation_p.H372P	p.H387P	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			12	1294	+	all_neural(327;0.117)		387			PHD-type.		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.1160A>C	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140499	0.56936	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	D;D	0.99005	-5.32;-5.32	5.83	4.68	0.58851	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.99764	4.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.97424	1.0011	10	0.87932	D	0	-19.4123	11.8799	0.52568	0.932:0.0:0.068:0.0	.	387	Q9NXR8	ING3_HUMAN	P	387;372	ENSP00000320566:H387P;ENSP00000388506:H372P	ENSP00000320566:H387P	H	+	2	0	ING3	120402037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.282000	0.95840	1.031000	0.39867	0.528000	0.53228	CAT		0.413	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2		NM_019071		6	53	0	0	0	0.00308	0	6	53		
PTPRZ1	5803	broad.mit.edu	37	7	121701184	121701184	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:121701184G>T	ENST00000393386.2	+	30	7269	c.6858G>T	c.(6856-6858)agG>agT	p.R2286S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1419S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2286					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R2286S(1)|p.Q2286H(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAGCACAAGGCAGGAAGAGA	0.443																																						uc003vjy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(6856-6858)AGG>AGT		protein tyrosine phosphatase, receptor-type,							87.0	83.0	84.0					7																	121701184		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121701184G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6858G>T	7.37:g.121701184G>T	ENSP00000377047:p.Arg2286Ser					PTPRZ1_uc003vjz.2_Missense_Mutation_p.R1419S|PTPRZ1_uc011knt.1_Missense_Mutation_p.R876S	p.R2286S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			30	7253	+			2286			Cytoplasmic (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6858G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842139	0.51057	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.45668	0.89;0.98	5.86	4.08	0.47627	.	0.000000	0.64402	D	0.000001	T	0.52289	0.1725	L	0.51422	1.61	0.37503	D	0.916844	B;B;D	0.61697	0.241;0.274;0.99	B;B;P	0.59115	0.085;0.153;0.852	T	0.59762	-0.7393	10	0.87932	D	0	.	11.7457	0.51819	0.1879:0.0:0.8121:0.0	.	1425;1419;2286	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	S	2286;1419	ENSP00000377047:R2286S;ENSP00000410000:R1419S	ENSP00000377047:R2286S	R	+	3	2	PTPRZ1	121488420	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	1.893000	0.39758	0.842000	0.35045	-0.471000	0.05019	AGG		0.443	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		41	50	1	0	8.16277e-20	0.006999	8.5714e-20	41	50		
NDUFA5	4698	broad.mit.edu	37	7	123197496	123197496	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:123197496C>T	ENST00000355749.2	-	2	487	c.28G>A	c.(28-30)Ggc>Agc	p.G10S	NDUFA5_ENST00000471770.1_Missense_Mutation_p.G10S|NDUFA5_ENST00000467117.1_5'UTR	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	10					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G10S(1)		large_intestine(1)|urinary_tract(1)	2						CCCACAAGGCCAGTGGTCTGT	0.438																																						uc003vks.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(28-30)GGC>AGC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						117.0	88.0	98.0					7																	123197496		2203	4300	6503	SO:0001583	missense	4698				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123197496C>T		CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.28G>A	7.37:g.123197496C>T	ENSP00000347988:p.Gly10Ser					NDUFA5_uc003vkr.2_RNA|NDUFA5_uc003vkt.1_Missense_Mutation_p.G10S	p.G10S	NM_005000	NP_004991	Q16718	NDUA5_HUMAN			2	137	-			10					B2RD98|Q5H9R2|Q6IRX7	Missense_Mutation	SNP	ENST00000355749.2	37	c.28G>A	CCDS5788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.624029|5.624029	0.96660|0.96660	.|.	.|.	ENSG00000128609|ENSG00000128609	ENST00000471770;ENST00000355749;ENST00000470123;ENST00000340034|ENST00000378795	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|.	.|.	.|.	.|.	D|.	0.87374|.	0.6161|.	H|H	0.94847|0.94847	3.59|3.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.911|.	D|.	0.90497|.	0.4471|.	8|.	0.87932|.	D|.	0|.	.|.	18.4182|18.4182	0.90577|0.90577	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	10;10|.	E7ENS4;Q16718|.	.;NDUA5_HUMAN|.	S|X	10;10;20;10|5	.|.	ENSP00000341719:G10S|.	G|W	-|-	1|2	0|0	NDUFA5|NDUFA5	122984732|122984732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.896000|4.896000	0.63222|0.63222	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.438	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1		NM_005000		12	44	0	0	0	0.010729	0	12	44		
SND1	27044	broad.mit.edu	37	7	127344995	127344995	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:127344995G>C	ENST00000354725.3	+	8	1137	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	315	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.E315Q(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAGGGCGGCAGAGAGGTAAGG	0.532																																						uc003vmi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(943-945)GAG>CAG		staphylococcal nuclease domain containing 1							73.0	64.0	67.0					7																	127344995		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127344995G>C		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.943G>C	7.37:g.127344995G>C	ENSP00000346762:p.Glu315Gln						p.E315Q	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			8	1169	+			315			TNase-like 2.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.943G>C	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986744	0.93106	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.38560	1.13	5.92	5.92	0.95590	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.320888	0.35870	N	0.002921	T	0.62048	0.2396	L	0.60455	1.87	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	T	0.60100	-0.7329	10	0.56958	D	0.05	-29.216	17.8282	0.88672	0.0:0.0:1.0:0.0	.	315	Q7KZF4	SND1_HUMAN	Q	315;305	ENSP00000346762:E315Q	ENSP00000346762:E315Q	E	+	1	0	SND1	127132231	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.550000	0.98110	2.822000	0.97130	0.650000	0.86243	GAG		0.532	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390		4	35	0	0	0	0.009096	0	4	35		
ZC3HC1	51530	broad.mit.edu	37	7	129691140	129691140	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:129691140G>A	ENST00000358303.4	-	1	151	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R23C|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R23C|ZC3HC1_ENST00000311873.5_5'UTR	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	23					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R23C(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCTGGGGAGCGAACTACTGCA	0.597																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(67-69)CGC>TGC		zinc finger, C3HC type 1							59.0	63.0	62.0					7																	129691140		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129691140G>A	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.67C>T	7.37:g.129691140G>A	ENSP00000351052:p.Arg23Cys						p.R23C	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			1	94	-	Melanoma(18;0.0435)		23					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.67C>T	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734780	0.69189	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000481503;ENST00000480193	T;T;T	0.53206	1.24;0.66;0.63	5.2	5.2	0.72013	.	0.058739	0.64402	D	0.000006	T	0.55497	0.1924	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.58549	-0.7617	10	0.72032	D	0.01	-15.6711	15.5728	0.76354	0.0:0.0:1.0:0.0	.	23	Q86WB0	NIPA_HUMAN	C	23	ENSP00000351052:R23C;ENSP00000353933:R23C;ENSP00000418533:R23C	ENSP00000351052:R23C	R	-	1	0	ZC3HC1	129478376	1.000000	0.71417	0.996000	0.52242	0.896000	0.52359	4.104000	0.57790	2.715000	0.92844	0.561000	0.74099	CGC		0.597	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478		12	69	0	0	0	0.010729	0	12	69		
DGKI	9162	broad.mit.edu	37	7	137075986	137075986	+	Missense_Mutation	SNP	C	C	A	rs200253634		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:137075986C>A	ENST00000288490.5	-	34	3178	c.3178G>T	c.(3178-3180)Gac>Tac	p.D1060Y	DGKI_ENST00000453654.2_Missense_Mutation_p.D729Y|DGKI_ENST00000446122.1_Missense_Mutation_p.D1042Y|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.D1073Y	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1060					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.D1060Y(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GTTTCCAGGTCCTCATGGCCA	0.527																																						uc003vtt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|kidney(1)|skin(1)	3						c.(3178-3180)GAC>TAC		diacylglycerol kinase, iota							142.0	125.0	130.0					7																	137075986		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137075986C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3178G>T	7.37:g.137075986C>A	ENSP00000288490:p.Asp1060Tyr					DGKI_uc003vtu.2_Missense_Mutation_p.D729Y	p.D1060Y	NM_004717	NP_004708	O75912	DGKI_HUMAN			34	3179	-			1060					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.3178G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416573	0.83449	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.41065	1.6;1.01;1.2	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	T	0.60672	-0.7217	10	0.87932	D	0	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	729;1060	E9PFX6;O75912	.;DGKI_HUMAN	Y	729;977;1063;1060;1042	ENSP00000392161:D729Y;ENSP00000288490:D1060Y;ENSP00000399131:D1042Y	ENSP00000288490:D1060Y	D	-	1	0	DGKI	136726526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.759000	0.68785	2.822000	0.97130	0.650000	0.86243	GAC		0.527	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3		NM_004717		26	115	1	0	2.12542e-12	0.00632	2.21335e-12	26	115		
EPHA1	2041	broad.mit.edu	37	7	143095738	143095738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:143095738G>A	ENST00000275815.3	-	6	1378	c.1292C>T	c.(1291-1293)tCt>tTt	p.S431F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	431	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.S431F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGCATGGCCAGAGCTGCCCAG	0.572																																						uc003wcz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(1)|breast(1)	5						c.(1291-1293)TCT>TTT		ephrin receptor EphA1 precursor							75.0	67.0	69.0					7																	143095738		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095738G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1292C>T	7.37:g.143095738G>A	ENSP00000275815:p.Ser431Phe						p.S431F	NM_005232	NP_005223	P21709	EPHA1_HUMAN			6	1379	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	431			Extracellular (Potential).|Fibronectin type-III 1.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1292C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	5.639	0.302484	0.10678	.	.	ENSG00000146904	ENST00000275815	T	0.54279	0.58	4.79	4.79	0.61399	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.102962	0.44097	D	0.000499	T	0.47967	0.1474	L	0.28014	0.82	0.09310	N	1	D	0.59357	0.985	P	0.50708	0.648	T	0.41698	-0.9494	10	0.42905	T	0.14	.	12.7954	0.57556	0.0787:0.0:0.9213:0.0	.	431	P21709	EPHA1_HUMAN	F	431	ENSP00000275815:S431F	ENSP00000275815:S431F	S	-	2	0	EPHA1	142805860	0.137000	0.22531	0.028000	0.17463	0.244000	0.25665	2.756000	0.47549	2.633000	0.89246	0.655000	0.94253	TCT		0.572	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1				10	60	0	0	0	0.006214	0	10	60		
CUL1	8454	broad.mit.edu	37	7	148427336	148427336	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:148427336G>A	ENST00000325222.4	+	2	401	c.122G>A	c.(121-123)aGa>aAa	p.R41K	AC005229.1_ENST00000578165.1_RNA|CUL1_ENST00000602748.1_Missense_Mutation_p.R41K|CUL1_ENST00000409469.1_Missense_Mutation_p.R41K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.R41K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCAAGTCCAGATATATGGAG	0.478																																						uc010lpg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(121-123)AGA>AAA		cullin 1							94.0	79.0	84.0					7																	148427336		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427336G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.122G>A	7.37:g.148427336G>A	ENSP00000326804:p.Arg41Lys					CUL1_uc003wey.2_Missense_Mutation_p.R41K|CUL1_uc003wez.2_5'UTR	p.R41K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	648	+	Melanoma(164;0.15)		41					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.122G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055547	0.75960	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.72942	-0.7;-0.7	5.6	5.6	0.85130	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	L	0.52011	1.625	0.80722	D	1	P	0.36768	0.569	B	0.40444	0.329	T	0.63559	-0.6610	10	0.10111	T	0.7	-33.2551	19.6138	0.95622	0.0:0.0:1.0:0.0	.	41	Q13616	CUL1_HUMAN	K	41	ENSP00000387160:R41K;ENSP00000326804:R41K	ENSP00000326804:R41K	R	+	2	0	CUL1	148058269	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.507000	0.97996	2.640000	0.89533	0.591000	0.81541	AGA		0.478	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		14	89	0	0	0	0.00245	0	14	89		
GIMAP8	155038	broad.mit.edu	37	7	150164398	150164398	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr7:150164398C>T	ENST00000307271.3	+	2	1186	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	204	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.F204F(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGTGAACTTCAAAACTGAAG	0.408																																						uc003whj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(610-612)TTC>TTT		GTPase, IMAP family member 8							74.0	69.0	71.0					7																	150164398		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164398C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.612C>T	7.37:g.150164398C>T							p.F204F	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	942	+			204						Silent	SNP	ENST00000307271.3	37	c.612C>T	CCDS34777.1																																																																																				0.408	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1		NM_175571		20	97	0	0	0	0.008871	0	20	97		
CLN8	2055	broad.mit.edu	37	8	1728467	1728467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:1728467C>T	ENST00000331222.4	+	3	842	c.595C>T	c.(595-597)Cac>Tac	p.H199Y	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	199	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.H199Y(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCTGATGATTCACATGTTTCA	0.517																																					Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(595-597)CAC>TAC		ceroid-lipofuscinosis, neuronal 8							206.0	139.0	162.0					8																	1728467		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728467C>T	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.595C>T	8.37:g.1728467C>T	ENSP00000328182:p.His199Tyr						p.H199Y	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	900	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	199			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.595C>T	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081452	0.94050	.	.	ENSG00000182372	ENST00000331222	D	0.84800	-1.9	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.167933	0.38381	U	0.001712	D	0.90957	0.7157	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87521	0.2446	10	0.02654	T	1	-12.2883	18.6661	0.91491	0.0:1.0:0.0:0.0	.	199	Q9UBY8	CLN8_HUMAN	Y	199	ENSP00000328182:H199Y	ENSP00000328182:H199Y	H	+	1	0	CLN8	1715874	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.178000	0.77657	2.400000	0.81607	0.650000	0.86243	CAC		0.517	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2		NM_018941		11	72	0	0	0	0.013537	0	11	72		
ARHGEF10	9639	broad.mit.edu	37	8	1876813	1876813	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:1876813G>A	ENST00000398564.1	+	24	2993	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G969E|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.G997E|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G973E|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G935E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	998					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G998E(1)|p.G750E(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACGGAGGAGGGAAGGTAGGGC	0.617																																						uc003wpr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)	1						c.(2917-2919)GGA>GAA		Rho guanine nucleotide exchange factor 10							38.0	35.0	36.0					8																	1876813		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1876813G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2993G>A	8.37:g.1876813G>A	ENSP00000381571:p.Gly998Glu					ARHGEF10_uc003wps.2_Missense_Mutation_p.G935E|ARHGEF10_uc010lre.2_Missense_Mutation_p.G624E	p.G973E	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	24	3096	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	998					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.2918G>A		.	.	.	.	.	.	.	.	.	.	G	27.6	4.848512	0.91277	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.76;-0.76	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90621	0.4559	10	0.72032	D	0.01	-39.2866	19.1739	0.93594	0.0:0.0:1.0:0.0	.	935;973	O15013-7;O15013-5	.;.	E	973;935;997;998;969;617	ENSP00000340297:G973E;ENSP00000427909:G935E;ENSP00000431012:G997E;ENSP00000381571:G998E;ENSP00000262112:G969E;ENSP00000427768:G617E	ENSP00000262112:G969E	G	+	2	0	ARHGEF10	1864220	1.000000	0.71417	0.829000	0.32907	0.796000	0.44982	9.014000	0.93635	2.521000	0.84997	0.561000	0.74099	GGA		0.617	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding					5	37	0	0	0	0.001984	0	5	37		
DLC1	10395	broad.mit.edu	37	8	12947971	12947971	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:12947971C>T	ENST00000276297.4	-	15	4273	c.3864G>A	c.(3862-3864)gaG>gaA	p.E1288E	DLC1_ENST00000512044.2_Silent_p.E885E|DLC1_ENST00000358919.2_Silent_p.E851E|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.E777E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1288					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E1288E(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCTCATTTCCTCGGGAACCT	0.517																																						uc003wwm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3862-3864)GAG>GAA		deleted in liver cancer 1 isoform 1							80.0	70.0	73.0					8																	12947971		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12947971C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3864G>A	8.37:g.12947971C>T						DLC1_uc003wwk.1_Silent_p.E851E|DLC1_uc003wwl.1_Silent_p.E885E|DLC1_uc011kxx.1_Silent_p.E777E	p.E1288E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			15	4308	-			1288					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.3864G>A	CCDS5989.1																																																																																				0.517	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		12	47	0	0	0	0.013537	0	12	47		
PSD3	23362	broad.mit.edu	37	8	18729854	18729854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:18729854C>T	ENST00000327040.8	-	3	622	c.520G>A	c.(520-522)Gac>Aac	p.D174N	PSD3_ENST00000440756.2_Missense_Mutation_p.D174N|PSD3_ENST00000523619.1_Missense_Mutation_p.D109N	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	174					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D174N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGGCAGTGTCCAGCTCTTTT	0.443																																						uc003wza.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(520-522)GAC>AAC		ADP-ribosylation factor guanine nucleotide							86.0	84.0	85.0					8																	18729854		1879	4098	5977	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729854C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.520G>A	8.37:g.18729854C>T	ENSP00000324127:p.Asp174Asn						p.D174N	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	623	-			174					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.520G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812536	0.32053	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.28454	1.61;1.61;1.61	6.06	3.94	0.45596	.	1.309720	0.04861	N	0.444207	T	0.22475	0.0542	L	0.27053	0.805	0.09310	N	1	B	0.32245	0.361	B	0.21708	0.036	T	0.14504	-1.0470	10	0.22109	T	0.4	.	10.853	0.46782	0.0:0.8179:0.0:0.1821	.	174	E9KL50	.	N	174;174;109	ENSP00000324127:D174N;ENSP00000401704:D174N;ENSP00000430640:D109N	ENSP00000324127:D174N	D	-	1	0	PSD3	18774134	0.000000	0.05858	0.004000	0.12327	0.768000	0.43524	0.229000	0.17833	1.547000	0.49401	0.655000	0.94253	GAC		0.443	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310		21	118	0	0	0	0.009535	0	21	118		
CSGALNACT1	55790	broad.mit.edu	37	8	19316071	19316071	+	Silent	SNP	G	G	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:19316071G>T	ENST00000454498.2	-	5	1730	c.717C>A	c.(715-717)ctC>ctA	p.L239L	CSGALNACT1_ENST00000311540.4_Silent_p.L239L|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Silent_p.L239L|CSGALNACT1_ENST00000332246.6_Silent_p.L239L|CSGALNACT1_ENST00000522854.1_Silent_p.L239L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	239					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.L239L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433																																						uc011kyn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(715-717)CTC>CTA		chondroitin sulfate							305.0	280.0	288.0					8																	19316071		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316071G>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.717C>A	8.37:g.19316071G>T						CSGALNACT1_uc011kyo.1_Silent_p.L239L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.L238L|CSGALNACT1_uc003wzh.2_RNA	p.L239L	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1781	-			239			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.717C>A	CCDS6010.1																																																																																				0.433	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		NM_018371		61	200	1	0	1.87469e-40	0.01441	1.99469e-40	61	200		
REEP4	80346	broad.mit.edu	37	8	21997685	21997685	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:21997685C>T	ENST00000306306.3	-	3	650	c.182G>A	c.(181-183)tGg>tAg	p.W61*	REEP4_ENST00000523293.1_Splice_Site_p.W61*|REEP4_ENST00000334530.5_Splice_Site_p.W61*	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	61					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)	p.W61*(1)		kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GCGTCCATACCAGGAGATAAA	0.577																																						uc003xau.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(181-183)TGG>TAG		receptor accessory protein 4							59.0	52.0	55.0					8																	21997685		2203	4300	6503	SO:0001630	splice_region_variant	80346					integral to membrane		g.chr8:21997685C>T	BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.182+1G>A	8.37:g.21997685C>T						REEP4_uc010ltt.1_Nonsense_Mutation_p.W61*|REEP4_uc011kyz.1_Nonsense_Mutation_p.W61*	p.W61*	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN		Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)	3	635	-			61			Helical; (Potential).		D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Nonsense_Mutation	SNP	ENST00000306306.3	37	c.182G>A	CCDS6024.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516282	0.97629	.	.	ENSG00000168476	ENST00000334530;ENST00000306306;ENST00000523293;ENST00000518664	.	.	.	4.11	4.11	0.48088	.	0.118711	0.38217	N	0.001779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.6109	13.8707	0.63617	0.0:1.0:0.0:0.0	.	.	.	.	X	61	.	.	W	-	2	0	REEP4	22053630	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	7.365000	0.79537	2.115000	0.64714	0.561000	0.74099	TGG		0.577	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254337.2		NM_025232	Nonsense_Mutation	4	15	0	0	0	0.000602	0	4	15		
EGR3	1960	broad.mit.edu	37	8	22548114	22548114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:22548114C>G	ENST00000317216.2	-	2	1393	c.1036G>C	c.(1036-1038)Gac>Cac	p.D346H	EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.D308H	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	346					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D346H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TTGCGCTCGTCGCTGCGCGCA	0.647																																						uc003xcm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1036-1038)GAC>CAC		early growth response 3							58.0	50.0	53.0					8																	22548114		2200	4297	6497	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548114C>G	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.1036G>C	8.37:g.22548114C>G	ENSP00000318057:p.Asp346His					EGR3_uc011kzn.1_Missense_Mutation_p.D308H|EGR3_uc011kzo.1_Missense_Mutation_p.D292H	p.D346H	NM_004430	NP_004421	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	1394	-		Prostate(55;0.0421)|Breast(100;0.102)	346			C2H2-type 3.		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.1036G>C	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987110	0.74589	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.07567	3.18;3.18	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110869	0.64402	D	0.000016	T	0.20981	0.0505	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00357	-1.1792	10	0.87932	D	0	-22.4575	17.155	0.86788	0.0:1.0:0.0:0.0	.	308;346	E7EW38;Q06889	.;EGR3_HUMAN	H	346;308;187	ENSP00000318057:D346H;ENSP00000430310:D308H	ENSP00000318057:D346H	D	-	1	0	EGR3	22604059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.813000	0.86123	2.643000	0.89663	0.655000	0.94253	GAC		0.647	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1		NM_004430		11	39	0	0	0	0.003163	0	11	39		
GTF2E2	2961	broad.mit.edu	37	8	30472223	30472223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:30472223G>A	ENST00000355904.4	-	4	550	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	90					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q90*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TCTCCTCGCTGATGCCGTGTC	0.358																																						uc003xig.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(268-270)CAG>TAG		general transcription factor IIE, polypeptide 2,							147.0	128.0	134.0					8																	30472223		2203	4300	6503	SO:0001587	stop_gained	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30472223G>A	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.268C>T	8.37:g.30472223G>A	ENSP00000348168:p.Gln90*						p.Q90*	NM_002095	NP_002086	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	4	521	-			90			TFIIE beta.		D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	ENST00000355904.4	37	c.268C>T	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.943559	0.92593	.	.	ENSG00000197265	ENST00000355904;ENST00000518599;ENST00000518445	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8633	17.5264	0.87801	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000348168:Q90X	Q	-	1	0	GTF2E2	30591765	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.788000	0.99064	2.732000	0.93576	0.557000	0.71058	CAG		0.358	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2		NM_002095		21	73	0	0	0	0.010504	0	21	73		
DDHD2	23259	broad.mit.edu	37	8	38090714	38090714	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:38090714G>A	ENST00000397166.2	+	2	727	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	DDHD2_ENST00000520272.2_Missense_Mutation_p.E68K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	68	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E68K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACAGCAGCTGGAAGAGGCATA	0.388																																						uc003xlb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(202-204)GAA>AAA		DDHD domain containing 2 isoform 1							67.0	66.0	66.0					8																	38090714		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38090714G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.202G>A	8.37:g.38090714G>A	ENSP00000380352:p.Glu68Lys					DDHD2_uc003xla.2_Missense_Mutation_p.E68K|DDHD2_uc003xlc.2_Missense_Mutation_p.E68K|DDHD2_uc011lbl.1_5'UTR	p.E68K	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		2	579	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	68			WWE.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.202G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469226	0.84533	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000533100;ENST00000528358;ENST00000532222;ENST00000520272	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	5.86	5.86	0.93980	WWE domain (2);	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86973	0.2099	10	0.87932	D	0	-23.6785	18.741	0.91773	0.0:0.0:1.0:0.0	.	68;68	O94830;E9PKE6	DDHD2_HUMAN;.	K	68	ENSP00000432433:E68K;ENSP00000380352:E68K;ENSP00000432678:E68K;ENSP00000433118:E68K;ENSP00000433578:E68K;ENSP00000429932:E68K	ENSP00000380352:E68K	E	+	1	0	DDHD2	38209871	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	8.254000	0.89844	2.778000	0.95560	0.655000	0.94253	GAA		0.388	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2		XM_291291		18	76	0	0	0	0.006122	0	18	76		
MCM4	4173	broad.mit.edu	37	8	48888324	48888324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:48888324G>C	ENST00000262105.2	+	15	2624	c.2415G>C	c.(2413-2415)ttG>ttC	p.L805F	MCM4_ENST00000523944.1_Missense_Mutation_p.L805F	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	805					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.L805F(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGAAGCATTGAAAAAGCTTA	0.328																																						uc003xqk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(2413-2415)TTG>TTC		minichromosome maintenance complex component 4							71.0	71.0	71.0					8																	48888324		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48888324G>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2415G>C	8.37:g.48888324G>C	ENSP00000262105:p.Leu805Phe					MCM4_uc003xql.1_Missense_Mutation_p.L805F|MCM4_uc011ldi.1_Missense_Mutation_p.L792F	p.L805F	NM_182746	NP_877423	P33991	MCM4_HUMAN			16	2510	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	805					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2415G>C	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335444	0.60853	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276;ENST00000521261	T;T	0.03524	3.9;3.9	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	M	0.76574	2.34	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.62382	0.901;0.901	T	0.00215	-1.1911	10	0.72032	D	0.01	-17.6134	10.3865	0.44143	0.2024:0.0:0.7976:0.0	.	805;805	B3KMX0;P33991	.;MCM4_HUMAN	F	805;805;792;765;80;89;89	ENSP00000430194:L805F;ENSP00000262105:L805F	ENSP00000262105:L805F	L	+	3	2	MCM4	49050877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.079000	0.64431	1.569000	0.49696	0.557000	0.71058	TTG		0.328	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1		NM_005914		13	58	0	0	0	0.013537	0	13	58		
CHD7	55636	broad.mit.edu	37	8	61748694	61748694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:61748694C>T	ENST00000423902.2	+	16	4320	c.3841C>T	c.(3841-3843)Cag>Tag	p.Q1281*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1281					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q1281*(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCAGATTTTCAGCTCCAGGC	0.458																																						uc003xue.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(3841-3843)CAG>TAG		chromodomain helicase DNA binding protein 7							44.0	43.0	43.0					8																	61748694		1964	4166	6130	SO:0001587	stop_gained	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61748694C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3841C>T	8.37:g.61748694C>T	ENSP00000392028:p.Gln1281*						p.Q1281*	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		16	4318	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1281					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	c.3841C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	46	12.808764	0.99698	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	.	.	.	5.8	5.8	0.92144	.	0.174403	0.42294	D	0.000730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.035	20.063	0.97692	0.0:1.0:0.0:0.0	.	.	.	.	X	1281	.	ENSP00000307304:Q1281X	Q	+	1	0	CHD7	61911248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.101000	0.57769	2.735000	0.93741	0.655000	0.94253	CAG		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		14	13	0	0	0	0.001855	0	14	13		
ZFHX4	79776	broad.mit.edu	37	8	77618332	77618332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:77618332C>T	ENST00000521891.2	+	2	2457	c.2009C>T	c.(2008-2010)cCg>cTg	p.P670L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P670L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P670L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P670L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P670L(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCCTGAGCCGGGTGGCTCT	0.507										HNSCC(33;0.089)																												uc003yav.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2008-2010)CCG>CTG		zinc finger homeodomain 4							50.0	54.0	53.0					8																	77618332		1963	4175	6138	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618332C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2009C>T	8.37:g.77618332C>T	ENSP00000430497:p.Pro670Leu	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.P670L|ZFHX4_uc003yau.1_Missense_Mutation_p.P670L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P670L	p.P670L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2396	+			670					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2009C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130497	0.56828	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49139	0.79;0.83;0.8;0.8	5.3	5.3	0.74995	.	0.000000	0.44285	U	0.000474	T	0.52693	0.1750	L	0.39898	1.24	0.80722	D	1	D;D;D;P	0.63046	0.987;0.992;0.992;0.485	P;P;P;B	0.51170	0.46;0.661;0.661;0.14	T	0.55147	-0.8186	10	0.66056	D	0.02	.	19.15	0.93483	0.0:1.0:0.0:0.0	.	670;670;670;670	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	670	ENSP00000430497:P670L;ENSP00000399605:P670L;ENSP00000050961:P670L;ENSP00000430848:P670L	ENSP00000050961:P670L	P	+	2	0	ZFHX4	77780887	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	7.651000	0.83577	2.750000	0.94351	0.655000	0.94253	CCG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		5	39	0	0	0	0.001168	0	5	39		
MMP16	4325	broad.mit.edu	37	8	89179976	89179976	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:89179976A>G	ENST00000286614.6	-	4	912	c.631T>C	c.(631-633)Ttc>Ctc	p.F211L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	211					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F211L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGTCCAGGGAAGTAGGCATGT	0.438																																						uc003yeb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(631-633)TTC>CTC		matrix metalloproteinase 16 isoform 1							96.0	83.0	87.0					8																	89179976		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89179976A>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.631T>C	8.37:g.89179976A>G	ENSP00000286614:p.Phe211Leu					MMP16_uc003yec.2_Missense_Mutation_p.F211L	p.F211L	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	913	-			211			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.631T>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.035780	0.93630	.	.	ENSG00000156103	ENST00000286614	T	0.50277	0.75	5.5	4.31	0.51392	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.69523	2.12	0.80722	D	1	D;D	0.65815	0.995;0.984	D;P	0.63113	0.911;0.822	T	0.64651	-0.6357	10	0.56958	D	0.05	.	11.6622	0.51354	0.9294:0.0:0.0706:0.0	.	211;211	P51512-2;P51512	.;MMP16_HUMAN	L	211	ENSP00000286614:F211L	ENSP00000286614:F211L	F	-	1	0	MMP16	89249092	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	9.257000	0.95545	0.885000	0.36088	0.524000	0.50904	TTC		0.438	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2		NM_005941		19	102	0	0	0	0.008871	0	19	102		
NBN	4683	broad.mit.edu	37	8	90955531	90955531	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:90955531G>A	ENST00000265433.3	-	14	2288	c.2134C>T	c.(2134-2136)Cat>Tat	p.H712Y	NBN_ENST00000409330.1_Missense_Mutation_p.H630Y	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	712					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.H712Y(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTTCGAGCATGATGAGCTATT	0.393								Homologous recombination																														uc003yej.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)|kidney(3)|lung(1)	7						c.(2134-2136)CAT>TAT	Direct_reversal_of_damage|Homologous_recombination	nibrin							181.0	163.0	169.0					8																	90955531		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90955531G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2134C>T	8.37:g.90955531G>A	ENSP00000265433:p.His712Tyr					NBN_uc003yei.1_Missense_Mutation_p.H630Y|NBN_uc011lgb.1_Missense_Mutation_p.H712Y	p.H712Y	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2244	-			712					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.2134C>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889467	0.72524	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.59906	0.24;0.23	5.91	4.08	0.47627	DNA repair Nbs1, C-terminal (1);	0.203489	0.50627	D	0.000119	T	0.57315	0.2045	L	0.44542	1.39	0.27417	N	0.954409	D;D	0.62365	0.991;0.991	P;P	0.54815	0.761;0.761	T	0.53844	-0.8381	10	0.72032	D	0.01	-14.3929	5.9966	0.19497	0.0716:0.1282:0.6489:0.1513	.	712;712	A6H8Y5;O60934	.;NBN_HUMAN	Y	712;630	ENSP00000265433:H712Y;ENSP00000386924:H630Y	ENSP00000265433:H712Y	H	-	1	0	NBN	91024707	0.998000	0.40836	0.983000	0.44433	0.991000	0.79684	1.383000	0.34385	0.791000	0.33826	0.650000	0.86243	CAT		0.393	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		NM_001024688		114	87	0	0	0	0.01441	0	114	87		
ESRP1	54845	broad.mit.edu	37	8	95653664	95653664	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:95653664C>T	ENST00000433389.2	+	1	308	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	ESRP1_ENST00000423620.2_Silent_p.L40L|ESRP1_ENST00000358397.5_Silent_p.L40L|RP11-22C11.2_ENST00000562760.1_RNA|ESRP1_ENST00000454170.2_Silent_p.L40L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	40					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.L40L(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGTCGTGGATCTGGCCAACAA	0.527																																						uc003ygq.3		NaN																ESRP1/RAF1(4)	2	Substitution - coding silent(2)		urinary_tract(2)	prostate(4)	4						c.(118-120)CTG>TTG		RNA binding motif protein 35A isoform 1							94.0	95.0	94.0					8																	95653664		1932	4135	6067	SO:0001819	synonymous_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95653664C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.118C>T	8.37:g.95653664C>T						ESRP1_uc003ygr.3_Silent_p.L40L|ESRP1_uc003ygs.3_Silent_p.L40L|ESRP1_uc003ygt.3_Silent_p.L40L|ESRP1_uc003ygu.3_Silent_p.L40L	p.L40L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			1	301	+			40					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	c.118C>T	CCDS47897.1																																																																																				0.527	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1		NM_017697		46	37	0	0	0	0.01441	0	46	37		
TMEM74	157753	broad.mit.edu	37	8	109797208	109797208	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:109797208G>C	ENST00000297459.3	-	2	298	c.120C>G	c.(118-120)ctC>ctG	p.L40L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	40					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.L40L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCTGACAGCAGAGAGCAGCTC	0.542																																						uc003ymy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(118-120)CTC>CTG		transmembrane protein 74							81.0	81.0	81.0					8																	109797208		2203	4300	6503	SO:0001819	synonymous_variant	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109797208G>C	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.120C>G	8.37:g.109797208G>C						TMEM74_uc003ymx.2_Intron	p.L40L	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	225	-			40						Silent	SNP	ENST00000297459.3	37	c.120C>G	CCDS6310.1																																																																																				0.542	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1		NM_153015		18	121	0	0	0	0.007413	0	18	121		
ANXA13	312	broad.mit.edu	37	8	124693585	124693585	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:124693585C>T	ENST00000419625.1	-	11	918	c.846G>A	c.(844-846)ggG>ggA	p.G282G	ANXA13_ENST00000262219.6_Silent_p.G323G	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	282					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.G323G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCTTTGATCCCCTGAAGGT	0.453																																						uc003yqu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(844-846)GGG>GGA		annexin A13 isoform a							158.0	166.0	163.0					8																	124693585		2203	4300	6503	SO:0001819	synonymous_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693585C>T	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.846G>A	8.37:g.124693585C>T						ANXA13_uc003yqt.2_Silent_p.G323G	p.G282G	NM_004306	NP_004297	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		11	919	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		282			Annexin 4.		Q9BQR5	Silent	SNP	ENST00000419625.1	37	c.846G>A	CCDS47917.1																																																																																				0.453	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1		NM_004306		140	129	0	0	0	0.01441	0	140	129		
COL22A1	169044	broad.mit.edu	37	8	139629181	139629181	+	Silent	SNP	G	G	A	rs373967661		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:139629181G>A	ENST00000303045.6	-	54	4292	c.3846C>T	c.(3844-3846)ggC>ggT	p.G1282G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1262G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1282G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCAGAATCGCCTGTGTGTC	0.587										HNSCC(7;0.00092)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19342	0.001		0.0	False		,,,				2504	0.0					uc003yvd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3844-3846)GGC>GGT		collagen, type XXII, alpha 1							80.0	79.0	79.0					8																	139629181		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629181G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3846C>T	8.37:g.139629181G>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.G562G	p.G1282G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4293	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1282			Pro-rich.|Gly-rich.|Collagen-like 12.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3846C>T	CCDS6376.1																																																																																				0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		64	37	0	0	0	0.01441	0	64	37		
CPSF1	29894	broad.mit.edu	37	8	145622704	145622704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:145622704C>T	ENST00000349769.3	-	22	2477	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	795					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.E795K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCACCTACCTCCATGGTGCCA	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2383-2385)GAG>AAG		cleavage and polyadenylation specific factor 1,							25.0	29.0	28.0					8																	145622704		2203	4298	6501	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622704C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2383G>A	8.37:g.145622704C>T	ENSP00000339353:p.Glu795Lys						p.E795K	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		22	2458	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		795					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2383G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397092	0.96009	.	.	ENSG00000071894	ENST00000349769	T	0.53423	0.62	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.69358	2.11	0.80722	D	1	P	0.46512	0.879	P	0.52031	0.688	T	0.60469	-0.7257	10	0.45353	T	0.12	-34.043	15.9944	0.80230	0.0:1.0:0.0:0.0	.	795	Q10570	CPSF1_HUMAN	K	795	ENSP00000339353:E795K	ENSP00000339353:E795K	E	-	1	0	CPSF1	145593512	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.965000	0.76067	2.387000	0.81309	0.491000	0.48974	GAG		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291		12	9	0	0	0	0.010729	0	12	9		
ZNF7	7553	broad.mit.edu	37	8	146068042	146068042	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:146068042G>A	ENST00000528372.1	+	5	1790	c.1550G>A	c.(1549-1551)aGa>aAa	p.R517K	ZNF7_ENST00000446747.2_Missense_Mutation_p.R528K|ZNF7_ENST00000544249.1_Missense_Mutation_p.R421K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R517K|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	517					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R517K(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TACCATCAGAGAATCCATAAA	0.453																																						uc003zeg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(1549-1551)AGA>AAA		zinc finger protein 7							71.0	76.0	74.0					8																	146068042		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068042G>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1550G>A	8.37:g.146068042G>A	ENSP00000432724:p.Arg517Lys					ZNF7_uc010mge.2_Missense_Mutation_p.R528K|ZNF7_uc011lln.1_Missense_Mutation_p.R421K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.R421K|COMMD5_uc003zel.1_Intron	p.R517K	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	1687	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	517			C2H2-type 10.		B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.1550G>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220716	0.58560	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.61	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000091	T	0.12561	0.0305	N	0.26162	0.8	0.80722	D	1	B;B	0.31153	0.081;0.31	B;B	0.34652	0.155;0.187	T	0.12837	-1.0532	9	.	.	.	-27.3916	10.3603	0.43989	0.0923:0.0:0.9077:0.0	.	528;517	B4DT08;P17097	.;ZNF7_HUMAN	K	517;528;421;517	ENSP00000320627:R517K;ENSP00000393260:R528K;ENSP00000439424:R421K;ENSP00000432724:R517K	.	R	+	2	0	ZNF7	146038846	0.013000	0.17824	0.969000	0.41365	0.991000	0.79684	1.675000	0.37555	2.565000	0.86533	0.655000	0.94253	AGA		0.453	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1		NM_003416		14	102	0	0	0	0.001855	0	14	102		
C8orf33	65265	broad.mit.edu	37	8	146279413	146279413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr8:146279413C>G	ENST00000331434.6	+	5	674	c.560C>G	c.(559-561)tCa>tGa	p.S187*		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	187								p.S187*(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GCTGCTTATTCAGCCCAGGTG	0.478																																						uc003zfc.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(559-561)TCA>TGA		hypothetical protein LOC65265							170.0	183.0	179.0					8																	146279413		2203	4300	6503	SO:0001587	stop_gained	65265							g.chr8:146279413C>G		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.560C>G	8.37:g.146279413C>G	ENSP00000330361:p.Ser187*					C8orf33_uc003zfd.2_RNA	p.S187*	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	5	614	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		187					A6NGC0|Q96BT8	Nonsense_Mutation	SNP	ENST00000331434.6	37	c.560C>G	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	14.98	2.696880	0.48202	.	.	ENSG00000182307	ENST00000331434	.	.	.	3.16	1.33	0.21861	.	0.305252	0.31507	N	0.007535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2801	5.5553	0.17113	0.0:0.7364:0.0:0.2636	.	.	.	.	X	187	.	.	S	+	2	0	C8orf33	146250217	0.003000	0.15002	0.007000	0.13788	0.061000	0.15899	-0.138000	0.10374	0.372000	0.24591	-0.122000	0.15005	TCA		0.478	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1		NM_023080		160	148	0	0	0	0.01441	0	160	148		
DOCK8	81704	broad.mit.edu	37	9	422091	422091	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:422091G>A	ENST00000453981.1	+	33	4309	c.4197G>A	c.(4195-4197)aaG>aaA	p.K1399K	DOCK8_ENST00000382329.1_Silent_p.K866K|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000432829.2_Silent_p.K1331K|DOCK8_ENST00000469391.1_Silent_p.K1299K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1399					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K1399K(1)|p.K1331K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAGATGGAAGAAAGAGCAGA	0.398																																						uc003zgf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)	6						c.(4195-4197)AAG>AAA		dedicator of cytokinesis 8							89.0	87.0	88.0					9																	422091		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:422091G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4197G>A	9.37:g.422091G>A						DOCK8_uc010mgu.2_Silent_p.K701K|DOCK8_uc010mgv.2_Silent_p.K1299K|DOCK8_uc003zgk.2_Silent_p.K857K	p.K1399K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	33	4309	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1399			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.4197G>A	CCDS6440.2																																																																																				0.398	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		17	24	0	0	0	0.012319	0	17	24		
DOCK8	81704	broad.mit.edu	37	9	429848	429848	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:429848C>T	ENST00000453981.1	+	36	4732	c.4620C>T	c.(4618-4620)gcC>gcT	p.A1540A	DOCK8_ENST00000382329.1_Silent_p.A1007A|DOCK8_ENST00000432829.2_Silent_p.A1472A|DOCK8_ENST00000469391.1_Silent_p.A1440A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1540					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A1472A(1)|p.A1540A(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTTTGGAGCCACCAGTGTAA	0.468																																						uc003zgf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)	6						c.(4618-4620)GCC>GCT		dedicator of cytokinesis 8							75.0	61.0	66.0					9																	429848		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:429848C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4620C>T	9.37:g.429848C>T						DOCK8_uc010mgu.2_Silent_p.A842A|DOCK8_uc010mgv.2_Silent_p.A1440A|DOCK8_uc003zgk.2_Silent_p.A998A	p.A1540A	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	36	4732	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1540			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.4620C>T	CCDS6440.2																																																																																				0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		18	27	0	0	0	0.00499	0	18	27		
RFK	55312	broad.mit.edu	37	9	79002362	79002362	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:79002362C>T	ENST00000376736.1	-	4	754	c.421G>A	c.(421-423)Gac>Aac	p.D141N	RFK_ENST00000479197.1_5'Flank	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	141					apoptotic process (GO:0006915)|FMN biosynthetic process (GO:0009398)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|reactive oxygen species metabolic process (GO:0072593)|riboflavin biosynthetic process (GO:0009231)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|riboflavin kinase activity (GO:0008531)	p.D148N(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	AAGAAATTGTCTTCTTTGATT	0.313																																						uc004akd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(442-444)GAC>AAC		riboflavin kinase	Riboflavin(DB00140)						119.0	124.0	123.0					9																	79002362		2201	4299	6500	SO:0001583	missense	55312				riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	g.chr9:79002362C>T	AK002011	CCDS35044.1, CCDS35044.2	9q21.31	2010-11-16			ENSG00000135002	ENSG00000135002			30324	protein-coding gene	gene with protein product		613010				14580199	Standard	NM_018339		Approved	FLJ11149, RIFK	uc004akd.2	Q969G6	OTTHUMG00000020040	ENST00000376736.1:c.421G>A	9.37:g.79002362C>T	ENSP00000365926:p.Asp141Asn					RFK_uc004ake.2_3'UTR	p.D148N	NM_018339	NP_060809	Q969G6	RIFK_HUMAN			4	778	-			141					Q5JSG9|Q9NUT7	Missense_Mutation	SNP	ENST00000376736.1	37	c.442G>A	CCDS35044.2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448939	0.43531	.	.	ENSG00000135002	ENST00000376736;ENST00000257452	.	.	.	4.68	1.61	0.23674	Riboflavin kinase domain (1);Riboflavin kinase domain, bacterial/eukaryotic (1);	0.088886	0.85682	D	0.000000	T	0.57475	0.2056	M	0.74881	2.28	0.53688	D	0.999974	B	0.09022	0.002	B	0.13407	0.009	T	0.58668	-0.7596	9	0.44086	T	0.13	-25.4025	8.7323	0.34507	0.0:0.512:0.4002:0.0878	.	141	Q969G6	RIFK_HUMAN	N	141;148	.	ENSP00000257452:D148N	D	-	1	0	RFK	78192182	0.989000	0.36119	1.000000	0.80357	0.871000	0.50021	1.368000	0.34216	1.108000	0.41662	0.460000	0.39030	GAC		0.313	RFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052720.1		NM_018339		70	108	0	0	0	0.01441	0	70	108		
NUTM2F	54754	broad.mit.edu	37	9	97082700	97082700	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:97082700G>C	ENST00000253262.4	-	5	1178	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V	NUTM2F_ENST00000341207.4_Silent_p.V371V|NUTM2F_ENST00000335456.7_Silent_p.V371V	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	386	Pro-rich.							p.V386V(2)|p.V252V(2)									TCTCCTCAGGGACCTTGGTCT	0.667																																						uc004aup.1		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)		0						c.(1156-1158)GTC>GTG		hypothetical protein LOC54754							48.0	59.0	56.0					9																	97082700		1967	4132	6099	SO:0001819	synonymous_variant	54754							g.chr9:97082700G>C		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1158C>G	9.37:g.97082700G>C							p.V386V	NM_017561	NP_060031	A1L443	FA22F_HUMAN			5	1179	-		Acute lymphoblastic leukemia(62;0.136)	386			Pro-rich.		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.1158C>G	CCDS47994.1																																																																																				0.667	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2		NM_017561		30	40	0	0	0	0.013726	0	30	40		
SNX30	401548	broad.mit.edu	37	9	115598511	115598511	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:115598511G>A	ENST00000374232.3	+	5	800	c.636G>A	c.(634-636)aaG>aaA	p.K212K		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	212					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.K212K(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACGCCTACAAGAAGCAAGGGA	0.498																																						uc004bgj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(634-636)AAG>AAA		sorting nexin family member 30							145.0	135.0	138.0					9																	115598511		1995	4185	6180	SO:0001819	synonymous_variant	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598511G>A	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.636G>A	9.37:g.115598511G>A						SNX30_uc004bgi.3_5'Flank	p.K212K	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			5	784	+			212						Silent	SNP	ENST00000374232.3	37	c.636G>A	CCDS43865.1																																																																																				0.498	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1				23	163	0	0	0	0.012319	0	23	163		
ZFP37	7539	broad.mit.edu	37	9	115805331	115805331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:115805331C>G	ENST00000374227.3	-	4	1594	c.1567G>C	c.(1567-1569)Ggg>Cgg	p.G523R	ZFP37_ENST00000555206.1_Missense_Mutation_p.G524R|ZFP37_ENST00000553380.1_Missense_Mutation_p.G538R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G523R(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCCTTTCCCACATTGATTA	0.388																																						uc004bgm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1567-1569)GGG>CGG		zinc finger protein 37 homolog							67.0	65.0	66.0					9																	115805331		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805331C>G	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1567G>C	9.37:g.115805331C>G	ENSP00000363344:p.Gly523Arg					ZFP37_uc011lwz.1_Missense_Mutation_p.G538R|ZFP37_uc011lxa.1_Missense_Mutation_p.G524R	p.G523R	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1595	-			523			C2H2-type 9.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1567G>C	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763039	0.69763	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.07800	3.16;3.16;3.16	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000407	T	0.30230	0.0758	M	0.80746	2.51	0.49915	D	0.999835	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.994;0.938	T	0.02844	-1.1103	10	0.66056	D	0.02	-3.5979	15.1218	0.72450	0.0:1.0:0.0:0.0	.	524;538;523	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	R	523;524;538	ENSP00000363344:G523R;ENSP00000451310:G524R;ENSP00000452552:G538R	ENSP00000363344:G523R	G	-	1	0	ZFP37	114845152	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.721000	0.68477	2.681000	0.91329	0.655000	0.94253	GGG		0.388	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		39	77	0	0	0	0.005524	0	39	77		
COL27A1	85301	broad.mit.edu	37	9	117027210	117027210	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:117027210C>G	ENST00000356083.3	+	30	3647	c.3256C>G	c.(3256-3258)Cca>Gca	p.P1086A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1086	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1086A(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGGGCCCTCCAGGACCCCA	0.647																																						uc011lxl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(3256-3258)CCA>GCA		collagen, type XXVII, alpha 1 precursor							50.0	56.0	54.0					9																	117027210		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117027210C>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3256C>G	9.37:g.117027210C>G	ENSP00000348385:p.Pro1086Ala					COL27A1_uc004bii.2_RNA	p.P1086A	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			30	3256	+			1086			Pro-rich.|Collagen-like 8.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3256C>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828632	0.16749	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.98633	-5.04	5.27	1.35	0.21983	.	.	.	.	.	D	0.95037	0.8393	L	0.35288	1.05	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	D	0.87248	0.2271	9	0.12766	T	0.61	.	5.9403	0.19189	0.0:0.436:0.3784:0.1857	.	1086	Q8IZC6	CORA1_HUMAN	A	1086	ENSP00000348385:P1086A	ENSP00000348385:P1086A	P	+	1	0	COL27A1	116067031	0.000000	0.05858	0.186000	0.23195	0.969000	0.65631	-0.123000	0.10611	-0.013000	0.14199	0.549000	0.68633	CCA		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		39	42	0	0	0	0.010771	0	39	42		
MVB12B	89853	broad.mit.edu	37	9	129157918	129157918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:129157918C>T	ENST00000361171.3	+	6	685	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	MVB12B_ENST00000436593.3_Nonsense_Mutation_p.Q187*|MVB12B_ENST00000535766.1_Nonsense_Mutation_p.Q195*|MVB12B_ENST00000545391.1_Nonsense_Mutation_p.Q202*	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	202					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.Q202*(1)									TGACTCATCTCAACCCACAAC	0.522																																						uc004bqh.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(604-606)CAA>TAA		hypothetical protein LOC89853 isoform 1							196.0	170.0	179.0					9																	129157918		2203	4300	6503	SO:0001587	stop_gained	89853				protein transport	late endosome membrane		g.chr9:129157918C>T	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.604C>T	9.37:g.129157918C>T	ENSP00000354772:p.Gln202*					FAM125B_uc004bqg.1_Nonsense_Mutation_p.Q202*|FAM125B_uc011lzy.1_Nonsense_Mutation_p.Q187*|FAM125B_uc010mxd.2_Nonsense_Mutation_p.Q195*|FAM125B_uc011lzz.1_Nonsense_Mutation_p.Q195*	p.Q202*	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN			6	685	+			202					Q8N6S7	Nonsense_Mutation	SNP	ENST00000361171.3	37	c.604C>T	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	C	38	6.789035	0.97841	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	.	.	.	5.69	5.69	0.88448	.	0.364025	0.31922	N	0.006844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.6583	15.3042	0.73979	0.0:0.8606:0.1394:0.0	.	.	.	.	X	202;202;187;187;195	.	ENSP00000354772:Q202X	Q	+	1	0	FAM125B	128197739	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.222000	0.58580	2.676000	0.91093	0.655000	0.94253	CAA		0.522	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1		XM_088525		26	143	0	0	0	0.004656	0	26	143		
RALGPS1	9649	broad.mit.edu	37	9	129958857	129958857	+	Missense_Mutation	SNP	G	G	A	rs201112886		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:129958857G>A	ENST00000259351.5	+	13	1409	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	381					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R381Q(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGCAGCCCCCGAAGGGGCCTG	0.577																																						uc004bqo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1141-1143)CGA>CAA		Ral GEF with PH domain and SH3 binding motif 1							113.0	111.0	112.0					9																	129958857		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129958857G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1142G>A	9.37:g.129958857G>A	ENSP00000259351:p.Arg381Gln					RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron	p.R381Q	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			13	1409	+			381					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.1142G>A	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180777	0.57800	.	.	ENSG00000136828	ENST00000259351	T	0.24151	1.87	5.48	5.48	0.80851	.	0.569905	0.15198	U	0.275170	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	B	0.24132	0.098	B	0.24848	0.056	T	0.16100	-1.0414	10	0.25106	T	0.35	.	11.7516	0.51852	0.0:0.0:0.7172:0.2827	.	381	Q5JS13	RGPS1_HUMAN	Q	381	ENSP00000259351:R381Q	ENSP00000259351:R381Q	R	+	2	0	RALGPS1	128998678	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.252000	0.43196	2.572000	0.86782	0.491000	0.48974	CGA		0.577	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1		NM_014636		61	47	0	0	0	0.01441	0	61	47		
CRAT	1384	broad.mit.edu	37	9	131864290	131864290	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:131864290G>A	ENST00000318080.2	-	6	971	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	226					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.A226V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GATCTGATCCGCAGTGAGGGG	0.567																																						uc004bxh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(676-678)GCG>GTG		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						135.0	111.0	119.0					9																	131864290		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864290G>A	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.677C>T	9.37:g.131864290G>A	ENSP00000315013:p.Ala226Val					CRAT_uc004bxg.2_Missense_Mutation_p.A205V|CRAT_uc004bxk.3_Missense_Mutation_p.A205V	p.A226V	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	6	959	-			226					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.677C>T	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	G	6.164	0.398390	0.11696	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.88818	-2.43	4.84	4.84	0.62591	.	0.670270	0.15016	N	0.285256	T	0.79656	0.4483	N	0.05078	-0.115	0.32062	N	0.595618	B	0.06786	0.001	B	0.10450	0.005	T	0.76361	-0.2987	10	0.39692	T	0.17	-7.8454	17.1064	0.86664	0.0:0.0:1.0:0.0	.	226	P43155	CACP_HUMAN	V	226	ENSP00000315013:A226V	ENSP00000315013:A226V	A	-	2	0	CRAT	130904111	0.231000	0.23751	0.016000	0.15963	0.013000	0.08279	3.266000	0.51569	2.499000	0.84300	0.561000	0.74099	GCG		0.567	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1				4	38	0	0	0	0.009096	0	4	38		
ABL1	25	broad.mit.edu	37	9	133760298	133760298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:133760298G>A	ENST00000318560.5	+	11	3002	c.2621G>A	c.(2620-2622)aGa>aAa	p.R874K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	874	DNA-binding. {ECO:0000250}.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.R874K(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAGGAGTCCAGAGTGAGGAGG	0.667			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2		NaN		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(2620-2622)AGA>AAA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						11.0	13.0	12.0					9																	133760298		2187	4281	6468	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760298G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2621G>A	9.37:g.133760298G>A	ENSP00000323315:p.Arg874Lys					ABL1_uc004bzv.2_Missense_Mutation_p.R893K	p.R874K	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2624	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	874			DNA-binding (By similarity).|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.2621G>A	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	5.010	0.187548	0.09547	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.14640	2.49;2.49	5.27	4.37	0.52481	.	0.099026	0.64402	N	0.000004	T	0.10594	0.0259	L	0.27053	0.805	0.19575	N	0.999968	P;P	0.42649	0.786;0.786	B;B	0.40228	0.323;0.214	T	0.15752	-1.0426	10	0.25751	T	0.34	.	12.9898	0.58612	0.0781:0.0:0.9219:0.0	.	874;911	P00519;Q59FK4	ABL1_HUMAN;.	K	689;893;874	ENSP00000361423:R893K;ENSP00000323315:R874K	ENSP00000323315:R874K	R	+	2	0	ABL1	132750119	0.958000	0.32768	0.002000	0.10522	0.012000	0.07955	5.335000	0.65929	1.224000	0.43551	-0.258000	0.10820	AGA		0.667	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313		5	12	0	0	0	0.001984	0	5	12		
RAPGEF1	2889	broad.mit.edu	37	9	134454941	134454941	+	Silent	SNP	C	C	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:134454941C>G	ENST00000372189.3	-	24	3300	c.3177G>C	c.(3175-3177)ctG>ctC	p.L1059L	RAPGEF1_ENST00000372190.3_Silent_p.L1077L|RAPGEF1_ENST00000372195.1_Silent_p.L1076L	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1059	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.L1077L(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTTTAATTTTCAGAGACAGTT	0.517																																						uc004cbc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(3175-3177)CTG>CTC		guanine nucleotide-releasing factor 2 isoform a							184.0	187.0	186.0					9																	134454941		1897	4125	6022	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134454941C>G	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.3177G>C	9.37:g.134454941C>G						RAPGEF1_uc004cbb.2_Silent_p.L1077L	p.L1059L	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	24	3307	-		Myeloproliferative disorder(178;0.204)	1059			Ras-GEF.		Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.3177G>C	CCDS48047.1																																																																																				0.517	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2		NM_005312		34	148	0	0	0	0.003271	0	34	148		
MED27	9442	broad.mit.edu	37	9	134952861	134952861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:134952861G>C	ENST00000292035.5	-	2	379	c.316C>G	c.(316-318)Caa>Gaa	p.Q106E	MED27_ENST00000357028.2_Missense_Mutation_p.Q106E|RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000474263.1_Missense_Mutation_p.Q106E	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	106					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.Q106E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TGAAGGAGTTGACTATAGAGA	0.418																																					Colon(41;784 923 6932 42329 52483)	uc004cbe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(316-318)CAA>GAA		mediator complex subunit 27							180.0	175.0	177.0					9																	134952861		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134952861G>C	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.316C>G	9.37:g.134952861G>C	ENSP00000292035:p.Gln106Glu					MED27_uc004cbf.1_Missense_Mutation_p.Q106E|MED27_uc011mco.1_Missense_Mutation_p.Q106E|MED27_uc004cbg.3_Missense_Mutation_p.Q106E	p.Q106E	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	2	338	-		Myeloproliferative disorder(178;0.206)	106					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.316C>G	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684608	0.68157	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	M	0.65498	2.005	0.80722	D	1	B;P;B	0.43578	0.367;0.811;0.252	B;P;B	0.54924	0.208;0.764;0.051	T	0.72544	-0.4261	8	.	.	.	-31.5545	17.8167	0.88637	0.0:0.0:1.0:0.0	.	106;106;106	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	E	106;68;106	.	.	Q	-	1	0	MED27	133942682	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.789000	0.99068	2.512000	0.84698	0.591000	0.81541	CAA		0.418	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2		NM_004269		43	213	0	0	0	0.01441	0	43	213		
TSC1	7248	broad.mit.edu	37	9	135781419	135781419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:135781419G>A	ENST00000298552.3	-	15	1767	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q516*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q465*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	516					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.Q516*(2)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTCCGCTGAGAACCTGGG	0.567			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			3	Substitution - Nonsense(2)|Unknown(1)	p.?(1)	urinary_tract(1)|kidney(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(1546-1548)CAG>TAG		tuberous sclerosis 1 protein isoform 1							47.0	46.0	47.0					9																	135781419		2203	4300	6503	SO:0001587	stop_gained	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135781419G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1546C>T	9.37:g.135781419G>A	ENSP00000298552:p.Gln516*					TSC1_uc004ccb.3_Nonsense_Mutation_p.Q515*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q465*|TSC1_uc011mcr.1_Intron	p.Q516*	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	1780	-			516					B7Z897|Q5VVN5	Nonsense_Mutation	SNP	ENST00000298552.3	37	c.1546C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	40	8.491696	0.98834	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	6.05	6.05	0.98169	.	0.151264	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-10.8497	19.5894	0.95501	0.0:0.0:1.0:0.0	.	.	.	.	X	516;516;465	.	ENSP00000298552:Q516X	Q	-	1	0	TSC1	134771240	1.000000	0.71417	0.994000	0.49952	0.883000	0.51084	8.618000	0.90932	2.878000	0.98634	0.650000	0.86243	CAG		0.567	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				21	19	0	0	0	0.010504	0	21	19		
FCN2	2220	broad.mit.edu	37	9	137777709	137777709	+	Silent	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:137777709G>A	ENST00000291744.6	+	6	535	c.525G>A	c.(523-525)ctG>ctA	p.L175L	FCN2_ENST00000350339.2_Silent_p.L137L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	175	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.L175L(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGTTCTGGCTGGGGAATGACA	0.672																																						uc004cfg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(523-525)CTG>CTA		ficolin 2 isoform a precursor							55.0	54.0	54.0					9																	137777709		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137777709G>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.525G>A	9.37:g.137777709G>A						FCN2_uc004cfh.1_Silent_p.L137L	p.L175L	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	6	535	+		Myeloproliferative disorder(178;0.0333)	175			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.525G>A	CCDS6983.1																																																																																				0.672	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1		NM_004108		26	24	0	0	0	0.004656	0	26	24		
FCN1	2219	broad.mit.edu	37	9	137804336	137804336	+	Silent	SNP	G	G	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr9:137804336G>C	ENST00000371806.3	-	7	685	c.594C>G	c.(592-594)gcC>gcG	p.A198A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	198	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.A198A(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCCTACCCTGGGCAGTCAGGG	0.642																																						uc004cfi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(592-594)GCC>GCG		ficolin 1 precursor							42.0	40.0	41.0					9																	137804336		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137804336G>C	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.594C>G	9.37:g.137804336G>C							p.A198A	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	7	686	-		Myeloproliferative disorder(178;0.0333)	198			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.594C>G	CCDS6985.1																																																																																				0.642	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1		NM_002003		4	13	0	0	0	0.001168	0	4	13		
IL3RA	3563	broad.mit.edu	37	X	1475113	1475113	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:1475113G>A	ENST00000331035.4	+	7	965		c.e7-1		IL3RA_ENST00000381469.2_Splice_Site	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)						cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.?(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCGTTGCTAGAGATATTAAC	0.328																																						uc004cps.2		NaN																	1	Unknown(1)		urinary_tract(1)	skin(2)|lung(1)	3						c.e7-1		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						174.0	165.0	168.0					X																	1475113		2203	4296	6499	SO:0001630	splice_region_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1475113G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.617-1G>A	X.37:g.1475113G>A						IL3RA_uc011mhd.1_Splice_Site_p.E128_splice	p.E206_splice	NM_002183	NP_002174	P26951	IL3RA_HUMAN			7	966	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Splice_Site	SNP	ENST00000331035.4	37	c.617_splice	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	1.961	-0.438790	0.04636	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	.	.	.	0.852	0.852	0.18995	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8734	0.13644	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL3RA	1435113	0.097000	0.21791	0.008000	0.14137	0.334000	0.28698	1.147000	0.31602	0.734000	0.32515	0.115000	0.15696	.		0.328	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			Intron	52	171	0	0	0	0.01441	0	52	171		
MXRA5	25878	broad.mit.edu	37	X	3239350	3239350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:3239350G>A	ENST00000217939.6	-	5	4530	c.4376C>T	c.(4375-4377)aCc>aTc	p.T1459I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1459						extracellular vesicular exosome (GO:0070062)		p.T1459I(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGATCAAGGGTGGTGGTTTC	0.488																																						uc004crg.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4375-4377)ACC>ATC		adlican precursor							76.0	66.0	69.0					X																	3239350		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239350G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4376C>T	X.37:g.3239350G>A	ENSP00000217939:p.Thr1459Ile						p.T1459I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4533	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1459					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4376C>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	2.186	-0.386351	0.04966	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.08	-0.265	0.12946	.	2.192220	0.02770	N	0.119607	T	0.32436	0.0829	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34675	-0.9819	10	0.02654	T	1	.	4.2661	0.10764	0.3859:0.0:0.4546:0.1595	.	1459	Q9NR99	MXRA5_HUMAN	I	1459	ENSP00000217939:T1459I	ENSP00000217939:T1459I	T	-	2	0	MXRA5	3249350	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.226000	0.17776	-0.553000	0.06158	0.423000	0.28283	ACC		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		40	32	0	0	0	0.00623	0	40	32		
ARHGAP6	395	broad.mit.edu	37	X	11272742	11272742	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:11272742G>A	ENST00000337414.4	-	2	1546	c.674C>T	c.(673-675)gCc>gTc	p.A225V	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A225V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A50V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A22V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A257V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A22V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A34V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	225					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.A225V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCAGCCGGGCCCTCTCCAG	0.547																																						uc004cup.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	urinary_tract(1)|lung(1)	2						c.(673-675)GCC>GTC		Rho GTPase activating protein 6 isoform 1							65.0	62.0	63.0					X																	11272742		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11272742G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.674C>T	X.37:g.11272742G>A	ENSP00000338967:p.Ala225Val					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A225V|ARHGAP6_uc004cum.1_Missense_Mutation_p.A22V|ARHGAP6_uc004cun.1_Missense_Mutation_p.A45V|ARHGAP6_uc010neb.1_Missense_Mutation_p.A47V|ARHGAP6_uc011mif.1_Missense_Mutation_p.A22V	p.A225V	NM_013427	NP_038286	O43182	RHG06_HUMAN			2	1547	-			225					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.674C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349514	0.61183	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.23950	1.89;1.91;1.91;1.9;1.88;1.88;1.93;1.94	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000087	T	0.24547	0.0595	L	0.43152	1.355	0.58432	D	0.999999	B;B;P;P;P	0.41929	0.051;0.11;0.48;0.604;0.765	B;B;B;B;B	0.38985	0.016;0.018;0.12;0.135;0.287	T	0.02705	-1.1121	10	0.24483	T	0.36	.	17.4048	0.87470	0.0:0.0:1.0:0.0	.	34;22;225;225;225	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	50;22;22;225;61;225;34;257	ENSP00000438135:A50V;ENSP00000370112:A22V;ENSP00000302312:A22V;ENSP00000338967:A225V;ENSP00000370093:A61V;ENSP00000370094:A225V;ENSP00000389394:A34V;ENSP00000370108:A257V	ENSP00000302312:A22V	A	-	2	0	ARHGAP6	11182663	1.000000	0.71417	0.845000	0.33349	0.982000	0.71751	3.635000	0.54309	2.035000	0.60131	0.600000	0.82982	GCC		0.547	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2		NM_013427		27	29	0	0	0	0.005443	0	27	29		
MAGEB10	139422	broad.mit.edu	37	X	27840056	27840056	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:27840056C>T	ENST00000356790.2	+	3	878	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	211	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGGGTATTATCTTCACAAATG	0.473																																						uc004dbw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(631-633)ATC>ATT		melanoma antigen family B, 10							69.0	56.0	61.0					X																	27840056		2202	4299	6501	SO:0001819	synonymous_variant	139422							g.chrX:27840056C>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.633C>T	X.37:g.27840056C>T							p.I211I	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	860	+			211			MAGE.		Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	ENST00000356790.2	37	c.633C>T	CCDS35221.1																																																																																				0.473	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1		NM_182506		15	38	0	0	0	0.003163	0	15	38		
ARAF	369	broad.mit.edu	37	X	47422403	47422403	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:47422403G>A	ENST00000377045.4	+	2	231	c.37G>A	c.(37-39)Gag>Aag	p.E13K	ARAF_ENST00000377039.2_Missense_Mutation_p.E13K|ARAF_ENST00000290277.6_Missense_Mutation_p.E13K	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	13					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.E13K(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CAATGGGGCCGAGCCATCCCG	0.627											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011mlq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|lung(2)|ovary(1)|skin(1)	7						c.(37-39)GAG>AAG		v-raf murine sarcoma 3611 viral oncogene	Adenosine triphosphate(DB00171)						24.0	23.0	23.0					X																	47422403		2193	4286	6479	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47422403G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.37G>A	X.37:g.47422403G>A	ENSP00000366244:p.Glu13Lys		OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Missense_Mutation_p.E13K|ARAF_uc004dic.1_5'Flank	p.E13K	NM_001654	NP_001645	P10398	ARAF_HUMAN			2	170	+			13					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.37G>A	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262955	0.39995	.	.	ENSG00000078061	ENST00000377045;ENST00000290277;ENST00000377039	T;D;D	0.94232	-0.77;-3.38;-3.38	5.55	4.64	0.57946	.	0.240353	0.44285	D	0.000472	D	0.84370	0.5457	L	0.29908	0.895	0.34209	D	0.674043	P	0.41475	0.751	B	0.27796	0.083	D	0.86329	0.1697	10	0.16896	T	0.51	.	11.7114	0.51626	0.0:0.1747:0.8253:0.0	.	13	P10398	ARAF_HUMAN	K	13	ENSP00000366244:E13K;ENSP00000290277:E13K;ENSP00000366238:E13K	ENSP00000290277:E13K	E	+	1	0	ARAF	47307347	0.999000	0.42202	0.993000	0.49108	0.957000	0.61999	2.567000	0.45956	2.468000	0.83385	0.600000	0.82982	GAG		0.627	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1				4	3	0	0	0	0.009096	0	4	3		
GNL3L	54552	broad.mit.edu	37	X	54569458	54569458	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:54569458A>G	ENST00000336470.4	+	6	516	c.377A>G	c.(376-378)aAg>aGg	p.K126R	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.K126R	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	126	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.K126R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GCTTATTACAAGGAGTTCCGT	0.453																																						uc004dth.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(376-378)AAG>AGG		guanine nucleotide binding protein-like 3							82.0	79.0	80.0					X																	54569458		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54569458A>G	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.377A>G	X.37:g.54569458A>G	ENSP00000338573:p.Lys126Arg					GNL3L_uc004dti.2_RNA	p.K126R	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			6	516	+			126						Missense_Mutation	SNP	ENST00000336470.4	37	c.377A>G	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	A	2.738	-0.262779	0.05754	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.12984	2.63;2.63	3.58	1.21	0.21127	.	0.100092	0.64402	N	0.000006	T	0.03783	0.0107	N	0.02539	-0.55	0.32507	N	0.538015	B	0.02656	0.0	B	0.08055	0.003	T	0.37888	-0.9686	10	0.09590	T	0.72	-12.8365	5.8473	0.18673	0.6277:0.0:0.3723:0.0	.	126	Q9NVN8	GNL3L_HUMAN	R	126	ENSP00000338573:K126R;ENSP00000354091:K126R	ENSP00000338573:K126R	K	+	2	0	GNL3L	54586183	1.000000	0.71417	0.999000	0.59377	0.702000	0.40608	3.101000	0.50283	0.380000	0.24823	0.412000	0.27726	AAG		0.453	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1		NM_019067		23	15	0	0	0	0.00278	0	23	15		
LAS1L	81887	broad.mit.edu	37	X	64753613	64753613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:64753613G>A	ENST00000374811.3	-	2	279	c.239C>T	c.(238-240)tCa>tTa	p.S80L	LAS1L_ENST00000312391.8_Missense_Mutation_p.S80L|LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000374807.5_Missense_Mutation_p.S80L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	80					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S80L(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCGTTGCCTGACCTAAAGGG	0.517																																						uc004dwa.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(3)|large_intestine(1)	4						c.(238-240)TCA>TTA		LAS1-like							144.0	102.0	116.0					X																	64753613		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64753613G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.239C>T	X.37:g.64753613G>A	ENSP00000363944:p.Ser80Leu					LAS1L_uc004dwc.1_Missense_Mutation_p.S80L|LAS1L_uc004dwd.1_Intron	p.S80L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			2	311	-			80					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.239C>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	5.154	0.213931	0.09810	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000312391	.	.	.	5.35	2.97	0.34412	.	0.470122	0.23219	N	0.050583	T	0.11879	0.0289	N	0.04203	-0.255	0.26048	N	0.981521	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.17289	-1.0374	9	0.11182	T	0.66	.	1.103	0.01688	0.51:0.2044:0.1109:0.1747	.	80;80	Q9Y4W2-2;Q9Y4W2	.;LAS1L_HUMAN	L	80	.	ENSP00000308649:S80L	S	-	2	0	LAS1L	64670338	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.301000	0.33447	0.841000	0.35020	-0.340000	0.08031	TCA		0.517	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1		NM_031206		23	17	0	0	0	0.009535	0	23	17		
DIAPH2	1730	broad.mit.edu	37	X	96136711	96136711	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:96136711C>T	ENST00000324765.8	+	5	928	c.581C>T	c.(580-582)cCg>cTg	p.P194L	DIAPH2_ENST00000373049.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P190L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P194L|RPA4_ENST00000373040.3_5'Flank|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P194L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	194	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.P194L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCAGCAATCCGGTCAGGTAA	0.343																																						uc004efu.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(1)	4						c.(580-582)CCG>CTG		diaphanous 2 isoform 156							83.0	77.0	79.0					X																	96136711		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96136711C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.581C>T	X.37:g.96136711C>T	ENSP00000321348:p.Pro194Leu					DIAPH2_uc004eft.3_Missense_Mutation_p.P194L|DIAPH2_uc004efs.2_Missense_Mutation_p.P201L|RPA4_uc004efv.3_5'Flank	p.P194L	NM_006729	NP_006720	O60879	DIAP2_HUMAN			5	977	+			194			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.581C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466875	0.63625	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.59	5.59	0.84812	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.95943	0.8948	10	0.87932	D	0	.	18.6126	0.91291	0.0:1.0:0.0:0.0	.	194;194;201	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	194;190;194;194;194;201	ENSP00000362152:P194L;ENSP00000362145:P190L;ENSP00000348082:P194L;ENSP00000362140:P194L;ENSP00000321348:P194L	ENSP00000321348:P194L	P	+	2	0	DIAPH2	96023367	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.403000	0.79983	2.338000	0.79540	0.594000	0.82650	CCG		0.343	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2		NM_006729, NM_007309		51	33	0	0	0	0.01441	0	51	33		
BTK	695	broad.mit.edu	37	X	100608277	100608277	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:100608277C>T	ENST00000308731.7	-	18	1976	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	BTK_ENST00000372880.1_Missense_Mutation_p.E429K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.E605K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCAGCAGTCTCACTGTTAGTA	0.433									Agammaglobulinemia, X-linked																													uc004ehg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1813-1815)GAG>AAG		Bruton agammaglobulinemia tyrosine kinase							245.0	219.0	228.0					X																	100608277		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100608277C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1813G>A	X.37:g.100608277C>T	ENSP00000308176:p.Glu605Lys					BTK_uc004ehf.2_Missense_Mutation_p.E105K|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.E81K|BTK_uc010nnm.2_Missense_Mutation_p.E175K|BTK_uc010nnn.2_Missense_Mutation_p.E429K|BTK_uc010nno.2_Missense_Mutation_p.E639K	p.E605K	NM_000061	NP_000052	Q06187	BTK_HUMAN			18	2006	-			605			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1813G>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592298	0.86953	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000308731	D;D	0.83163	-1.69;-1.69	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.116735	0.64402	D	0.000006	D	0.88081	0.6341	L	0.54863	1.705	0.80722	D	1	D;P;D;D	0.65815	0.991;0.876;0.985;0.995	P;P;P;P	0.60173	0.87;0.528;0.842;0.864	D	0.89273	0.3606	10	0.72032	D	0.01	.	17.7126	0.88326	0.0:1.0:0.0:0.0	.	429;276;180;605	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	K	429;154;85;180;605	ENSP00000361971:E429K;ENSP00000308176:E605K	ENSP00000308176:E605K	E	-	1	0	BTK	100494933	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.050000	0.71063	2.300000	0.77407	0.600000	0.82982	GAG		0.433	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2		NM_000061		110	88	0	0	0	0.01441	0	110	88		
PAK3	5063	broad.mit.edu	37	X	110395674	110395674	+	Splice_Site	SNP	C	C	T	rs139949467		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:110395674C>T	ENST00000372010.1	+	9	954	c.512C>T	c.(511-513)tCg>tTg	p.S171L	PAK3_ENST00000360648.4_Splice_Site_p.S192L|PAK3_ENST00000417227.1_Splice_Site_p.S177L|PAK3_ENST00000446737.1_Splice_Site_p.S156L|PAK3_ENST00000425146.1_Splice_Site_p.S156L|PAK3_ENST00000372007.5_Splice_Site_p.S156L|PAK3_ENST00000262836.4_Splice_Site_p.S171L|PAK3_ENST00000518291.1_Splice_Site_p.S192L|PAK3_ENST00000519681.1_Splice_Site_p.S177L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	171	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S192L(1)|p.S156L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCCCATCCTTCGGTAAGTGAA	0.338										TSP Lung(19;0.15)																												uc004epa.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(6)|ovary(3)|large_intestine(1)	10						c.(511-513)TCG>TTG		p21-activated kinase 3 isoform d		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,3834		0,1,1631,571	84.0	73.0	77.0		467,467,575,530,512,467	5.7	1.0	X	dbSNP_134	77	0,6726		0,0,2428,1870	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	PAK3	NM_001128166.1,NM_001128167.1,NM_001128168.1,NM_001128172.1,NM_001128173.1,NM_002578.3	145,145,145,145,145,145	0,1,4059,2441	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign	156/545,156/545,192/581,177/566,171/560,156/545	110395674	1,10560	2203	4298	6501	SO:0001630	splice_region_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110395674C>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.513+1C>T	X.37:g.110395674C>T		TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.S156L|PAK3_uc010npu.1_Missense_Mutation_p.S156L|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.S156L|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.S192L|PAK3_uc010npw.1_Missense_Mutation_p.S177L	p.S171L	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			5	539	+			171			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.512C>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791493	0.31685	2.61E-4	0.0	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.62;-0.62;-0.64;-0.61;-0.61;-0.62;-0.62	5.69	5.69	0.88448	.	0.313086	0.27088	N	0.020982	T	0.43122	0.1233	N	0.02202	-0.64	0.39862	D	0.973395	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.06405	0.001;0.001;0.0;0.002	T	0.46541	-0.9184	10	0.12103	T	0.63	.	12.2332	0.54500	0.0:0.9206:0.0:0.0794	.	177;192;171;156	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	L	156;156;171;177;156;192;192;177;171	ENSP00000410853:S156L;ENSP00000401982:S156L;ENSP00000361080:S171L;ENSP00000429113:S177L;ENSP00000361077:S156L;ENSP00000428921:S192L;ENSP00000353864:S192L;ENSP00000389172:S177L;ENSP00000262836:S171L	ENSP00000262836:S171L	S	+	2	0	PAK3	110282330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.118000	0.64673	2.389000	0.81357	0.600000	0.82982	TCG		0.338	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1		NM_002578	Missense_Mutation	17	57	0	0	0	0.006122	0	17	57		
TKTL1	8277	broad.mit.edu	37	X	153524334	153524334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:153524334C>T	ENST00000369915.3	+	1	311	c.122C>T	c.(121-123)tCc>tTc	p.S41F	TKTL1_ENST00000217905.7_5'UTR|TEX28_ENST00000369926.1_5'Flank	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	41					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.S41F(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACATGCTCCACGAGCTCC	0.622																																						uc004fkg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(121-123)TCC>TTC		transketolase-like 1 isoform a							131.0	111.0	118.0					X																	153524334		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153524334C>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.122C>T	X.37:g.153524334C>T	ENSP00000358931:p.Ser41Phe					TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.S41F|TKTL1_uc011mzm.1_Missense_Mutation_p.S41F	p.S41F	NM_012253	NP_036385	P51854	TKTL1_HUMAN			1	308	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		41					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.122C>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013368	0.54468	.	.	ENSG00000007350	ENST00000369915	T	0.31769	1.48	4.46	3.6	0.41247	Transketolase, N-terminal (1);	0.448040	0.22207	N	0.063150	T	0.35008	0.0917	L	0.41356	1.27	0.80722	D	1	P;B	0.48407	0.91;0.02	P;B	0.51550	0.673;0.022	T	0.08700	-1.0709	10	0.72032	D	0.01	-3.5824	10.844	0.46733	0.0:0.9013:0.0:0.0987	.	41;41	B7Z7I0;P51854	.;TKTL1_HUMAN	F	41	ENSP00000358931:S41F	ENSP00000358931:S41F	S	+	2	0	TKTL1	153177528	0.058000	0.20735	0.001000	0.08648	0.003000	0.03518	3.115000	0.50391	0.800000	0.34041	0.529000	0.55759	TCC		0.622	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1		NM_012253		18	53	0	0	0	0.00499	0	18	53		
PLXNA3	55558	broad.mit.edu	37	X	153697282	153697282	+	Silent	SNP	C	C	T			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:153697282C>T	ENST00000369682.3	+	25	4579	c.4404C>T	c.(4402-4404)ctC>ctT	p.L1468L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1468					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.L1468L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGACAAGCTCATCCGTCAGC	0.612																																						uc004flm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4402-4404)CTC>CTT		plexin A3 precursor							112.0	82.0	92.0					X																	153697282		2203	4298	6501	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697282C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4404C>T	X.37:g.153697282C>T							p.L1468L	NM_017514	NP_059984	P51805	PLXA3_HUMAN			25	4577	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1468			Cytoplasmic (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.4404C>T	CCDS14752.1																																																																																				0.612	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1		NM_017514		34	23	0	0	0	0.004878	0	34	23		
USP9Y	8287	broad.mit.edu	37	Y	14832567	14832567	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrY:14832567C>A	ENST00000338981.3	+	4	1087	c.142C>A	c.(142-144)Cct>Act	p.P48T	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	48					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.P48T(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCAACTCCTCCTCCAGAGGA	0.403																																						uc004fst.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(142-144)CCT>ACT		ubiquitin specific protease 9, Y-linked							62.0	66.0	65.0					Y																	14832567		598	1939	2537	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14832567C>A	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.142C>A	Y.37:g.14832567C>A	ENSP00000342812:p.Pro48Thr					USP9Y_uc010nwu.1_RNA	p.P48T	NM_004654	NP_004645	O00507	USP9Y_HUMAN			4	1087	+			48					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.142C>A	CCDS14781.1																																																																																				0.403	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2		NM_004654		25	28	1	0	6.36457e-07	0.003954	6.53519e-07	25	28		
TNFRSF25	8718	broad.mit.edu	37	1	6525566	6525567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:6525566_6525567insG	ENST00000356876.3	-	2	180_181	c.93_94insC	c.(91-96)cccaggfs	p.R32fs	TNFRSF25_ENST00000348333.3_Frame_Shift_Ins_p.R32fs|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000377782.3_Frame_Shift_Ins_p.R32fs|TNFRSF25_ENST00000351748.3_Frame_Shift_Ins_p.R32fs|TNFRSF25_ENST00000351959.5_Frame_Shift_Ins_p.R32fs	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	32					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)		CAGTCACACCTGGGGCTACGAG	0.673																																						uc001ane.2		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(91-96)CCCAGGfs		tumor necrosis factor receptor superfamily,																																				SO:0001589	frameshift_variant	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6525566_6525567insG	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.94dupC	1.37:g.6525570_6525570dupG	ENSP00000349341:p.Arg32fs					TNFRSF25_uc001ana.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001ang.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001anh.2_Frame_Shift_Ins_p.P31fs|TNFRSF25_uc001ani.1_Frame_Shift_Ins_p.P31fs	p.P31fs	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)	2	181_182	-	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)	31_32			Extracellular (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	Frame_Shift_Ins	INS	ENST00000356876.3	37	c.93_94insC	CCDS71.1																																																																																				0.673	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1		NM_148965		9	43	NaN	NaN	NaN	NaN	NaN	9	43	---	---
ENO1	2023	broad.mit.edu	37	1	8927225	8927226	+	Frame_Shift_Ins	INS	-	-	GG	rs144538182|rs529227052		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:8927225_8927226insGG	ENST00000234590.4	-	6	513_514	c.394_395insCC	c.(394-396)cgcfs	p.R132fs		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	132	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGCGATGTGGCGGTACAGGGGG	0.559																																					Esophageal Squamous(21;302 608 19946 22210 33560)	uc001apj.1		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(394-396)CGCfs		enolase 1																																				SO:0001589	frameshift_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8927225_8927226insGG	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.393_394dupCC	1.37:g.8927226_8927227dupGG	ENSP00000234590:p.Arg132fs					ENO1_uc001api.1_Frame_Shift_Ins_p.R36fs|ENO1_uc001apk.1_Frame_Shift_Ins_p.R77fs|ENO1_uc001apl.1_Frame_Shift_Ins_p.R132fs|ENO1_uc009vmi.1_Frame_Shift_Ins_p.R89fs|ENO1_uc009vmj.1_Frame_Shift_Ins_p.R132fs|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Frame_Shift_Ins_p.R132fs	p.R132fs	NM_001428	NP_001419	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	6	545_546	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	132			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Frame_Shift_Ins	INS	ENST00000234590.4	37	c.394_395insCC	CCDS97.1																																																																																				0.559	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1		NM_001428		9	81	NaN	NaN	NaN	NaN	NaN	9	81	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						uc001cfe.2		NaN																	0				ovary(1)	1						c.(43-45)TCTfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs						p.S15fs	NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1		NM_001008740		8	810	NaN	NaN	NaN	NaN	NaN	8	810	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156911698	156911698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr1:156911698delG	ENST00000361409.2	-	33	4032	c.3290delC	c.(3289-3291)ccafs	p.P1097fs	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Frame_Shift_Del_p.P1137fs|ARHGEF11_ENST00000315174.8_Frame_Shift_Del_p.P513fs	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1097	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGGGACCTGGGGGTGGAGG	0.647																																						uc001fqo.2		NaN																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(3289-3291)CCAfs		Rho guanine nucleotide exchange factor (GEF) 11							42.0	52.0	48.0					1																	156911698		2203	4300	6503	SO:0001589	frameshift_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156911698delG	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3290delC	1.37:g.156911698delG	ENSP00000354644:p.Pro1097fs					ARHGEF11_uc010phu.1_Frame_Shift_Del_p.P513fs|ARHGEF11_uc001fqn.2_Frame_Shift_Del_p.P1137fs	p.P1097fs	NM_014784	NP_055599	O15085	ARHGB_HUMAN			33	4330	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1097			Poly-Pro.		D3DVD0|Q5VY40|Q6PFW2	Frame_Shift_Del	DEL	ENST00000361409.2	37	c.3290delC	CCDS1162.1																																																																																				0.647	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		NM_198236		14	81	NaN	NaN	NaN	NaN	NaN	14	81	---	---
TSKU	25987	broad.mit.edu	37	11	76507283	76507284	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr11:76507283_76507284insC	ENST00000527881.1	+	2	1649_1650	c.623_624insC	c.(622-627)cgctacfs	p.Y209fs	TSKU_ENST00000333090.4_Frame_Shift_Ins_p.Y209fs			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	209					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TTGCCCCTGCGCTACCTGAGCC	0.673																																						uc001oxt.2		NaN																	0					0						c.(622-624)CGCfs		tsukushin precursor																																				SO:0001589	frameshift_variant	25987					extracellular region		g.chr11:76507283_76507284insC	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.624dupC	11.37:g.76507284_76507284dupC	ENSP00000434847:p.Tyr209fs						p.R208fs	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	795_796	+	Ovarian(111;0.112)		208			LRR 7.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Frame_Shift_Ins	INS	ENST00000527881.1	37	c.623_624insC	CCDS8246.1																																																																																				0.673	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1		NM_015516		43	127	NaN	NaN	NaN	NaN	NaN	43	127	---	---
MBD6	114785	broad.mit.edu	37	12	57920933	57920934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr12:57920933_57920934insC	ENST00000355673.3	+	7	2361_2362	c.2005_2006insC	c.(2005-2007)gccfs	p.A669fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.A669fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	669	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCACTTTCAGCCCCCCCTACC	0.639																																						uc001soj.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2005-2007)GCCfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920933_57920934insC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2012dupC	12.37:g.57920940_57920940dupC	ENSP00000347896:p.Ala669fs					MBD6_uc001sok.1_Frame_Shift_Ins_p.A536fs|MBD6_uc001sol.1_RNA	p.A669fs	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			7	2229_2230	+			669			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	ENST00000355673.3	37	c.2005_2006insC	CCDS8944.1																																																																																				0.639	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				10	38	NaN	NaN	NaN	NaN	NaN	10	38	---	---
KEAP1	9817	broad.mit.edu	37	19	10599968	10599969	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr19:10599968_10599969insCA	ENST00000171111.5	-	5	2154_2155	c.1607_1608insTG	c.(1606-1608)cgcfs	p.R536fs	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.R536fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	536					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R536H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCACATCGTAGCGCTCCACGCT	0.574																																						uc002moq.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1606-1608)CGCfs		kelch-like ECH-associated protein 1																																				SO:0001589	frameshift_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10599968_10599969insCA	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1607_1608insTG	19.37:g.10599968_10599969insCA	ENSP00000171111:p.Arg536fs					KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Frame_Shift_Ins_p.R536fs	p.R536fs	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	1763_1764	-			536			Kelch 5.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Frame_Shift_Ins	INS	ENST00000171111.5	37	c.1607_1608insTG	CCDS12239.1																																																																																				0.574	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		11	27	NaN	NaN	NaN	NaN	NaN	11	27	---	---
ZNF513	130557	broad.mit.edu	37	2	27603057	27603058	+	Frame_Shift_Del	DEL	CA	CA	-	rs377077298		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:27603057_27603058delCA	ENST00000323703.6	-	2	311_312	c.113_114delTG	c.(112-114)ttgfs	p.L40fs	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_De_novo_Start_OutOfFrame	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	40					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTAGTAGCAAATCACTCTC	0.574																																						uc002rkk.2		NaN																	0				ovary(1)	1						c.(112-114)TTGfs		zinc finger protein 513																																				SO:0001589	frameshift_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27603057_27603058delCA	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.113_114delTG	2.37:g.27603057_27603058delCA	ENSP00000318373:p.Leu40fs					ZNF513_uc002rkj.2_5'UTR	p.L38fs	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			2	313_314	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		38					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Frame_Shift_Del	DEL	ENST00000323703.6	37	c.113_114delTG	CCDS1751.1																																																																																				0.574	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		47	153	NaN	NaN	NaN	NaN	NaN	47	153	---	---
GPR17	2840	broad.mit.edu	37	2	128408472	128408473	+	Frame_Shift_Ins	INS	-	-	T	rs17852981		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:128408472_128408473insT	ENST00000272644.3	+	3	321_322	c.247_248insT	c.(247-249)cttfs	p.L83fs	GPR17_ENST00000544369.1_Frame_Shift_Ins_p.L83fs|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410038.1_5'Flank|GPR17_ENST00000393018.3_Frame_Shift_Ins_p.L83fs	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	83				L -> F (in Ref. 5; AAH31653). {ECO:0000305}.	chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GGCTCTGTGGCTTTTCATCCGA	0.589																																						uc010yzn.1		NaN																	0					0						c.(247-249)CTTfs		G protein-coupled receptor 17 isoform a																																				SO:0001589	frameshift_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408472_128408473insT		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.251dupT	2.37:g.128408476_128408476dupT	ENSP00000272644:p.Leu83fs					LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Frame_Shift_Ins_p.L83fs|GPR17_uc010yzo.1_Frame_Shift_Ins_p.L55fs|GPR17_uc002tpd.2_Frame_Shift_Ins_p.L55fs	p.L83fs	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	858_859	+	Colorectal(110;0.1)	Ovarian(717;0.15)	83	L -> F (in Ref. 5; AAH31653).		Helical; Name=1; (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Frame_Shift_Ins	INS	ENST00000272644.3	37	c.247_248insT	CCDS2148.1																																																																																				0.589	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1				38	111	NaN	NaN	NaN	NaN	NaN	38	111	---	---
CERS6	253782	broad.mit.edu	37	2	169571567	169571572	+	In_Frame_Del	DEL	ATATGT	ATATGT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:169571567_169571572delATATGT	ENST00000305747.6	+	7	1253_1258	c.666_671delATATGT	c.(664-672)tcatatgtc>tcc	p.YV223del	CERS6_ENST00000392687.4_In_Frame_Del_p.YV223del	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	223	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTACCTTTTCATATGTCAACAATATG	0.374																																						uc002ueb.1		NaN																	0				skin(1)	1						c.(664-672)TCATATGTC>TCC		longevity assurance homolog 6																																				SO:0001651	inframe_deletion	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169571567_169571572delATATGT	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.666_671delATATGT	2.37:g.169571567_169571572delATATGT	ENSP00000306579:p.Tyr223_Val224del					LASS6_uc002uec.1_In_Frame_Del_p.YV223del	p.YV223del	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			7	790_795	+			223_224			Helical; (Potential).|TLC.		Q32M63|Q8N617	In_Frame_Del	DEL	ENST00000305747.6	37	c.666_671delATATGT	CCDS2228.1																																																																																				0.374	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2		NM_203463		104	186	NaN	NaN	NaN	NaN	NaN	104	186	---	---
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr2:192701073delC	ENST00000304141.4	-	2	1183	c.854delG	c.(853-855)ggafs	p.G285fs		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GGAGCTTTTTCCTGAGGATAT	0.458																																						uc002utb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(853-855)GGAfs		serum deprivation response protein	Phosphatidylserine(DB00144)						135.0	152.0	147.0					2																	192701073		2203	4300	6503	SO:0001589	frameshift_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701073delC	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.854delG	2.37:g.192701073delC	ENSP00000305675:p.Gly285fs						p.G285fs	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1184	-			285						Frame_Shift_Del	DEL	ENST00000304141.4	37	c.854delG	CCDS2313.1																																																																																				0.458	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2		NM_004657		130	291	NaN	NaN	NaN	NaN	NaN	130	291	---	---
ITGA9	3680	broad.mit.edu	37	3	37695244	37695257	+	Frame_Shift_Del	DEL	GCAGACCTGCAGCT	GCAGACCTGCAGCT	-	rs375412252		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:37695244_37695257delGCAGACCTGCAGCT	ENST00000264741.5	+	17	2135_2148	c.1879_1892delGCAGACCTGCAGCT	c.(1879-1893)gcagacctgcagcttfs	p.ADLQL627fs		NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	627					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGACTGTGCCGCAGACCTGCAGCTTCAGGGTAAA	0.505																																						uc003chd.2		NaN																	0				breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1879-1893)GCAGACCTGCAGCTTfs		integrin, alpha 9 precursor																																				SO:0001589	frameshift_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37695244_37695257delGCAGACCTGCAGCT	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1879_1892delGCAGACCTGCAGCT	3.37:g.37695244_37695257delGCAGACCTGCAGCT	ENSP00000264741:p.Ala627fs						p.A627fs	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	17	1932_1945	+			627_631			Extracellular (Potential).		Q14638	Frame_Shift_Del	DEL	ENST00000264741.5	37	c.1879_1892delGCAGACCTGCAGCT	CCDS2669.1																																																																																				0.505	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1		NM_002207		33	125	NaN	NaN	NaN	NaN	NaN	33	125	---	---
IMPG2	50939	broad.mit.edu	37	3	100964653	100964654	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:100964653_100964654insA	ENST00000193391.7	-	12	1722_1723	c.1535_1536insT	c.(1534-1536)gtafs	p.V512fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	512					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACCATCTTCTACCAAGTGAGA	0.436																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1534-1536)GTAfs		interphotoreceptor matrix proteoglycan 2																																				SO:0001589	frameshift_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964653_100964654insA	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1536dupT	3.37:g.100964654_100964654dupA	ENSP00000193391:p.Val512fs					IMPG2_uc011bhe.1_Frame_Shift_Ins_p.V375fs	p.V512fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			12	1738_1739	-			512			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Frame_Shift_Ins	INS	ENST00000193391.7	37	c.1535_1536insT	CCDS2940.1																																																																																				0.436	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				73	155	NaN	NaN	NaN	NaN	NaN	73	155	---	---
MORC1	27136	broad.mit.edu	37	3	108682419	108682419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr3:108682419delT	ENST00000483760.1	-	26	2621	c.2578delA	c.(2578-2580)atafs	p.I860fs	MORC1_ENST00000232603.5_Frame_Shift_Del_p.I881fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCTCTTTATTTTTTTTTCA	0.284																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(2641-2643)ATAfs		MORC family CW-type zinc finger 1							69.0	71.0	70.0					3																	108682419		2202	4297	6499	SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682419delT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2578delA	3.37:g.108682419delT	ENSP00000417282:p.Ile860fs					MORC1_uc011bhn.1_Frame_Shift_Del_p.I860fs	p.I881fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			27	2728	-			881						Frame_Shift_Del	DEL	ENST00000483760.1	37	c.2641delA																																																																																					0.284	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				17	160	NaN	NaN	NaN	NaN	NaN	17	160	---	---
RAD50	10111	broad.mit.edu	37	5	131915089	131915102	+	Frame_Shift_Del	DEL	CTGTGCTAAATAAT	CTGTGCTAAATAAT	-	rs138060491		TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chr5:131915089_131915102delCTGTGCTAAATAAT	ENST00000265335.6	+	4	833_846	c.446_459delCTGTGCTAAATAAT	c.(445-459)gctgtgctaaataatfs	p.AVLNN149fs	RAD50_ENST00000378823.3_Frame_Shift_Del_p.AVLNN10fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	149					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.V150A(1)|p.V11A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTCCAAGGCTGTGCTAAATAATGTCATTTTCT	0.374								Homologous recombination																														uc003kxi.2		NaN																	2	Substitution - Missense(2)		endometrium(2)	lung(2)|ovary(1)|skin(1)	4						c.(445-459)GCTGTGCTAAATAATfs	Homologous_recombination	RAD50 homolog isoform 1																																				SO:0001589	frameshift_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915089_131915102delCTGTGCTAAATAAT	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.446_459delCTGTGCTAAATAAT	5.37:g.131915089_131915102delCTGTGCTAAATAAT	ENSP00000265335:p.Ala149fs					RAD50_uc003kxg.1_Frame_Shift_Del_p.A50fs|RAD50_uc003kxh.2_Frame_Shift_Del_p.A10fs	p.A149fs	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	833_846	+		all_cancers(142;0.0368)|Breast(839;0.198)	149_153					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Frame_Shift_Del	DEL	ENST00000265335.6	37	c.446_459delCTGTGCTAAATAAT	CCDS34233.1																																																																																				0.374	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		19	78	NaN	NaN	NaN	NaN	NaN	19	78	---	---
KDM6A	7403	broad.mit.edu	37	X	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-DK-A1A3-01A-11D-A13W-08	TCGA-DK-A1A3-10A-01D-A13W-08			AAGT	-	AAGT	AAGT		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2322f7cd-7d55-4a9f-b7f3-da3068089383	4744adfd-2966-4a5b-81eb-1b47e2a0d293	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.618_619delAAGT	c.(616-621)gaaagt>gagt	p.S207fs	KDM6A_ENST00000382899.4_Splice_Site_p.S207fs|KDM6A_ENST00000543216.1_Splice_Site_p.S207fs|KDM6A_ENST00000536777.1_Splice_Site_p.S207fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	207	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAATGCTGAAAGTAAGTATTATT	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	p.0(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e7+1		ubiquitously transcribed tetratricopeptide																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44894229_44894232delAAGT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.619+1AAGT>-	X.37:g.44894233_44894236delAAGT						KDM6A_uc010nhk.2_Splice_Site_p.I207_splice|KDM6A_uc011mkz.1_Splice_Site_p.I207_splice|KDM6A_uc011mla.1_Splice_Site_p.I207_splice|KDM6A_uc011mlb.1_Splice_Site_p.I207_splice|KDM6A_uc011mlc.1_Splice_Site	p.I207_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			7	994	+								Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.619_splice	CCDS14265.1																																																																																				0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	Frame_Shift_Del	66	56	NaN	NaN	NaN	NaN	NaN	66	56	---	---
