#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FBXO44	93611	broad.mit.edu	37	1	11718444	11718444	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:11718444C>T	ENST00000251547.5	+	3	468	c.386C>T	c.(385-387)tCa>tTa	p.S129L	FBXO44_ENST00000376770.1_Missense_Mutation_p.S129L|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Intron	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	129	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTTACTTCATATTAGTAA	0.527																																						uc001asm.2		NA																	0				ovary(1)	1						c.(385-387)TCA>TTA		F-box protein 44 isoform 1							84.0	90.0	88.0					1																	11718444		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718444C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.386C>T	1.37:g.11718444C>T	ENSP00000251547:p.Ser129Leu					FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_Missense_Mutation_p.S129L|FBXO44_uc001asl.2_Missense_Mutation_p.S129L|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Intron|FBXO44_uc010oas.1_Intron	p.S129L	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	512	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	129			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.386C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495174	0.85069	.	.	ENSG00000132879	ENST00000376770;ENST00000251547	T;T	0.36699	1.24;1.24	5.39	5.39	0.77823	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	.	.	.	.	T	0.48447	0.1500	M	0.82823	2.61	0.52099	D	0.999945	P	0.48589	0.912	B	0.43331	0.416	T	0.56372	-0.7990	8	.	.	.	.	18.137	0.89622	0.0:1.0:0.0:0.0	.	129	Q9H4M3	FBX44_HUMAN	L	129	ENSP00000365961:S129L;ENSP00000251547:S129L	.	S	+	2	0	FBXO44	11641031	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.825000	0.75293	2.529000	0.85273	0.561000	0.74099	TCA		0.527	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		15	135	0	0	0	0	15	135				
PRAMEF11	440560	broad.mit.edu	37	1	12887625	12887625	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:12887625C>T	ENST00000535591.1	-	3	427	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	78					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCCATAGCTTCAGACCAAACC	0.473																																						uc001auk.2		NA																	0					0						c.(232-234)GAA>AAA		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887625C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.232G>A	1.37:g.12887625C>T	ENSP00000439551:p.Glu78Lys						p.E78K	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	428	-			78						Missense_Mutation	SNP	ENST00000535591.1	37	c.232G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.574287	0.45902	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04406	3.63;3.63	1.48	1.48	0.22813	.	0.628911	0.13238	N	0.403064	T	0.10121	0.0248	L	0.58101	1.795	0.09310	N	1	D	0.57899	0.981	P	0.54100	0.742	T	0.13953	-1.0490	10	0.72032	D	0.01	.	6.4564	0.21932	0.0:1.0:0.0:0.0	.	78	O60813	PRA11_HUMAN	K	78;119;78	ENSP00000439551:E78K;ENSP00000391839:E78K	ENSP00000328783:E119K	E	-	1	0	PRAMEF11	12810212	0.157000	0.22836	0.122000	0.21767	0.026000	0.11368	1.764000	0.38471	1.137000	0.42214	0.400000	0.26472	GAA		0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		18	365	0	0	0	0	18	365				
ECE1	1889	broad.mit.edu	37	1	21585219	21585219	+	Silent	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:21585219G>C	ENST00000374893.6	-	6	803	c.729C>G	c.(727-729)gcC>gcG	p.A243A	ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000415912.2_Silent_p.A227A	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572																																						uc001bek.2		NA																	0				ovary(2)|skin(1)	3						c.(727-729)GCC>GCG		endothelin converting enzyme 1 isoform 1							165.0	131.0	142.0					1																	21585219		2203	4300	6503	SO:0001819	synonymous_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21585219G>C	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.729C>G	1.37:g.21585219G>C						ECE1_uc001bem.2_Silent_p.A227A|ECE1_uc001bej.2_Silent_p.A231A|ECE1_uc001bei.2_Silent_p.A240A|ECE1_uc010odl.1_Silent_p.A243A|ECE1_uc009vqa.1_Silent_p.A243A	p.A243A	NM_001397	NP_001388	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	6	804	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	243			Extracellular (Potential).		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.729C>G	CCDS215.1																																																																																				0.572	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		8	115	0	0	0	0	8	115				
TMEM200B	399474	broad.mit.edu	37	1	29447769	29447769	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:29447769G>C	ENST00000420504.2	-	2	729	c.572C>G	c.(571-573)cCg>cGg	p.P191R	TMEM200B_ENST00000521452.1_Missense_Mutation_p.P191R	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	191	Pro-rich.					integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		ACGCGGGGACGGGTCCCAGAT	0.692																																						uc001brn.1		NA																	0					0						c.(571-573)CCG>CGG		transmembrane protein 200B							15.0	16.0	16.0					1																	29447769		2201	4297	6498	SO:0001583	missense	399474					integral to membrane		g.chr1:29447769G>C		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.572C>G	1.37:g.29447769G>C	ENSP00000428544:p.Pro191Arg						p.P191R	NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)	2	632	-		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	191			Pro-rich.		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	ENST00000420504.2	37	c.572C>G	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292727	0.23564	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	3.54	2.4	0.29515	.	0.525120	0.14044	U	0.345222	T	0.16811	0.0404	N	0.08118	0	0.22866	N	0.998634	B	0.15473	0.013	B	0.15484	0.013	T	0.22347	-1.0219	9	0.25751	T	0.34	.	6.3989	0.21628	0.6681:0.0:0.3319:0.0	.	191	Q69YZ2	T200B_HUMAN	R	191	.	ENSP00000428544:P191R	P	-	2	0	TMEM200B	29320356	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.753000	0.26376	0.539000	0.28788	-0.482000	0.04802	CCG		0.692	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		14	15	0	0	0	0	14	15				
SPATA6	54558	broad.mit.edu	37	1	48918776	48918776	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:48918776C>G	ENST00000371847.3	-	2	243	c.79G>C	c.(79-81)Gac>Cac	p.D27H	SPATA6_ENST00000371843.3_Missense_Mutation_p.D27H|SPATA6_ENST00000396199.3_5'UTR|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.D27H(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCTCTTTGTCTTTAAGCACG	0.388																																						uc001crr.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)	1						c.(79-81)GAC>CAC		spermatogenesis associated 6 precursor							132.0	125.0	127.0					1																	48918776		2203	4300	6503	SO:0001583	missense	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48918776C>G	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.79G>C	1.37:g.48918776C>G	ENSP00000360913:p.Asp27His					SPATA6_uc001crs.1_Missense_Mutation_p.D27H|SPATA6_uc010omv.1_Missense_Mutation_p.D27H|SPATA6_uc001crt.2_5'UTR	p.D27H	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			2	244	-			27					Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	c.79G>C	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309300	0.60414	.	.	ENSG00000132122	ENST00000371847;ENST00000371843	T;T	0.13089	2.64;2.62	5.12	5.12	0.69794	.	0.278938	0.34932	N	0.003565	T	0.28433	0.0703	L	0.41824	1.3	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.67382	0.951;0.951	T	0.00934	-1.1509	10	0.62326	D	0.03	.	16.0466	0.80724	0.0:1.0:0.0:0.0	.	27;27	Q9NWH7-2;Q9NWH7	.;SPAT6_HUMAN	H	27	ENSP00000360913:D27H;ENSP00000360909:D27H	ENSP00000360909:D27H	D	-	1	0	SPATA6	48691363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.465000	0.45075	2.407000	0.81776	0.555000	0.69702	GAC		0.388	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		49	87	0	0	0	0	49	87				
FUBP1	8880	broad.mit.edu	37	1	78428560	78428560	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:78428560C>G	ENST00000370768.2	-	14	1320	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	FUBP1_ENST00000436586.2_Missense_Mutation_p.Q434H|FUBP1_ENST00000370767.1_Missense_Mutation_p.Q413H	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	413	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGGATTTCTCTGAAGTTCTA	0.383			"""F, N"""		oligodendroglioma																																	uc001dii.2		NA		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					0				central_nervous_system(2)|lung(1)	3						c.(1237-1239)CAG>CAC		far upstream element-binding protein							135.0	131.0	132.0					1																	78428560		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.chr1:78428560C>G	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.1239G>C	1.37:g.78428560C>G	ENSP00000359804:p.Gln413His					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.Q434H	p.Q413H	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			14	1328	-			413			KH 4.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1239G>C	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360419	0.61403	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.29917	1.55;1.55;1.55	5.61	2.76	0.32466	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.41710	1.295	0.58432	D	0.999997	D;D	0.76494	0.999;0.995	D;D	0.77557	0.99;0.95	T	0.06643	-1.0815	10	0.59425	D	0.04	-4.1818	10.1822	0.42975	0.0:0.6692:0.0:0.3308	.	434;413	B4DT31;Q96AE4	.;FUBP1_HUMAN	H	412;413;413;412;434	ENSP00000359803:Q413H;ENSP00000359804:Q413H;ENSP00000389536:Q434H	ENSP00000294623:Q412H	Q	-	3	2	FUBP1	78201148	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.990000	0.29642	0.327000	0.23409	-0.137000	0.14449	CAG		0.383	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		31	242	0	0	0	0	31	242				
AGL	178	broad.mit.edu	37	1	100357191	100357191	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:100357191C>T	ENST00000294724.4	+	23	3457	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F	AGL_ENST00000361302.3_Silent_p.F977F|AGL_ENST00000361915.3_Silent_p.F993F|AGL_ENST00000370165.3_Silent_p.F993F|AGL_ENST00000370163.3_Silent_p.F993F|AGL_ENST00000361522.4_Silent_p.F976F|AGL_ENST00000370161.2_Silent_p.F977F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	993					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTATGTTCTTCTACCTGAAGC	0.363																																						uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2977-2979)TTC>TTT		amylo-1,6-glucosidase,							179.0	165.0	170.0					1																	100357191		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100357191C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2979C>T	1.37:g.100357191C>T						AGL_uc001dsj.1_Silent_p.F993F|AGL_uc001dsk.1_Silent_p.F993F|AGL_uc001dsl.1_Silent_p.F993F|AGL_uc001dsm.1_Silent_p.F977F|AGL_uc001dsn.1_Silent_p.F976F	p.F993F	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	23	3379	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	993			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.2979C>T	CCDS759.1																																																																																				0.363	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		32	205	0	0	0	0	32	205				
THBS3	7059	broad.mit.edu	37	1	155174872	155174872	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:155174872C>T	ENST00000368378.3	-	3	542	c.522G>A	c.(520-522)caG>caA	p.Q174Q	THBS3_ENST00000457183.2_Intron|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	174	Laminin G-like.				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.Q174Q(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)			AATACGCCTTCTGTCCAGTCC	0.577																																						uc001fix.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	breast(3)|ovary(2)	5						c.(520-522)CAG>CAA		thrombospondin 3 precursor							44.0	43.0	43.0					1																	155174872		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.chr1:155174872C>T	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.522G>A	1.37:g.155174872C>T						RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Q174Q|THBS3_uc001fiz.2_Silent_p.Q174Q|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Intron|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA|THBS3_uc009wqj.1_Silent_p.Q136Q	p.Q174Q	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)		3	545	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		174			TSP N-terminal.		B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.522G>A	CCDS1099.1																																																																																				0.577	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		21	43	0	0	0	0	21	43				
FCRLA	84824	broad.mit.edu	37	1	161677126	161677126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:161677126G>A	ENST00000236938.6	+	1	365	c.123G>A	c.(121-123)atG>atA	p.M41I	FCRLA_ENST00000367959.2_Missense_Mutation_p.M41I|FCRLA_ENST00000294796.4_Missense_Mutation_p.M24I|FCRLA_ENST00000540521.1_Missense_Mutation_p.M41I|FCRLA_ENST00000546024.1_Missense_Mutation_p.M41I|FCRLA_ENST00000367953.3_Missense_Mutation_p.M24I|FCRLA_ENST00000367949.2_Missense_Mutation_p.M41I|FCRLA_ENST00000350710.3_Missense_Mutation_p.M41I|FCRLA_ENST00000540926.1_Missense_Mutation_p.M24I|FCRLA_ENST00000349527.4_Missense_Mutation_p.M24I|FCRLA_ENST00000309691.6_Missense_Mutation_p.M24I|FCRLA_ENST00000367950.1_Start_Codon_SNP_p.M1I|FCRLA_ENST00000367957.2_Missense_Mutation_p.M41I	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	24					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGCCCAGATGCTACTGGGTA	0.502																																						uc001gbe.2		NA																	0					0						c.(121-123)ATG>ATA		Fc receptor-like and mucin-like 1							103.0	93.0	96.0					1																	161677126		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161677126G>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.123G>A	1.37:g.161677126G>A	ENSP00000236938:p.Met41Ile					FCRLA_uc001gbd.2_Missense_Mutation_p.M41I|FCRLA_uc001gbf.2_Missense_Mutation_p.M41I|FCRLA_uc001gbg.2_Missense_Mutation_p.M41I|FCRLA_uc009wuo.2_Missense_Mutation_p.M41I|FCRLA_uc009wup.2_Missense_Mutation_p.M41I|FCRLA_uc009wuq.2_Missense_Mutation_p.M41I	p.M41I	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		1	365	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		24					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.123G>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	6.252	0.414620	0.11870	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54479	5.71;5.71;4.6;4.25;0.81;0.57;5.74;4.36;3.89;4.65;4.28;5.74;0.66	5.08	3.23	0.37069	.	0.722511	0.13098	N	0.414019	T	0.16981	0.0408	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B;B	0.09022	0.001;0.002;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.003;0.003;0.005;0.0;0.002;0.001;0.003	T	0.20605	-1.0270	10	0.25751	T	0.34	.	7.7569	0.28930	0.1867:0.0:0.8133:0.0	.	41;41;41;41;41;41;41	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	I	41;41;41;41;41;41;24;41;24;24;24;24;1	ENSP00000236938:M41I;ENSP00000356936:M41I;ENSP00000439838:M41I;ENSP00000442870:M41I;ENSP00000356926:M41I;ENSP00000344808:M41I;ENSP00000446380:M24I;ENSP00000356934:M41I;ENSP00000294798:M24I;ENSP00000309596:M24I;ENSP00000294796:M24I;ENSP00000356930:M24I;ENSP00000356927:M1I	ENSP00000236938:M41I	M	+	3	0	FCRLA	159943750	0.029000	0.19370	0.005000	0.12908	0.067000	0.16453	1.168000	0.31859	0.853000	0.35312	0.655000	0.94253	ATG		0.502	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		4	120	0	0	0	0	4	120				
NCF2	4688	broad.mit.edu	37	1	183546795	183546795	+	Missense_Mutation	SNP	C	C	G	rs137854515		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:183546795C>G	ENST00000367535.3	-	3	556	c.305G>C	c.(304-306)cGa>cCa	p.R102P	NCF2_ENST00000418089.1_Missense_Mutation_p.R102P|NCF2_ENST00000413720.1_Missense_Mutation_p.R102P|NCF2_ENST00000367536.1_Missense_Mutation_p.R102P	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	102			R -> P (in CGD2; dbSNP:rs137854515). {ECO:0000269|PubMed:20167518}.		aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	CTGGTTCCCTCGAAGCTGAAT	0.488																																						uc001gqj.3		NA																	0				ovary(3)	3						c.(304-306)CGA>CCA		neutrophil cytosolic factor 2							109.0	107.0	108.0					1																	183546795		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183546795C>G	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.305G>C	1.37:g.183546795C>G	ENSP00000356505:p.Arg102Pro					NCF2_uc010pod.1_Missense_Mutation_p.R102P|NCF2_uc010poe.1_Missense_Mutation_p.R102P|NCF2_uc001gqk.3_Missense_Mutation_p.R102P	p.R102P	NM_000433	NP_000424	P19878	NCF2_HUMAN			3	580	-			102			TPR 2.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.305G>C	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246016	0.80024	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.113416	0.64402	D	0.000014	D	0.84570	0.5501	M	0.89095	3.005	0.31138	N	0.706958	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.76575	0.988;0.982;0.911	D	0.86125	0.1571	10	0.87932	D	0	-15.6735	16.6438	0.85155	0.0:1.0:0.0:0.0	.	102;102;102	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	P	102;130;102;102;102	ENSP00000356506:R102P;ENSP00000399294:R102P;ENSP00000407217:R102P;ENSP00000356505:R102P	ENSP00000356505:R102P	R	-	2	0	NCF2	181813418	1.000000	0.71417	0.927000	0.36925	0.982000	0.71751	5.538000	0.67193	2.669000	0.90835	0.655000	0.94253	CGA		0.488	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		24	181	0	0	0	0	24	181				
CACNA1S	779	broad.mit.edu	37	1	201016272	201016272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:201016272G>A	ENST00000362061.3	-	38	4865	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1528W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1547					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTTGGGCCGATAGCCATAA	0.517																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4639-4641)CGG>TGG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						181.0	172.0	175.0					1																	201016272		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201016272G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4639C>T	1.37:g.201016272G>A	ENSP00000355192:p.Arg1547Trp						p.R1547W	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			38	4866	-			1547			Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4639C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.397805	0.83120	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96334	-3.98;-3.91	5.47	4.54	0.55810	.	0.355762	0.33199	N	0.005170	D	0.97037	0.9032	L	0.43152	1.355	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.72032	D	0.01	.	16.2218	0.82265	0.0:0.1333:0.8667:0.0	.	1547	Q13698	CAC1S_HUMAN	W	1547;1528	ENSP00000355192:R1547W;ENSP00000356307:R1528W	ENSP00000355192:R1547W	R	-	1	2	CACNA1S	199282895	1.000000	0.71417	0.948000	0.38648	0.752000	0.42762	5.387000	0.66243	1.285000	0.44548	0.655000	0.94253	CGG		0.517	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		90	205	0	0	0	0	90	205				
NAV1	89796	broad.mit.edu	37	1	201777960	201777960	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:201777960G>A	ENST00000367296.4	+	20	4588	c.4168G>A	c.(4168-4170)Gca>Aca	p.A1390T	NAV1_ENST00000295624.6_Missense_Mutation_p.A1387T|NAV1_ENST00000367302.1_Missense_Mutation_p.A1343T|NAV1_ENST00000367297.4_Missense_Mutation_p.A1382T|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.A996T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.A1330T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1390					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTAGGCCTGGCACTCACCCA	0.562																																						uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(4159-4161)GCA>ACA		neuron navigator 1							75.0	71.0	72.0					1																	201777960		2202	4300	6502	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201777960G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4168G>A	1.37:g.201777960G>A	ENSP00000356265:p.Ala1390Thr					NAV1_uc001gwx.2_Missense_Mutation_p.A996T	p.A1387T	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			19	4506	+			1390					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.4159G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	g	12.53	1.964788	0.34659	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.06849	3.25;3.26;3.26;3.26;3.25;3.26	5.65	3.78	0.43462	.	0.545383	0.20230	N	0.096516	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.37079	-0.9721	10	0.46703	T	0.11	-6.2184	1.8245	0.03118	0.23:0.1389:0.4875:0.1436	.	996;1387	Q8NEY1-5;Q8NEY1-3	.;.	T	1343;1390;1387;1382;1330;996	ENSP00000356271:A1343T;ENSP00000356265:A1390T;ENSP00000295624:A1387T;ENSP00000356266:A1382T;ENSP00000356269:A1330T;ENSP00000356264:A996T	ENSP00000295624:A1387T	A	+	1	0	NAV1	200044583	0.016000	0.18221	0.058000	0.19502	0.934000	0.57294	0.941000	0.29005	0.753000	0.32945	0.546000	0.68486	GCA		0.562	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		6	304	0	0	0	0	6	304				
KCNH1	3756	broad.mit.edu	37	1	211192356	211192356	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:211192356G>A	ENST00000271751.4	-	6	828	c.801C>T	c.(799-801)ctC>ctT	p.L267L	KCNH1_ENST00000367007.4_Silent_p.L267L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	267					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TATGAAAATTGAGCACAATGT	0.453																																						uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(799-801)CTC>CTT		potassium voltage-gated channel, subfamily H,							181.0	169.0	173.0					1																	211192356		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192356G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.801C>T	1.37:g.211192356G>A						KCNH1_uc001hic.2_Silent_p.L267L	p.L267L	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	971	-			267			Helical; Name=Segment S2; (Potential).		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.801C>T	CCDS1496.1																																																																																				0.453	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		21	159	0	0	0	0	21	159				
RYR2	6262	broad.mit.edu	37	1	237868594	237868594	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:237868594A>G	ENST00000366574.2	+	67	9848	c.9531A>G	c.(9529-9531)aaA>aaG	p.K3177K	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.K3161K|RYR2_ENST00000360064.6_Silent_p.K3175K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3177					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K3175K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTGGACAAACATAATATTT	0.388																																						uc001hyl.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9529-9531)AAA>AAG		cardiac muscle ryanodine receptor							103.0	94.0	97.0					1																	237868594		1881	4123	6004	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237868594A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9531A>G	1.37:g.237868594A>G						RYR2_uc010pxz.1_Silent_p.K132K	p.K3177K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		67	9651	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3177					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9531A>G	CCDS55691.1																																																																																				0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	17	0	0	0	0	16	17				
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:8115874C>G	ENST00000346208.3	+	6	1675	c.1220C>G	c.(1219-1221)tCg>tGg	p.S407W	GATA3_ENST00000379328.3_Missense_Mutation_p.S408W|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	407					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		5	Insertion - Frameshift(5)		breast(5)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1219-1221)TCG>TGG		GATA binding protein 3 isoform 2							94.0	86.0	89.0					10																	8115874		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115874C>G	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1220C>G	10.37:g.8115874C>G	ENSP00000341619:p.Ser407Trp					GATA3_uc001ijz.2_Missense_Mutation_p.S408W	p.S407W	NM_002051	NP_002042	P23771	GATA3_HUMAN			6	1777	+			407					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1220C>G	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755869	0.69648	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96685	-4.09;-4.07	5.26	5.26	0.73747	.	0.097993	0.45126	D	0.000383	D	0.95172	0.8435	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.63113	0.759;0.911	D	0.96859	0.9631	10	0.66056	D	0.02	-16.9879	18.8714	0.92317	0.0:1.0:0.0:0.0	.	407;408	P23771;P23771-2	GATA3_HUMAN;.	W	408;407	ENSP00000368632:S408W;ENSP00000341619:S407W	ENSP00000341619:S407W	S	+	2	0	GATA3	8155880	1.000000	0.71417	0.803000	0.32268	0.996000	0.88848	6.040000	0.70980	2.447000	0.82792	0.462000	0.41574	TCG		0.602	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		3	107	0	0	0	0	3	107				
ARHGAP21	57584	broad.mit.edu	37	10	24884722	24884722	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:24884722T>C	ENST00000396432.2	-	19	4122	c.3636A>G	c.(3634-3636)aaA>aaG	p.K1212K	ARHGAP21_ENST00000320481.6_Silent_p.K999K|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1211	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AATCTCGCCATTTCTAGGTGT	0.353																																						uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.(3634-3636)AAA>AAG		Rho GTPase activating protein 21							67.0	67.0	67.0					10																	24884722		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24884722T>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3636A>G	10.37:g.24884722T>C						ARHGAP21_uc010qdb.1_RNA	p.K1212K	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			19	4123	-			1211			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.3636A>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812127	0.50527	.	.	ENSG00000107863	ENST00000418033	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.71476	0.3344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70876	-0.4753	4	.	.	.	.	15.4899	0.75597	0.0:0.0:0.0:1.0	.	.	.	.	V	26	.	.	M	-	1	0	ARHGAP21	24924728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.174000	0.71943	2.125000	0.65367	0.533000	0.62120	ATG		0.353	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		17	71	0	0	0	0	17	71				
SLC18A3	6572	broad.mit.edu	37	10	50819671	50819671	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642																																						uc001jhw.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)	2						c.(883-885)GCC>GCT		vesicular acetylcholine transporter							64.0	61.0	62.0					10																	50819671		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819671C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.885C>T	10.37:g.50819671C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.A295A	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1325	+			295			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.885C>T	CCDS7231.1																																																																																				0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		17	108	0	0	0	0	17	108				
SGMS1	259230	broad.mit.edu	37	10	52071137	52071137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:52071137C>T	ENST00000361781.2	-	9	1739	c.780G>A	c.(778-780)atG>atA	p.M260I	SGMS1_ENST00000429490.1_Missense_Mutation_p.M91I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	266					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAATGAGCTTCATTATTCTTC	0.463																																						uc001jje.2		NA																	0				ovary(1)|kidney(1)	2						c.(778-780)ATG>ATA		sphingomyelin synthase 1							106.0	75.0	85.0					10																	52071137		2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52071137C>T	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.780G>A	10.37:g.52071137C>T	ENSP00000354829:p.Met260Ile					SGMS1_uc010qhk.1_Missense_Mutation_p.M91I|SGMS1_uc009xot.1_RNA	p.M260I	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN			9	1734	-			266					Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.780G>A	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966787	0.74131	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	T	0.40225	1.04	5.87	5.87	0.94306	.	0.038169	0.85682	D	0.000000	T	0.31827	0.0809	N	0.16656	0.425	0.80722	D	1	B;B	0.24533	0.105;0.013	B;B	0.24006	0.05;0.017	T	0.05162	-1.0902	10	0.40728	T	0.16	-12.3169	18.0718	0.89410	0.0:1.0:0.0:0.0	.	91;266	B4DJU2;Q86VZ5	.;SMS1_HUMAN	I	60;260;91	ENSP00000354829:M260I	ENSP00000354829:M260I	M	-	3	0	SGMS1	51741143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.026000	0.70873	2.941000	0.99782	0.655000	0.94253	ATG		0.463	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		10	73	0	0	0	0	10	73				
VCL	7414	broad.mit.edu	37	10	75874638	75874638	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:75874638G>C	ENST00000211998.4	+	21	3333	c.3239G>C	c.(3238-3240)aGt>aCt	p.S1080T	VCL_ENST00000417648.2_Missense_Mutation_p.S273T|VCL_ENST00000372755.3_Missense_Mutation_p.S1012T	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1080	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ACCAACATCAGTGATGAGGAG	0.483																																						uc001jwd.2		NA																VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(3238-3240)AGT>ACT		vinculin isoform meta-VCL							89.0	79.0	83.0					10																	75874638		2203	4299	6502	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75874638G>C	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3239G>C	10.37:g.75874638G>C	ENSP00000211998:p.Ser1080Thr					VCL_uc009xrr.2_Missense_Mutation_p.S761T|VCL_uc001jwe.2_Missense_Mutation_p.S1012T|VCL_uc010qkz.1_Missense_Mutation_p.S273T	p.S1080T	NM_014000	NP_054706	P18206	VINC_HUMAN			21	3333	+	Prostate(51;0.0112)		1080			C-terminal tail.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.3239G>C	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995760	0.74703	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000537043;ENST00000436396	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.87	5.87	0.94306	.	0.079680	0.85682	D	0.000000	T	0.60586	0.2280	L	0.61036	1.89	0.80722	D	1	B;P;B;B	0.43392	0.014;0.805;0.038;0.383	B;P;B;P	0.57548	0.013;0.823;0.088;0.58	T	0.48636	-0.9018	10	0.28530	T	0.3	.	20.2032	0.98269	0.0:0.0:1.0:0.0	.	273;939;1012;1080	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	T	1012;1080;273;939;752	ENSP00000361841:S1012T;ENSP00000211998:S1080T;ENSP00000411887:S273T;ENSP00000415489:S752T	ENSP00000211998:S1080T	S	+	2	0	VCL	75544644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.785000	0.95823	0.650000	0.86243	AGT		0.483	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		2	7	0	0	0	0	2	7				
KIF11	3832	broad.mit.edu	37	10	94376578	94376578	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:94376578G>A	ENST00000260731.3	+	9	1207	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	373					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCAAAAAAGCTCTTATTAA	0.323																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NA																	0				skin(1)	1						c.(1117-1119)GCT>ACT		kinesin family member 11							94.0	97.0	96.0					10																	94376578		2203	4296	6499	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94376578G>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1117G>A	10.37:g.94376578G>A	ENSP00000260731:p.Ala373Thr					KIF11_uc010qnq.1_Intron	p.A373T	NM_004523	NP_004514	P52732	KIF11_HUMAN			9	1425	+			373			Potential.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1117G>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525036	0.64747	.	.	ENSG00000138160	ENST00000260731	T	0.74209	-0.82	6.08	6.08	0.98989	.	0.054776	0.64402	D	0.000001	T	0.68915	0.3053	N	0.25485	0.75	0.53688	D	0.999974	P	0.49559	0.925	P	0.45138	0.471	T	0.65105	-0.6249	10	0.25751	T	0.34	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	373	P52732	KIF11_HUMAN	T	373	ENSP00000260731:A373T	ENSP00000260731:A373T	A	+	1	0	KIF11	94366558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.259000	0.72494	2.894000	0.99253	0.591000	0.81541	GCT		0.323	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		16	89	0	0	0	0	16	89				
PYROXD2	84795	broad.mit.edu	37	10	100167372	100167372	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:100167372C>T	ENST00000370575.4	-	4	330	c.282G>A	c.(280-282)ctG>ctA	p.L94L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	94							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGCGGCCTCAGCAGGCTGA	0.607																																						uc001kpc.2		NA																	0				central_nervous_system(1)	1						c.(280-282)CTG>CTA		pyridine nucleotide-disulphide oxidoreductase							41.0	47.0	45.0					10																	100167372		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100167372C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.282G>A	10.37:g.100167372C>T						PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Silent_p.L94L	p.L94L	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN			4	368	-			94					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.282G>A	CCDS7474.1																																																																																				0.607	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		6	45	0	0	0	0	6	45				
ATRNL1	26033	broad.mit.edu	37	10	116889158	116889158	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:116889158A>G	ENST00000355044.3	+	5	816	c.690A>G	c.(688-690)caA>caG	p.Q230Q	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Silent_p.Q230Q	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	230	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCCAAGTCAAGTATATTGTG	0.373																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(688-690)CAA>CAG		attractin-like 1 precursor							160.0	149.0	153.0					10																	116889158		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:116889158A>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.690A>G	10.37:g.116889158A>G						ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.Q230Q|ATRNL1_uc009xyq.2_Silent_p.Q230Q	p.Q230Q	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	5	1076	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	230			EGF-like 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.690A>G	CCDS7592.1																																																																																				0.373	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		6	115	0	0	0	0	6	115				
C10orf82	143379	broad.mit.edu	37	10	118425270	118425270	+	Silent	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:118425270G>T	ENST00000369210.3	-	3	177	c.123C>A	c.(121-123)acC>acA	p.T41T	C10orf82_ENST00000588184.1_Silent_p.T41T	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	41										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TCTCCTGGAAGGTTTTCACAC	0.532																																						uc001lcr.2		NA																	0					0						c.(121-123)ACC>ACA		hypothetical protein LOC143379							109.0	105.0	106.0					10																	118425270		2203	4300	6503	SO:0001819	synonymous_variant	143379							g.chr10:118425270G>T	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.123C>A	10.37:g.118425270G>T						C10orf82_uc001lcs.1_Silent_p.T41T	p.T41T	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	3	178	-			41					B3KUM9|D3DRC3	Silent	SNP	ENST00000369210.3	37	c.123C>A	CCDS7596.1																																																																																				0.532	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		11	103	1	0	0.00136819	0.0014251	11	103				
IKZF5	64376	broad.mit.edu	37	10	124753991	124753991	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:124753991G>A	ENST00000368886.5	-	5	885	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTATAGCCCAGATTGCTTGTT	0.413																																						uc001lha.2		NA																	0					0						c.(565-567)CTG>TTG		zinc finger protein, subfamily 1A, 5							245.0	225.0	231.0					10																	124753991		1900	4118	6018	SO:0001819	synonymous_variant	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124753991G>A	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.565C>T	10.37:g.124753991G>A						IKZF5_uc001lgz.2_Silent_p.L27L	p.L189L	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	864	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	189					B3KVH7|D3DRE7|Q9H2T0	Silent	SNP	ENST00000368886.5	37	c.565C>T	CCDS41574.1																																																																																				0.413	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		43	279	0	0	0	0	43	279				
DCHS1	8642	broad.mit.edu	37	11	6643167	6643167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:6643167G>A	ENST00000299441.3	-	21	10151	c.9740C>T	c.(9739-9741)tCa>tTa	p.S3247L	TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3247					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3247L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCAGCTGAGGACAGGGA	0.632																																						uc001mem.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(9739-9741)TCA>TTA		dachsous 1 precursor							61.0	56.0	58.0					11																	6643167		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643167G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9740C>T	11.37:g.6643167G>A	ENSP00000299441:p.Ser3247Leu					TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	p.S3247L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	10150	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3247			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9740C>T	CCDS7771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.077860|4.077860	0.76528|0.76528	.|.	.|.	ENSG00000166341|ENSG00000166341	ENST00000442153|ENST00000299441	.|T	.|0.59772	.|0.24	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.35805	.|N	.|0.002976	.|T	.|0.75759	.|0.3893	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.63488	.|0.915	.|T	.|0.78831	.|-0.2049	.|10	0.87932|0.59425	D|D	0|0.04	.|.	17.0523|17.0523	0.86523|0.86523	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3247	.|Q96JQ0	.|PCD16_HUMAN	X|L	7|3247	.|ENSP00000299441:S3247L	ENSP00000390601:Q7X|ENSP00000299441:S3247L	Q|S	-|-	1|2	0|0	DCHS1|DCHS1	6599743|6599743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.559000|9.559000	0.98135|0.98135	2.595000|2.595000	0.87683|0.87683	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	20	0	0	0	0	8	20				
NAV2	89797	broad.mit.edu	37	11	20067214	20067214	+	Silent	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:20067214C>A	ENST00000396087.3	+	15	4068	c.3969C>A	c.(3967-3969)cgC>cgA	p.R1323R	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.R1254R|NAV2_ENST00000396085.1_Silent_p.R1300R|NAV2_ENST00000311043.8_Silent_p.R386R|NAV2_ENST00000527559.2_Silent_p.R1252R|NAV2_ENST00000533917.1_Silent_p.R386R|NAV2_ENST00000360655.4_Silent_p.R1236R|NAV2_ENST00000349880.4_Silent_p.R1300R	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1323					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACACTCCGCAGGTAAGTGA	0.517																																						uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(3967-3969)CGC>CGA		neuron navigator 2 isoform 2							36.0	36.0	36.0					11																	20067214		2203	4296	6499	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20067214C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3969C>A	11.37:g.20067214C>A						NAV2_uc001mpp.2_Silent_p.R1236R|NAV2_uc001mpr.3_Silent_p.R1300R|NAV2_uc001mpt.2_Silent_p.R386R|NAV2_uc009yhx.2_Silent_p.R386R|NAV2_uc009yhy.1_Silent_p.R299R	p.R1323R	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			15	4330	+			1323					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.3969C>A	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		16	39	1	0	5.01e-05	5.32e-05	16	39				
ANO3	63982	broad.mit.edu	37	11	26552873	26552873	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:26552873C>T	ENST00000256737.3	+	8	1711	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ANO3_ENST00000525139.1_Missense_Mutation_p.R271W|ANO3_ENST00000537978.1_Missense_Mutation_p.R271W|ANO3_ENST00000531568.1_Missense_Mutation_p.R141W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	287					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGCCGTGCACGGATTCACCA	0.453																																						uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(859-861)CGG>TGG		transmembrane protein 16C							136.0	125.0	129.0					11																	26552873		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26552873C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.859C>T	11.37:g.26552873C>T	ENSP00000256737:p.Arg287Trp					ANO3_uc010rdr.1_Missense_Mutation_p.R271W|ANO3_uc010rds.1_Missense_Mutation_p.R126W|ANO3_uc010rdt.1_Missense_Mutation_p.R141W	p.R287W	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			8	1004	+			287			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.859C>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027954	0.75390	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.54	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87402	0.2370	10	0.87932	D	0	.	14.3469	0.66672	0.1922:0.8078:0.0:0.0	.	189;287	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	W	271;271;287;189;141	ENSP00000440737:R271W;ENSP00000432576:R271W;ENSP00000256737:R287W;ENSP00000432394:R141W	ENSP00000256737:R287W	R	+	1	2	ANO3	26509449	0.998000	0.40836	0.815000	0.32552	0.844000	0.47949	3.871000	0.56077	1.132000	0.42129	0.557000	0.71058	CGG		0.453	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		4	180	0	0	0	0	4	180				
TNKS1BP1	85456	broad.mit.edu	37	11	57080450	57080450	+	Missense_Mutation	SNP	G	G	A	rs370520637		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:57080450G>A	ENST00000532437.1	-	4	2023	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P571L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	571	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGTAGGCAGGGGCTCAAGGGG	0.597																																						uc001njr.2		NA																	0				skin(1)	1						c.(1711-1713)CCC>CTC		tankyrase 1-binding protein 1		G	LEU/PRO	0,4402		0,0,2201	73.0	72.0	72.0		1712	2.1	0.0	11		72	1,8591	1.2+/-3.3	0,1,4295	no	missense	TNKS1BP1	NM_033396.2	98	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	571/1730	57080450	1,12993	2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080450G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1712C>T	11.37:g.57080450G>A	ENSP00000437271:p.Pro571Leu					TNKS1BP1_uc001njs.2_Missense_Mutation_p.P571L|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.P22L	p.P571L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	2024	-		all_epithelial(135;0.21)	571			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.1712C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647644	0.47258	0.0	1.16E-4	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34072	1.38;1.38	3.17	2.12	0.27331	.	1.790650	0.03509	N	0.219273	T	0.27900	0.0687	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22068	-1.0227	10	0.56958	D	0.05	0.0233	6.133	0.20215	0.2401:0.0:0.7599:0.0	.	571	Q9C0C2	TB182_HUMAN	L	571	ENSP00000350990:P571L;ENSP00000437271:P571L	ENSP00000350990:P571L	P	-	2	0	TNKS1BP1	56837026	0.408000	0.25360	0.002000	0.10522	0.121000	0.20230	2.798000	0.47884	1.627000	0.50400	0.462000	0.41574	CCC		0.597	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		21	74	0	0	0	0	21	74				
CCDC87	55231	broad.mit.edu	37	11	66358149	66358149	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66358149C>G	ENST00000333861.3	-	1	2405	c.2338G>C	c.(2338-2340)Gag>Cag	p.E780Q	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	780					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAAGAAGACTCCATTAAGTTG	0.498																																						uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(2338-2340)GAG>CAG		coiled-coil domain containing 87							133.0	139.0	137.0					11																	66358149		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358149C>G	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2338G>C	11.37:g.66358149C>G	ENSP00000328487:p.Glu780Gln					CCS_uc001oir.2_5'Flank	p.E780Q	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2406	-			780					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2338G>C	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064813	0.20067	.	.	ENSG00000182791	ENST00000333861	T	0.30981	1.51	5.6	4.68	0.58851	.	0.155678	0.29806	N	0.011153	T	0.30541	0.0768	L	0.45581	1.43	0.18873	N	0.999981	P	0.45212	0.853	B	0.43889	0.435	T	0.10543	-1.0625	10	0.33940	T	0.23	.	12.3815	0.55309	0.0:0.818:0.182:0.0	.	780	Q9NVE4	CCD87_HUMAN	Q	780	ENSP00000328487:E780Q	ENSP00000328487:E780Q	E	-	1	0	CCDC87	66114725	0.145000	0.22656	0.169000	0.22859	0.149000	0.21700	1.507000	0.35758	1.352000	0.45808	0.561000	0.74099	GAG		0.498	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		43	237	0	0	0	0	43	237				
CCDC87	55231	broad.mit.edu	37	11	66358638	66358638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66358638C>T	ENST00000333861.3	-	1	1916	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	617					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACCTCTTCTTCATGCATTTGA	0.468																																						uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(1849-1851)GAA>AAA		coiled-coil domain containing 87							117.0	115.0	116.0					11																	66358638		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358638C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1849G>A	11.37:g.66358638C>T	ENSP00000328487:p.Glu617Lys					CCS_uc001oir.2_5'Flank	p.E617K	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1917	-			617					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1849G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794335	0.50102	.	.	ENSG00000182791	ENST00000333861	T	0.34667	1.35	5.05	3.01	0.34805	.	0.388853	0.19317	N	0.117253	T	0.44350	0.1289	M	0.68317	2.08	0.30577	N	0.762941	D	0.52996	0.957	P	0.50537	0.643	T	0.51004	-0.8760	10	0.51188	T	0.08	-13.5958	10.834	0.46677	0.0:0.5962:0.4038:0.0	.	617	Q9NVE4	CCD87_HUMAN	K	617	ENSP00000328487:E617K	ENSP00000328487:E617K	E	-	1	0	CCDC87	66115214	0.958000	0.32768	0.997000	0.53966	0.375000	0.29983	0.168000	0.16622	1.291000	0.44653	0.462000	0.41574	GAA		0.468	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		44	144	0	0	0	0	44	144				
PC	5091	broad.mit.edu	37	11	66619400	66619400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66619400C>T	ENST00000393958.2	-	15	1936	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.A615T|PC_ENST00000393955.2_Missense_Mutation_p.A615T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	615	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGCGCATGGCGACGTCAAAC	0.637																																						uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1843-1845)GCC>ACC		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						47.0	45.0	46.0					11																	66619400		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619400C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1843G>A	11.37:g.66619400C>T	ENSP00000377530:p.Ala615Thr					PC_uc001ojo.1_Missense_Mutation_p.A615T|PC_uc001ojp.1_Missense_Mutation_p.A615T|PC_uc001ojm.1_5'Flank	p.A615T	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	14	1892	-		Melanoma(852;0.0525)	615			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1843G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727151	0.89390	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98419	-4.92;-4.92;-4.92	4.56	3.6	0.41247	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.98455	1.0593	10	0.72032	D	0.01	-30.2132	11.8665	0.52496	0.174:0.826:0.0:0.0	.	615	P11498	PYC_HUMAN	T	615	ENSP00000377527:A615T;ENSP00000377530:A615T;ENSP00000377532:A615T	ENSP00000377527:A615T	A	-	1	0	PC	66375976	1.000000	0.71417	0.308000	0.25141	0.989000	0.77384	5.520000	0.67080	2.372000	0.80975	0.561000	0.74099	GCC		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		7	37	0	0	0	0	7	37				
SUV420H1	51111	broad.mit.edu	37	11	67925239	67925239	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:67925239C>G	ENST00000304363.4	-	11	2927	c.2574G>C	c.(2572-2574)ttG>ttC	p.L858F		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	858					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.L858F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTAACCTCAAGCGCTTAG	0.403																																						uc001onm.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|kidney(1)	3						c.(2572-2574)TTG>TTC		suppressor of variegation 4-20 homolog 1 isoform							61.0	62.0	62.0					11																	67925239		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925239C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2574G>C	11.37:g.67925239C>G	ENSP00000305899:p.Leu858Phe					SUV420H1_uc009yse.1_Missense_Mutation_p.L444F|SUV420H1_uc001onn.1_Missense_Mutation_p.L686F|SUV420H1_uc009ysf.2_Missense_Mutation_p.L618F	p.L858F	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2830	-			858					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2574G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943944	0.53079	.	.	ENSG00000110066	ENST00000304363	T	0.64085	-0.08	5.71	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66999	-0.5781	10	0.87932	D	0	-13.6599	6.601	0.22701	0.0:0.6606:0.147:0.1923	.	858	Q4FZB7	SV421_HUMAN	F	858	ENSP00000305899:L858F	ENSP00000305899:L858F	L	-	3	2	SUV420H1	67681815	0.995000	0.38212	0.884000	0.34674	0.983000	0.72400	0.375000	0.20518	1.434000	0.47414	0.491000	0.48974	TTG		0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		17	73	0	0	0	0	17	73				
FUT4	2526	broad.mit.edu	37	11	94278550	94278550	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:94278550G>A	ENST00000358752.2	+	1	1534	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	417					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.Q417H(1)		central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAACTCGCAGCACCTGGATT	0.652																																						uc001pez.2		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(1249-1251)CAG>CAA		fucosyltransferase 4							35.0	34.0	34.0					11																	94278550		2201	4296	6497	SO:0001819	synonymous_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278550G>A		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"""CD molecules"", ""Fucosyltransferases"""	4015	protein-coding gene	gene with protein product	"""ELAM ligand fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.1251G>A	11.37:g.94278550G>A						PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	p.Q417Q	NM_002033	NP_002024	P22083	FUT4_HUMAN			1	1534	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	417			Lumenal (Potential).		B2RMS0	Silent	SNP	ENST00000358752.2	37	c.1251G>A	CCDS8301.1																																																																																				0.652	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		3	39	0	0	0	0	3	39				
ZBTB16	7704	broad.mit.edu	37	11	114027138	114027138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:114027138C>T	ENST00000335953.4	+	3	1728	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	ZBTB16_ENST00000392996.2_Missense_Mutation_p.H450Y	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	450					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTGAGAATGCACTTACTGGC	0.547																																						uc001pop.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1348-1350)CAC>TAC		promyelocytic leukemia zinc finger protein							158.0	117.0	131.0					11																	114027138		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114027138C>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1348C>T	11.37:g.114027138C>T	ENSP00000338157:p.His450Tyr					ZBTB16_uc001poo.1_Missense_Mutation_p.H450Y|ZBTB16_uc001poq.2_Missense_Mutation_p.H450Y	p.H450Y	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	3	1612	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	450			C2H2-type 2.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1348C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534656	0.85812	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.35048	1.33;1.33	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061993	0.64402	D	0.000005	T	0.76364	0.3977	H	0.98754	4.32	0.54753	D	0.999988	P;D	0.63880	0.928;0.993	P;D	0.72982	0.475;0.979	D	0.86980	0.2103	10	0.87932	D	0	-11.9948	18.0741	0.89422	0.0:1.0:0.0:0.0	.	450;455	Q05516;Q59H43	ZBT16_HUMAN;.	Y	450;450;327	ENSP00000338157:H450Y;ENSP00000376721:H450Y	ENSP00000309507:H327Y	H	+	1	0	ZBTB16	113532348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.500000	0.84329	0.655000	0.94253	CAC		0.547	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		8	51	0	0	0	0	8	51				
TECTA	7007	broad.mit.edu	37	11	120996298	120996298	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:120996298G>C	ENST00000392793.1	+	8	1762	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	TECTA_ENST00000264037.2_Missense_Mutation_p.W497C			O75443	TECTA_HUMAN	tectorin alpha	497	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGCAGACTGGAAGTGCGACT	0.587																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(1489-1491)TGG>TGC		tectorin alpha precursor							78.0	81.0	80.0					11																	120996298		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996298G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1491G>C	11.37:g.120996298G>C	ENSP00000376543:p.Trp497Cys						p.W497C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1491	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	497			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1491G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928590	0.34002	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36157	1.27;1.27	5.02	5.02	0.67125	von Willebrand factor, type D domain (1);	0.134219	0.53938	D	0.000048	T	0.41971	0.1182	L	0.40543	1.245	0.52501	D	0.999953	D	0.65815	0.995	P	0.52514	0.701	T	0.14337	-1.0476	10	0.38643	T	0.18	.	15.7874	0.78319	0.0:0.1361:0.8638:0.0	.	497	O75443	TECTA_HUMAN	C	497	ENSP00000376543:W497C;ENSP00000264037:W497C	ENSP00000264037:W497C	W	+	3	0	TECTA	120501508	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	2.670000	0.46833	2.511000	0.84671	0.563000	0.77884	TGG		0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		30	96	0	0	0	0	30	96				
NRIP2	83714	broad.mit.edu	37	12	2939891	2939891	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:2939891G>A	ENST00000337508.4	-	2	518	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	160					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)	p.L160F(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TTGACCAGAAGAGCTGGAATC	0.572																																						uc001qlc.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(478-480)CTT>TTT		nuclear receptor interacting protein 2							114.0	93.0	100.0					12																	2939891		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2939891G>A	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.478C>T	12.37:g.2939891G>A	ENSP00000337501:p.Leu160Phe					NRIP2_uc010sed.1_Missense_Mutation_p.L160F	p.L160F	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		2	550	-			160					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.478C>T	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172556	0.78452	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	T	0.61627	0.09	5.53	5.53	0.82687	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.64402	D	0.000016	T	0.75583	0.3869	M	0.73598	2.24	0.45554	D	0.9985	D	0.89917	1.0	D	0.85130	0.997	T	0.78183	-0.2303	10	0.87932	D	0	-12.8464	14.9464	0.71035	0.0:0.0:1.0:0.0	.	160	Q9BQI9	NRIP2_HUMAN	F	160;149;110;110	ENSP00000337501:L160F	ENSP00000337501:L160F	L	-	1	0	NRIP2	2810152	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.033000	0.57282	2.590000	0.87494	0.585000	0.79938	CTT		0.572	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		32	62	0	0	0	0	32	62				
CLEC4C	170482	broad.mit.edu	37	12	7883477	7883477	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:7883477G>T	ENST00000542353.1	-	6	903	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	CLEC4C_ENST00000354629.5_Missense_Mutation_p.S107Y|CLEC4C_ENST00000540085.1_Missense_Mutation_p.S107Y|CLEC4C_ENST00000360345.3_Missense_Mutation_p.S138Y	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S138Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAAATAAGAAGAATTTCTTTT	0.463																																						uc001qtg.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|large_intestine(1)	ovary(2)|skin(1)	3						c.(412-414)TCT>TAT		C-type lectin domain family 4, member C isoform							76.0	77.0	77.0					12																	7883477		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7883477G>T	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.413C>A	12.37:g.7883477G>T	ENSP00000440428:p.Ser138Tyr					CLEC4C_uc001qth.1_Missense_Mutation_p.S138Y|CLEC4C_uc001qti.1_Missense_Mutation_p.S107Y	p.S138Y	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	5	587	-			138			Extracellular (Potential).|C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.413C>A	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.650483	0.00785	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	1.88	-0.336	0.12658	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.26629	0.0651	L	0.46885	1.475	0.09310	N	1	D;D	0.62365	0.991;0.983	P;P	0.62184	0.899;0.759	T	0.23691	-1.0181	9	0.12103	T	0.63	.	5.8537	0.18708	0.0:0.0:0.4414:0.5586	.	107;138	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	Y	138;107;107;138;60;98	ENSP00000440428:S138Y;ENSP00000346648:S107Y;ENSP00000445338:S107Y;ENSP00000353500:S138Y;ENSP00000438649:S60Y;ENSP00000442457:S98Y	ENSP00000346648:S107Y	S	-	2	0	CLEC4C	7774744	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.505000	0.06367	-0.091000	0.12440	0.561000	0.74099	TCT		0.463	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		52	106	1	0	2.17e-26	2.47e-26	52	106				
TMEM106C	79022	broad.mit.edu	37	12	48359698	48359698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:48359698C>T	ENST00000429772.2	+	4	442	c.329C>T	c.(328-330)tCa>tTa	p.S110L	TMEM106C_ENST00000449758.2_Missense_Mutation_p.S110L|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.S39L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.S110L|TMEM106C_ENST00000256686.6_Missense_Mutation_p.S110L|TMEM106C_ENST00000550552.1_Missense_Mutation_p.S110L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	110						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S110L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TTTCCGCATTCAGTCCTTGTG	0.448																																						uc001rqp.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(328-330)TCA>TTA		transmembrane protein 106C isoform a							372.0	336.0	348.0					12																	48359698		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48359698C>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.329C>T	12.37:g.48359698C>T	ENSP00000400471:p.Ser110Leu					TMEM106C_uc001rqo.2_Missense_Mutation_p.S110L|TMEM106C_uc001rqr.2_Missense_Mutation_p.S110L|TMEM106C_uc001rqq.2_Missense_Mutation_p.S110L	p.S110L	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	4	444	+		Acute lymphoblastic leukemia(13;0.11)	110					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.329C>T	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864810	0.91511	.	.	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	4.48	4.48	0.54585	.	0.144592	0.47455	D	0.000224	T	0.41213	0.1149	M	0.72894	2.215	0.50467	D	0.999878	P;P	0.49185	0.92;0.902	P;B	0.45712	0.491;0.359	T	0.49194	-0.8965	10	0.87932	D	0	-2.7439	16.9603	0.86271	0.0:1.0:0.0:0.0	.	110;110	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	L	110;110;39;110;110;110;39	ENSP00000256686:S110L;ENSP00000446657:S110L;ENSP00000448268:S39L;ENSP00000449737:S110L;ENSP00000400471:S110L;ENSP00000402705:S110L;ENSP00000447254:S39L	ENSP00000256686:S110L	S	+	2	0	TMEM106C	46645965	0.992000	0.36948	0.975000	0.42487	0.990000	0.78478	6.838000	0.75359	2.779000	0.95612	0.655000	0.94253	TCA		0.448	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		200	368	0	0	0	0	200	368				
COL2A1	1280	broad.mit.edu	37	12	48388219	48388219	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P199P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGCGGACCCCTTT	0.557																																						uc001rqu.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(802-804)CCG>CCA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						128.0	105.0	113.0					12																	48388219		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48388219C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.804G>A	12.37:g.48388219C>T						COL2A1_uc001rqv.2_Silent_p.P199P	p.P268P	NM_001844	NP_001835	P02458	CO2A1_HUMAN			12	985	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	268			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.804G>A	CCDS41778.1																																																																																				0.557	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		16	53	0	0	0	0	16	53				
ANO4	121601	broad.mit.edu	37	12	101493406	101493406	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:101493406C>A	ENST00000392977.3	+	22	2267	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H	ANO4_ENST00000299222.9_Missense_Mutation_p.P206H|ANO4_ENST00000392979.3_Missense_Mutation_p.P651H|ANO4_ENST00000550015.1_Missense_Mutation_p.P206H			Q32M45	ANO4_HUMAN	anoctamin 4	686					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)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2056-2058)CCT>CAT		anoctamin 4							107.0	108.0	108.0					12																	101493406		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101493406C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2057C>A	12.37:g.101493406C>A	ENSP00000376703:p.Pro686His	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.P651H|ANO4_uc001thx.2_Missense_Mutation_p.P686H|ANO4_uc001thy.2_Missense_Mutation_p.P206H	p.P686H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			22	2629	+			686			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2057C>A		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262940	0.39995	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.59	5.59	0.84812	.	0.479691	0.22090	N	0.064765	T	0.49898	0.1584	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29571	0.003;0.103;0.249	B;B;B	0.32022	0.002;0.139;0.136	T	0.49799	-0.8901	10	0.48119	T	0.1	.	12.8711	0.57965	0.0:0.9256:0.0:0.0744	.	206;686;651	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	651;206;686;206	ENSP00000376705:P651H;ENSP00000299222:P206H;ENSP00000376703:P686H;ENSP00000450192:P206H	ENSP00000299222:P206H	P	+	2	0	ANO4	100017537	0.145000	0.22656	0.624000	0.29186	0.828000	0.46876	3.062000	0.49971	2.630000	0.89119	0.650000	0.86243	CCT		0.363	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		48	84	1	0	2.13e-23	2.42e-23	48	84				
NAA25	80018	broad.mit.edu	37	12	112492280	112492280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:112492280G>A	ENST00000261745.4	-	14	1788	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	514						cytoplasm (GO:0005737)		p.R514*(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						CAGTAGATTCGAACAAGCAGC	0.478																																						uc001ttm.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1540-1542)CGA>TGA		mitochondrial distribution and morphology 20							132.0	110.0	117.0					12																	112492280		2203	4300	6503	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112492280G>A	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.1540C>T	12.37:g.112492280G>A	ENSP00000261745:p.Arg514*					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R486*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R514*	p.R514*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			14	1560	-			514					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.1540C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	40	8.063590	0.98635	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.5	4.59	0.56863	.	0.074422	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4957	15.4288	0.75075	0.0:0.0:0.8598:0.1401	.	.	.	.	X	514	.	ENSP00000261745:R514X	R	-	1	2	NAA25	110976663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.318000	0.96334	1.273000	0.44346	0.655000	0.94253	CGA		0.478	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		21	86	0	0	0	0	21	86				
OAS2	4939	broad.mit.edu	37	12	113445710	113445710	+	Silent	SNP	C	C	T	rs45514594	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:113445710C>T	ENST00000342315.4	+	9	2071	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	OAS2_ENST00000392583.2_Silent_p.T619T|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	619	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGATGAGACCGTGAGGAAGT	0.483													C|||	6	0.00119808	0.0	0.0014	5008	,	,		21371	0.0		0.004	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NA																	0				ovary(1)	1						c.(1855-1857)ACC>ACT		2'-5'-oligoadenylate synthetase 2 isoform 1		C	,	2,4404		0,2,2201	150.0	146.0	148.0		1857,1857	-8.5	0.0	12	dbSNP_127	148	50,8550		0,50,4250	no	coding-synonymous,coding-synonymous	OAS2	NM_002535.2,NM_016817.2	,	0,52,6451	TT,TC,CC		0.5814,0.0454,0.3998	,	619/688,619/720	113445710	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113445710C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1857C>T	12.37:g.113445710C>T						OAS2_uc001tui.1_Silent_p.T619T	p.T619T	NM_016817	NP_058197	P29728	OAS2_HUMAN			9	1997	+			619			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.1857C>T	CCDS31906.1																																																																																				0.483	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			5	322	0	0	0	0	5	322				
TRIAP1	51499	broad.mit.edu	37	12	120884532	120884532	+	5'Flank	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:120884532G>A	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Missense_Mutation_p.R83Q|GATC_ENST00000551765.1_Missense_Mutation_p.E52K|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)	p.E52K(1)				all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAGCCGCGAGGCAGTGGC	0.672																																						uc010szi.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(154-156)GAG>AAG		glutamyl-tRNA(Gln) amidotransferase, subunit C							32.0	36.0	35.0					12																	120884532		2200	4298	6498	SO:0001631	upstream_gene_variant	283459				regulation of translational fidelity			g.chr12:120884532G>A		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884532G>A	Exception_encountered					TRIAP1_uc001tyg.2_5'Flank	p.E52K	NM_176818	NP_789788	O43716	GATCL_HUMAN			2	154	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		52					B2R4Z7|Q5RKS5|Q6LCA7	Missense_Mutation	SNP	ENST00000546954.1	37	c.154G>A	CCDS9198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.020532|5.020532	0.93462|0.93462	.|.	.|.	ENSG00000257218|ENSG00000111780	ENST00000551765|ENST00000551806	T|.	0.47869|.	0.83|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.055407|.	0.64402|.	D|.	0.000001|.	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.67517|0.67517	2.055|2.055	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.55172|.	0.97|.	P|.	0.49683|.	0.619|.	T|T	0.67741|0.67741	-0.5592|-0.5592	10|6	0.42905|0.23891	T|T	0.14|0.37	-26.5237|-26.5237	18.736|18.736	0.91755|0.91755	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	52|.	O43716|.	GATC_HUMAN|.	K|Q	52|83	ENSP00000446872:E52K|.	ENSP00000448397:E52K|ENSP00000450281:R83Q	E|R	+|+	1|2	0|0	AL021546.1|GATC	119368915|119368915	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.508000|0.508000	0.34012|0.34012	6.850000|6.850000	0.75420|0.75420	2.646000|2.646000	0.89796|0.89796	0.644000|0.644000	0.83932|0.83932	GAG|CGA		0.672	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3	NM_016399		16	38	0	0	0	0	16	38				
GPR133	283383	broad.mit.edu	37	12	131593382	131593382	+	Silent	SNP	G	G	A	rs60880996	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:131593382G>A	ENST00000261654.5	+	18	2560	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	GPR133_ENST00000543617.1_Silent_p.S186S|GPR133_ENST00000535015.1_Silent_p.S699S|GPR133_ENST00000376682.4_Silent_p.S353S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	667					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.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607													G|||	11	0.00219649	0.0076	0.0	5008	,	,		12714	0.001		0.0	False		,,,				2504	0.0					uc001uit.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1999-2001)TCG>TCA		G protein-coupled receptor 133 precursor		G		17,4389	24.3+/-50.5	0,17,2186	149.0	135.0	140.0		2001	-9.6	0.1	12	dbSNP_129	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR133	NM_198827.3		0,18,6485	AA,AG,GG		0.0116,0.3858,0.1384		667/875	131593382	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593382G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2001G>A	12.37:g.131593382G>A						GPR133_uc010tbm.1_Silent_p.S699S|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.2_RNA	p.S667S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2560	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		667			Cytoplasmic (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2001G>A	CCDS9272.1																																																																																				0.607	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		73	141	0	0	0	0	73	141				
CARS2	79587	broad.mit.edu	37	13	111340150	111340150	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr13:111340150C>T	ENST00000257347.4	-	5	552	c.489G>A	c.(487-489)ctG>ctA	p.L163L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	163					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGGTTACCCTCAGGTACACCG	0.483																																						uc001vrd.2		NA																	0					0						c.(487-489)CTG>CTA		cysteinyl-tRNA synthetase 2, mitochondrial	L-Cysteine(DB00151)						142.0	147.0	145.0					13																	111340150		2203	4300	6503	SO:0001819	synonymous_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340150C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.489G>A	13.37:g.111340150C>T						CARS2_uc010tjm.1_RNA	p.L163L	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	529	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		163					Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	c.489G>A	CCDS9514.1																																																																																				0.483	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		42	176	0	0	0	0	42	176				
OR4E2	26686	broad.mit.edu	37	14	22133750	22133750	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:22133750G>A	ENST00000408935.1	+	1	454	c.454G>A	c.(454-456)Ggt>Agt	p.G152S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGGTTGGGGGGTACTGTTCA	0.478																																						uc010tmd.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(454-456)GGT>AGT		olfactory receptor, family 4, subfamily E,							159.0	155.0	156.0					14																	22133750		2000	4178	6178	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133750G>A		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.454G>A	14.37:g.22133750G>A	ENSP00000386195:p.Gly152Ser						p.G152S	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	454	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	152			Helical; Name=4; (Potential).		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.454G>A	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413008	0.42817	.	.	ENSG00000221977	ENST00000408935	T	0.32988	1.43	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	U	0.001530	T	0.51822	0.1697	M	0.67953	2.075	0.09310	N	1	D	0.60160	0.987	P	0.61477	0.889	T	0.45614	-0.9249	10	0.42905	T	0.14	.	17.4947	0.87714	0.0:0.0:1.0:0.0	.	152	Q8NGC2	OR4E2_HUMAN	S	152	ENSP00000386195:G152S	ENSP00000386195:G152S	G	+	1	0	OR4E2	21203590	0.015000	0.18098	0.088000	0.20740	0.458000	0.32498	1.865000	0.39479	2.730000	0.93505	0.585000	0.79938	GGT		0.478	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			35	219	0	0	0	0	35	219				
PRMT5	10419	broad.mit.edu	37	14	23395383	23395383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:23395383G>A	ENST00000324366.8	-	7	959	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.L140F|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.L202F|PRMT5_ENST00000397441.2_Missense_Mutation_p.L229F|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.L185F|PRMT5_ENST00000553641.1_5'UTR	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	246	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.L246F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATCTTAGAAAGAACAGGAAAT	0.478																																						uc001whm.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(736-738)CTT>TTT		protein arginine methyltransferase 5 isoform a							128.0	129.0	129.0					14																	23395383		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395383G>A	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.736C>T	14.37:g.23395383G>A	ENSP00000319169:p.Leu246Phe					PRMT5_uc001whl.1_Missense_Mutation_p.L229F|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.L140F|PRMT5_uc010tng.1_Missense_Mutation_p.L185F|PRMT5_uc010tnh.1_Missense_Mutation_p.L202F|PRMT5_uc001whn.1_Intron	p.L246F	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	827	-	all_cancers(95;2.76e-05)		246					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.736C>T	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819847	0.90873	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.92604	3.325	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;1.0;1.0;0.99	D	0.88980	0.3407	9	0.66056	D	0.02	-13.7776	18.472	0.90778	0.0:0.0:1.0:0.0	.	202;185;246;229	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	F	246;229;185;140;202;141	.	ENSP00000216350:L185F	L	-	1	0	PRMT5	22465223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.609000	0.61148	2.724000	0.93272	0.561000	0.74099	CTT		0.478	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			49	133	0	0	0	0	49	133				
MYH6	4624	broad.mit.edu	37	14	23858700	23858700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:23858700C>T	ENST00000356287.3	-	27	3909	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K	MYH6_ENST00000405093.3_Missense_Mutation_p.E1294K|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1294					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTTTCCTCTAGCTGCCGG	0.587																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(3880-3882)GAG>AAG		myosin heavy chain 6							64.0	65.0	64.0					14																	23858700		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858700C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3880G>A	14.37:g.23858700C>T	ENSP00000348634:p.Glu1294Lys					uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	p.E1294K	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	28	3947	-	all_cancers(95;2.54e-05)		1294			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3880G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.016406	0.93404	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80566	-1.39;-1.39	4.63	4.63	0.57726	Myosin tail (1);	.	.	.	.	D	0.88202	0.6373	M	0.93720	3.45	0.52501	D	0.999952	B	0.34255	0.445	B	0.40782	0.34	D	0.90747	0.4654	9	0.72032	D	0.01	.	17.8701	0.88808	0.0:1.0:0.0:0.0	.	1294	P13533	MYH6_HUMAN	K	1294	ENSP00000386041:E1294K;ENSP00000348634:E1294K	ENSP00000348634:E1294K	E	-	1	0	MYH6	22928540	1.000000	0.71417	0.981000	0.43875	0.865000	0.49528	7.634000	0.83273	2.280000	0.76307	0.655000	0.94253	GAG		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			9	159	0	0	0	0	9	159				
CMA1	1215	broad.mit.edu	37	14	24976609	24976609	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:24976609G>C	ENST00000250378.3	-	2	191	c.162C>G	c.(160-162)ttC>ttG	p.F54L	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTCTTATAAGGAAACCACCAC	0.483																																						uc001wpp.1		NA																	0					0						c.(160-162)TTC>TTG		chymase 1, mast cell preproprotein							147.0	142.0	144.0					14																	24976609		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24976609G>C		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.162C>G	14.37:g.24976609G>C	ENSP00000250378:p.Phe54Leu					CMA1_uc010alx.1_Intron	p.F54L	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	2	192	-			54			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.162C>G	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677400	0.68042	.	.	ENSG00000092009	ENST00000250378	D	0.89270	-2.49	5.01	-0.205	0.13196	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.51477	D	0.000090	D	0.90584	0.7048	L	0.55213	1.73	0.24593	N	0.993817	D	0.89917	1.0	D	0.91635	0.999	T	0.82814	-0.0271	10	0.59425	D	0.04	.	7.9403	0.29955	0.4658:0.0:0.5342:0.0	.	54	P23946	CMA1_HUMAN	L	54	ENSP00000250378:F54L	ENSP00000250378:F54L	F	-	3	2	CMA1	24046449	1.000000	0.71417	0.090000	0.20809	0.235000	0.25334	0.767000	0.26575	-0.125000	0.11703	-0.140000	0.14226	TTC		0.483	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			58	273	0	0	0	0	58	273				
DAAM1	23002	broad.mit.edu	37	14	59819342	59819342	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:59819342G>C	ENST00000395125.1	+	18	2312	c.2289G>C	c.(2287-2289)gaG>gaC	p.E763D	DAAM1_ENST00000351081.1_Missense_Mutation_p.E763D|DAAM1_ENST00000360909.3_Missense_Mutation_p.E753D|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	763	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.E763D(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCCTTTTTGAGATGAGCCGGT	0.398																																						uc001xdz.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(2287-2289)GAG>GAC		dishevelled-associated activator of							117.0	103.0	108.0					14																	59819342		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59819342G>C	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2289G>C	14.37:g.59819342G>C	ENSP00000378557:p.Glu763Asp					DAAM1_uc001xea.1_Missense_Mutation_p.E753D|DAAM1_uc001xec.1_5'Flank	p.E763D	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	19	2414	+			763			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2289G>C	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136254	0.56936	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.18810	2.19;2.19;2.19	6.04	5.16	0.70880	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	M	0.66506	2.035	0.80722	D	1	P;D	0.55605	0.904;0.972	P;D	0.63192	0.816;0.912	T	0.12967	-1.0527	10	0.25751	T	0.34	.	9.9929	0.41883	0.1907:0.0:0.8093:0.0	.	753;763	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	D	753;763;763;763	ENSP00000354162:E753D;ENSP00000247170:E763D;ENSP00000378557:E763D	ENSP00000247170:E763D	E	+	3	2	DAAM1	58889095	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.089000	0.50183	1.568000	0.49683	0.563000	0.77884	GAG		0.398	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		15	46	0	0	0	0	15	46				
ACTC1	70	broad.mit.edu	37	15	35086908	35086908	+	Silent	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:35086908C>A	ENST00000290378.4	-	2	757	c.102G>T	c.(100-102)ccG>ccT	p.P34P	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	34					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.P34P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCACGATGGACGGGAAGACAG	0.682																																						uc001ziu.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(100-102)CCG>CCT		cardiac muscle alpha actin 1 proprotein							27.0	31.0	29.0					15																	35086908		2195	4289	6484	SO:0001819	synonymous_variant	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086908C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.102G>T	15.37:g.35086908C>A						uc001zit.1_Intron	p.P34P	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	345	-		all_lung(180;2.3e-08)	34					P04270	Silent	SNP	ENST00000290378.4	37	c.102G>T	CCDS10041.1																																																																																				0.682	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		20	82	1	0	3.52e-12	3.92e-12	20	82				
DUOX1	53905	broad.mit.edu	37	15	45426426	45426426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:45426426C>T	ENST00000321429.4	+	5	633	c.226C>T	c.(226-228)Cga>Tga	p.R76*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R76*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	76	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.R76G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCAACCCCCGAGACCTTAG	0.627																																						uc001zus.1		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(5)|skin(2)|breast(1)	8						c.(226-228)CGA>TGA		dual oxidase 1 precursor							41.0	45.0	44.0					15																	45426426		2198	4298	6496	SO:0001587	stop_gained	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45426426C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.226C>T	15.37:g.45426426C>T	ENSP00000317997:p.Arg76*					DUOX1_uc001zut.1_Nonsense_Mutation_p.R76*|DUOX1_uc010bee.1_5'UTR	p.R76*	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	5	572	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	76			Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	c.226C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353420	0.61293	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	5.01	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6459	11.334	0.49492	0.5088:0.4912:0.0:0.0	.	.	.	.	X	76	.	ENSP00000317997:R76X	R	+	1	2	DUOX1	43213718	0.986000	0.35501	0.963000	0.40424	0.356000	0.29392	2.480000	0.45206	0.771000	0.33359	-0.169000	0.13324	CGA		0.627	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		18	144	0	0	0	0	18	144				
UNC13C	440279	broad.mit.edu	37	15	54306794	54306794	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:54306794C>T	ENST00000260323.11	+	1	1694	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S565L|UNC13C_ENST00000545554.1_Missense_Mutation_p.S565L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	565					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAGATTTTTCAGAAAATCAG	0.423																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(1693-1695)TCA>TTA		unc-13 homolog C							47.0	46.0	46.0					15																	54306794		1833	4093	5926	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306794C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1694C>T	15.37:g.54306794C>T	ENSP00000260323:p.Ser565Leu						p.S565L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1694	+			565					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1694C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838940	0.71373	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84146	-1.81;-1.81;-1.81	5.17	5.17	0.71159	.	.	.	.	.	T	0.77096	0.4080	L	0.27053	0.805	0.51482	D	0.999923	P	0.43094	0.799	B	0.35039	0.194	T	0.81812	-0.0761	9	0.87932	D	0	.	17.8213	0.88651	0.0:1.0:0.0:0.0	.	565	Q8NB66	UN13C_HUMAN	L	565	ENSP00000260323:S565L;ENSP00000438156:S565L;ENSP00000442569:S565L	ENSP00000260323:S565L	S	+	2	0	UNC13C	52094086	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.317000	0.79018	2.684000	0.91462	0.655000	0.94253	TCA		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		9	74	0	0	0	0	9	74				
AAGAB	79719	broad.mit.edu	37	15	67528335	67528335	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:67528335C>T	ENST00000261880.5	-	4	537	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AAGAB_ENST00000542650.1_Missense_Mutation_p.E36K|AAGAB_ENST00000561452.1_Missense_Mutation_p.E36K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	145					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCAGGCAACTCCTCTGGACTA	0.353																																						uc002aqk.3		NA																	0					0						c.(433-435)GAG>AAG		alpha- and gamma-adaptin-binding protein p34							177.0	155.0	162.0					15																	67528335		1870	4115	5985	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67528335C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.433G>A	15.37:g.67528335C>T	ENSP00000261880:p.Glu145Lys					AAGAB_uc002aql.2_Missense_Mutation_p.E36K|AAGAB_uc010uju.1_Missense_Mutation_p.E36K	p.E145K	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN			4	538	-			145					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.433G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501759	0.96371	.	.	ENSG00000103591	ENST00000261880;ENST00000542650	T;T	0.49139	0.79;0.81	5.48	5.48	0.80851	.	0.046038	0.85682	D	0.000000	T	0.48909	0.1526	M	0.62723	1.935	0.80722	D	1	P	0.45768	0.866	B	0.41666	0.363	T	0.43015	-0.9417	10	0.19147	T	0.46	-22.177	19.702	0.96059	0.0:1.0:0.0:0.0	.	145	Q6PD74	AAGAB_HUMAN	K	145;36	ENSP00000261880:E145K;ENSP00000440735:E36K	ENSP00000261880:E145K	E	-	1	0	AAGAB	65315389	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.160000	0.77495	2.738000	0.93877	0.591000	0.81541	GAG		0.353	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		40	236	0	0	0	0	40	236				
MEX3B	84206	broad.mit.edu	37	15	82336383	82336383	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:82336383G>A	ENST00000329713.4	-	2	1263	c.828C>T	c.(826-828)ccC>ccT	p.P276P	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	276					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GCTTGCGGCCGGGGGTGGGCG	0.662																																						uc002bgq.1		NA																	0				breast(1)|kidney(1)	2						c.(826-828)CCC>CCT		mex-3 homolog B							18.0	24.0	22.0					15																	82336383		2184	4277	6461	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336383G>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.828C>T	15.37:g.82336383G>A							p.P276P	NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN			2	1143	-			276					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.828C>T	CCDS10319.1																																																																																				0.662	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		10	46	0	0	0	0	10	46				
ALPK3	57538	broad.mit.edu	37	15	85400161	85400161	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:85400161G>A	ENST00000258888.5	+	6	2965	c.2798G>A	c.(2797-2799)aGc>aAc	p.S933N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	933					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGCAACCAGCCTCGGCCCA	0.582																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2797-2799)AGC>AAC		alpha-kinase 3							94.0	103.0	100.0					15																	85400161		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400161G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2798G>A	15.37:g.85400161G>A	ENSP00000258888:p.Ser933Asn						p.S933N	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2965	+			933					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.2798G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981746	0.34942	.	.	ENSG00000136383	ENST00000258888	T	0.61040	0.14	4.57	-1.32	0.09201	.	6.176410	0.00496	U	0.000150	T	0.46132	0.1377	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17837	-1.0356	10	0.39692	T	0.17	-0.04	4.9152	0.13842	0.4084:0.1505:0.4411:0.0	.	933	Q96L96	ALPK3_HUMAN	N	933	ENSP00000258888:S933N	ENSP00000258888:S933N	S	+	2	0	ALPK3	83201165	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-0.146000	0.10250	-0.317000	0.08677	0.591000	0.81541	AGC		0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		27	158	0	0	0	0	27	158				
HAGH	3029	broad.mit.edu	37	16	1859322	1859322	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:1859322G>A	ENST00000397356.3	-	9	1295	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	HAGH_ENST00000566709.1_3'UTR|HAGH_ENST00000455446.2_3'UTR|HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R249C	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	297	Substrate binding.				glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTCTCCCTGCGCACGGCCCGC	0.652																																					Pancreas(55;1048 1176 25227 40124 41333)	uc002cna.2		NA																	0				ovary(1)	1						c.(889-891)CGC>TGC		hydroxyacylglutathione hydrolase isoform 1	Glutathione(DB00143)						125.0	110.0	115.0					16																	1859322		2199	4300	6499	SO:0001583	missense	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1859322G>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.889C>T	16.37:g.1859322G>A	ENSP00000380514:p.Arg297Cys					HAGH_uc002cmz.2_Missense_Mutation_p.R249C|HAGH_uc010uvp.1_3'UTR|HAGH_uc002cnb.1_3'UTR	p.R297C	NM_005326	NP_005317	Q16775	GLO2_HUMAN			9	1296	-		Hepatocellular(780;0.00335)	297			Substrate.		A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	c.889C>T	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011192	0.54361	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.96459	-4.02;-4.02	4.98	4.98	0.66077	.	0.064955	0.64402	D	0.000010	D	0.98280	0.9430	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	D	0.98548	1.0635	10	0.52906	T	0.07	-12.815	13.2658	0.60133	0.0:0.0:0.8308:0.1692	.	297	Q16775	GLO2_HUMAN	C	297;249	ENSP00000380514:R297C;ENSP00000380511:R249C	ENSP00000380511:R249C	R	-	1	0	HAGH	1799323	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.860000	0.55995	2.476000	0.83614	0.555000	0.69702	CGC		0.652	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		7	269	0	0	0	0	7	269				
PKMYT1	9088	broad.mit.edu	37	16	3024073	3024073	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:3024073G>T	ENST00000262300.8	-	7	1746	c.1238C>A	c.(1237-1239)cCg>cAg	p.P413Q	PKMYT1_ENST00000574730.1_Missense_Mutation_p.P344Q|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P404Q|PKMYT1_ENST00000431515.2_Missense_Mutation_p.P413Q|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P404Q|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P413Q	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	413	Interaction with PIN1.				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)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAGCCAGGCGGGGTGGCTGG	0.677																																						uc002csn.2		NA																	0				stomach(1)	1						c.(1237-1239)CCG>CAG		protein kinase Myt1 isoform 1							20.0	22.0	21.0					16																	3024073		2192	4297	6489	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3024073G>T	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1238C>A	16.37:g.3024073G>T	ENSP00000262300:p.Pro413Gln					PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P413Q|PKMYT1_uc002cso.2_Missense_Mutation_p.P344Q|PKMYT1_uc002csp.2_Missense_Mutation_p.P404Q|PKMYT1_uc002csq.2_Missense_Mutation_p.P404Q|PKMYT1_uc010bsy.1_Missense_Mutation_p.P404Q	p.P413Q	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			7	1681	-			413			Interaction with PIN1.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.1238C>A	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537692	0.65085	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.59083	1.73;1.73;1.73;0.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	L	0.29908	0.895	0.48511	D	0.999668	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.68239	-0.5461	10	0.54805	T	0.06	-25.008	16.9392	0.86211	0.0:0.0:1.0:0.0	.	404;344;413;413	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	Q	413;413;413;413;404	ENSP00000392855:P413Q;ENSP00000262300:P413Q;ENSP00000397739:P413Q;ENSP00000371675:P404Q	ENSP00000262300:P413Q	P	-	2	0	PKMYT1	2964074	1.000000	0.71417	0.922000	0.36590	0.762000	0.43233	4.495000	0.60353	2.586000	0.87340	0.655000	0.94253	CCG		0.677	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		5	28	1	0	1.24e-05	1.32e-05	5	28				
MEFV	4210	broad.mit.edu	37	16	3293683	3293683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:3293683G>T	ENST00000219596.1	-	10	1843	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.L422M|MEFV_ENST00000536379.1_Missense_Mutation_p.L391M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	602	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCTGCATCCAGAATCACATTA	0.498																																						uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(1804-1806)CTG>ATG		Mediterranean fever protein	Colchicine(DB01394)						135.0	147.0	143.0					16																	3293683		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293683G>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1804C>A	16.37:g.3293683G>T	ENSP00000219596:p.Leu602Met						p.L602M	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	1844	-			602			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1804C>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268325	0.40095	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.37915	1.17;1.17;1.17	5.3	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.36444	N	0.002596	T	0.57301	0.2044	M	0.83774	2.66	0.27902	N	0.938945	D	0.76494	0.999	D	0.74348	0.983	T	0.55490	-0.8133	10	0.72032	D	0.01	-19.958	6.482	0.22067	0.0942:0.0:0.7262:0.1797	.	602	O15553	MEFV_HUMAN	M	602;602;422;391	ENSP00000219596:L602M;ENSP00000339639:L422M;ENSP00000445079:L391M	ENSP00000219596:L602M	L	-	1	2	MEFV	3233684	1.000000	0.71417	0.919000	0.36401	0.754000	0.42855	2.815000	0.48018	1.335000	0.45486	0.650000	0.86243	CTG		0.498	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		64	375	1	0	5.82e-37	6.65e-37	64	375				
KIAA0430	9665	broad.mit.edu	37	16	15733071	15733071	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:15733071G>T	ENST00000396368.3	-	2	226	c.20C>A	c.(19-21)aCt>aAt	p.T7N	KIAA0430_ENST00000551742.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T7N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000344181.3_De_novo_Start_OutOfFrame|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T7N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	7					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGAGTTCTCAGTTCCGTTTCC	0.408																																						uc002ddr.2		NA																	0					0						c.(19-21)ACT>AAT		limkain b1							243.0	227.0	232.0					16																	15733071		1969	4167	6136	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15733071G>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.20C>A	16.37:g.15733071G>T	ENSP00000379654:p.Thr7Asn					KIAA0430_uc002ddq.2_Missense_Mutation_p.T6N|KIAA0430_uc010uzv.1_Missense_Mutation_p.T6N|KIAA0430_uc010uzw.1_Missense_Mutation_p.T6N|KIAA0430_uc010uzx.1_Missense_Mutation_p.T6N	p.T7N	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			2	213	-			6					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.20C>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356028	0.41700	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742;ENST00000551298;ENST00000549219	.	.	.	5.62	4.66	0.58398	.	0.176845	0.47455	D	0.000229	T	0.50803	0.1637	L	0.32530	0.975	0.80722	D	1	B;B;B;B;B	0.33694	0.015;0.421;0.421;0.421;0.297	B;B;B;B;B	0.36289	0.014;0.221;0.221;0.221;0.11	T	0.55315	-0.8160	9	0.72032	D	0.01	.	15.6833	0.77391	0.0:0.2591:0.7409:0.0	.	6;6;7;6;6	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	N	7;7;6;7;7;7;7	.	ENSP00000315718:T6N	T	-	2	0	KIAA0430	15640572	0.997000	0.39634	1.000000	0.80357	0.569000	0.35902	1.577000	0.36515	1.354000	0.45846	0.655000	0.94253	ACT		0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		5	269	1	0	0.000602214	0.000630683	5	269				
CYLD	1540	broad.mit.edu	37	16	50788321	50788321	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:50788321A>G	ENST00000427738.3	+	4	1104	c.899A>G	c.(898-900)aAt>aGt	p.N300S	CYLD_ENST00000540145.1_Missense_Mutation_p.N300S|CYLD_ENST00000566206.1_Missense_Mutation_p.N300S|CYLD_ENST00000398568.2_Missense_Mutation_p.N300S|CYLD_ENST00000311559.9_Missense_Mutation_p.N300S|CYLD_ENST00000568704.2_Missense_Mutation_p.N300S|CYLD_ENST00000564326.1_Missense_Mutation_p.N300S|CYLD_ENST00000569418.1_Missense_Mutation_p.N300S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	300	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTGCACATCAATGATATCATC	0.308			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(898-900)AAT>AGT		ubiquitin carboxyl-terminal hydrolase CYLD							147.0	132.0	136.0					16																	50788321		1824	4087	5911	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50788321A>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.899A>G	16.37:g.50788321A>G	ENSP00000392025:p.Asn300Ser					CYLD_uc002egn.1_Missense_Mutation_p.N300S|CYLD_uc002ego.2_Missense_Mutation_p.N300S|CYLD_uc010cbs.1_Missense_Mutation_p.N300S|CYLD_uc002egq.1_Missense_Mutation_p.N300S|CYLD_uc002egr.1_Missense_Mutation_p.N300S|CYLD_uc002egs.1_Missense_Mutation_p.N300S	p.N300S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			6	1314	+		all_cancers(37;0.0156)	300			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.899A>G	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208567	0.39003	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.98	4.89	0.63831	Cytoskeleton-associated protein, Gly-rich domain (2);	0.096864	0.64402	D	0.000001	T	0.12902	0.0313	N	0.22421	0.69	0.41821	D	0.990028	B;B;B;B	0.33777	0.425;0.372;0.372;0.425	B;B;B;B	0.36808	0.233;0.15;0.15;0.233	T	0.15378	-1.0439	10	0.21014	T	0.42	-17.1193	12.1753	0.54182	0.9331:0.0:0.0669:0.0	.	300;300;300;300	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	S	300	ENSP00000445447:N300S;ENSP00000308928:N300S;ENSP00000392025:N300S;ENSP00000381574:N300S	ENSP00000308928:N300S	N	+	2	0	CYLD	49345822	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.047000	0.76599	1.072000	0.40860	0.533000	0.62120	AAT		0.308	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			8	51	0	0	0	0	8	51				
CHD9	80205	broad.mit.edu	37	16	53243560	53243560	+	Missense_Mutation	SNP	G	G	A	rs373596251		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:53243560G>A	ENST00000398510.3	+	2	1706	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	CHD9_ENST00000447540.1_Missense_Mutation_p.R540H|CHD9_ENST00000564845.1_Missense_Mutation_p.R540H|CHD9_ENST00000566029.1_Missense_Mutation_p.R540H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	540					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAAAGGAGCGTGGGGAACGC	0.418																																						uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(1618-1620)CGT>CAT		chromodomain helicase DNA binding protein 9		G	HIS/ARG	0,3766		0,0,1883	122.0	116.0	118.0		1619	5.7	1.0	16		118	1,8231		0,1,4115	no	missense	CHD9	NM_025134.4	29	0,1,5998	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	540/2882	53243560	1,11997	1883	4116	5999	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53243560G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1619G>A	16.37:g.53243560G>A	ENSP00000381522:p.Arg540His					CHD9_uc002egy.2_Missense_Mutation_p.R540H|CHD9_uc002egz.1_Missense_Mutation_p.R540H|CHD9_uc002eha.1_Missense_Mutation_p.R540H|CHD9_uc002ehc.2_Missense_Mutation_p.R540H|CHD9_uc002ehd.2_Missense_Mutation_p.R66H	p.R540H	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			2	1783	+		all_cancers(37;0.0212)	540					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1619G>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.309446	0.81247	0.0	1.21E-4	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.54479	0.57;0.57	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000058	T	0.73621	0.3610	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.989;0.999;0.987;0.998;0.994	T	0.74306	-0.3708	10	0.59425	D	0.04	-12.0677	19.7612	0.96319	0.0:0.0:1.0:0.0	.	66;540;540;540;540	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	H	540;540;66	ENSP00000396345:R540H;ENSP00000381522:R540H	ENSP00000219084:R66H	R	+	2	0	CHD9	51801061	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.239000	0.95389	2.670000	0.90874	0.655000	0.94253	CGT		0.418	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		29	90	0	0	0	0	29	90				
KCTD19	146212	broad.mit.edu	37	16	67325248	67325248	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:67325248G>A	ENST00000304372.5	-	14	2584	c.2529C>T	c.(2527-2529)atC>atT	p.I843I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	843					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGGCTGTGATGGCTTTGG	0.557																																						uc002esu.2		NA																	0				skin(1)	1						c.(2527-2529)ATC>ATT		potassium channel tetramerisation domain							76.0	78.0	77.0					16																	67325248		2021	4184	6205	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325248G>A	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2529C>T	16.37:g.67325248G>A						KCTD19_uc002est.2_Silent_p.I615I|KCTD19_uc010vjj.1_Silent_p.I586I	p.I843I	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	14	2580	-		Ovarian(137;0.192)	843					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.2529C>T	CCDS42179.1																																																																																				0.557	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		9	63	0	0	0	0	9	63				
HYDIN	54768	broad.mit.edu	37	16	70902676	70902676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:70902676G>A	ENST00000393567.2	-	66	11257	c.11107C>T	c.(11107-11109)Cct>Tct	p.P3703S	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3703					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCACACCCAGGGTGGAGGTGG	0.463																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(11104-11106)CCT>TCT		hydrocephalus inducing isoform a							49.0	41.0	44.0					16																	70902676		1943	4109	6052	SO:0001583	missense	54768							g.chr16:70902676G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11107C>T	16.37:g.70902676G>A	ENSP00000377197:p.Pro3703Ser					HYDIN_uc010cfy.2_5'Flank	p.P3702S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			66	11232	-		Ovarian(137;0.0654)	3703					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11104C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442806	0.63067	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01051	5.4	5.03	2.93	0.34026	.	0.273612	0.18968	U	0.126205	T	0.02455	0.0075	M	0.70275	2.135	0.80722	D	1	B	0.32071	0.355	B	0.39660	0.306	T	0.51450	-0.8704	10	0.41790	T	0.15	.	8.6656	0.34118	0.0:0.4934:0.3789:0.1278	.	3702	F8WD23	.	S	3703;3702	ENSP00000377197:P3703S	ENSP00000313052:P3702S	P	-	1	0	HYDIN	69460177	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.517000	0.53443	1.067000	0.40740	0.511000	0.50034	CCT		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			13	33	0	0	0	0	13	33				
CHST6	4166	broad.mit.edu	37	16	75512869	75512869	+	Silent	SNP	C	C	T	rs375043854		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:75512869C>T	ENST00000332272.4	-	3	1037	c.858G>A	c.(856-858)gcG>gcA	p.A286A	CHST6_ENST00000390664.2_Silent_p.A286A|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	286					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGCGTAGAGCGCACGGATTT	0.672																																						uc002fef.2		NA																	0					0						c.(856-858)GCG>GCA		carbohydrate (N-acetylglucosamine 6-O)		C		0,4396		0,0,2198	49.0	47.0	48.0		858	-4.8	0.1	16		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHST6	NM_021615.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		286/396	75512869	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512869C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.858G>A	16.37:g.75512869C>T						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.A286A	p.A286A	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1038	-			286			Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.858G>A	CCDS10918.1																																																																																				0.672	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		8	64	0	0	0	0	8	64				
TAF1C	9013	broad.mit.edu	37	16	84214952	84214952	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:84214952C>T	ENST00000567759.1	-	10	1406	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	TAF1C_ENST00000566732.1_Silent_p.V382V|TAF1C_ENST00000378541.4_Silent_p.V408V|TAF1C_ENST00000341690.6_Silent_p.V315V|TAF1C_ENST00000541676.1_Silent_p.V315V|TAF1C_ENST00000570117.1_Silent_p.V76V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	408					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)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCAGCATCTTCACTCCGGTGC	0.697																																						uc002fhn.2		NA																	0				ovary(1)	1						c.(1222-1224)GTG>GTA		TBP-associated factor 1C isoform 1							37.0	39.0	39.0					16																	84214952		2200	4299	6499	SO:0001819	synonymous_variant	9013				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	nucleoplasm	DNA binding	g.chr16:84214952C>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1224G>A	16.37:g.84214952C>T						TAF1C_uc002fhm.2_Silent_p.V315V|TAF1C_uc010vnx.1_Silent_p.V382V|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Silent_p.V76V|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Silent_p.V76V|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR	p.V408V	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			10	1452	-			408					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.1224G>A	CCDS32496.1																																																																																				0.697	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		19	29	0	0	0	0	19	29				
DHX33	56919	broad.mit.edu	37	17	5353646	5353646	+	Silent	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:5353646G>T	ENST00000225296.3	-	10	1805	c.1605C>A	c.(1603-1605)ctC>ctA	p.L535L	DHX33_ENST00000433302.3_Silent_p.L311L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	535					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGGGTTGTGGAGGACGCTGT	0.522																																						uc002gca.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1603-1605)CTC>CTA		DEAH (Asp-Glu-Ala-His) box polypeptide 33							137.0	140.0	139.0					17																	5353646		2203	4300	6503	SO:0001819	synonymous_variant	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5353646G>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1605C>A	17.37:g.5353646G>T						DHX33_uc002gbz.2_Silent_p.L306L|DHX33_uc002gcb.2_Silent_p.L362L|DHX33_uc010clf.2_Silent_p.L311L	p.L535L	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			10	1607	-			535					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	c.1605C>A	CCDS11072.1																																																																																				0.522	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		8	294	1	0	2.74e-10	3.02e-10	8	294				
DHX33	56919	broad.mit.edu	37	17	5364405	5364405	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:5364405C>A	ENST00000225296.3	-	4	903	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	235	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTCCACATCCATCGTAGCT	0.517																																						uc002gca.2		NA																	0				ovary(1)|pancreas(1)	2						c.(703-705)GAT>TAT		DEAH (Asp-Glu-Ala-His) box polypeptide 33							151.0	140.0	144.0					17																	5364405		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5364405C>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.703G>T	17.37:g.5364405C>A	ENSP00000225296:p.Asp235Tyr					DHX33_uc002gbz.2_Missense_Mutation_p.D6Y|DHX33_uc002gcb.2_Missense_Mutation_p.D62Y|DHX33_uc010clf.2_Intron	p.D235Y	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			4	705	-			235			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.703G>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148093	0.94603	.	.	ENSG00000005100	ENST00000225296	T	0.10005	2.92	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	H	0.97940	4.11	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	T	0.69101	-0.5234	10	0.87932	D	0	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	235	Q9H6R0	DHX33_HUMAN	Y	235	ENSP00000225296:D235Y	ENSP00000225296:D235Y	D	-	1	0	DHX33	5305129	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.762000	0.85270	2.884000	0.98904	0.655000	0.94253	GAT		0.517	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		36	185	1	0	1.91e-15	2.14e-15	36	185				
KCTD11	147040	broad.mit.edu	37	17	7256895	7256895	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:7256895G>C	ENST00000333751.3	+	1	1688	c.634G>C	c.(634-636)Gac>Cac	p.D212H	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	212					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTTCCGACTAGACTCTGTCTT	0.642																																						uc002gge.3		NA																	0					0						c.(634-636)GAC>CAC		potassium channel tetramerisation domain							24.0	25.0	25.0					17																	7256895		2154	4246	6400	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256895G>C	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.634G>C	17.37:g.7256895G>C	ENSP00000328352:p.Asp212His					TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	p.D212H	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN			1	1688	+		Prostate(122;0.157)	212					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.634G>C	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904501	0.72868	.	.	ENSG00000213859	ENST00000333751	T	0.81163	-1.46	5.18	4.22	0.49857	.	0.000000	0.47455	U	0.000237	T	0.79375	0.4435	L	0.29908	0.895	0.40445	D	0.980082	D	0.65815	0.995	P	0.58013	0.831	T	0.80845	-0.1200	10	0.66056	D	0.02	.	9.2787	0.37716	0.0965:0.0:0.9035:0.0	.	212	Q693B1	KCD11_HUMAN	H	212	ENSP00000328352:D212H	ENSP00000328352:D212H	D	+	1	0	KCTD11	7197619	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	8.200000	0.89733	1.423000	0.47198	0.462000	0.41574	GAC		0.642	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		4	65	0	0	0	0	4	65				
TEKT3	64518	broad.mit.edu	37	17	15217494	15217494	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:15217494G>A	ENST00000395930.1	-	6	974	c.788C>T	c.(787-789)aCg>aTg	p.T263M	RNU6-799P_ENST00000363567.1_RNA|TEKT3_ENST00000338696.2_Missense_Mutation_p.T263M	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	263					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCGGTAAGCCGTCTGTTTGTC	0.557																																						uc002gon.2		NA																	0				ovary(2)	2						c.(787-789)ACG>ATG		tektin 3							252.0	159.0	190.0					17																	15217494		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15217494G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.788C>T	17.37:g.15217494G>A	ENSP00000379263:p.Thr263Met						p.T263M	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	6	975	-			263					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.788C>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	g	7.266	0.606246	0.14002	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02579	4.24;4.24;4.24	5.43	1.16	0.20824	.	0.622749	0.17994	N	0.155117	T	0.02610	0.0079	L	0.38175	1.15	0.09310	N	1	B	0.23854	0.092	B	0.19391	0.025	T	0.42068	-0.9473	10	0.40728	T	0.16	-9.4221	6.9006	0.24281	0.2537:0.0:0.6349:0.1114	.	263	Q9BXF9	TEKT3_HUMAN	M	263;263;97	ENSP00000379263:T263M;ENSP00000343995:T263M;ENSP00000443280:T97M	ENSP00000343995:T263M	T	-	2	0	TEKT3	15158219	0.117000	0.22190	0.002000	0.10522	0.079000	0.17450	2.676000	0.46883	0.280000	0.22209	-0.810000	0.03169	ACG		0.557	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		11	64	0	0	0	0	11	64				
RAI1	10743	broad.mit.edu	37	17	17701461	17701461	+	Silent	SNP	G	G	A	rs146112263	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:17701461G>A	ENST00000353383.1	+	3	5668	c.5199G>A	c.(5197-5199)tcG>tcA	p.S1733S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1733					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1733S(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGCCTCGCTGCCGCTTG	0.642																																						uc002grm.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(5197-5199)TCG>TCA		retinoic acid induced 1		G		0,4406		0,0,2203	33.0	36.0	35.0		5199	-5.3	0.2	17	dbSNP_134	35	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	RAI1	NM_030665.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		1733/1907	17701461	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701461G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5199G>A	17.37:g.17701461G>A						RAI1_uc002grn.1_Silent_p.S1733S	p.S1733S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5668	+			1733					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.5199G>A	CCDS11188.1																																																																																				0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		10	49	0	0	0	0	10	49				
PTRH2	51651	broad.mit.edu	37	17	57775025	57775025	+	Silent	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:57775025G>C	ENST00000470557.2	-	1	3761	c.315C>G	c.(313-315)ctC>ctG	p.L105L	PTRH2_ENST00000393038.2_Silent_p.L105L|PTRH2_ENST00000537860.1_Silent_p.L105L|PTRH2_ENST00000409433.2_Silent_p.L106L|PTRH2_ENST00000579915.1_5'Flank			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	105					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATTGTTTGAGCATTTCAG	0.463																																						uc002ixt.2		NA																	0					0						c.(313-315)CTC>CTG		Bcl-2 inhibitor of transcription precursor							167.0	157.0	161.0					17																	57775025		2203	4300	6503	SO:0001819	synonymous_variant	51651				apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity	g.chr17:57775025G>C	AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.315C>G	17.37:g.57775025G>C						PTRH2_uc002ixs.2_RNA	p.L105L	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN			2	440	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		105					B3KUY4|Q9NTE5	Silent	SNP	ENST00000470557.2	37	c.315C>G	CCDS11618.1																																																																																				0.463	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		11	242	0	0	0	0	11	242				
COG1	9382	broad.mit.edu	37	17	71193179	71193179	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:71193179G>A	ENST00000299886.4	+	3	781	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	234					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGCTGGCCAGAAAGGCAACT	0.522																																						uc002jjg.2		NA																	0				ovary(1)	1						c.(700-702)AGA>AAA		component of oligomeric golgi complex 1							52.0	54.0	54.0					17																	71193179		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193179G>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.701G>A	17.37:g.71193179G>A	ENSP00000299886:p.Arg234Lys					COG1_uc002jjh.2_Missense_Mutation_p.R234K|COG1_uc002jjf.1_Missense_Mutation_p.R234K	p.R234K	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	737	+			234					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.701G>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658592	0.67586	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.60299	0.22;0.2	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	1.0;0.973;1.0	D;P;D	0.80764	0.994;0.77;0.994	T	0.74719	-0.3570	10	0.66056	D	0.02	-9.1963	19.4837	0.95020	0.0:0.0:1.0:0.0	.	234;234;234	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	K	234	ENSP00000400111:R234K;ENSP00000299886:R234K	ENSP00000299886:R234K	R	+	2	0	COG1	68704774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.345000	0.97053	2.607000	0.88179	0.655000	0.94253	AGA		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			6	54	0	0	0	0	6	54				
BAHCC1	57597	broad.mit.edu	37	17	79428095	79428095	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:79428095G>A	ENST00000307745.7	+	30	6406	c.6406G>A	c.(6406-6408)Gag>Aag	p.E2136K	RP11-1055B8.8_ENST00000572590.1_RNA														p.E2136K(1)									GCGGGCCCGCGAGGCCCTGTT	0.682																																						uc002kaf.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(6406-6408)GAG>AAG		BAH domain and coiled-coil containing 1							9.0	14.0	12.0					17																	79428095		2068	4190	6258	SO:0001583	missense	57597						DNA binding	g.chr17:79428095G>A																												ENST00000307745.7:c.6406G>A	17.37:g.79428095G>A	ENSP00000303486:p.Glu2136Lys					BAHCC1_uc002kae.2_Missense_Mutation_p.E1366K	p.E2136K	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		24	6406	+	all_neural(118;0.0804)|Melanoma(429;0.242)		2136						Missense_Mutation	SNP	ENST00000307745.7	37	c.6406G>A		.	.	.	.	.	.	.	.	.	.	G	11.47	1.647437	0.29246	.	.	ENSG00000171282	ENST00000307745	T	0.12879	2.64	5.47	5.47	0.80525	.	0.309656	0.25484	N	0.030354	T	0.21590	0.0520	L	0.47716	1.5	0.09310	N	1	D;D	0.65815	0.992;0.995	B;P	0.48654	0.381;0.585	T	0.03662	-1.1015	10	0.66056	D	0.02	.	18.0706	0.89405	0.0:0.0:1.0:0.0	.	2136;2136	Q9P281;F8WBW8	BAHC1_HUMAN;.	K	2136	ENSP00000303486:E2136K	ENSP00000303486:E2136K	E	+	1	0	AC110285.1	77042690	0.991000	0.36638	0.414000	0.26521	0.005000	0.04900	2.730000	0.47335	2.562000	0.86427	0.555000	0.69702	GAG		0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	18	0	0	0	0	4	18				
MC2R	4158	broad.mit.edu	37	18	13885287	13885287	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr18:13885287C>T	ENST00000327606.3	-	2	411	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	77					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TTTCCAAGATCTTATATAGGC	0.448																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(229-231)AAG>AAA		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						97.0	92.0	94.0					18																	13885287		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885287C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.231G>A	18.37:g.13885287C>T							p.K77K	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	408	-			77			Helical; Name=2; (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.231G>A	CCDS11869.1																																																																																				0.448	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			6	108	0	0	0	0	6	108				
CDH19	28513	broad.mit.edu	37	18	64239324	64239324	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr18:64239324T>A	ENST00000540086.1	-	2	364	c.118A>T	c.(118-120)Aga>Tga	p.R40*	CDH19_ENST00000262150.2_Nonsense_Mutation_p.R40*	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CGCTTCACTCTCAAATGAGAT	0.423																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(118-120)AGA>TGA		cadherin 19, type 2 preproprotein							105.0	97.0	100.0					18																	64239324		2203	4299	6502	SO:0001587	stop_gained	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64239324T>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.118A>T	18.37:g.64239324T>A	ENSP00000439593:p.Arg40*					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Nonsense_Mutation_p.R40*|CDH19_uc002lkd.2_Nonsense_Mutation_p.R40*	p.R40*	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			2	256	-		Esophageal squamous(42;0.0132)	40					O15098	Nonsense_Mutation	SNP	ENST00000540086.1	37	c.118A>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	39	7.478776	0.98309	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	.	.	.	5.7	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0701	0.53611	0.0:0.0:0.1442:0.8558	.	.	.	.	X	40	.	ENSP00000262150:R40X	R	-	1	2	CDH19	62390304	0.896000	0.30565	0.774000	0.31636	0.624000	0.37722	1.632000	0.37102	0.949000	0.37715	0.460000	0.39030	AGA		0.423	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		20	113	0	0	0	0	20	113				
TMPRSS9	360200	broad.mit.edu	37	19	2408478	2408478	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:2408478G>A	ENST00000332578.3	+	7	865	c.865G>A	c.(865-867)Gcc>Acc	p.A289T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	289	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGACACGGCCGACTTTGA	0.677																																						uc010xgx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(865-867)GCC>ACC		transmembrane protease, serine 9							108.0	93.0	98.0					19																	2408478		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408478G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.865G>A	19.37:g.2408478G>A	ENSP00000330264:p.Ala289Thr					TMPRSS9_uc002lvv.1_Missense_Mutation_p.A323T	p.A289T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	865	+			289			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.865G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	9.610	1.130999	0.21041	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.59083	0.29	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	U	0.000298	T	0.53206	0.1782	N	0.05177	-0.1	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.52041	-0.8628	10	0.22706	T	0.39	.	13.2367	0.59972	0.0:0.1616:0.8384:0.0	.	289;323	Q7Z410;E7EMP4	TMPS9_HUMAN;.	T	323;289	ENSP00000330264:A289T	ENSP00000330264:A289T	A	+	1	0	TMPRSS9	2359478	0.125000	0.22332	0.206000	0.23566	0.142000	0.21351	1.744000	0.38268	0.924000	0.37069	0.491000	0.48974	GCC		0.677	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		4	162	0	0	0	0	4	162				
FBN3	84467	broad.mit.edu	37	19	8156457	8156457	+	Missense_Mutation	SNP	C	C	G	rs530861137		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:8156457C>G	ENST00000600128.1	-	48	6337	c.5923G>C	c.(5923-5925)Gag>Cag	p.E1975Q	FBN3_ENST00000270509.2_Missense_Mutation_p.E1975Q|FBN3_ENST00000601739.1_Missense_Mutation_p.E1975Q			Q75N90	FBN3_HUMAN	fibrillin 3	1975	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			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						TTGGGCTCCTCTGAGCACTCG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17975	0.001		0.0	False		,,,				2504	0.0					uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5923-5925)GAG>CAG		fibrillin 3 precursor							104.0	90.0	95.0					19																	8156457		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8156457C>G		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.5923G>C	19.37:g.8156457C>G	ENSP00000470498:p.Glu1975Gln					FBN3_uc002mje.2_5'Flank	p.E1975Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			47	5944	-			1975			EGF-like 32; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5923G>C	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.286|9.286	1.049328|1.049328	0.19827|0.19827	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000270509|ENST00000341066	D|.	0.92099|.	-2.97|.	4.45|4.45	3.41|3.41	0.39046|0.39046	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.197645|.	0.42821|.	U|.	0.000655|.	T|T	0.33147|0.33147	0.0853|0.0853	L|L	0.28192|0.28192	0.835|0.835	0.28566|0.28566	N|N	0.910877|0.910877	B|.	0.12013|.	0.005|.	B|.	0.21546|.	0.035|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|6	0.41790|0.17369	T|T	0.15|0.5	.|.	12.5656|12.5656	0.56308|0.56308	0.0:0.9179:0.0:0.0821|0.0:0.9179:0.0:0.0821	.|.	1975|.	Q75N90|.	FBN3_HUMAN|.	Q|H	1975|94	ENSP00000270509:E1975Q|.	ENSP00000270509:E1975Q|ENSP00000341317:Q94H	E|Q	-|-	1|3	0|2	FBN3|FBN3	8062457|8062457	0.535000|0.535000	0.26370|0.26370	0.351000|0.351000	0.25721|0.25721	0.086000|0.086000	0.17979|0.17979	1.164000|1.164000	0.31810|0.31810	0.864000|0.864000	0.35578|0.35578	-0.126000|-0.126000	0.14955|0.14955	GAG|CAG		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	95	0	0	0	0	16	95				
MUC16	94025	broad.mit.edu	37	19	9067136	9067136	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:9067136C>T	ENST00000397910.4	-	3	20513	c.20310G>A	c.(20308-20310)caG>caA	p.Q6770Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6772	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.Q6770Q(1)|p.Q2403Q(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						GTGGAAATTCCTGAGTCGCCA	0.488																																						uc002mkp.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20308-20310)CAG>CAA		mucin 16							233.0	232.0	232.0					19																	9067136		2202	4297	6499	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067136C>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.20310G>A	19.37:g.9067136C>T							p.Q6770Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20514	-			6772			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20310G>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		125	201	0	0	0	0	125	201				
MUC16	94025	broad.mit.edu	37	19	9076191	9076191	+	Missense_Mutation	SNP	G	G	A	rs541416348		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:9076191G>A	ENST00000397910.4	-	3	11458	c.11255C>T	c.(11254-11256)tCa>tTa	p.S3752L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3753	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.S3752L(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						CTGAGGAGCTGAGGTAGTGGC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20934	0.0		0.0	False		,,,				2504	0.001					uc002mkp.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11254-11256)TCA>TTA		mucin 16							114.0	115.0	114.0					19																	9076191		2040	4188	6228	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076191G>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.11255C>T	19.37:g.9076191G>A	ENSP00000381008:p.Ser3752Leu						p.S3752L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11459	-			3753			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11255C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320981	0.23994	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.76	-0.623	0.11556	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.30068	0.267	B	0.29353	0.101	T	0.44862	-0.9300	8	0.87932	D	0	.	2.9272	0.05788	0.1952:0.2966:0.5082:0.0	.	3752	B5ME49	.	L	3752	ENSP00000381008:S3752L	ENSP00000381008:S3752L	S	-	2	0	MUC16	8937191	0.044000	0.20184	0.032000	0.17829	0.717000	0.41224	0.650000	0.24858	-0.090000	0.12462	0.313000	0.20887	TCA		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	66	0	0	0	0	34	66				
WIZ	58525	broad.mit.edu	37	19	15547866	15547866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:15547866C>T	ENST00000389282.4	-	4	2560	c.2347G>A	c.(2347-2349)Ggc>Agc	p.G783S	WIZ_ENST00000263381.7_Missense_Mutation_p.G94S			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	783					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGAGAGGCCGGCCCGTGTG	0.632																																						uc002nbb.3		NA																	0					0						c.(280-282)GGC>AGC		widely-interspaced zinc finger motifs							29.0	39.0	35.0					19																	15547866		2123	4231	6354	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15547866C>T	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2347G>A	19.37:g.15547866C>T	ENSP00000373933:p.Gly783Ser						p.G94S	NM_021241	NP_067064	O95785	WIZ_HUMAN			3	494	-			884			C2H2-type 7.		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.171259	0.94807	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T;T	0.26660	1.73;1.72	4.26	4.26	0.50523	.	0.144593	0.45126	D	0.000394	T	0.52338	0.1728	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59461	-0.7450	9	0.72032	D	0.01	-23.3357	15.6849	0.77402	0.0:1.0:0.0:0.0	.	94	O95785-2	.	S	783;94	ENSP00000373933:G783S;ENSP00000263381:G94S	ENSP00000263381:G94S	G	-	1	0	WIZ	15408866	1.000000	0.71417	0.968000	0.41197	0.991000	0.79684	7.196000	0.77805	2.215000	0.71742	0.449000	0.29647	GGC		0.632	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		6	25	0	0	0	0	6	25				
HAUS8	93323	broad.mit.edu	37	19	17173586	17173586	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:17173586G>A	ENST00000253669.5	-	4	341	c.151C>T	c.(151-153)Cct>Tct	p.P51S	HAUS8_ENST00000593360.1_5'UTR|HAUS8_ENST00000448593.2_Missense_Mutation_p.P51S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	51					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)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TCTCCTGCAGGAGCCTGTTAT	0.532																																						uc002nfe.2		NA																	0					0						c.(151-153)CCT>TCT		sarcoma antigen NY-SAR-48 isoform a							140.0	115.0	123.0					19																	17173586		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17173586G>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.151C>T	19.37:g.17173586G>A	ENSP00000253669:p.Pro51Ser					HAUS8_uc002nff.2_Missense_Mutation_p.P51S|HAUS8_uc002nfg.1_5'UTR|HAUS8_uc002nfh.1_Missense_Mutation_p.P51S	p.P51S	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			4	262	-			51					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.151C>T	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	G	0.940	-0.709738	0.03230	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.42131	0.98;0.99	2.91	0.293	0.15742	.	1.669300	0.03533	N	0.222761	T	0.14743	0.0356	N	0.01505	-0.83	0.23162	N	0.99819	B;B	0.19331	0.035;0.035	B;B	0.15484	0.013;0.013	T	0.24905	-1.0147	10	0.06625	T	0.88	-1.7271	4.6293	0.12493	0.4186:0.0:0.5814:0.0	.	51;51	C9JBZ4;Q9BT25	.;HAUS8_HUMAN	S	51	ENSP00000253669:P51S;ENSP00000395298:P51S	ENSP00000253669:P51S	P	-	1	0	HAUS8	17034586	0.124000	0.22315	0.617000	0.29091	0.010000	0.07245	-0.003000	0.12901	0.106000	0.17784	0.655000	0.94253	CCT		0.532	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		13	88	0	0	0	0	13	88				
MAU2	23383	broad.mit.edu	37	19	19465201	19465201	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:19465201C>T	ENST00000392313.6	+	17	1765	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	MAU2_ENST00000262815.8_Missense_Mutation_p.A529V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	529					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.A529V(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ATGCAGCTCGCCAGCAAGATC	0.627																																						uc002nmk.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1585-1587)GCC>GTC		hypothetical protein LOC23383 precursor							125.0	93.0	104.0					19																	19465201		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19465201C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1586C>T	19.37:g.19465201C>T	ENSP00000376127:p.Ala529Val					KIAA0892_uc002nml.3_Missense_Mutation_p.A134V|KIAA0892_uc010ecd.2_Missense_Mutation_p.A134V|KIAA0892_uc010ece.2_Missense_Mutation_p.A105V	p.A529V	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN			17	1625	+			529			TPR 4.		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1586C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	35	5.515821	0.96402	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	M	0.78637	2.42	0.80722	D	1	D;D;D	0.71674	0.996;0.988;0.998	D;D;D	0.75484	0.986;0.971;0.965	T	0.82165	-0.0592	9	0.72032	D	0.01	.	17.9609	0.89085	0.0:1.0:0.0:0.0	.	105;134;529	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	V	529	.	ENSP00000262815:A529V	A	+	2	0	MAU2	19326201	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.526000	0.81920	2.605000	0.88082	0.561000	0.74099	GCC		0.627	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		9	74	0	0	0	0	9	74				
ZNF430	80264	broad.mit.edu	37	19	21240159	21240159	+	Missense_Mutation	SNP	G	G	A	rs371234614		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:21240159G>A	ENST00000261560.5	+	5	1226	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	349					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E349K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAAATGTGAAGAATGTGGCAA	0.393																																						uc002npj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(2)	2						c.(1045-1047)GAA>AAA		zinc finger protein 430							58.0	62.0	61.0					19																	21240159		2202	4290	6492	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240159G>A	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1045G>A	19.37:g.21240159G>A	ENSP00000261560:p.Glu349Lys					ZNF430_uc002npk.2_Missense_Mutation_p.E348K	p.E349K	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1155	+			349			C2H2-type 6.		Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1045G>A	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.803685	0.50315	.	.	ENSG00000118620	ENST00000261560	T	0.07327	3.2	1.04	-0.843	0.10744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	L	0.48935	1.535	0.09310	N	1	P;P	0.49307	0.747;0.922	B;P	0.47941	0.426;0.562	T	0.28138	-1.0053	9	0.59425	D	0.04	.	7.7376	0.28823	0.0:0.2617:0.7383:0.0	.	348;349	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	K	349	ENSP00000261560:E349K	ENSP00000261560:E349K	E	+	1	0	ZNF430	21031999	0.000000	0.05858	0.492000	0.27490	0.472000	0.32918	-0.010000	0.12743	0.452000	0.26830	0.455000	0.32223	GAA		0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		56	98	0	0	0	0	56	98				
PDCD2L	84306	broad.mit.edu	37	19	34912449	34912449	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:34912449T>A	ENST00000246535.3	+	6	870	c.823T>A	c.(823-825)Ttt>Att	p.F275I	PDCD2L_ENST00000587065.2_5'UTR|RN7SL154P_ENST00000578043.1_RNA	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	275					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGAGCCACTCTTTTTGACCTG	0.512																																						uc002nvj.2		NA																	0				ovary(1)	1						c.(823-825)TTT>ATT		programmed cell death 2-like							190.0	201.0	197.0					19																	34912449		2203	4300	6503	SO:0001583	missense	84306					cytoplasm		g.chr19:34912449T>A	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.823T>A	19.37:g.34912449T>A	ENSP00000246535:p.Phe275Ile						p.F275I	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	856	+	Esophageal squamous(110;0.162)		275						Missense_Mutation	SNP	ENST00000246535.3	37	c.823T>A	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	T	30	5.053492	0.93793	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	5.98	0.97165	Programmed cell death protein 2, C-terminal (1);	0.234553	0.51477	D	0.000084	T	0.75532	0.3862	M	0.77406	2.37	0.46631	D	0.999132	D	0.55605	0.972	P	0.58172	0.834	T	0.74797	-0.3543	9	0.32370	T	0.25	-10.1976	15.4392	0.75171	0.0:0.0:0.0:1.0	.	275	Q9BRP1	PDD2L_HUMAN	I	275	.	ENSP00000246535:F275I	F	+	1	0	PDCD2L	39604289	1.000000	0.71417	0.439000	0.26833	0.874000	0.50279	5.891000	0.69782	2.293000	0.77203	0.477000	0.44152	TTT		0.512	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		16	378	0	0	0	0	16	378				
ZBTB32	27033	broad.mit.edu	37	19	36205789	36205789	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:36205789T>C	ENST00000392197.2	+	3	579	c.261T>C	c.(259-261)ccT>ccC	p.P87P	ZBTB32_ENST00000262630.3_Silent_p.P87P			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCTGCAGCCTGGAGAGCTAA	0.627																																						uc002oay.2		NA																	0				ovary(1)|skin(1)	2						c.(259-261)CCT>CCC		zinc finger and BTB domain containing 32							61.0	62.0	62.0					19																	36205789		2203	4300	6503	SO:0001819	synonymous_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205789T>C	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.261T>C	19.37:g.36205789T>C						ZBTB32_uc002oaz.2_RNA	p.P87P	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	471	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		87			BTB.		Q8WVP2	Silent	SNP	ENST00000392197.2	37	c.261T>C	CCDS12471.1																																																																																				0.627	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		3	150	0	0	0	0	3	150				
ZNF780A	284323	broad.mit.edu	37	19	40580486	40580486	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:40580486A>G	ENST00000595687.2	-	6	2072	c.1863T>C	c.(1861-1863)gtT>gtC	p.V621V	ZNF780A_ENST00000455521.1_Silent_p.V622V|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.V621V|ZNF780A_ENST00000450241.2_Silent_p.V587V|ZNF780A_ENST00000594395.1_Silent_p.V622V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	621					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAGACTAAAAACCTTTCCAC	0.413																																						uc002omy.2		NA																	0					0						c.(1861-1863)GTT>GTC		zinc finger protein 780A isoform b							133.0	130.0	131.0					19																	40580486		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580486A>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1863T>C	19.37:g.40580486A>G						ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.V621V|ZNF780A_uc010xvh.1_Silent_p.V622V	p.V621V	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	2088	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		621			C2H2-type 17.		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1863T>C	CCDS33026.2																																																																																				0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		39	166	0	0	0	0	39	166				
ZNF155	7711	broad.mit.edu	37	19	44500287	44500287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:44500287G>A	ENST00000270014.2	+	5	406	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ZNF155_ENST00000407951.2_Missense_Mutation_p.G104E|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.G93E|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	93					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CCAGAAGCAGGAGCACATGAA	0.418																																					NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(277-279)GGA>GAA		zinc finger protein 155							70.0	74.0	73.0					19																	44500287		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500287G>A	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.278G>A	19.37:g.44500287G>A	ENSP00000270014:p.Gly93Glu					ZNF155_uc002oxz.1_Missense_Mutation_p.G93E|ZNF155_uc010xwt.1_Missense_Mutation_p.G104E	p.G93E	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	483	+		Prostate(69;0.0352)	93					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.278G>A	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	g	12.64	1.997989	0.35226	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.05199	3.5;3.48	2.22	-1.9	0.07665	.	.	.	.	.	T	0.10723	0.0262	L	0.52011	1.625	0.09310	N	1	D;P	0.89917	1.0;0.598	D;B	0.97110	1.0;0.2	T	0.21348	-1.0248	9	0.06236	T	0.91	.	3.1982	0.06640	0.3076:0.0:0.4928:0.1996	.	104;93	B4DM95;Q12901	.;ZN155_HUMAN	E	104;93	ENSP00000385163:G104E;ENSP00000270014:G93E	ENSP00000270014:G93E	G	+	2	0	ZNF155	49192127	0.000000	0.05858	0.003000	0.11579	0.236000	0.25371	-1.690000	0.01922	-0.349000	0.08274	0.457000	0.33378	GGA		0.418	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		22	120	0	0	0	0	22	120				
SYMPK	8189	broad.mit.edu	37	19	46324705	46324705	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:46324705C>T	ENST00000245934.7	-	22	3074	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	944					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCAGGAGCTCTCCAGGGTTC	0.587																																						uc002pdn.2		NA																	0				ovary(1)	1						c.(2830-2832)GAG>AAG		symplekin							150.0	122.0	131.0					19																	46324705		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46324705C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2830G>A	19.37:g.46324705C>T	ENSP00000245934:p.Glu944Lys					SYMPK_uc002pdo.1_Missense_Mutation_p.E944K|SYMPK_uc002pdp.1_Missense_Mutation_p.E944K	p.E944K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	22	3075	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	944					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2830G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162525	0.94727	.	.	ENSG00000125755	ENST00000245934	T	0.66280	-0.2	4.45	4.45	0.53987	.	0.111526	0.64402	D	0.000012	T	0.81108	0.4754	M	0.88105	2.93	0.80722	D	1	D;P	0.71674	0.998;0.886	D;P	0.70227	0.968;0.908	D	0.85104	0.0959	10	0.72032	D	0.01	.	14.6568	0.68838	0.0:1.0:0.0:0.0	.	959;944	Q4LE61;Q92797	.;SYMPK_HUMAN	K	944	ENSP00000245934:E944K	ENSP00000245934:E944K	E	-	1	0	SYMPK	51016545	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.866000	0.75506	2.332000	0.79248	0.555000	0.69702	GAG		0.587	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	61	0	0	0	0	3	61				
TRPM4	54795	broad.mit.edu	37	19	49693515	49693515	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:49693515C>G	ENST00000252826.5	+	15	2196	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	TRPM4_ENST00000427978.2_Missense_Mutation_p.I690M|TRPM4_ENST00000355712.5_Missense_Mutation_p.I336M	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	690					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.I690M(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTACACCCATCTGGGCCCTGG	0.602																																						uc002pmw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2068-2070)ATC>ATG		transient receptor potential cation channel,							255.0	224.0	235.0					19																	49693515		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49693515C>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2070C>G	19.37:g.49693515C>G	ENSP00000252826:p.Ile690Met					TRPM4_uc010emu.2_Missense_Mutation_p.I690M|TRPM4_uc010yak.1_Missense_Mutation_p.I154M|TRPM4_uc002pmx.2_Missense_Mutation_p.I516M|TRPM4_uc010emv.2_Missense_Mutation_p.I575M|TRPM4_uc010yal.1_Missense_Mutation_p.I336M|TRPM4_uc002pmy.2_Missense_Mutation_p.I32M	p.I690M	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	15	2142	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	690			Helical; (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2070C>G	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	c	11.91	1.778874	0.31502	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.82984	-1.67;-1.67;-1.67	4.99	2.82	0.32997	.	0.220096	0.38897	N	0.001529	T	0.79713	0.4493	L	0.45352	1.415	0.22896	N	0.998599	P;P;P;P	0.49559	0.877;0.925;0.874;0.802	P;P;P;B	0.51355	0.467;0.667;0.667;0.278	T	0.70048	-0.4979	10	0.56958	D	0.05	-7.2436	5.3412	0.15984	0.0:0.5984:0.1608:0.2408	.	336;516;690;690	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	M	690;690;336	ENSP00000252826:I690M;ENSP00000407492:I690M;ENSP00000347944:I336M	ENSP00000252826:I690M	I	+	3	3	TRPM4	54385327	0.630000	0.27155	0.985000	0.45067	0.140000	0.21249	-0.072000	0.11486	1.264000	0.44198	0.379000	0.24179	ATC		0.602	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		53	364	0	0	0	0	53	364				
IZUMO2	126123	broad.mit.edu	37	19	50666297	50666297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:50666297C>T	ENST00000293405.3	-	1	155	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	52						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCCCCGGCGCGCGCCTGCAG	0.667																																						uc002prp.1		NA																	0					0						c.(154-156)CGC>CAC		hypothetical protein LOC126123 precursor							26.0	31.0	29.0					19																	50666297		1961	4140	6101	SO:0001583	missense	126123					integral to membrane		g.chr19:50666297C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.155G>A	19.37:g.50666297C>T	ENSP00000293405:p.Arg52His						p.R52H	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	1	242	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	52			Extracellular (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.155G>A	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542275	0.65198	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.24350	1.86	3.39	3.39	0.38822	.	0.174456	0.28036	N	0.016846	T	0.36524	0.0970	L	0.34521	1.04	0.22199	N	0.9993	D	0.89917	1.0	D	0.87578	0.998	T	0.03695	-1.1012	10	0.87932	D	0	.	10.5876	0.45292	0.0:1.0:0.0:0.0	.	52	Q6UXV1	IZUM2_HUMAN	H	52	ENSP00000293405:R52H	ENSP00000293405:R52H	R	-	2	0	IZUMO2	55358109	0.996000	0.38824	0.422000	0.26621	0.026000	0.11368	2.094000	0.41719	2.185000	0.69588	0.655000	0.94253	CGC		0.667	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		5	51	0	0	0	0	5	51				
ZNF761	388561	broad.mit.edu	37	19	53958797	53958797	+	RNA	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:53958797C>T	ENST00000454407.1	+	0	1489							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACGCCATCATCGACTTCATAC	0.403																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(1036-1038)CGA>TGA		zinc finger protein 761							131.0	131.0	131.0					19																	53958797		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958797C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958797C>T						ZNF761_uc010ydy.1_Nonsense_Mutation_p.R292*|ZNF761_uc002qbt.1_Nonsense_Mutation_p.R292*	p.R346*	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1494	+			346			C2H2-type 5.		Q6ZNB9	Nonsense_Mutation	SNP	ENST00000454407.1	37	c.1036C>T																																																																																					0.403	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		49	198	0	0	0	0	49	198				
CACNG7	59284	broad.mit.edu	37	19	54445546	54445546	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:54445546G>A	ENST00000391767.1	+	6	1039	c.827G>A	c.(826-828)tGa>tAa	p.*276*	CACNG7_ENST00000222212.2_Silent_p.*276*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	0					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.*276*(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCGCCCTGCTGAGGCCCGCCC	0.662																																						uc002qcr.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(826-828)TGA>TAA		voltage-dependent calcium channel gamma-7							104.0	116.0	112.0					19																	54445546		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445546G>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.827G>A	19.37:g.54445546G>A							p.*276*	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	5	842	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		276					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.827G>A	CCDS12868.1																																																																																				0.662	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			48	209	0	0	0	0	48	209				
ZNF550	162972	broad.mit.edu	37	19	58059066	58059066	+	Silent	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:58059066G>T	ENST00000457177.1	-	4	726	c.546C>A	c.(544-546)ctC>ctA	p.L182L	ZNF550_ENST00000325134.5_Silent_p.L150L|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Silent_p.L141L			Q7Z398	ZN550_HUMAN	zinc finger protein 550	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATTCATGGAGAACATCTG	0.483																																						uc002qpe.1		NA																	0					0						c.(421-423)CTC>CTA		zinc finger protein 550							293.0	268.0	276.0					19																	58059066		2203	4300	6503	SO:0001819	synonymous_variant	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58059066G>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.546C>A	19.37:g.58059066G>T						ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	p.L141L	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	423	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	182					B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	ENST00000457177.1	37	c.423C>A																																																																																					0.483	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		15	363	1	0	6.72e-11	7.42e-11	15	363				
NT5C1B	93034	broad.mit.edu	37	2	18765901	18765901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:18765901C>T	ENST00000359846.2	-	5	859	c.782G>A	c.(781-783)cGc>cAc	p.R261H	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R261H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R261H|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R201H|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	261					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CAGAGAGTTGCGGTCCAGCTG	0.652																																						uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(781-783)CGC>CAC		5' nucleotidase, cytosolic IB isoform 1							19.0	21.0	20.0					2																	18765901		2200	4296	6496	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18765901C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.782G>A	2.37:g.18765901C>T	ENSP00000352904:p.Arg261His					NT5C1B_uc002rcy.2_Missense_Mutation_p.R261H|NT5C1B_uc010exr.2_Missense_Mutation_p.R203H|NT5C1B_uc010yju.1_Missense_Mutation_p.R201H|NT5C1B_uc002rda.2_Missense_Mutation_p.R201H|NT5C1B_uc010yjv.1_Missense_Mutation_p.R278H|NT5C1B_uc010yjw.1_Missense_Mutation_p.R244H|NT5C1B_uc010exs.2_Missense_Mutation_p.R263H|NT5C1B_uc002rdb.1_Missense_Mutation_p.R53H	p.R261H	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			5	886	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	261					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.782G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167343	0.21621	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89617	-2.54	4.35	-5.98	0.02220	.	2.905240	0.01104	N	0.005451	T	0.76399	0.3982	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.19817	0.039;0.039;0.018;0.039;0.001;0.017;0.031;0.018;0.031	B;B;B;B;B;B;B;B;B	0.12156	0.004;0.004;0.003;0.004;0.001;0.004;0.006;0.003;0.007	T	0.63985	-0.6513	10	0.48119	T	0.1	1.0447	3.4346	0.07441	0.0964:0.1383:0.3586:0.4068	.	244;278;201;244;203;53;201;261;261	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	H	261;203;201;261	ENSP00000412639:R203H	ENSP00000305979:R201H	R	-	2	0	NT5C1B-RDH14;NT5C1B	18629382	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.363000	0.01081	-1.243000	0.02519	-0.502000	0.04539	CGC		0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			4	24	0	0	0	0	4	24				
ADCY3	109	broad.mit.edu	37	2	25042974	25042974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:25042974C>T	ENST00000260600.5	-	21	4113	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.E675K	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1088					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 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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTTGGGTTTCTTCTACCACC	0.612																																						uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(3262-3264)GAA>AAA		adenylate cyclase 3							47.0	44.0	45.0					2																	25042974		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25042974C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3262G>A	2.37:g.25042974C>T	ENSP00000260600:p.Glu1088Lys					ADCY3_uc002rfr.3_Missense_Mutation_p.E675K|ADCY3_uc010ykm.1_Missense_Mutation_p.E1089K	p.E1088K	NM_004036	NP_004027	O60266	ADCY3_HUMAN			21	3461	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1088			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.3262G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	37	6.224876	0.97390	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	D;D	0.81821	-1.54;-1.54	5.68	5.68	0.88126	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.148621	0.64402	D	0.000014	D	0.88702	0.6508	M	0.70275	2.135	0.80722	D	1	P;D;B	0.58970	0.861;0.984;0.006	P;P;B	0.61800	0.761;0.894;0.006	D	0.89015	0.3431	10	0.87932	D	0	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	1089;1088;675	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	K	1088;675;1063	ENSP00000260600:E1088K;ENSP00000384484:E675K	ENSP00000260600:E1088K	E	-	1	0	ADCY3	24896478	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	7.729000	0.84864	2.838000	0.97847	0.655000	0.94253	GAA		0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			8	82	0	0	0	0	8	82				
LTBP1	4052	broad.mit.edu	37	2	33487804	33487804	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:33487804G>C	ENST00000404816.2	+	14	2787	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	LTBP1_ENST00000404525.1_Missense_Mutation_p.D433H|LTBP1_ENST00000402934.1_Missense_Mutation_p.D433H|LTBP1_ENST00000418533.2_Missense_Mutation_p.D486H|LTBP1_ENST00000354476.3_Missense_Mutation_p.D812H|LTBP1_ENST00000407925.1_Missense_Mutation_p.D486H|LTBP1_ENST00000390003.4_Missense_Mutation_p.D486H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	812					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTCATTGGATCAAGAGAA	0.368																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2434-2436)GAT>CAT		latent transforming growth factor beta binding							70.0	71.0	71.0					2																	33487804		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33487804G>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2434G>C	2.37:g.33487804G>C	ENSP00000386043:p.Asp812His					LTBP1_uc002rot.2_Missense_Mutation_p.D486H|LTBP1_uc002rou.2_Missense_Mutation_p.D486H|LTBP1_uc002rov.2_Missense_Mutation_p.D433H|LTBP1_uc010ymz.1_Missense_Mutation_p.D486H|LTBP1_uc010yna.1_Missense_Mutation_p.D433H	p.D812H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			14	2434	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	812					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2434G>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488874	0.64074	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.41;-1.36;-1.32;-1.36;-1.35;-1.33;1.68;0.29	5.33	5.33	0.75918	.	.	.	.	.	D	0.85053	0.5609	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.956;0.917;0.983;0.999;0.969	D	0.84963	0.0878	9	0.45353	T	0.12	.	16.2047	0.82120	0.0:0.0:1.0:0.0	.	812;486;433;486;486;812	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	H	812;812;486;486;433;433;486;140;129	ENSP00000386043:D812H;ENSP00000346467:D812H;ENSP00000374653:D486H;ENSP00000393057:D486H;ENSP00000384373:D433H;ENSP00000385359:D433H;ENSP00000384091:D486H;ENSP00000415412:D140H;ENSP00000417591:D129H	ENSP00000346467:D812H	D	+	1	0	LTBP1	33341308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.755000	0.47540	2.495000	0.84180	0.655000	0.94253	GAT		0.368	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	107	0	0	0	0	11	107				
FAM98A	25940	broad.mit.edu	37	2	33809952	33809952	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:33809952C>T	ENST00000238823.8	-	8	1588	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Missense_Mutation_p.R288K			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	484	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTGGCTCCCTCTTCCTCCCCA	0.562																																						uc002rpa.1		NA																	0				ovary(1)	1						c.(1447-1449)AGA>AAA		hypothetical protein LOC25940							207.0	182.0	190.0					2																	33809952		2203	4300	6503	SO:0001583	missense	25940							g.chr2:33809952C>T		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1448G>A	2.37:g.33809952C>T	ENSP00000238823:p.Arg483Lys					FAM98A_uc010yne.1_Missense_Mutation_p.R288K|FAM98A_uc010ynd.1_Missense_Mutation_p.R314K|FAM98A_uc002roz.1_Missense_Mutation_p.R321K	p.R483K	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			8	1522	-	all_hematologic(175;0.115)		484			Gly-rich.		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.1448G>A	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659623	0.47572	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;T	0.56611	0.69;0.45	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.53249	1.67	0.47698	D	0.999499	B;B;B;B	0.19073	0.033;0.012;0.007;0.012	B;B;B;B	0.16289	0.015;0.015;0.007;0.015	T	0.47649	-0.9101	10	0.52906	T	0.07	-9.611	15.3394	0.74284	0.0:0.9335:0.0:0.0665	.	484;314;483;321	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	K	483;484;288	ENSP00000238823:R483K;ENSP00000408716:R288K	ENSP00000238823:R483K	R	-	2	0	FAM98A	33663456	1.000000	0.71417	0.808000	0.32385	0.677000	0.39632	7.435000	0.80391	1.585000	0.49928	-0.136000	0.14681	AGA		0.562	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		46	300	0	0	0	0	46	300				
GCFC2	6936	broad.mit.edu	37	2	75915055	75915055	+	Missense_Mutation	SNP	C	C	T	rs370757430		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:75915055C>T	ENST00000321027.3	-	11	1721	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.E492K|MRPL19_ENST00000358788.6_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	530					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)										TCCATAAATTCTTCTACAGAT	0.318																																						uc002sno.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1588-1590)GAA>AAA		hypothetical protein LOC6936							61.0	64.0	63.0					2																	75915055		2203	4298	6501	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75915055C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1588G>A	2.37:g.75915055C>T	ENSP00000318690:p.Glu530Lys					C2orf3_uc010ffs.2_Missense_Mutation_p.E92K|C2orf3_uc002snn.2_Missense_Mutation_p.E361K|C2orf3_uc010fft.2_Missense_Mutation_p.E205K	p.E530K	NM_003203	NP_003194	P16383	GCF_HUMAN			11	1718	-			530					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1588G>A	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701131	0.30142	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.41400	1.0;1.0	5.7	2.92	0.33932	GC-rich sequence DNA-binding factor domain (1);	0.272266	0.42548	N	0.000695	T	0.28632	0.0709	L	0.41824	1.3	0.80722	D	1	B	0.18013	0.025	B	0.20184	0.028	T	0.07888	-1.0749	10	0.06757	T	0.87	-10.4182	10.0096	0.41979	0.0:0.7748:0.0:0.2252	.	530	P16383	GCF_HUMAN	K	530;492	ENSP00000318690:E530K;ENSP00000386552:E492K	ENSP00000318690:E530K	E	-	1	0	C2orf3	75768563	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	1.121000	0.31283	0.430000	0.26230	0.655000	0.94253	GAA		0.318	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		4	134	0	0	0	0	4	134				
LRRTM1	347730	broad.mit.edu	37	2	80530589	80530589	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:80530589G>A	ENST00000295057.3	-	2	1012	c.356C>T	c.(355-357)aCg>aTg	p.T119M	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T119M	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	119					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)				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						GGAACTCAGCGTGAGTTCCTT	0.582										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(355-357)ACG>ATG		leucine rich repeat transmembrane neuronal 1							191.0	183.0	186.0					2																	80530589		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530589G>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.356C>T	2.37:g.80530589G>A	ENSP00000295057:p.Thr119Met	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.T119M	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	626	-			119			LRR 2.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.356C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743908	0.49151	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.79940	-1.32;-1.32;4.28;4.28	4.64	4.64	0.57946	.	0.122041	0.53938	U	0.000041	T	0.80534	0.4641	L	0.28649	0.875	0.45239	D	0.998246	D	0.61080	0.989	P	0.55055	0.767	T	0.79738	-0.1677	9	.	.	.	.	17.4881	0.87694	0.0:0.0:1.0:0.0	.	119	Q86UE6	LRRT1_HUMAN	M	119	ENSP00000295057:T119M;ENSP00000386646:T119M;ENSP00000415368:T119M;ENSP00000389473:T119M	.	T	-	2	0	LRRTM1	80384100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.531000	0.67148	2.109000	0.64355	0.543000	0.68304	ACG		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		58	179	0	0	0	0	58	179				
PDCL3	79031	broad.mit.edu	37	2	101188229	101188229	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:101188229G>A	ENST00000264254.6	+	5	924	c.546G>A	c.(544-546)ctG>ctA	p.L182L		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	182	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTGGTCCTCTGGTGTTTGGCG	0.493																																						uc002tao.2		NA																	0					0						c.(544-546)CTG>CTA		phosducin-like 3							119.0	130.0	127.0					2																	101188229		2203	4300	6503	SO:0001819	synonymous_variant	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188229G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.546G>A	2.37:g.101188229G>A							p.L182L	NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN			5	658	+			182					B2RA00|Q53S68	Silent	SNP	ENST00000264254.6	37	c.546G>A	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	9.835	1.189337	0.21954	.	.	ENSG00000115539	ENST00000450127	.	.	.	4.89	1.63	0.23807	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2472	6.061	0.19839	0.2203:0.0:0.639:0.1406	.	.	.	.	X	130	.	.	W	+	2	0	PDCL3	100554661	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.251000	0.18257	0.440000	0.26502	0.650000	0.86243	TGG		0.493	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		11	235	0	0	0	0	11	235				
MRPS9	64965	broad.mit.edu	37	2	105708870	105708870	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:105708870C>T	ENST00000258455.3	+	8	773	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	221					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATATGCAGTTCATTCGGCTGC	0.353																																						uc002tcn.3		NA																	0					0						c.(661-663)TTC>TTT		mitochondrial ribosomal protein S9 precursor							85.0	83.0	84.0					2																	105708870		2203	4300	6503	SO:0001819	synonymous_variant	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105708870C>T		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.663C>T	2.37:g.105708870C>T							p.F221F	NM_182640	NP_872578	P82933	RT09_HUMAN			8	731	+			221					Q6PG40	Silent	SNP	ENST00000258455.3	37	c.663C>T	CCDS2065.1																																																																																				0.353	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		17	77	0	0	0	0	17	77				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						uc010ywi.1		NA																	6	Substitution - Missense(6)		endometrium(6)	ovary(1)	1						c.(2266-2268)AAC>GAC		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp						p.N756D	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			16	2323	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	301	0	0	0	0	5	301				
WDR33	55339	broad.mit.edu	37	2	128477169	128477169	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:128477169C>T	ENST00000322313.4	-	16	2588	c.2430G>A	c.(2428-2430)atG>atA	p.M810I		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	810					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAGGTCCTCTCATCTCTTGAG	0.617																																						uc002tpg.1		NA																	0					0						c.(2428-2430)ATG>ATA		WD repeat domain 33 isoform 1							30.0	34.0	33.0					2																	128477169		2203	4298	6501	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477169C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2430G>A	2.37:g.128477169C>T	ENSP00000325377:p.Met810Ile						p.M810I	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2613	-	Colorectal(110;0.1)		810					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2430G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598084	0.28445	.	.	ENSG00000136709	ENST00000322313	D	0.89196	-2.48	5.82	5.82	0.92795	.	0.098818	0.64402	D	0.000005	T	0.80465	0.4628	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74481	-0.3651	10	0.36615	T	0.2	-2.1796	14.2722	0.66157	0.0:0.9293:0.0:0.0707	.	810	Q9C0J8	WDR33_HUMAN	I	810	ENSP00000325377:M810I	ENSP00000325377:M810I	M	-	3	0	WDR33	128193639	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.376000	0.34306	2.752000	0.94435	0.655000	0.94253	ATG		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		12	100	0	0	0	0	12	100				
LRP1B	53353	broad.mit.edu	37	2	142888281	142888281	+	Silent	SNP	G	G	C	rs139525868		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:142888281G>C	ENST00000389484.3	-	1	989	c.18C>G	c.(16-18)ctC>ctG	p.L6L	AC078882.1_ENST00000436132.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	6					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGTAAGGCGAGGAGAAACT	0.677										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(16-18)CTC>CTG		low density lipoprotein-related protein 1B							69.0	58.0	62.0					2																	142888281		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142888281G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.18C>G	2.37:g.142888281G>C		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.L43L	p.L6L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	1	990	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	6					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.18C>G	CCDS2182.1																																																																																				0.677	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	14	0	0	0	0	5	14				
GTF3C3	9330	broad.mit.edu	37	2	197656160	197656160	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:197656160G>A	ENST00000263956.3	-	4	525	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Missense_Mutation_p.P146S	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	146					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)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGAGCTCTGGGAAGTTTACTC	0.393																																						uc002uts.2		NA																	0				ovary(3)|breast(3)|pancreas(1)	7						c.(436-438)CCC>TCC		general transcription factor IIIC, polypeptide							96.0	93.0	94.0					2																	197656160		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197656160G>A	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.436C>T	2.37:g.197656160G>A	ENSP00000263956:p.Pro146Ser					GTF3C3_uc010zgu.1_Missense_Mutation_p.P146S|GTF3C3_uc002utu.2_Missense_Mutation_p.P146S	p.P146S	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			4	526	-			146					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.436C>T	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431198	0.83776	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.53640	0.69;0.61	4.74	4.74	0.60224	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.33668	1.02	0.80722	D	1	P;D	0.89917	0.812;1.0	P;D	0.91635	0.58;0.999	T	0.43393	-0.9394	10	0.07990	T	0.79	-15.7724	17.903	0.88910	0.0:0.0:1.0:0.0	.	146;146	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	S	146	ENSP00000263956:P146S;ENSP00000386465:P146S	ENSP00000263956:P146S	P	-	1	0	GTF3C3	197364405	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.469000	0.97679	2.467000	0.83353	0.591000	0.81541	CCC		0.393	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			6	109	0	0	0	0	6	109				
FN1	2335	broad.mit.edu	37	2	216292957	216292957	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:216292957C>T	ENST00000359671.1	-	6	1055	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	FN1_ENST00000426059.1_Missense_Mutation_p.G264S|FN1_ENST00000356005.4_Missense_Mutation_p.G264S|FN1_ENST00000346544.3_Missense_Mutation_p.G264S|FN1_ENST00000357009.2_Missense_Mutation_p.G264S|FN1_ENST00000421182.1_Missense_Mutation_p.G264S|FN1_ENST00000345488.5_Missense_Mutation_p.G264S|FN1_ENST00000357867.4_Missense_Mutation_p.G264S|FN1_ENST00000446046.1_Missense_Mutation_p.G264S|FN1_ENST00000443816.1_Missense_Mutation_p.G264S|FN1_ENST00000354785.4_Missense_Mutation_p.G264S|FN1_ENST00000323926.6_Missense_Mutation_p.G264S|FN1_ENST00000336916.4_Missense_Mutation_p.G264S|FN1_ENST00000432072.2_Missense_Mutation_p.G264S			P02751	FINC_HUMAN	fibronectin 1	264	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G264S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTCCTCGGCCGTTGCCTGTG	0.557																																						uc002vfa.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(790-792)GGC>AGC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	111.0	119.0					2																	216292957		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292957C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.790G>A	2.37:g.216292957C>T	ENSP00000352696:p.Gly264Ser					FN1_uc002vfb.2_Missense_Mutation_p.G264S|FN1_uc002vfc.2_Missense_Mutation_p.G264S|FN1_uc002vfd.2_Missense_Mutation_p.G264S|FN1_uc002vfe.2_Missense_Mutation_p.G264S|FN1_uc002vff.2_Missense_Mutation_p.G264S|FN1_uc002vfg.2_Missense_Mutation_p.G264S|FN1_uc002vfh.2_Missense_Mutation_p.G264S|FN1_uc002vfi.2_Missense_Mutation_p.G264S|FN1_uc002vfj.2_Missense_Mutation_p.G264S|FN1_uc002vfl.2_Missense_Mutation_p.G264S	p.G264S	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1056	-		Renal(323;0.127)	264			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.790G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.001066	0.97189	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55588	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	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.76435	0.3987	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.994;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D;D;D	0.91635	0.985;0.999;0.937;0.857;0.962;0.977;0.99;0.988;0.962;0.962;0.999	T	0.77432	-0.2590	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	264;264;264;264;264;264;264;264;264;264;264	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	264	ENSP00000394423:G264S;ENSP00000323534:G264S;ENSP00000338200:G264S;ENSP00000350534:G264S;ENSP00000346839:G264S;ENSP00000352696:G264S;ENSP00000265312:G264S;ENSP00000273049:G264S;ENSP00000349509:G264S;ENSP00000410422:G264S;ENSP00000415018:G264S;ENSP00000399538:G264S;ENSP00000348285:G264S;ENSP00000398907:G264S	ENSP00000265313:G264S	G	-	1	0	FN1	216001202	1.000000	0.71417	0.977000	0.42913	0.887000	0.51463	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GGC		0.557	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		43	96	0	0	0	0	43	96				
RUFY4	285180	broad.mit.edu	37	2	218954013	218954013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:218954013C>G	ENST00000344321.7	+	12	2059	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C	RUFY4_ENST00000374155.3_Missense_Mutation_p.S534C|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	514							metal ion binding (GO:0046872)	p.S534C(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGCATCTCTCTTCCATGGCT	0.542																																						uc002vgw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(1)	1						c.(1021-1023)TCT>TGT		RUN and FYVE domain containing 4							58.0	61.0	60.0					2																	218954013		1949	4149	6098	SO:0001583	missense	285180						metal ion binding	g.chr2:218954013C>G	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1541C>G	2.37:g.218954013C>G	ENSP00000345900:p.Ser514Cys					RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.S341C	p.S341C	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	13	2866	+		Renal(207;0.0915)	514			FYVE-type.		Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37	c.1022C>G		.	.	.	.	.	.	.	.	.	.	C	14.34	2.506845	0.44558	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.77358	-1.09;0.57	4.92	4.92	0.64577	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.129874	0.35805	N	0.002974	D	0.86435	0.5932	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.87329	0.2323	10	0.62326	D	0.03	-7.7414	13.4973	0.61434	0.0:1.0:0.0:0.0	.	514	Q6ZNE9	RUFY4_HUMAN	C	514;534	ENSP00000345900:S514C;ENSP00000363270:S534C	ENSP00000345900:S514C	S	+	2	0	RUFY4	218662258	0.727000	0.28069	0.361000	0.25849	0.162000	0.22319	3.525000	0.53502	2.572000	0.86782	0.555000	0.69702	TCT		0.542	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		8	53	0	0	0	0	8	53				
HDLBP	3069	broad.mit.edu	37	2	242196114	242196114	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:242196114G>A	ENST00000391975.1	-	6	785	c.558C>T	c.(556-558)atC>atT	p.I186I	HDLBP_ENST00000391976.2_Silent_p.I186I|HDLBP_ENST00000427183.2_Silent_p.I222I|HDLBP_ENST00000310931.4_Silent_p.I186I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	186	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.I186I(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGGGCGTGGGATCTGGATTT	0.483																																						uc002waz.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	breast(3)|skin(1)	4						c.(556-558)ATC>ATT		high density lipoprotein binding protein							210.0	195.0	200.0					2																	242196114		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242196114G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.558C>T	2.37:g.242196114G>A						HDLBP_uc002wba.2_Silent_p.I186I|HDLBP_uc002wbb.2_Silent_p.I207I|HDLBP_uc010fzn.1_5'UTR	p.I186I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	6	786	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	186			KH 1.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.558C>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.102|2.102	-0.405783|-0.405783	0.04832|0.04832	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000453141	.|.	.|.	.|.	6.17|6.17	4.08|4.08	0.47627|0.47627	.|.	.|.	.|.	.|.	.|.	T|T	0.62245|0.62245	0.2412|0.2412	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61058|0.61058	-0.7139|-0.7139	4|4	.|.	.|.	.|.	-22.623|-22.623	11.2768|11.2768	0.49172|0.49172	0.2121:0.0:0.7879:0.0|0.2121:0.0:0.7879:0.0	.|.	.|.	.|.	.|.	S|F	64|87	.|.	.|.	P|S	-|-	1|2	0|0	HDLBP|HDLBP	241844787|241844787	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.010000|0.010000	0.07245|0.07245	6.702000|6.702000	0.74628|0.74628	1.620000|1.620000	0.50308|0.50308	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.483	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		6	135	0	0	0	0	6	135				
GGT7	2686	broad.mit.edu	37	20	33444646	33444646	+	Silent	SNP	G	G	A	rs3746452	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:33444646G>A	ENST00000336431.5	-	8	1109	c.1065C>T	c.(1063-1065)agC>agT	p.S355S		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	355					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)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCACAAGGGCGCTGTAATTGC	0.602													G|||	6	0.00119808	0.0	0.0	5008	,	,		18237	0.006		0.0	False		,,,				2504	0.0					uc002xay.2		NA																	0				ovary(1)	1						c.(1063-1065)AGC>AGT		gamma-glutamyltransferase 7							104.0	77.0	86.0					20																	33444646		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33444646G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1065C>T	20.37:g.33444646G>A						GGT7_uc002xaz.1_Silent_p.S372S	p.S355S	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			8	1108	-			355			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1065C>T	CCDS13242.2																																																																																				0.602	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		4	32	0	0	0	0	4	32				
TOP1	7150	broad.mit.edu	37	20	39744053	39744053	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:39744053G>T	ENST00000361337.2	+	16	1931	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	561					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CAAGCAGCCCGAGGATGATCT	0.383			T	NUP98	AML*																																	uc002xjl.2		NA		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(1681-1683)GAG>TAG		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						82.0	76.0	78.0					20																	39744053		2203	4300	6503	SO:0001587	stop_gained	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39744053G>T		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1681G>T	20.37:g.39744053G>T	ENSP00000354522:p.Glu561*					uc002xjn.1_Intron	p.E561*	NM_003286	NP_003277	P11387	TOP1_HUMAN			16	1927	+		Myeloproliferative disorder(115;0.00878)	561					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Nonsense_Mutation	SNP	ENST00000361337.2	37	c.1681G>T	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	40	8.446025	0.98815	.	.	ENSG00000198900	ENST00000361337	.	.	.	6.17	5.22	0.72569	.	0.143348	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-26.2101	15.9972	0.80260	0.065:0.0:0.935:0.0	.	.	.	.	X	561	.	ENSP00000354522:E561X	E	+	1	0	TOP1	39177467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.013000	0.88655	2.941000	0.99782	0.655000	0.94253	GAG		0.383	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			19	121	1	0	8.05e-18	9.04e-18	19	121				
L3MBTL1	26013	broad.mit.edu	37	20	42163513	42163513	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:42163513G>A	ENST00000427442.2	+	16	1849	c.1690G>A	c.(1690-1692)Gct>Act	p.A564T	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A496T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A564T|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.A496T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A496T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	496					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A496T(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTGGATCGACGCTGACCACCC	0.577																																						uc010zwh.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1690-1692)GCT>ACT		l(3)mbt-like isoform I							84.0	70.0	75.0					20																	42163513		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42163513G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1690G>A	20.37:g.42163513G>A	ENSP00000402107:p.Ala564Thr					L3MBTL_uc002xkl.2_Missense_Mutation_p.A496T|L3MBTL_uc002xkm.2_Missense_Mutation_p.A496T|L3MBTL_uc010ggl.2_Missense_Mutation_p.A496T|L3MBTL_uc002xkn.1_Missense_Mutation_p.A255T|L3MBTL_uc002xko.2_Missense_Mutation_p.A148T	p.A564T	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		16	1736	+		Myeloproliferative disorder(115;0.00452)	496			MBT 3.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1690G>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807150	0.50421	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.85	3.68	0.42216	.	0.169417	0.52532	D	0.000067	T	0.38692	0.1050	M	0.65677	2.01	0.38515	D	0.948562	P;P;D;P	0.56035	0.851;0.818;0.974;0.889	B;B;P;P	0.51079	0.205;0.191;0.658;0.508	T	0.40924	-0.9537	10	0.08599	T	0.76	.	14.8369	0.70190	0.0:0.0:0.6874:0.3126	.	564;148;496;496	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	T	564;564;496;496;496;282;148	ENSP00000402107:A564T;ENSP00000398516:A564T;ENSP00000362227:A496T;ENSP00000403316:A496T;ENSP00000362226:A496T;ENSP00000410139:A282T	ENSP00000362225:A148T	A	+	1	0	L3MBTL1	41596927	0.999000	0.42202	0.741000	0.31004	0.992000	0.81027	2.580000	0.46068	1.434000	0.47414	0.655000	0.94253	GCT		0.577	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	44	0	0	0	0	5	44				
RIMS4	140730	broad.mit.edu	37	20	43379005	43379005	+	IGR	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:43379005C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.L173L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						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)				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)				CCCTGGCCCTCGGGGCCGTCG	0.672																																						uc002xmr.2		NA																	0					0						c.(517-519)CTC>CTT		potassium family, subfamily K, member 15							30.0	29.0	29.0					20																	43379005		2203	4299	6502	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43379005C>T		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		20.37:g.43379005C>T							p.L173L	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	583	+		Myeloproliferative disorder(115;0.0122)	173			Helical; (Potential).		A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	ENST00000372851.3	37	c.519C>T	CCDS13338.1																																																																																				0.672	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		12	53	0	0	0	0	12	53				
WFDC8	90199	broad.mit.edu	37	20	44180733	44180733	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:44180733C>T	ENST00000357199.4	-	6	736	c.658G>A	c.(658-660)Gag>Aag	p.E220K	WFDC8_ENST00000289953.2_Missense_Mutation_p.E220K	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	220	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCACTCCTCATCCTGCAGG	0.423																																						uc002xow.2		NA																	0					0						c.(658-660)GAG>AAG		WAP four-disulfide core domain 8 precursor							144.0	128.0	133.0					20																	44180733		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180733C>T	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.658G>A	20.37:g.44180733C>T	ENSP00000361735:p.Glu220Lys					WFDC8_uc002xox.2_Missense_Mutation_p.E220K	p.E220K	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			6	737	-		Myeloproliferative disorder(115;0.0122)	220			WAP 3.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.658G>A	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400977	0.11696	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72282	-0.64;-0.64	4.64	-9.29	0.00653	Whey acidic protein, 4-disulphide core (4);	5.175160	0.00166	N	0.000009	T	0.40040	0.1101	N	0.11789	0.175	0.09310	N	1	B	0.18013	0.025	B	0.19946	0.027	T	0.49370	-0.8947	10	0.06236	T	0.91	.	1.3119	0.02100	0.2169:0.1434:0.1883:0.4513	.	220	Q8IUA0	WFDC8_HUMAN	K	220	ENSP00000361735:E220K;ENSP00000289953:E220K	ENSP00000289953:E220K	E	-	1	0	WFDC8	43614147	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.430000	0.01024	-2.532000	0.00491	-0.271000	0.10264	GAG		0.423	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			8	305	0	0	0	0	8	305				
ARFGEF2	10564	broad.mit.edu	37	20	47639640	47639640	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:47639640G>T	ENST00000371917.4	+	35	4677	c.4677G>T	c.(4675-4677)ttG>ttT	p.L1559F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1559					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTTGGAATTGATACAGACCA	0.453																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(4675-4677)TTG>TTT		ADP-ribosylation factor guanine							151.0	129.0	137.0					20																	47639640		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47639640G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4677G>T	20.37:g.47639640G>T	ENSP00000360985:p.Leu1559Phe					ARFGEF2_uc010zyf.1_Missense_Mutation_p.L852F	p.L1559F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		35	4829	+			1559					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4677G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005075	0.74932	.	.	ENSG00000124198	ENST00000371917	T	0.60171	0.21	5.9	4.93	0.64822	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.79070	0.4384	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82985	-0.0185	10	0.87932	D	0	.	11.8449	0.52378	0.0:0.1327:0.7292:0.1381	.	1559	Q9Y6D5	BIG2_HUMAN	F	1559	ENSP00000360985:L1559F	ENSP00000360985:L1559F	L	+	3	2	ARFGEF2	47073047	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.934000	0.56553	1.459000	0.47892	0.563000	0.77884	TTG		0.453	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		8	219	1	0	4.69e-08	5.1e-08	8	219				
TSHZ2	128553	broad.mit.edu	37	20	51873085	51873085	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:51873085G>C	ENST00000371497.5	+	2	3975	c.3088G>C	c.(3088-3090)Gac>Cac	p.D1030H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D1027H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D1027H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1030					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)			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)			GTTTGTAACAGACGTGGATGA	0.483																																						uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(3088-3090)GAC>CAC		teashirt zinc finger homeobox 2							128.0	125.0	126.0					20																	51873085		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873085G>C	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.3088G>C	20.37:g.51873085G>C	ENSP00000360552:p.Asp1030His						p.D1030H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	4044	+			1030					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3088G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462907	0.84425	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15372	2.43;2.43	5.53	5.53	0.82687	.	0.100800	0.64402	D	0.000003	T	0.23014	0.0556	N	0.08118	0	0.58432	D	0.999994	P	0.51933	0.949	P	0.59948	0.866	T	0.27123	-1.0083	10	0.87932	D	0	-7.7139	19.4601	0.94914	0.0:0.0:1.0:0.0	.	1030	Q9NRE2	TSH2_HUMAN	H	1030;1027	ENSP00000360552:D1030H;ENSP00000333114:D1027H	ENSP00000333114:D1027H	D	+	1	0	TSHZ2	51306492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.470000	0.97683	2.603000	0.88011	0.643000	0.83706	GAC		0.483	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		7	216	0	0	0	0	7	216				
ZNF831	128611	broad.mit.edu	37	20	57769147	57769147	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:57769147G>A	ENST00000371030.2	+	1	3073	c.3073G>A	c.(3073-3075)Gac>Aac	p.D1025N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1025							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTTGGGGGGGGACAAGGGGGA	0.682																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3073-3075)GAC>AAC		zinc finger protein 831							20.0	23.0	22.0					20																	57769147		2003	4185	6188	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769147G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3073G>A	20.37:g.57769147G>A	ENSP00000360069:p.Asp1025Asn						p.D1025N	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3073	+	all_lung(29;0.0085)		1025					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3073G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027571	0.35797	.	.	ENSG00000124203	ENST00000371030	T	0.06933	3.24	4.49	3.52	0.40303	.	0.911342	0.09308	N	0.819957	T	0.06872	0.0175	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.26770	0.073	T	0.38757	-0.9646	10	0.38643	T	0.18	-4.3528	11.5227	0.50560	0.0:0.3468:0.6532:0.0	.	1025	Q5JPB2	ZN831_HUMAN	N	1025	ENSP00000360069:D1025N	ENSP00000360069:D1025N	D	+	1	0	ZNF831	57202542	0.140000	0.22579	0.008000	0.14137	0.017000	0.09413	1.887000	0.39698	0.987000	0.38709	0.411000	0.27672	GAC		0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	71	0	0	0	0	6	71				
ZNF512B	57473	broad.mit.edu	37	20	62616302	62616302	+	Intron	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:62616302G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.E95K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACCCTACGAGAAAGATGA	0.448																																						uc002yho.2		NA																	0				ovary(2)	2						c.(283-285)GAG>AAG		PRP6 pre-mRNA processing factor 6 homolog							116.0	99.0	105.0					20																	62616302		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62616302G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-16994C>T	20.37:g.62616302G>A						PRPF6_uc002yhp.2_Missense_Mutation_p.E95K	p.E95K	NM_012469	NP_036601	O94906	PRP6_HUMAN			3	451	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		95					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.283G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214010	0.79352	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.78481	-1.18;-1.18	4.9	4.9	0.64082	PRP1 splicing factor, N-terminal (1);	0.150426	0.64402	D	0.000019	T	0.71937	0.3399	L	0.49455	1.56	0.80722	D	1	P;P	0.39551	0.633;0.678	B;B	0.31614	0.133;0.117	T	0.76903	-0.2787	10	0.59425	D	0.04	.	18.5125	0.90921	0.0:0.0:1.0:0.0	.	95;95	O94906-2;O94906	.;PRP6_HUMAN	K	95	ENSP00000266079:E95K;ENSP00000446216:E95K	ENSP00000266079:E95K	E	+	1	0	PRPF6	62086746	1.000000	0.71417	0.292000	0.24919	0.787000	0.44495	9.676000	0.98643	2.443000	0.82685	0.585000	0.79938	GAG		0.448	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		14	63	0	0	0	0	14	63				
DONSON	29980	broad.mit.edu	37	21	34956969	34956969	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr21:34956969C>T	ENST00000303071.5	-	4	778	c.712G>A	c.(712-714)Gat>Aat	p.D238N	DONSON_ENST00000432378.1_Missense_Mutation_p.D238N|DONSON_ENST00000303113.6_Missense_Mutation_p.D224N|DONSON_ENST00000453626.1_Missense_Mutation_p.D238N	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	238					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ATTTTTCTATCAGCTCCAATA	0.448																																						uc002ysk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(712-714)GAT>AAT		downstream neighbor of SON							105.0	96.0	99.0					21																	34956969		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34956969C>T	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.712G>A	21.37:g.34956969C>T	ENSP00000307143:p.Asp238Asn					DONSON_uc002ysn.1_Missense_Mutation_p.D121N|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.D211N|DONSON_uc002ysm.2_Missense_Mutation_p.D238N	p.D238N	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN			4	779	-			238					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.712G>A	CCDS13632.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807880	0.90623	.	.	ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.	.	.	5.99	5.11	0.69529	.	0.143577	0.64402	D	0.000008	T	0.66548	0.2800	L	0.56396	1.775	0.58432	D	0.999999	D;P;D	0.53151	0.958;0.724;0.958	P;P;P	0.56163	0.793;0.474;0.793	T	0.64483	-0.6397	9	0.29301	T	0.29	-45.0793	15.0888	0.72177	0.0:0.9316:0.0:0.0684	.	224;238;238	F8W8A5;C9J4K5;Q9NYP3	.;.;DONS_HUMAN	N	224;238;238;238	.	ENSP00000307143:D238N	D	-	1	0	DONSON	33878839	1.000000	0.71417	0.716000	0.30569	0.998000	0.95712	7.279000	0.78599	1.540000	0.49301	0.655000	0.94253	GAT		0.448	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		4	112	0	0	0	0	4	112				
SPECC1L	23384	broad.mit.edu	37	22	24718349	24718349	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:24718349C>T	ENST00000314328.9	+	5	1686	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.R467R|SPECC1L_ENST00000437398.1_Silent_p.R467R|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.R467R	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	467					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AATACTTCCGCTCTCTTCTAG	0.408																																						uc002zzw.2		NA																	0					0						c.(1399-1401)CGC>CGT		cytospin A							91.0	97.0	95.0					22																	24718349		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24718349C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1401C>T	22.37:g.24718349C>T						CYTSA_uc002zzv.3_Silent_p.R467R|CYTSA_uc011ajq.1_Silent_p.R467R	p.R467R	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1708	+			467					B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.1401C>T	CCDS33619.1																																																																																				0.408	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		43	218	0	0	0	0	43	218				
PIWIL3	440822	broad.mit.edu	37	22	25155901	25155901	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:25155901G>A	ENST00000332271.5	-	3	574	c.158C>T	c.(157-159)cCa>cTa	p.P53L	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	53					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTAACCACTGGGACTTCCTC	0.567																																						uc003abd.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(157-159)CCA>CTA		piwi-like 3							261.0	261.0	261.0					22																	25155901		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25155901G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.158C>T	22.37:g.25155901G>A	ENSP00000330031:p.Pro53Leu					PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.P53L	p.P53L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			3	575	-			53						Missense_Mutation	SNP	ENST00000332271.5	37	c.158C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	8.147	0.786572	0.16189	.	.	ENSG00000184571	ENST00000332271	T	0.04603	3.59	2.52	-2.85	0.05734	.	0.882331	0.09318	N	0.818686	T	0.04543	0.0124	L	0.40543	1.245	0.09310	N	0.999998	B;B	0.29253	0.239;0.031	B;B	0.30943	0.122;0.005	T	0.39761	-0.9598	10	0.46703	T	0.11	0.001	6.5471	0.22412	0.0:0.1355:0.607:0.2575	.	53;53	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	L	53	ENSP00000330031:P53L	ENSP00000330031:P53L	P	-	2	0	PIWIL3	23485901	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-1.098000	0.03346	-0.756000	0.04703	0.655000	0.94253	CCA		0.567	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		109	634	0	0	0	0	109	634				
MYO18B	84700	broad.mit.edu	37	22	26286822	26286822	+	Missense_Mutation	SNP	C	C	T	rs374116001		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:26286822C>T	ENST00000407587.2	+	26	4586	c.4417C>T	c.(4417-4419)Cgg>Tgg	p.R1473W	CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.R1472W|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1472W|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000609820.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1472	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACAGGCCTTCCGGGAGGTCCA	0.612																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4414-4416)CGG>TGG		myosin XVIIIB		C	TRP/ARG	0,4112		0,0,2056	44.0	51.0	49.0		4414	3.3	1.0	22		49	1,8403		0,1,4201	no	missense	MYO18B	NM_032608.5	101	0,1,6257	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1472/2568	26286822	1,12515	2056	4202	6258	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26286822C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4417C>T	22.37:g.26286822C>T	ENSP00000386096:p.Arg1473Trp					MYO18B_uc003aca.1_Missense_Mutation_p.R1353W|MYO18B_uc010guy.1_Missense_Mutation_p.R1354W|MYO18B_uc010guz.1_Missense_Mutation_p.R1353W|MYO18B_uc011aka.1_Missense_Mutation_p.R626W|MYO18B_uc011akb.1_Missense_Mutation_p.R985W	p.R1472W	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			26	4664	+			1472			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4414C>T		.	.	.	.	.	.	.	.	.	.	C	18.94	3.729898	0.69074	0.0	1.19E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.87650	-2.28;-2.28;-1.24	5.48	3.31	0.37934	.	0.000000	0.64402	D	0.000001	D	0.91171	0.7219	M	0.69823	2.125	0.35736	D	0.818311	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.997;0.998	D	0.92608	0.6097	10	0.87932	D	0	.	7.8907	0.29675	0.1907:0.7179:0.0:0.0914	.	985;1472;1473;1472	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	1472;1472;1473	ENSP00000441229:R1472W;ENSP00000334563:R1472W;ENSP00000386096:R1473W	ENSP00000334563:R1472W	R	+	1	2	MYO18B	24616822	0.238000	0.23825	1.000000	0.80357	0.947000	0.59692	0.457000	0.21875	1.324000	0.45282	-0.384000	0.06662	CGG		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	40	0	0	0	0	10	40				
CARD10	29775	broad.mit.edu	37	22	37892475	37892475	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:37892475G>A	ENST00000403299.1	-	14	2256	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	CARD10_ENST00000406271.3_Silent_p.P394P|CARD10_ENST00000251973.5_Silent_p.P680P			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	680					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCATCAGGGAGGGGAGTGTGG	0.637																																						uc003asx.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2038-2040)CCC>CCT		caspase recruitment domain protein 10							73.0	63.0	66.0					22																	37892475		2203	4300	6503	SO:0001819	synonymous_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37892475G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2040C>T	22.37:g.37892475G>A						CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'UTR|CARD10_uc003asw.1_Silent_p.P394P|CARD10_uc003asy.1_Silent_p.P680P	p.P680P	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			13	2043	-	Melanoma(58;0.0574)		680					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	c.2040C>T	CCDS13948.1																																																																																				0.637	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		19	91	0	0	0	0	19	91				
TAB1	10454	broad.mit.edu	37	22	39811028	39811028	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:39811028G>T	ENST00000216160.6	+	2	113	c.51G>T	c.(49-51)tgG>tgT	p.W17C	TAB1_ENST00000331454.3_Missense_Mutation_p.W17C	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	17					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGCCAAGCTGGACAGATGACC	0.612																																						uc003axt.2		NA																	0				breast(1)	1						c.(49-51)TGG>TGT		mitogen-activated protein kinase kinase kinase 7							43.0	35.0	38.0					22																	39811028		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding	g.chr22:39811028G>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.51G>T	22.37:g.39811028G>T	ENSP00000216160:p.Trp17Cys					TAB1_uc003axr.2_Missense_Mutation_p.W93C|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.W17C	p.W17C	NM_006116	NP_006107	Q15750	TAB1_HUMAN			2	100	+			17					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.51G>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258111	0.80246	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.77489	-1.1;-1.03	4.85	4.85	0.62838	Protein phosphatase 2C-like (2);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.98;0.986	D	0.89721	0.3919	10	0.72032	D	0.01	-15.3691	18.1569	0.89694	0.0:0.0:1.0:0.0	.	17;17;161	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	C	17	ENSP00000216160:W17C;ENSP00000333049:W17C	ENSP00000216160:W17C	W	+	3	0	TAB1	38140974	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.539000	0.90637	2.510000	0.84645	0.655000	0.94253	TGG		0.612	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		9	31	1	0	2.81e-09	3.06e-09	9	31				
SAMM50	25813	broad.mit.edu	37	22	44360402	44360402	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:44360402G>C	ENST00000350028.4	+	3	360	c.203G>C	c.(202-204)gGa>gCa	p.G68A	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_5'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	68					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTGAAATTGGAGATGTTTTC	0.408																																						uc003bej.2		NA																	0				skin(1)	1						c.(202-204)GGA>GCA		sorting and assembly machinery component 50							227.0	200.0	209.0					22																	44360402		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44360402G>C	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.203G>C	22.37:g.44360402G>C	ENSP00000345445:p.Gly68Ala					PNPLA3_uc010gzm.1_RNA|SAMM50_uc011aqd.1_5'UTR	p.G68A	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN			3	400	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	68					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.203G>C	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	7.707	0.694320	0.15039	.	.	ENSG00000100347	ENST00000350028	T	0.29142	1.58	4.97	4.97	0.65823	.	0.199338	0.41938	D	0.000785	T	0.16128	0.0388	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09907	-1.0653	9	.	.	.	-25.3056	14.0612	0.64802	0.0:0.163:0.837:0.0	.	68	Q9Y512	SAM50_HUMAN	A	68	ENSP00000345445:G68A	.	G	+	2	0	SAMM50	42691735	0.305000	0.24481	1.000000	0.80357	0.997000	0.91878	3.149000	0.50655	2.455000	0.83008	0.563000	0.77884	GGA		0.408	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		21	151	0	0	0	0	21	151				
MTMR14	64419	broad.mit.edu	37	3	9711137	9711137	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:9711137C>A	ENST00000296003.4	+	5	637	c.515C>A	c.(514-516)gCa>gAa	p.A172E	MTMR14_ENST00000351233.5_Missense_Mutation_p.A172E|MTMR14_ENST00000353332.5_Missense_Mutation_p.A172E|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	172					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GATGCCTGGGCAGATGTGGAG	0.612																																						uc003brz.2		NA																	0				skin(1)	1						c.(514-516)GCA>GAA		jumpy isoform 2							167.0	184.0	178.0					3																	9711137		2128	4242	6370	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9711137C>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.515C>A	3.37:g.9711137C>A	ENSP00000296003:p.Ala172Glu					MTMR14_uc003bsa.2_Missense_Mutation_p.A172E|MTMR14_uc003bsb.2_Missense_Mutation_p.A172E|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	p.A172E	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN			5	639	+	Medulloblastoma(99;0.227)		172					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.515C>A	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184328	0.38609	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	T;T;T	0.14391	2.51;2.51;2.51	5.55	4.66	0.58398	.	0.162492	0.53938	D	0.000050	T	0.11707	0.0285	L	0.31664	0.95	0.48830	D	0.999719	P;B;B	0.45212	0.853;0.321;0.004	B;B;B	0.42138	0.377;0.208;0.006	T	0.09707	-1.0662	10	0.11182	T	0.66	-7.6267	15.8877	0.79264	0.0:0.864:0.136:0.0	.	172;172;172	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	E	172	ENSP00000323462:A172E;ENSP00000296003:A172E;ENSP00000334070:A172E	ENSP00000296003:A172E	A	+	2	0	MTMR14	9686137	1.000000	0.71417	0.952000	0.39060	0.998000	0.95712	3.865000	0.56033	1.310000	0.45006	0.650000	0.86243	GCA		0.612	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		17	101	1	0	2.35e-11	2.61e-11	17	101				
EFHB	151651	broad.mit.edu	37	3	19961420	19961420	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:19961420G>A	ENST00000295824.9	-	3	1062	c.901C>T	c.(901-903)Cct>Tct	p.P301S	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.P171S	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	301							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACTCCAGCAGGTGGATATCTG	0.343																																						uc003cbl.3		NA																	0					0						c.(901-903)CCT>TCT		EF hand domain family, member B							103.0	112.0	109.0					3																	19961420		2203	4298	6501	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19961420G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.901C>T	3.37:g.19961420G>A	ENSP00000295824:p.Pro301Ser					EFHB_uc003cbm.2_Missense_Mutation_p.P171S	p.P301S	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			3	1097	-			301					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.901C>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466608	0.63625	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.29655	1.83;1.88;2.18;1.56	5.04	4.11	0.48088	.	0.310848	0.28268	N	0.015965	T	0.44435	0.1293	M	0.64997	1.995	0.35566	D	0.805102	D;P	0.59767	0.986;0.915	P;B	0.56088	0.791;0.297	T	0.55270	-0.8167	9	.	.	.	-17.1118	13.3907	0.60823	0.0:0.1578:0.8422:0.0	.	171;301	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	S	301;171;301;38	ENSP00000295824:P301S;ENSP00000342263:P171S;ENSP00000373908:P301S;ENSP00000396778:P38S	.	P	-	1	0	EFHB	19936424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.018000	0.40991	2.485000	0.83878	0.561000	0.74099	CCT		0.343	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		31	159	0	0	0	0	31	159				
ZCWPW2	152098	broad.mit.edu	37	3	28520338	28520338	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:28520338A>G	ENST00000383768.2	+	5	714	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K176E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	176							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GAAGTGGTATAAAAGTGCACT	0.274																																						uc003ceh.2		NA																	0				ovary(2)	2						c.(526-528)AAA>GAA		zinc finger, CW type with PWWP domain 2							65.0	66.0	66.0					3																	28520338		2203	4300	6503	SO:0001583	missense	152098						zinc ion binding	g.chr3:28520338A>G	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.526A>G	3.37:g.28520338A>G	ENSP00000373278:p.Lys176Glu					ZCWPW2_uc003cei.2_Missense_Mutation_p.K176E|ZCWPW2_uc010hfo.2_Translation_Start_Site	p.K176E	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			5	694	+			176						Missense_Mutation	SNP	ENST00000383768.2	37	c.526A>G	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652335	0.29336	.	.	ENSG00000206559	ENST00000383768;ENST00000421010	T;T	0.70749	-0.51;-0.51	4.99	2.33	0.28932	.	0.806868	0.11363	N	0.571668	T	0.49236	0.1545	N	0.19112	0.55	0.23653	N	0.9972	B	0.06786	0.001	B	0.04013	0.001	T	0.28964	-1.0027	10	0.16420	T	0.52	-5.1943	4.9722	0.14121	0.7113:0.0:0.2887:0.0	.	176	Q504Y3	ZCPW2_HUMAN	E	176	ENSP00000373278:K176E;ENSP00000412386:K176E	ENSP00000373278:K176E	K	+	1	0	ZCWPW2	28495342	0.751000	0.28327	0.986000	0.45419	0.920000	0.55202	0.301000	0.19174	0.866000	0.35629	0.477000	0.44152	AAA		0.274	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		10	81	0	0	0	0	10	81				
TRANK1	9881	broad.mit.edu	37	3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:36874112C>T	ENST00000429976.2	-	21	7077	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1727H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5179-5181)CGC>CAC		lupus brain antigen 1							61.0	62.0	61.0					3																	36874112		1883	4100	5983	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874112C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6830G>A	3.37:g.36874112C>T	ENSP00000416168:p.Arg2277His						p.R1727H	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	5482	-			2277					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5180G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351583	0.11182	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33865	1.39;1.8;1.39	5.05	3.23	0.37069	.	0.131761	0.33477	N	0.004876	T	0.19525	0.0469	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14727	-1.0462	10	0.28530	T	0.3	.	5.3537	0.16050	0.0:0.5517:0.1377:0.3105	.	2277	O15050	TRNK1_HUMAN	H	1727;2277;1727	ENSP00000416826:R1727H;ENSP00000416168:R2277H;ENSP00000301807:R1727H	ENSP00000301807:R1727H	R	-	2	0	TRANK1	36849116	0.000000	0.05858	0.024000	0.17045	0.694000	0.40290	0.080000	0.14802	0.613000	0.30089	0.561000	0.74099	CGC		0.478	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	112	0	0	0	0	5	112				
DLEC1	9940	broad.mit.edu	37	3	38105339	38105339	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:38105339G>T	ENST00000308059.6	+	6	1123	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.D368Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D368Y					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGTTGTGCTGATACTCCAGT	0.378																																						uc003cho.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1102-1104)GAT>TAT		deleted in lung and esophageal cancer 1 isoform							166.0	156.0	159.0					3																	38105339		1863	4097	5960	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38105339G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1102G>T	3.37:g.38105339G>T	ENSP00000308597:p.Asp368Tyr					DLEC1_uc003chp.1_Missense_Mutation_p.D368Y|DLEC1_uc010hgv.1_Missense_Mutation_p.D368Y|DLEC1_uc010hgw.1_Missense_Mutation_p.D67Y|DLEC1_uc003chq.1_RNA	p.D368Y	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	6	1123	+			368						Missense_Mutation	SNP	ENST00000308059.6	37	c.1102G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463330	0.43736	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.07216	3.22;3.21;3.44	4.67	3.8	0.43715	.	0.392074	0.28566	N	0.014894	T	0.13329	0.0323	M	0.72894	2.215	0.09310	N	1	P;P;P;P	0.50272	0.933;0.933;0.933;0.933	P;B;B;B	0.45794	0.493;0.407;0.407;0.407	T	0.10428	-1.0630	10	0.66056	D	0.02	-5.7446	8.4239	0.32718	0.106:0.0:0.894:0.0	.	368;368;368;368	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	Y	368	ENSP00000308597:D368Y;ENSP00000315914:D368Y;ENSP00000410427:D368Y	ENSP00000308597:D368Y	D	+	1	0	DLEC1	38080343	0.002000	0.14202	0.038000	0.18304	0.884000	0.51177	0.761000	0.26489	1.176000	0.42840	0.650000	0.86243	GAT		0.378	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		33	262	1	0	3.04e-20	3.43e-20	33	262				
ITIH4	3700	broad.mit.edu	37	3	52850976	52850976	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:52850976C>G	ENST00000266041.4	-	21	2491	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	ITIH4_ENST00000485816.1_Missense_Mutation_p.E804Q|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.E783Q|ITIH4_ENST00000406595.1_Missense_Mutation_p.E769Q	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	799					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCACGTGTTCAGGGGATGCG	0.582																																						uc003dfz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2395-2397)GAA>CAA		inter-alpha (globulin) inhibitor H4							161.0	160.0	160.0					3																	52850976		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52850976C>G	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2395G>C	3.37:g.52850976C>G	ENSP00000266041:p.Glu799Gln					ITIH4_uc011bel.1_Missense_Mutation_p.E513Q|ITIH4_uc003dfy.2_Missense_Mutation_p.E594Q|ITIH4_uc011bem.1_Missense_Mutation_p.E804Q|ITIH4_uc011ben.1_Missense_Mutation_p.E769Q	p.E799Q	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2431	-			799					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.2395G>C	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.001|4.001	-0.002573|-0.002573	0.07819|0.07819	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421|ENST00000441637	T;T;T;T|.	0.12465|.	2.68;2.68;2.68;2.68|.	5.47|5.47	3.69|3.69	0.42338|0.42338	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);|.	0.466216|.	0.20937|.	N|.	0.082983|.	T|.	0.61400|.	0.2344|.	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;P|.	0.76494|.	0.998;0.998;0.999;0.542|.	D;D;D;P|.	0.72075|.	0.947;0.971;0.976;0.525|.	T|.	0.57213|.	-0.7850|.	10|.	0.34782|.	T|.	0.22|.	-15.6859|-15.6859	8.361|8.361	0.32359|0.32359	0.0:0.8194:0.0:0.1806|0.0:0.8194:0.0:0.1806	.|.	769;804;799;783|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	Q|S	799;783;804;769;757|587	ENSP00000266041:E799Q;ENSP00000340520:E783Q;ENSP00000417824:E804Q;ENSP00000384425:E769Q|.	ENSP00000266041:E799Q|.	E|X	-|-	1|2	0|2	ITIH4|ITIH4	52826016|52826016	0.291000|0.291000	0.24352|0.24352	0.887000|0.887000	0.34795|0.34795	0.005000|0.005000	0.04900|0.04900	0.848000|0.848000	0.27710|0.27710	0.688000|0.688000	0.31529|0.31529	-0.258000|-0.258000	0.10820|0.10820	GAA|TGA		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		48	296	0	0	0	0	48	296				
POPDC2	64091	broad.mit.edu	37	3	119367500	119367500	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:119367500C>T	ENST00000264231.3	-	3	782	c.616G>A	c.(616-618)Gag>Aag	p.E206K	POPDC2_ENST00000538678.1_Missense_Mutation_p.E206K|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Missense_Mutation_p.E206K|POPDC2_ENST00000468801.1_Missense_Mutation_p.E206K	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	206					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CATGAGGTCTCAGCAGTCAGA	0.473																																						uc003ecx.1		NA																	0				central_nervous_system(1)	1						c.(616-618)GAG>AAG		popeye protein 2							36.0	40.0	38.0					3																	119367500		2202	4298	6500	SO:0001583	missense	64091					integral to membrane		g.chr3:119367500C>T	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.616G>A	3.37:g.119367500C>T	ENSP00000264231:p.Glu206Lys					POPDC2_uc010hqw.1_Missense_Mutation_p.E206K|POPDC2_uc003ecy.1_Missense_Mutation_p.E24K	p.E206K	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	3	750	-			206					Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	c.616G>A	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083779	0.94050	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.94	4.94	0.65067	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.051780	0.85682	D	0.000000	T	0.55000	0.1893	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.98;0.996	T	0.49062	-0.8978	10	0.27082	T	0.32	.	18.3379	0.90295	0.0:1.0:0.0:0.0	.	206;206	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	K	206	ENSP00000264231:E206K;ENSP00000417250:E206K;ENSP00000420715:E206K;ENSP00000438271:E206K	ENSP00000264231:E206K	E	-	1	0	POPDC2	120850190	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	7.591000	0.82666	2.557000	0.86248	0.462000	0.41574	GAG		0.473	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135		9	86	0	0	0	0	9	86				
MAATS1	89876	broad.mit.edu	37	3	119434506	119434506	+	Missense_Mutation	SNP	G	G	A	rs565776294		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:119434506G>A	ENST00000273390.5	+	6	675	c.598G>A	c.(598-600)Gtt>Att	p.V200I	MAATS1_ENST00000463700.1_Missense_Mutation_p.V200I	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	200						mitochondrion (GO:0005739)											GGATGCTGACGTTCAAACAGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		20117	0.0		0.0	False		,,,				2504	0.001					uc003ede.3		NA																	0				ovary(2)|pancreas(1)	3						c.(598-600)GTT>ATT		AAT1-alpha							181.0	167.0	172.0					3																	119434506		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119434506G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.598G>A	3.37:g.119434506G>A	ENSP00000273390:p.Val200Ile					C3orf15_uc003edc.2_Missense_Mutation_p.V200I|C3orf15_uc010hqy.1_Missense_Mutation_p.V200I|C3orf15_uc010hqz.2_Missense_Mutation_p.V138I|C3orf15_uc011bjd.1_Missense_Mutation_p.V74I|C3orf15_uc011bje.1_Missense_Mutation_p.V180I|C3orf15_uc010hra.1_5'UTR	p.V200I	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	6	675	+			200					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.598G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068335	0.36470	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.21932	1.98;1.98	5.32	1.04	0.20106	.	0.537144	0.20275	N	0.095596	T	0.11965	0.0291	L	0.33485	1.01	0.25196	N	0.990099	P;B;B;B;B	0.37276	0.589;0.021;0.03;0.03;0.054	B;B;B;B;B	0.22152	0.038;0.006;0.009;0.007;0.01	T	0.13308	-1.0514	10	0.33141	T	0.24	-14.0073	11.8806	0.52574	0.2571:0.0:0.7429:0.0	.	200;138;200;200;200	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	I	200	ENSP00000273390:V200I;ENSP00000419489:V200I	ENSP00000273390:V200I	V	+	1	0	C3orf15	120917196	1.000000	0.71417	0.519000	0.27824	0.981000	0.71138	3.412000	0.52679	0.283000	0.22279	0.585000	0.79938	GTT		0.463	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		40	335	0	0	0	0	40	335				
POLQ	10721	broad.mit.edu	37	3	121258366	121258366	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:121258366G>C	ENST00000264233.5	-	4	673	c.545C>G	c.(544-546)tCt>tGt	p.S182C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	182	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)		ATCCAATGAAGAGAAATGCCT	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(544-546)TCT>TGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							130.0	125.0	126.0					3																	121258366		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.chr3:121258366G>C	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.545C>G	3.37:g.121258366G>C	ENSP00000264233:p.Ser182Cys						p.S182C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	4	674	-			182			Helicase ATP-binding.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.545C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906962	0.52333	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.16073	2.37	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.422641	0.29119	N	0.013083	T	0.25938	0.0632	M	0.82716	2.605	0.42695	D	0.993593	B	0.34061	0.436	B	0.29267	0.1	T	0.03086	-1.1074	10	0.49607	T	0.09	.	16.051	0.80763	0.0:0.1333:0.8667:0.0	.	182	O75417	DPOLQ_HUMAN	C	182;317	ENSP00000264233:S182C	ENSP00000264233:S182C	S	-	2	0	POLQ	122741056	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.153000	0.71819	2.884000	0.98904	0.655000	0.94253	TCT		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		6	237	0	0	0	0	6	237				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					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)			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						GGAGTTTGTGCGACTTCCAGA	0.597																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(7981-7983)CGA>TGA		kalirin, RhoGEF kinase isoform 1							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	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.chr3:124418865C>T	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	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_uc003ehk.2_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	288	0	0	0	0	5	288				
TF	7018	broad.mit.edu	37	3	133476692	133476692	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:133476692C>G	ENST00000402696.3	+	8	1435	c.950C>G	c.(949-951)tCt>tGt	p.S317C	TF_ENST00000264998.3_Missense_Mutation_p.S190C	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	317	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTTAAGGACTCTGCCCACGGG	0.458																																						uc003epu.1		NA																	0				ovary(1)|skin(1)	2						c.(949-951)TCT>TGT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						95.0	94.0	94.0					3																	133476692		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133476692C>G		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.950C>G	3.37:g.133476692C>G	ENSP00000385834:p.Ser317Cys					TF_uc011blt.1_Missense_Mutation_p.S190C|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.S317C	p.S317C	NM_001063	NP_001054	P02787	TRFE_HUMAN			13	2678	+			317			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.950C>G	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844730	0.71603	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.51071	0.72;0.72	4.91	4.91	0.64330	.	0.050686	0.85682	D	0.000000	T	0.68622	0.3021	M	0.94142	3.5	0.80722	D	1	P	0.40050	0.7	P	0.45712	0.491	T	0.78360	-0.2234	10	0.87932	D	0	-26.7156	17.3891	0.87425	0.0:1.0:0.0:0.0	.	317	P02787	TRFE_HUMAN	C	317;190	ENSP00000385834:S317C;ENSP00000264998:S190C	ENSP00000264998:S190C	S	+	2	0	TF	134959382	1.000000	0.71417	0.988000	0.46212	0.830000	0.47004	3.342000	0.52159	2.712000	0.92718	0.561000	0.74099	TCT		0.458	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		20	191	0	0	0	0	20	191				
PLSCR2	57047	broad.mit.edu	37	3	146171886	146171886	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:146171886A>G	ENST00000497985.1	-	7	1044	c.605T>C	c.(604-606)cTa>cCa	p.L202P	PLSCR2_ENST00000336685.2_Missense_Mutation_p.L129P	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	202					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAACTTTGTTAGACATGGGTG	0.373																																						uc003evv.1		NA																	0					0						c.(385-387)CTA>CCA		phospholipid scramblase 2							102.0	103.0	103.0					3																	146171886		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146171886A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.605T>C	3.37:g.146171886A>G	ENSP00000420132:p.Leu202Pro					PLSCR2_uc003evw.1_Missense_Mutation_p.L198P	p.L129P	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			6	719	-			129			Cytoplasmic (By similarity).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.386T>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.126640	0.37533	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.22945	1.93;1.93;1.93	3.57	0.841	0.18918	.	0.261665	0.18027	U	0.154049	T	0.50429	0.1615	M	0.91717	3.235	0.38283	D	0.94248	D;D	0.67145	0.996;0.994	D;D	0.76071	0.987;0.966	T	0.53507	-0.8429	10	0.30854	T	0.27	.	6.5789	0.22583	0.6896:0.1631:0.0:0.1473	.	222;129	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	P	129;221;202;129	ENSP00000338707:L129P;ENSP00000420132:L202P;ENSP00000418444:L129P	ENSP00000338707:L129P	L	-	2	0	PLSCR2	147654576	0.000000	0.05858	0.004000	0.12327	0.110000	0.19582	0.791000	0.26915	0.532000	0.28657	0.334000	0.21626	CTA		0.373	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		12	147	0	0	0	0	12	147				
MME	4311	broad.mit.edu	37	3	154886339	154886339	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:154886339T>G	ENST00000460393.1	+	19	1959	c.1839T>G	c.(1837-1839)agT>agG	p.S613R	MME_ENST00000493237.1_Missense_Mutation_p.S613R|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.S613R|MME_ENST00000492661.1_Missense_Mutation_p.S613R|MME_ENST00000360490.2_Missense_Mutation_p.S613R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	613					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGTCTGCAAGTAACTTTAAGG	0.408																																						uc010hvr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1837-1839)AGT>AGG		membrane metallo-endopeptidase	Candoxatril(DB00616)						119.0	113.0	115.0					3																	154886339		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154886339T>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1839T>G	3.37:g.154886339T>G	ENSP00000418525:p.Ser613Arg					MME_uc003fab.1_Missense_Mutation_p.S613R|MME_uc003fac.1_Missense_Mutation_p.S613R|MME_uc003fad.1_Missense_Mutation_p.S613R|MME_uc003fae.1_Missense_Mutation_p.S613R	p.S613R	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		19	2050	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	613			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1839T>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	T	8.924	0.961898	0.18583	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.53	-2.81	0.05805	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.861806	0.10729	N	0.640859	T	0.69342	0.3100	N	0.02916	-0.46	0.22378	N	0.999154	B	0.02656	0.0	B	0.01281	0.0	T	0.60100	-0.7329	10	0.19147	T	0.46	-11.8747	1.2857	0.02050	0.1484:0.2671:0.2776:0.307	.	613	P08473	NEP_HUMAN	R	613	ENSP00000420389:S613R;ENSP00000418525:S613R;ENSP00000419653:S613R;ENSP00000417079:S613R;ENSP00000353679:S613R	ENSP00000353679:S613R	S	+	3	2	MME	156369033	0.008000	0.16893	0.981000	0.43875	0.975000	0.68041	-0.881000	0.04179	0.066000	0.16515	0.528000	0.53228	AGT		0.408	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		50	156	0	0	0	0	50	156				
PLCH1	23007	broad.mit.edu	37	3	155203166	155203166	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:155203166C>T	ENST00000340059.7	-	22	2976	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	PLCH1_ENST00000460012.1_Missense_Mutation_p.E955K|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000414191.1_Missense_Mutation_p.E955K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E973K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E993K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E955K	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	993					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTTTCCTTCAATGTCTTTT	0.453																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(2977-2979)GAA>AAA		phospholipase C eta 1 isoform a							88.0	87.0	87.0					3																	155203166		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203166C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2977G>A	3.37:g.155203166C>T	ENSP00000345988:p.Glu993Lys					PLCH1_uc011boj.1_Missense_Mutation_p.E993K|PLCH1_uc011bol.1_Missense_Mutation_p.E955K	p.E993K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3254	-			993					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2977G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829372	0.50845	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.29142	2.12;2.12;1.58;2.12;2.12;2.12	5.88	4.09	0.47781	.	2.067390	0.01559	N	0.020037	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.004;0.0	B;B;B	0.14578	0.011;0.005;0.001	T	0.37291	-0.9712	10	0.06494	T	0.89	.	5.5053	0.16850	0.0:0.638:0.0:0.362	.	955;993;993	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	K	973;955;993;993;955;955	ENSP00000419100:E973K;ENSP00000417502:E955K;ENSP00000402759:E993K;ENSP00000345988:E993K;ENSP00000335469:E955K;ENSP00000412977:E955K	ENSP00000335469:E955K	E	-	1	0	PLCH1	156685860	0.009000	0.17119	0.004000	0.12327	0.700000	0.40528	0.905000	0.28504	1.502000	0.48669	0.655000	0.94253	GAA		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	198	0	0	0	0	13	198				
TACC3	10460	broad.mit.edu	37	4	1730363	1730363	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:1730363G>A	ENST00000313288.4	+	4	1340	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	412					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAAAATGGATGACCCAAACTT	0.632																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1234-1236)GAC>AAC		transforming, acidic coiled-coil containing							78.0	87.0	84.0					4																	1730363		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1730363G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1234G>A	4.37:g.1730363G>A	ENSP00000326550:p.Asp412Asn					TACC3_uc010ibz.2_Missense_Mutation_p.D412N|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	p.D412N	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1342	+		Breast(71;0.212)|all_epithelial(65;0.241)	412					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1234G>A	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633568	0.47049	.	.	ENSG00000013810	ENST00000313288	T	0.27256	1.68	5.4	4.55	0.56014	.	0.380252	0.21086	N	0.080415	T	0.39989	0.1099	L	0.38175	1.15	0.44807	D	0.997819	D;D	0.67145	0.996;0.993	D;P	0.66497	0.944;0.834	T	0.17501	-1.0367	10	0.49607	T	0.09	-27.264	15.5813	0.76445	0.0:0.0:0.8609:0.1391	.	412;412	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	N	412	ENSP00000326550:D412N	ENSP00000326550:D412N	D	+	1	0	TACC3	1700161	1.000000	0.71417	0.230000	0.23976	0.011000	0.07611	5.743000	0.68655	1.273000	0.44346	-0.230000	0.12252	GAC		0.632	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			25	95	0	0	0	0	25	95				
JAKMIP1	152789	broad.mit.edu	37	4	6064157	6064157	+	Missense_Mutation	SNP	C	C	T	rs530379301		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:6064157C>T	ENST00000282924.5	-	10	1927	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R481Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R316Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R296Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R481Q|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	481	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.R481Q(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTCCTCTCGGGCTGTGGC	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19476	0.0		0.0	False		,,,				2504	0.0					uc003giu.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1441-1443)CGA>CAA		janus kinase and microtubule interacting protein							39.0	42.0	41.0					4																	6064157		2202	4297	6499	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6064157C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1442G>A	4.37:g.6064157C>T	ENSP00000282924:p.Arg481Gln					JAKMIP1_uc010idb.1_Missense_Mutation_p.R481Q|JAKMIP1_uc010idc.1_Missense_Mutation_p.R296Q|JAKMIP1_uc010idd.1_Missense_Mutation_p.R481Q|JAKMIP1_uc011bwc.1_Missense_Mutation_p.R316Q|JAKMIP1_uc003giv.3_Missense_Mutation_p.R481Q|JAKMIP1_uc010ide.2_Missense_Mutation_p.R481Q	p.R481Q	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			10	1718	-			481			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1442G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154178	0.21371	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.32515	1.86;1.45;1.9;1.9;1.48	4.71	4.71	0.59529	.	0.091170	0.47852	D	0.000214	T	0.21801	0.0525	L	0.46157	1.445	0.09310	N	0.999999	P;P;P;P;P	0.50710	0.876;0.82;0.876;0.876;0.938	B;B;B;B;B	0.37198	0.126;0.231;0.243;0.243;0.231	T	0.30679	-0.9970	10	0.45353	T	0.12	.	7.3643	0.26764	0.0:0.8136:0.0:0.1864	.	316;481;296;481;481	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	Q	481;296;481;373;481;481;316	ENSP00000386711:R481Q;ENSP00000387042:R296Q;ENSP00000282924:R481Q;ENSP00000386925:R481Q;ENSP00000386745:R316Q	ENSP00000282924:R481Q	R	-	2	0	JAKMIP1	6115058	1.000000	0.71417	0.027000	0.17364	0.059000	0.15707	3.461000	0.53035	2.172000	0.68678	0.561000	0.74099	CGA		0.473	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		17	71	0	0	0	0	17	71				
GUCY1A3	2982	broad.mit.edu	37	4	156638419	156638419	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:156638419G>C	ENST00000296518.7	+	8	1890	c.1681G>C	c.(1681-1683)Gat>Cat	p.D561H	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D561H|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D303H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D561H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	561	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAGCTCTCTGATGAAGTTAT	0.438																																						uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1681-1683)GAT>CAT		guanylate cyclase 1, soluble, alpha 3 isoform A							128.0	116.0	120.0					4																	156638419		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156638419G>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1681G>C	4.37:g.156638419G>C	ENSP00000296518:p.Asp561His					GUCY1A3_uc010iqc.2_Missense_Mutation_p.D561H|GUCY1A3_uc003iow.2_Missense_Mutation_p.D561H|GUCY1A3_uc010iqd.2_Missense_Mutation_p.D560H|GUCY1A3_uc003iox.2_Missense_Mutation_p.D561H|GUCY1A3_uc003ioz.2_Missense_Mutation_p.D326H|GUCY1A3_uc003ioy.2_Missense_Mutation_p.D561H|GUCY1A3_uc010iqe.2_Missense_Mutation_p.D326H|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.D561H	p.D561H	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	2217	+	all_hematologic(180;0.24)	Renal(120;0.0854)	561			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1681G>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843125	0.32606	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.64	1.95	0.26073	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.273201	0.31123	N	0.008201	T	0.65502	0.2697	N	0.26130	0.795	0.41301	D	0.987045	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.53005	-0.8499	10	0.41790	T	0.15	.	6.414	0.21705	0.2743:0.121:0.6047:0.0	.	561;561	B3KU69;Q02108	.;GCYA3_HUMAN	H	561;561;561;561;303;561;561	ENSP00000424361:D561H;ENSP00000421493:D561H;ENSP00000426968:D561H;ENSP00000412201:D561H;ENSP00000377418:D303H;ENSP00000296518:D561H;ENSP00000426040:D561H	ENSP00000296518:D561H	D	+	1	0	GUCY1A3	156857869	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	2.368000	0.44222	0.045000	0.15804	-0.793000	0.03317	GAT		0.438	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			18	70	0	0	0	0	18	70				
NPY5R	4889	broad.mit.edu	37	4	164272702	164272702	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:164272702G>T	ENST00000515560.1	+	4	2799	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V	NPY5R_ENST00000506953.1_Missense_Mutation_p.G426V|NPY5R_ENST00000338566.3_Missense_Mutation_p.G426V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	426					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTATATGGGTTTCTTAAT	0.333																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	0				lung(6)|skin(1)	7						c.(1276-1278)GGG>GTG		neuropeptide Y receptor Y5							88.0	90.0	89.0					4																	164272702		2202	4300	6502	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272702G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1277G>T	4.37:g.164272702G>T	ENSP00000423917:p.Gly426Val						p.G426V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1459	+	all_hematologic(180;0.166)	Prostate(90;0.109)	426			Helical; Name=7; (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1277G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120589	0.56613	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.54071	0.59;0.59;0.59	4.95	4.1	0.47936	.	0.000000	0.56097	D	0.000034	T	0.64483	0.2602	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65602	-0.6128	10	0.49607	T	0.09	.	14.9608	0.71156	0.0:0.0:0.856:0.144	.	426	Q15761	NPY5R_HUMAN	V	426	ENSP00000339377:G426V;ENSP00000423917:G426V;ENSP00000423474:G426V	ENSP00000339377:G426V	G	+	2	0	NPY5R	164492152	1.000000	0.71417	0.431000	0.26735	0.947000	0.59692	8.304000	0.89958	1.190000	0.43042	0.460000	0.39030	GGG		0.333	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		24	131	1	0	1.11e-09	1.21e-09	24	131				
IRX1	79192	broad.mit.edu	37	5	3599879	3599879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:3599879G>A	ENST00000302006.3	+	2	869	c.817G>A	c.(817-819)Gac>Aac	p.D273N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	273					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGCAGCCGACGTTCTCAA	0.726																																						uc003jde.2		NA																	0				ovary(1)|pancreas(1)	2						c.(817-819)GAC>AAC		iroquois homeobox protein 1							8.0	10.0	9.0					5																	3599879		2078	4129	6207	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599879G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.817G>A	5.37:g.3599879G>A	ENSP00000305244:p.Asp273Asn						p.D273N	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	869	+			273					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.817G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532092	0.27387	.	.	ENSG00000170549	ENST00000302006	T	0.57595	0.39	4.5	4.5	0.54988	.	0.816627	0.11468	N	0.561001	T	0.41488	0.1161	L	0.44542	1.39	0.42732	D	0.993711	P	0.40681	0.727	B	0.29785	0.107	T	0.35425	-0.9789	10	0.19147	T	0.46	.	15.4046	0.74868	0.0:0.0:1.0:0.0	.	273	P78414	IRX1_HUMAN	N	273	ENSP00000305244:D273N	ENSP00000305244:D273N	D	+	1	0	IRX1	3652879	1.000000	0.71417	0.031000	0.17742	0.012000	0.07955	7.089000	0.76909	2.012000	0.59069	0.655000	0.94253	GAC		0.726	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		8	8	0	0	0	0	8	8				
NPR3	4883	broad.mit.edu	37	5	32783030	32783030	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:32783030G>A	ENST00000265074.8	+	6	1665	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	NPR3_ENST00000415167.2_Missense_Mutation_p.R441H|NPR3_ENST00000434067.2_Missense_Mutation_p.R225H|AC026703.2_ENST00000607869.1_RNA|NPR3_ENST00000415685.2_Missense_Mutation_p.R225H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	441					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.R441H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAAGAAGGTCGTTTTGAAATG	0.398																																						uc003jhv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1321-1323)CGT>CAT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						87.0	80.0	82.0					5																	32783030		1834	4077	5911	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32783030G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1322G>A	5.37:g.32783030G>A	ENSP00000265074:p.Arg441His					NPR3_uc010iuo.2_Missense_Mutation_p.R225H|NPR3_uc011cnz.1_Missense_Mutation_p.R225H|NPR3_uc003jhu.2_Missense_Mutation_p.R441H	p.R441H	NM_000908	NP_000899	P17342	ANPRC_HUMAN			6	1540	+			441			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1322G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975324	0.53720	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.78126	-0.81;-0.81;-0.81;-1.12;-1.15	6.17	4.4	0.53042	.	0.241250	0.49305	N	0.000158	T	0.62974	0.2472	N	0.17674	0.51	0.40275	D	0.978338	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.57585	-0.7786	10	0.42905	T	0.14	-1.9705	10.2164	0.43170	0.201:0.0:0.799:0.0	.	225;225;441;441	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	H	218;225;225;441;441	ENSP00000425325:R218H;ENSP00000388408:R225H;ENSP00000402490:R225H;ENSP00000265074:R441H;ENSP00000398028:R441H	ENSP00000265074:R441H	R	+	2	0	NPR3	32818787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.450000	0.44943	0.937000	0.37394	0.655000	0.94253	CGT		0.398	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		9	25	0	0	0	0	9	25				
SPEF2	79925	broad.mit.edu	37	5	35705876	35705876	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:35705876T>C	ENST00000356031.3	+	18	2785	c.2631T>C	c.(2629-2631)atT>atC	p.I877I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.I872I|SPEF2_ENST00000440995.2_Silent_p.I872I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	877					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAAAGAAATTCTTACGACTG	0.279																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2629-2631)ATT>ATC		KPL2 protein isoform 1							29.0	26.0	27.0					5																	35705876		1783	4042	5825	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35705876T>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2631T>C	5.37:g.35705876T>C						SPEF2_uc003jjq.3_Silent_p.I872I|SPEF2_uc003jjp.1_Silent_p.I363I	p.I877I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2742	+	all_lung(31;7.56e-05)		877			Potential.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.2631T>C	CCDS43309.1																																																																																				0.279	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	73	0	0	0	0	3	73				
ESM1	11082	broad.mit.edu	37	5	54275189	54275189	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:54275189C>T	ENST00000381405.4	-	3	671	c.526G>A	c.(526-528)Gta>Ata	p.V176I	ESM1_ENST00000381403.4_Missense_Mutation_p.V126I|ESM1_ENST00000598310.1_5'UTR	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	176					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCCTCATTACGGGAGACCCG	0.438																																						uc003jpk.2		NA																	0					0						c.(526-528)GTA>ATA		endothelial cell-specific molecule 1 isoform a							166.0	163.0	164.0					5																	54275189		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54275189C>T	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.526G>A	5.37:g.54275189C>T	ENSP00000370812:p.Val176Ile					ESM1_uc010ivt.2_Missense_Mutation_p.V126I	p.V176I	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		3	595	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	176					B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.526G>A	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	0.266	-0.996229	0.02145	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	.	.	.	5.52	2.79	0.32731	.	0.377340	0.23682	N	0.045616	T	0.22437	0.0541	N	0.14661	0.345	0.09310	N	1	B;B	0.24823	0.01;0.112	B;B	0.14023	0.003;0.01	T	0.14559	-1.0468	9	0.21014	T	0.42	-19.7944	10.2127	0.43150	0.0:0.731:0.0:0.269	.	126;176	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	I	176;126	.	ENSP00000370810:V126I	V	-	1	0	ESM1	54310946	0.093000	0.21703	0.025000	0.17156	0.004000	0.04260	1.121000	0.31283	0.709000	0.31976	-1.010000	0.02471	GTA		0.438	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		35	196	0	0	0	0	35	196				
MAN2A1	4124	broad.mit.edu	37	5	109152986	109152986	+	Silent	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:109152986C>G	ENST00000261483.4	+	13	3008	c.1956C>G	c.(1954-1956)gtC>gtG	p.V652V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	652					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.V652V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACCTTGTGGTCTATAATCCTT	0.373																																						uc003kou.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1954-1956)GTC>GTG		mannosidase, alpha, class 2A, member 1							139.0	130.0	133.0					5																	109152986		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109152986C>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1956C>G	5.37:g.109152986C>G							p.V652V	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	13	2919	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	652			Lumenal (Potential).		Q16767	Silent	SNP	ENST00000261483.4	37	c.1956C>G	CCDS34209.1																																																																																				0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			24	179	0	0	0	0	24	179				
PCDHB11	56125	broad.mit.edu	37	5	140579531	140579531	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:140579531C>T	ENST00000354757.3	+	1	184	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCG	0.507																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(184-186)CGG>TGG		protocadherin beta 11 precursor							84.0	96.0	92.0					5																	140579531		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579531C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.184C>T	5.37:g.140579531C>T	ENSP00000346802:p.Arg62Trp					PCDHB11_uc011daj.1_Intron	p.R62W	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	184	+			62			Extracellular (Potential).|Cadherin 1.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.184C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063627	0.55432	.	.	ENSG00000197479	ENST00000354757	T	0.42513	0.97	2.8	-3.06	0.05379	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.74435	0.3716	H	0.98333	4.205	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.67055	-0.5767	9	0.87932	D	0	.	12.0649	0.53581	0.5751:0.4249:0.0:0.0	.	62	Q9Y5F2	PCDBB_HUMAN	W	62	ENSP00000346802:R62W	ENSP00000346802:R62W	R	+	1	2	PCDHB11	140559715	0.009000	0.17119	0.002000	0.10522	0.238000	0.25445	0.348000	0.20031	-0.377000	0.07930	0.467000	0.42956	CGG		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		7	185	0	0	0	0	7	185				
PCDH12	51294	broad.mit.edu	37	5	141336463	141336463	+	Silent	SNP	G	G	A	rs148884293		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:141336463G>A	ENST00000231484.3	-	1	2164	c.954C>T	c.(952-954)taC>taT	p.Y318Y	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTCGTAGGCAGGGT	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23046	0.0		0.0	False		,,,				2504	0.0					uc003llx.2		NA																	0				ovary(3)	3						c.(952-954)TAC>TAT		protocadherin 12 precursor		G		1,4405	2.1+/-5.4	0,1,2202	70.0	63.0	66.0		954	-6.3	0.8	5	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	PCDH12	NM_016580.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		318/1185	141336463	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336463G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.954C>T	5.37:g.141336463G>A							p.Y318Y	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2165	-		all_hematologic(541;0.0999)	318			Extracellular (Potential).|Cadherin 3.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.954C>T	CCDS4269.1																																																																																				0.517	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		16	98	0	0	0	0	16	98				
ANXA6	309	broad.mit.edu	37	5	150514043	150514043	+	Splice_Site	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:150514043C>A	ENST00000354546.5	-	8	718	c.491G>T	c.(490-492)gGa>gTa	p.G164V	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Splice_Site_p.G164V|ANXA6_ENST00000523714.1_Splice_Site_p.G132V	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	164					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCTGGTTCCCTGGGCAGA	0.542																																						uc003ltl.1		NA																	0					0						c.(490-492)GGA>GTA		annexin VI isoform 1							156.0	159.0	158.0					5																	150514043		2019	4174	6193	SO:0001630	splice_region_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150514043C>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.490-1G>T	5.37:g.150514043C>A						ANXA6_uc011dcp.1_Missense_Mutation_p.G132V|ANXA6_uc003ltm.1_Missense_Mutation_p.G164V|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	p.G164V	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	643	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	164					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.491G>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889799	0.91889	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153;ENST00000521749	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.37314	-0.9711	10	0.87932	D	0	.	17.5568	0.87892	0.0:1.0:0.0:0.0	.	164;164	A6NN80;P08133	.;ANXA6_HUMAN	V	164;132;164;38;132	ENSP00000346550:G164V;ENSP00000430517:G132V;ENSP00000348889:G164V;ENSP00000430429:G132V	ENSP00000346550:G164V	G	-	2	0	ANXA6	150494236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.164000	0.71885	2.741000	0.93983	0.650000	0.86243	GGA		0.542	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	Missense_Mutation	5	213	1	0	0.00116845	0.00121925	5	213				
TENM2	57451	broad.mit.edu	37	5	167645855	167645855	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:167645855C>G	ENST00000518659.1	+	23	4998	c.4959C>G	c.(4957-4959)gaC>gaG	p.D1653E	TENM2_ENST00000519204.1_Missense_Mutation_p.D1532E|TENM2_ENST00000520394.1_Missense_Mutation_p.D1414E|TENM2_ENST00000545108.1_Missense_Mutation_p.D1652E|TENM2_ENST00000403607.2_Missense_Mutation_p.D1477E	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1653					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TCATGCCTGACAACCAGATCA	0.522																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(4930-4932)GAC>GAG		odz, odd Oz/ten-m homolog 2							157.0	160.0	159.0					5																	167645855		2090	4226	6316	SO:0001583	missense	57451							g.chr5:167645855C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4959C>G	5.37:g.167645855C>G	ENSP00000429430:p.Asp1653Glu					ODZ2_uc003lzr.3_Missense_Mutation_p.D1414E|ODZ2_uc003lzt.3_Missense_Mutation_p.D1017E|ODZ2_uc010jje.2_Missense_Mutation_p.D908E	p.D1644E	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4932	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4932C>G		.	.	.	.	.	.	.	.	.	.	C	11.07	1.529615	0.27387	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.56275	1.53;0.47;1.53;1.53;1.53	5.85	4.06	0.47325	.	0.042676	0.85682	D	0.000000	T	0.34077	0.0885	N	0.20685	0.6	0.42602	D	0.993283	B;B;B	0.26258	0.145;0.09;0.001	B;B;B	0.29353	0.101;0.047;0.003	T	0.07009	-1.0795	10	0.10902	T	0.67	.	10.0129	0.41997	0.0:0.7637:0.0:0.2363	.	1652;1653;1414	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	E	1653;1652;1532;1414;1477	ENSP00000429430:D1653E;ENSP00000438635:D1652E;ENSP00000428964:D1532E;ENSP00000427874:D1414E;ENSP00000384905:D1477E	ENSP00000384905:D1477E	D	+	3	2	ODZ2	167578433	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	0.701000	0.25616	0.794000	0.33899	0.655000	0.94253	GAC		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		27	243	0	0	0	0	27	243				
FGFR4	2264	broad.mit.edu	37	5	176524631	176524631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:176524631C>T	ENST00000292408.4	+	18	2608	c.2363C>T	c.(2362-2364)cCa>cTa	p.P788L	FGFR4_ENST00000393648.2_Missense_Mutation_p.P720L|FGFR4_ENST00000502906.1_Missense_Mutation_p.P788L|FGFR4_ENST00000292410.3_Missense_Mutation_p.P748L|FGFR4_ENST00000393637.1_Missense_Mutation_p.P748L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	788					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GACCCCCTGCCATTGGGATCC	0.642										TSP Lung(9;0.080)																												uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(2362-2364)CCA>CTA		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						95.0	74.0	81.0					5																	176524631		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176524631C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2363C>T	5.37:g.176524631C>T	ENSP00000292408:p.Pro788Leu	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.P788L|FGFR4_uc011dfu.1_Missense_Mutation_p.P720L|FGFR4_uc003mfo.2_Missense_Mutation_p.P748L	p.P788L	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2530	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	788			Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2363C>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465410	0.43839	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.64	3.47	0.39725	.	0.258669	0.39909	N	0.001230	T	0.68787	0.3039	L	0.42744	1.35	0.51233	D	0.999911	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.08055	0.001;0.002;0.003	T	0.66658	-0.5868	10	0.87932	D	0	.	9.702	0.40192	0.0:0.8738:0.0:0.1262	.	720;748;788	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	L	788;720;788;748;748;1016	ENSP00000292408:P788L;ENSP00000377259:P720L;ENSP00000424960:P788L;ENSP00000292410:P748L;ENSP00000377254:P748L	ENSP00000292408:P788L	P	+	2	0	FGFR4	176457237	1.000000	0.71417	0.885000	0.34714	0.236000	0.25371	4.202000	0.58446	1.034000	0.39945	0.462000	0.41574	CCA		0.642	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			17	82	0	0	0	0	17	82				
RREB1	6239	broad.mit.edu	37	6	7229784	7229784	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:7229784C>T	ENST00000349384.6	+	10	1766	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	RREB1_ENST00000334984.6_Silent_p.I484I|RREB1_ENST00000379938.2_Silent_p.I484I|RREB1_ENST00000379933.3_Silent_p.I484I	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	484	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCCTCAGATCAGTCTTCCGC	0.617																																						uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1450-1452)ATC>ATT		ras responsive element binding protein 1 isoform							106.0	123.0	117.0					6																	7229784		2203	4299	6502	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229784C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1452C>T	6.37:g.7229784C>T						RREB1_uc003mxb.2_Silent_p.I484I|RREB1_uc010jnx.2_Silent_p.I484I	p.I484I	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1842	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	484			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1452C>T	CCDS34336.1																																																																																				0.617	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			11	474	0	0	0	0	11	474				
GCNT2	2651	broad.mit.edu	37	6	10621646	10621646	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:10621646G>A	ENST00000379597.3	+	2	1544	c.988G>A	c.(988-990)Gac>Aac	p.D330N	GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000265012.4_Missense_Mutation_p.D330N|GCNT2_ENST00000410107.1_Missense_Mutation_p.D44N|GCNT2_ENST00000495262.1_Missense_Mutation_p.D330N|GCNT2_ENST00000316170.3_Missense_Mutation_p.D328N			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	330					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAGTGGAGTGACATGGAAGA	0.507																																						uc010joo.2		NA																	0				ovary(2)	2						c.(988-990)GAC>AAC		glucosaminyl (N-acetyl) transferase 2,							95.0	80.0	85.0					6																	10621646		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10621646G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.988G>A	6.37:g.10621646G>A	ENSP00000368917:p.Asp330Asn					GCNT2_uc010jol.2_Missense_Mutation_p.D44N|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Missense_Mutation_p.D329N|GCNT2_uc003mzd.2_Missense_Mutation_p.D328N|GCNT2_uc003mze.2_Missense_Mutation_p.D330N	p.D330N	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	4	1539	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	330			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000379597.3	37	c.988G>A	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274488	0.80580	.	.	ENSG00000111846	ENST00000410107;ENST00000495262;ENST00000379597;ENST00000316170;ENST00000265012	T;T;T;T;T	0.45668	0.89;3.01;3.01;3.01;3.0	5.51	4.61	0.57282	.	0.000000	0.64402	D	0.000015	T	0.46541	0.1398	M	0.68593	2.085	0.42251	D	0.991979	B;D;B;B	0.76494	0.085;0.999;0.085;0.392	B;D;B;B	0.71184	0.115;0.972;0.173;0.173	T	0.38564	-0.9655	10	0.11485	T	0.65	-23.9455	13.7653	0.62990	0.0:0.0:0.8472:0.1528	.	330;44;330;328	Q8N0V5;B7ZBL3;Q8NFS9;Q06430	GNT2A_HUMAN;.;GNT2C_HUMAN;GNT2B_HUMAN	N	44;330;330;328;330	ENSP00000386321:D44N;ENSP00000419411:D330N;ENSP00000368917:D330N;ENSP00000314844:D328N;ENSP00000265012:D330N	ENSP00000265012:D330N	D	+	1	0	GCNT2	10729632	0.999000	0.42202	0.959000	0.39883	0.758000	0.43043	3.429000	0.52800	2.600000	0.87896	0.655000	0.94253	GAC		0.507	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		6	48	0	0	0	0	6	48				
KIF13A	63971	broad.mit.edu	37	6	17764821	17764821	+	Silent	SNP	C	C	T	rs200354621		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:17764821C>T	ENST00000259711.6	-	39	5043	c.4938G>A	c.(4936-4938)ccG>ccA	p.P1646P	KIF13A_ENST00000378814.5_Silent_p.P1598P|KIF13A_ENST00000378826.2_Silent_p.P1611P|KIF13A_ENST00000378843.2_Silent_p.P1598P|KIF13A_ENST00000378816.5_Silent_p.P1611P	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1646					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGTTTGAGGACGGCCTGAAAT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20674	0.0		0.001	False		,,,				2504	0.0					uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(4936-4938)CCG>CCA		kinesin family member 13A isoform a		C	,,,	0,4060		0,0,2030	83.0	81.0	82.0		4833,4794,4794,4938	-11.1	0.0	6		82	2,8372		0,2,4185	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KIF13A	NM_001105566.2,NM_001105567.2,NM_001105568.2,NM_022113.5	,,,	0,2,6215	TT,TC,CC		0.0239,0.0,0.0161	,,,	1611/1771,1598/1758,1598/1750,1646/1806	17764821	2,12432	2030	4187	6217	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764821C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4938G>A	6.37:g.17764821C>T						KIF13A_uc003ncf.2_Silent_p.P1598P|KIF13A_uc003nch.3_Silent_p.P1611P|KIF13A_uc003nci.3_Silent_p.P1598P|KIF13A_uc003nce.1_Silent_p.P197P	p.P1646P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		39	5043	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1646					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.4938G>A	CCDS47381.1																																																																																				0.507	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			10	72	0	0	0	0	10	72				
KIF13A	63971	broad.mit.edu	37	6	17797042	17797042	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:17797042C>A	ENST00000259711.6	-	23	2905	c.2800G>T	c.(2800-2802)Gtg>Ttg	p.V934L	KIF13A_ENST00000378814.5_Missense_Mutation_p.V934L|KIF13A_ENST00000378826.2_Missense_Mutation_p.V934L|KIF13A_ENST00000378843.2_Missense_Mutation_p.V934L|KIF13A_ENST00000378816.5_Missense_Mutation_p.V934L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	934					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTACATTCACCACATAGTCC	0.423																																						uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(2800-2802)GTG>TTG		kinesin family member 13A isoform a							53.0	50.0	51.0					6																	17797042		1862	4103	5965	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17797042C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2800G>T	6.37:g.17797042C>A	ENSP00000259711:p.Val934Leu					KIF13A_uc003ncf.2_Missense_Mutation_p.V934L|KIF13A_uc003nch.3_Missense_Mutation_p.V934L|KIF13A_uc003nci.3_Missense_Mutation_p.V934L	p.V934L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		23	2905	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	934					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.2800G>T	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.722458|4.722458	0.89298|0.89298	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816|ENST00000358380	T;T;T;T;T|.	0.78924|.	-1.22;-1.22;-1.22;-1.22;-1.22|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73001|0.73001	0.3531|0.3531	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	B;D;P;D|.	0.56746|.	0.16;0.977;0.533;0.977|.	B;P;B;P|.	0.55545|.	0.091;0.778;0.224;0.761|.	T|T	0.73600|0.73600	-0.3931|-0.3931	10|5	0.87932|.	D|.	0|.	.|.	18.7771|18.7771	0.91915|0.91915	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	934;934;934;934|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	L|C	934|327	ENSP00000368091:V934L;ENSP00000259711:V934L;ENSP00000368103:V934L;ENSP00000368120:V934L;ENSP00000368093:V934L|.	ENSP00000259711:V934L|.	V|W	-|-	1|3	0|0	KIF13A|KIF13A	17905021|17905021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	5.803000|5.803000	0.69129|0.69129	2.494000|2.494000	0.84150|0.84150	0.563000|0.563000	0.77884|0.77884	GTG|TGG		0.423	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			12	66	1	0	0.00010058	0.000106301	12	66				
HIST1H3I	8354	broad.mit.edu	37	6	27839826	27839826	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:27839826C>A	ENST00000328488.2	-	1	273	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	90					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGCGCCATCACCGCCGAGCTC	0.567																																						uc003njy.2		NA																	0				ovary(1)	1						c.(268-270)GTG>TTG		histone cluster 1, H3i							85.0	91.0	89.0					6																	27839826		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839826C>A	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.268G>T	6.37:g.27839826C>A	ENSP00000329554:p.Val90Leu						p.V90L	NM_003533	NP_003524	P68431	H31_HUMAN			1	274	-			90					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.268G>T	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588362	0.46110	.	.	ENSG00000182572	ENST00000328488	T	0.66995	-0.24	4.12	4.12	0.48240	.	.	.	.	.	T	0.74831	0.3768	.	.	.	0.42671	D	0.993515	.	.	.	.	.	.	T	0.78708	-0.2099	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	L	90	ENSP00000329554:V90L	ENSP00000329554:V90L	V	-	1	0	HIST1H3I	27947805	0.997000	0.39634	0.444000	0.26895	0.538000	0.34931	3.598000	0.54038	2.580000	0.87095	0.650000	0.86243	GTG		0.567	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		9	189	1	0	1.13e-05	1.2e-05	9	189				
ZNF165	7718	broad.mit.edu	37	6	28056699	28056699	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:28056699G>C	ENST00000377325.1	+	4	1465	c.909G>C	c.(907-909)tgG>tgC	p.W303C	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	303					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.W303C(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						GCTTCAAATGGAACTCAGATT	0.363																																						uc003nkg.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(907-909)TGG>TGC		zinc finger protein 165							37.0	38.0	37.0					6																	28056699		2202	4300	6502	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056699G>C	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.909G>C	6.37:g.28056699G>C	ENSP00000366542:p.Trp303Cys					ZNF165_uc003nkh.2_Missense_Mutation_p.W303C|ZNF165_uc003nki.3_Missense_Mutation_p.W303C|ZSCAN12P1_uc003nkj.3_5'Flank	p.W303C	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	1993	+			303			C2H2-type 1; degenerate.			Missense_Mutation	SNP	ENST00000377325.1	37	c.909G>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510653	0.27036	.	.	ENSG00000197279	ENST00000377325	T	0.76186	-1.0	3.17	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62221	0.2410	L	0.41906	1.305	0.09310	N	1	D	0.63880	0.993	P	0.58620	0.842	T	0.50651	-0.8803	9	0.52906	T	0.07	.	6.6893	0.23161	0.0:0.1599:0.5418:0.2983	.	303	P49910	ZN165_HUMAN	C	303	ENSP00000366542:W303C	ENSP00000366542:W303C	W	+	3	0	ZNF165	28164678	0.003000	0.15002	0.992000	0.48379	0.962000	0.63368	0.300000	0.19156	0.660000	0.30964	0.573000	0.79308	TGG		0.363	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		22	44	0	0	0	0	22	44				
CUL7	9820	broad.mit.edu	37	6	43006428	43006428	+	Silent	SNP	C	C	T	rs572367422		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:43006428C>T	ENST00000265348.3	-	24	4528	c.4443G>A	c.(4441-4443)gcG>gcA	p.A1481A	CUL7_ENST00000535468.1_Silent_p.A1565A|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1481					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCACAGAGACCGCCTTCAGAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19370	0.0		0.0	False		,,,				2504	0.001					uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(4441-4443)GCG>GCA		cullin 7							69.0	74.0	72.0					6																	43006428		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006428C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4443G>A	6.37:g.43006428C>T						CUL7_uc010jyg.2_Silent_p.A760A|CUL7_uc011dvb.1_Silent_p.A1565A|CUL7_uc010jyh.2_Silent_p.A474A|KLC4_uc003otr.1_5'Flank	p.A1481A	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		24	4746	-			1481					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.4443G>A	CCDS4881.1																																																																																				0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		19	149	0	0	0	0	19	149				
GTPBP2	54676	broad.mit.edu	37	6	43590532	43590532	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:43590532G>A	ENST00000307126.5	-	10	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.C347C	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCCCCTCACGGCAAATCCCAC	0.597																																					GBM(116;405 1620 28302 32150 44768)	uc003ovs.2		NA																	0				liver(1)|skin(1)	2						c.(1303-1305)TGC>TGT		GTP binding protein 2							34.0	29.0	31.0					6																	43590532		2203	4300	6503	SO:0001819	synonymous_variant	54676						GTP binding|GTPase activity	g.chr6:43590532G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1305C>T	6.37:g.43590532G>A						GTPBP2_uc010jyv.2_Silent_p.C347C|GTPBP2_uc003ovt.1_Silent_p.C435C	p.C435C	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		10	1342	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		435						Silent	SNP	ENST00000307126.5	37	c.1305C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129423	0.21041	.	.	ENSG00000172432	ENST00000419497;ENST00000432918	.	.	.	5.37	4.49	0.54785	.	.	.	.	.	T	0.51278	0.1665	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49978	-0.8881	4	.	.	.	-14.7036	10.8671	0.46862	0.1452:0.0:0.8548:0.0	.	.	.	.	S	4	.	.	P	-	1	0	GTPBP2	43698510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.221000	0.51215	2.525000	0.85131	0.557000	0.71058	CCG		0.597	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			3	46	0	0	0	0	3	46				
TDRD6	221400	broad.mit.edu	37	6	46657374	46657374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:46657374G>A	ENST00000316081.6	+	1	1509	c.1509G>A	c.(1507-1509)tgG>tgA	p.W503*	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.W503*|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	503					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)				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)			CTGAGTTTTGGATTAGGTTGA	0.408																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1507-1509)TGG>TGA		tudor domain containing 6							109.0	106.0	107.0					6																	46657374		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657374G>A	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.1509G>A	6.37:g.46657374G>A	ENSP00000346065:p.Trp503*					TDRD6_uc010jze.2_Nonsense_Mutation_p.W497*	p.W503*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1509	+			503					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.1509G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	37	6.089685	0.97271	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.88	5.88	0.94601	.	0.056380	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-8.0791	15.4607	0.75353	0.0:0.0:0.8607:0.1393	.	.	.	.	X	503	.	ENSP00000346065:W503X	W	+	3	0	TDRD6	46765333	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.090000	0.71397	2.778000	0.95560	0.655000	0.94253	TGG		0.408	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		24	181	0	0	0	0	24	181				
MAP3K7	6885	broad.mit.edu	37	6	91257806	91257806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:91257806C>T	ENST00000369329.3	-	10	1201	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	MAP3K7_ENST00000369327.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369320.1_Missense_Mutation_p.R28H|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R347H	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	347					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATTCTAAGCGCTTAATAGT	0.343																																						uc003pnz.1		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(1039-1041)CGC>CAC		mitogen-activated protein kinase kinase kinase 7							163.0	158.0	160.0					6																	91257806		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91257806C>T	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1040G>A	6.37:g.91257806C>T	ENSP00000358335:p.Arg347His					MAP3K7_uc003poa.1_Missense_Mutation_p.R347H|MAP3K7_uc003pob.1_Missense_Mutation_p.R347H|MAP3K7_uc003poc.1_Missense_Mutation_p.R347H	p.R347H	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	10	1202	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	347					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1040G>A	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430105	0.43122	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	T;T;T;T	0.76578	-1.03;-1.0;-1.03;-1.03	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	N	0.08118	0	0.51767	D	0.999931	D;D;B;P	0.64830	0.994;0.994;0.443;0.703	P;P;B;B	0.48488	0.579;0.579;0.065;0.048	T	0.67852	-0.5563	10	0.42905	T	0.14	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	347;347;347;347	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	H	347;347;347;347;28;274	ENSP00000358338:R347H;ENSP00000358335:R347H;ENSP00000358331:R347H;ENSP00000358333:R347H	ENSP00000358326:R28H	R	-	2	0	MAP3K7	91314527	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.641000	0.54360	2.890000	0.99128	0.585000	0.79938	CGC		0.343	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		5	84	0	0	0	0	5	84				
MANEA	79694	broad.mit.edu	37	6	96054094	96054094	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:96054094C>G	ENST00000358812.4	+	5	1336	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	401	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTATCACCTCTTTTAATGAG	0.428																																						uc003poo.1		NA																	0				ovary(2)|breast(1)	3						c.(1201-1203)TCT>TGT		mannosidase, endo-alpha							61.0	64.0	63.0					6																	96054094		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054094C>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1202C>G	6.37:g.96054094C>G	ENSP00000351669:p.Ser401Cys						p.S401C	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1342	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	401			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1202C>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678764	0.88542	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86073	0.1539	9	0.62326	D	0.03	-29.9508	19.8676	0.96824	0.0:1.0:0.0:0.0	.	401	Q5SRI9	MANEA_HUMAN	C	401	.	ENSP00000351669:S401C	S	+	2	0	MANEA	96160815	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	TCT		0.428	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		10	104	0	0	0	0	10	104				
AIM1	202	broad.mit.edu	37	6	106973015	106973015	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:106973015G>C	ENST00000369066.3	+	3	3516	c.3029G>C	c.(3028-3030)aGa>aCa	p.R1010T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGACACTTAGAGGAAGTGTC	0.373																																						uc003prh.2		NA																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3028-3030)AGA>ACA		absent in melanoma 1							161.0	155.0	157.0					6																	106973015		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106973015G>C	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3029G>C	6.37:g.106973015G>C	ENSP00000358062:p.Arg1010Thr						p.R1010T	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	3	3516	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1010					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3029G>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188030	0.38609	.	.	ENSG00000112297	ENST00000369066	T	0.71934	-0.61	5.61	3.58	0.41010	.	0.846754	0.10753	N	0.638121	T	0.41511	0.1162	M	0.67953	2.075	0.80722	D	1	B	0.33739	0.422	B	0.28011	0.085	T	0.47959	-0.9076	10	0.08179	T	0.78	.	5.214	0.15332	0.2287:0.3408:0.4305:0.0	.	1010	Q9Y4K1	AIM1_HUMAN	T	1010	ENSP00000358062:R1010T	ENSP00000358062:R1010T	R	+	2	0	AIM1	107079708	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	1.057000	0.30492	1.370000	0.46153	0.585000	0.79938	AGA		0.373	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			7	169	0	0	0	0	7	169				
SOBP	55084	broad.mit.edu	37	6	107955074	107955074	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:107955074C>T	ENST00000317357.5	+	6	1685	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACTGCTCTGTCACTAAAATCC	0.642																																						uc003prx.2		NA																	0				ovary(1)	1						c.(1024-1026)GTC>GTT		sine oculis binding protein homolog							96.0	106.0	103.0					6																	107955074		2052	4187	6239	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107955074C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1026C>T	6.37:g.107955074C>T							p.V342V	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1530	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	342						Silent	SNP	ENST00000317357.5	37	c.1026C>T	CCDS43488.1																																																																																				0.642	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		22	123	0	0	0	0	22	123				
UTRN	7402	broad.mit.edu	37	6	145118996	145118996	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:145118996A>C	ENST00000367545.3	+	63	9115	c.9115A>C	c.(9115-9117)Ata>Cta	p.I3039L	UTRN_ENST00000367526.4_Missense_Mutation_p.I594L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3039	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGAGTTTATAGATTGGAT	0.378																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(9115-9117)ATA>CTA		utrophin							97.0	100.0	99.0					6																	145118996		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145118996A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9115A>C	6.37:g.145118996A>C	ENSP00000356515:p.Ile3039Leu						p.I3039L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	63	9207	+		Ovarian(120;0.218)	3039			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9115A>C	CCDS34547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.630|4.630	0.117171|0.117171	0.08881|0.08881	.|.	.|.	ENSG00000152818|ENSG00000152818	ENST00000367545;ENST00000367526|ENST00000367524	T;T|.	0.62788|.	-0.0;-0.0|.	5.67|5.67	3.17|3.17	0.36434|0.36434	EF-hand domain, type 2 (1);EF-hand-like domain (1);|.	0.000000|.	0.64402|.	D|.	0.000012|.	T|T	0.01695|0.01695	0.0054|0.0054	N|N	0.00170|0.00170	-1.935|-1.935	0.29620|0.29620	N|N	0.84625|0.84625	B|.	0.20052|.	0.041|.	B|.	0.31869|.	0.137|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|5	0.02654|.	T|.	1|.	.|.	8.7722|8.7722	0.34740|0.34740	0.8056:0.1275:0.0669:0.0|0.8056:0.1275:0.0669:0.0	.|.	3039|.	P46939|.	UTRO_HUMAN|.	L|F	3039;594|82	ENSP00000356515:I3039L;ENSP00000356496:I594L|.	ENSP00000356496:I594L|.	I|L	+|+	1|3	0|2	UTRN|UTRN	145160689|145160689	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.325000|2.325000	0.43840|0.43840	0.975000|0.975000	0.38392|0.38392	0.459000|0.459000	0.35465|0.35465	ATA|TTA		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	89	0	0	0	0	14	89				
RMND1	55005	broad.mit.edu	37	6	151766520	151766520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:151766520G>A	ENST00000367303.4	-	2	549	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	143					translation (GO:0006412)	mitochondrion (GO:0005739)		p.Q143*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCTTCACCTGTGGGAAGTCT	0.438																																						uc003qoi.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)		0						c.(427-429)CAG>TAG		required for meiotic nuclear division 1 homolog							88.0	92.0	91.0					6																	151766520		2203	4300	6503	SO:0001587	stop_gained	55005							g.chr6:151766520G>A	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.427C>T	6.37:g.151766520G>A	ENSP00000356272:p.Gln143*					RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Nonsense_Mutation_p.Q143*|RMND1_uc011eer.1_Nonsense_Mutation_p.Q143*	p.Q143*	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	607	-		Ovarian(120;0.125)	143					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Nonsense_Mutation	SNP	ENST00000367303.4	37	c.427C>T	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031512	0.93575	.	.	ENSG00000155906	ENST00000367303	.	.	.	5.16	4.27	0.50696	.	0.250293	0.31936	N	0.006830	.	.	.	.	.	.	0.43688	D	0.996136	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-3.164	6.6909	0.23171	0.1542:0.1527:0.6931:0.0	.	.	.	.	X	143	.	ENSP00000356272:Q143X	Q	-	1	0	RMND1	151808213	0.830000	0.29337	0.520000	0.27837	0.575000	0.36095	2.672000	0.46850	1.259000	0.44117	0.563000	0.77884	CAG		0.438	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		54	114	0	0	0	0	54	114				
SCAF8	22828	broad.mit.edu	37	6	155131214	155131214	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:155131214C>G	ENST00000367178.3	+	12	1868	c.1292C>G	c.(1291-1293)tCa>tGa	p.S431*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S497*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S431*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	431	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.S431*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGAAAGCGATCACGCTCCCGC	0.413																																						uc003qqa.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)		0						c.(1291-1293)TCA>TGA		RNA-binding motif protein 16							164.0	163.0	163.0					6																	155131214		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155131214C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1292C>G	6.37:g.155131214C>G	ENSP00000356146:p.Ser431*					RBM16_uc011efj.1_Nonsense_Mutation_p.S497*|RBM16_uc011efk.1_Nonsense_Mutation_p.S476*|RBM16_uc003qpz.2_Nonsense_Mutation_p.S431*|RBM16_uc010kji.2_Nonsense_Mutation_p.S452*	p.S431*	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	13	1524	+		Ovarian(120;0.196)	431			Arg-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.1292C>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	39	7.499748	0.98322	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	.	.	.	X	431;431;497	.	ENSP00000356146:S431X	S	+	2	0	SCAF8	155172906	1.000000	0.71417	0.933000	0.37362	0.990000	0.78478	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	TCA		0.413	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		34	210	0	0	0	0	34	210				
PDE10A	10846	broad.mit.edu	37	6	165746557	165746557	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:165746557G>A	ENST00000366882.1	-	23	2451	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	PDE10A_ENST00000539869.2_Missense_Mutation_p.S776L|PDE10A_ENST00000354448.4_Missense_Mutation_p.S766L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	766					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGATGGGGATGAAATCCAGGT	0.502																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(2296-2298)TCA>TTA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						151.0	135.0	141.0					6																	165746557		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165746557G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2297C>T	6.37:g.165746557G>A	ENSP00000355847:p.Ser766Leu					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.S696L|PDE10A_uc003quo.2_Missense_Mutation_p.S776L	p.S766L	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	23	2538	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	766					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2297C>T		.	.	.	.	.	.	.	.	.	.	G	13.04	2.117187	0.37339	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.71103	-0.54;-0.54	4.98	2.89	0.33648	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.646217	0.09989	U	0.729931	T	0.30386	0.0763	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.08055	0.0;0.003	T	0.20874	-1.0262	10	0.23302	T	0.38	.	9.5324	0.39202	0.0902:0.1378:0.772:0.0	.	776;766	Q9ULW9;Q9Y233	.;PDE10_HUMAN	L	766;794;776;766;765	ENSP00000355847:S766L;ENSP00000346435:S766L	ENSP00000341187:S776L	S	-	2	0	PDE10A	165666547	0.440000	0.25618	0.060000	0.19600	0.057000	0.15508	2.622000	0.46427	1.072000	0.40860	0.655000	0.94253	TCA		0.502	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			30	185	0	0	0	0	30	185				
MPC1	51660	broad.mit.edu	37	6	166796324	166796324	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:166796324C>T	ENST00000360961.6	-	1	162	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	MPC1_ENST00000341756.6_Missense_Mutation_p.R14Q|RP1-168L15.5_ENST00000568025.1_RNA|MPC1_ENST00000487218.1_5'UTR	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	14				R -> Q (in Ref. 2; AAD34124). {ECO:0000305}.	cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										ATCCTTGCTTCGGACATAGTC	0.687																																						uc011egn.1		NA																	0				central_nervous_system(1)	1						c.(40-42)CGA>CAA		brain protein 44-like							28.0	27.0	27.0					6																	166796324		2202	4297	6499	SO:0001583	missense	51660					mitochondrion		g.chr6:166796324C>T	AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.41G>A	6.37:g.166796324C>T	ENSP00000354223:p.Arg14Gln					BRP44L_uc003qva.2_RNA|BRP44L_uc010kkj.1_Missense_Mutation_p.R14Q	p.R14Q	NM_016098	NP_057182	Q9Y5U8	BR44L_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122)	1	163	-		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)	14	R -> Q (in Ref. 2; AAD34124).				B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Missense_Mutation	SNP	ENST00000360961.6	37	c.41G>A	CCDS5293.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609763	0.66558	.	.	ENSG00000060762	ENST00000360961;ENST00000341756	T;T	0.73152	-0.72;-0.72	4.82	3.95	0.45737	.	0.315126	0.31519	N	0.007510	T	0.53642	0.1809	M	0.74467	2.265	0.39080	D	0.960886	B	0.09022	0.002	B	0.13407	0.009	T	0.54918	-0.8221	10	0.32370	T	0.25	.	10.8178	0.46587	0.0:0.9051:0.0:0.0949	.	14	Q9Y5U8	BR44L_HUMAN	Q	14	ENSP00000354223:R14Q;ENSP00000340784:R14Q	ENSP00000340784:R14Q	R	-	2	0	BRP44L	166716314	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	2.135000	0.42112	1.023000	0.39654	-0.237000	0.12165	CGA		0.687	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098		3	26	0	0	0	0	3	26				
ZNF12	7559	broad.mit.edu	37	7	6732045	6732045	+	Silent	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:6732045G>C	ENST00000405858.1	-	5	1069	c.528C>G	c.(526-528)ctC>ctG	p.L176L	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Silent_p.L102L|ZNF12_ENST00000342651.5_Silent_p.L138L	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	176					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTTAATATGGAGGAGTGATT	0.343																																						uc003sqt.1		NA																	0					0						c.(526-528)CTC>CTG		zinc finger protein 12 isoform a							66.0	61.0	63.0					7																	6732045		1873	4116	5989	SO:0001819	synonymous_variant	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6732045G>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.528C>G	7.37:g.6732045G>C						ZNF12_uc011jxa.1_Silent_p.L14L|ZNF12_uc003sqs.1_Silent_p.L138L	p.L176L	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1082	-		Ovarian(82;0.0776)	176					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	c.528C>G	CCDS47538.1																																																																																				0.343	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		12	90	0	0	0	0	12	90				
MACC1	346389	broad.mit.edu	37	7	20198241	20198241	+	Silent	SNP	G	G	A	rs552475136		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:20198241G>A	ENST00000400331.5	-	5	2051	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	MACC1_ENST00000589011.1_Silent_p.L581L|MACC1_ENST00000332878.4_Silent_p.L581L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	581	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TACCTTCCCCGAGGAGAGCTA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20138	0.0		0.0	False		,,,				2504	0.0					uc003sus.3		NA																	0				ovary(2)|skin(1)	3						c.(1741-1743)CTC>CTT		putative binding protein 7a5							132.0	133.0	133.0					7																	20198241		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198241G>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1743C>T	7.37:g.20198241G>A						MACC1_uc010kug.2_Silent_p.L581L	p.L581L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	2052	-			581			SH3.		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.1743C>T	CCDS5369.1																																																																																				0.418	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		13	301	0	0	0	0	13	301				
SP4	6671	broad.mit.edu	37	7	21550789	21550789	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:21550789G>A	ENST00000222584.3	+	6	2475	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	753					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGTTACAGAGGTGCTTGG	0.448																																						uc003sva.2		NA																	0				ovary(3)|skin(2)	5						c.(2257-2259)GAG>AAG		Sp4 transcription factor							109.0	109.0	109.0					7																	21550789		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550789G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2257G>A	7.37:g.21550789G>A	ENSP00000222584:p.Glu753Lys					SP4_uc003svb.2_Missense_Mutation_p.E440K	p.E753K	NM_003112	NP_003103	Q02446	SP4_HUMAN			6	2438	+			753					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2257G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648276	0.47258	.	.	ENSG00000105866	ENST00000222584	T	0.08370	3.1	5.26	5.26	0.73747	.	0.173716	0.50627	D	0.000117	T	0.05090	0.0136	N	0.08118	0	0.52501	D	0.99995	B	0.15473	0.013	B	0.11329	0.006	T	0.29119	-1.0022	10	0.06757	T	0.87	.	18.8623	0.92278	0.0:0.0:1.0:0.0	.	753	Q02446	SP4_HUMAN	K	753	ENSP00000222584:E753K	ENSP00000222584:E753K	E	+	1	0	SP4	21517314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.469000	0.83416	0.591000	0.81541	GAG		0.448	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		22	98	0	0	0	0	22	98				
PPP1R9A	55607	broad.mit.edu	37	7	94881081	94881081	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:94881081G>C	ENST00000433881.1	+	10	2870	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D780H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D802H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D780H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D780H|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.D780H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	780	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAGAGCTTGATTTCATCAA	0.343										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2338-2340)GAT>CAT		protein phosphatase 1, regulatory (inhibitor)							44.0	47.0	46.0					7																	94881081		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94881081G>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2338G>C	7.37:g.94881081G>C	ENSP00000398870:p.Asp780His	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.D802H|PPP1R9A_uc011kif.1_Missense_Mutation_p.D780H|PPP1R9A_uc003unq.2_Missense_Mutation_p.D780H|PPP1R9A_uc011kig.1_Missense_Mutation_p.D780H	p.D780H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		10	2620	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		780			Interacts with TGN38 (By similarity).|Potential.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2338G>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038754	0.55003	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.21543	2.08;2.09;2.01;2.09;2.0;2.01	5.05	5.05	0.67936	.	0.059095	0.64402	D	0.000002	T	0.39655	0.1086	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D	0.71674	0.984;0.973;0.987;0.998;0.991	P;P;D;P;P	0.65987	0.897;0.894;0.94;0.879;0.83	T	0.20438	-1.0275	10	0.87932	D	0	.	18.8064	0.92038	0.0:0.0:1.0:0.0	.	780;780;802;780;780	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	802;780;780;780;780;780	ENSP00000405514:D802H;ENSP00000344524:D780H;ENSP00000411342:D780H;ENSP00000398870:D780H;ENSP00000289495:D780H;ENSP00000402893:D780H	ENSP00000289495:D780H	D	+	1	0	PPP1R9A	94719017	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	6.605000	0.74155	2.508000	0.84585	0.555000	0.69702	GAT		0.343	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		7	58	0	0	0	0	7	58				
BCAP29	55973	broad.mit.edu	37	7	107236385	107236385	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:107236385C>G	ENST00000005259.4	+	5	757	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E	BCAP29_ENST00000379121.2_Missense_Mutation_p.Q46E|BCAP29_ENST00000445771.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000379117.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000465919.1_Missense_Mutation_p.Q46E|BCAP29_ENST00000379119.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000494086.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	140					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ACTTAAAACTCAAGCAGAAAA	0.299																																						uc003vej.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(418-420)CAA>GAA		B-cell receptor-associated protein BAP29 isoform							88.0	88.0	88.0					7																	107236385		2202	4300	6502	SO:0001583	missense	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107236385C>G		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.418C>G	7.37:g.107236385C>G	ENSP00000005259:p.Gln140Glu					BCAP29_uc011kly.1_Missense_Mutation_p.Q46E|BCAP29_uc011klz.1_Missense_Mutation_p.Q140E|BCAP29_uc011kma.1_Missense_Mutation_p.Q140E	p.Q140E	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN			5	757	+			140			Cytoplasmic (Potential).		G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	c.418C>G	CCDS34731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.046021|3.046021	0.55110|0.55110	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000005259;ENST00000465919;ENST00000445771;ENST00000479917;ENST00000457837;ENST00000379117;ENST00000379119;ENST00000491150;ENST00000379121|ENST00000436699	T|.	0.41400|.	1.0|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.051194|.	0.85682|.	D|.	0.000000|.	T|.	0.81108|.	0.4754|.	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	P;P;P|.	0.51653|.	0.947;0.827;0.906|.	P;B;P|.	0.45946|.	0.481;0.347;0.498|.	D|.	0.84281|.	0.0494|.	10|.	0.54805|.	T|.	0.06|.	-27.5552|-27.5552	14.6808|14.6808	0.69015|0.69015	0.0:0.8539:0.1461:0.0|0.0:0.8539:0.1461:0.0	.|.	140;140;140|.	G5E9L4;C9JTE9;Q9UHQ4|.	.;.;BAP29_HUMAN|.	E|X	140;46;140;140;140;140;140;97;46|53	ENSP00000368416:Q46E|.	ENSP00000005259:Q140E|.	Q|S	+|+	1|2	0|0	BCAP29|BCAP29	107023621|107023621	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.892000|0.892000	0.51952|0.51952	4.694000|4.694000	0.61760|0.61760	2.721000|2.721000	0.93114|0.93114	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.299	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		16	108	0	0	0	0	16	108				
GPR85	54329	broad.mit.edu	37	7	112724579	112724579	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:112724579A>G	ENST00000297146.3	-	3	801	c.198T>C	c.(196-198)gaT>gaC	p.D66D	GPR85_ENST00000501255.2_Silent_p.D66D|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Silent_p.D66D|GPR85_ENST00000424100.1_Silent_p.D66D	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	66					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D66D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTGAGGATATCTGAACAGC	0.433																																						uc010ljv.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(196-198)GAT>GAC		G protein-coupled receptor 85							131.0	125.0	127.0					7																	112724579		2203	4300	6503	SO:0001819	synonymous_variant	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724579A>G	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.198T>C	7.37:g.112724579A>G						GPR85_uc003vgp.1_Silent_p.D66D|GPR85_uc003vgq.2_Silent_p.D66D|GPR85_uc010ljw.1_Silent_p.D66D	p.D66D	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	715	-			66			Helical; Name=2; (Potential).		Q9JHI6|Q9NPD1	Silent	SNP	ENST00000297146.3	37	c.198T>C	CCDS5758.1																																																																																				0.433	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			17	126	0	0	0	0	17	126				
ASZ1	136991	broad.mit.edu	37	7	117067495	117067495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:117067495C>T	ENST00000284629.2	-	1	82	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.R7Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGCAGGCCTCGCAGCGCGCT	0.697											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003vjb.2		NA																	1	Substitution - Missense(1)		prostate(1)	central_nervous_system(2)|ovary(1)	3						c.(19-21)CGA>CAA		ankyrin repeat, SAM and basic leucine zipper							48.0	46.0	47.0					7																	117067495		2202	4294	6496	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067495C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.20G>A	7.37:g.117067495C>T	ENSP00000284629:p.Arg7Gln		OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Missense_Mutation_p.R7Q|ASZ1_uc011knp.1_5'UTR	p.R7Q	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	83	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		7						Missense_Mutation	SNP	ENST00000284629.2	37	c.20G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513236	0.85389	.	.	ENSG00000154438	ENST00000284629	T	0.68331	-0.32	5.14	5.14	0.70334	.	0.494840	0.21431	N	0.074644	T	0.72431	0.3459	M	0.69823	2.125	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.50352	0.638;0.638	T	0.66221	-0.5978	10	0.26408	T	0.33	.	16.4814	0.84158	0.0:1.0:0.0:0.0	.	7;7	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	Q	7	ENSP00000284629:R7Q	ENSP00000284629:R7Q	R	-	2	0	ASZ1	116854731	0.031000	0.19500	0.009000	0.14445	0.002000	0.02628	3.829000	0.55760	2.829000	0.97493	0.655000	0.94253	CGA		0.697	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		3	10	0	0	0	0	3	10				
GCC1	79571	broad.mit.edu	37	7	127222112	127222112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:127222112G>A	ENST00000321407.2	-	2	2708	c.2284C>T	c.(2284-2286)Cga>Tga	p.R762*	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	762	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R762*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTGGGAGTCGCATTATCACT	0.517																																						uc003vma.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(2284-2286)CGA>TGA		Golgi coiled-coil protein 1							194.0	183.0	186.0					7																	127222112		2203	4300	6503	SO:0001587	stop_gained	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222112G>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2284C>T	7.37:g.127222112G>A	ENSP00000318821:p.Arg762*						p.R762*	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	2702	-			762			Potential.|GRIP.		Q9H6N7	Nonsense_Mutation	SNP	ENST00000321407.2	37	c.2284C>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	37	6.538316	0.97646	.	.	ENSG00000179562	ENST00000321407	.	.	.	6.08	1.7	0.24286	.	0.424017	0.25866	N	0.027787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-17.1979	14.3853	0.66940	0.0:0.0:0.497:0.503	.	.	.	.	X	762	.	ENSP00000318821:R762X	R	-	1	2	GCC1	127009348	0.923000	0.31300	0.987000	0.45799	0.063000	0.16089	1.744000	0.38268	0.399000	0.25367	0.655000	0.94253	CGA		0.517	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		32	131	0	0	0	0	32	131				
CLCN1	1180	broad.mit.edu	37	7	143020477	143020477	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:143020477G>C	ENST00000343257.2	+	6	859	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGGGTATATGAGGTAAGGTT	0.607																																						uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(772-774)GAG>CAG		chloride channel 1, skeletal muscle							107.0	96.0	100.0					7																	143020477		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143020477G>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.772G>C	7.37:g.143020477G>C	ENSP00000339867:p.Glu258Gln					CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron	p.E258Q	NM_000083	NP_000074	P35523	CLCN1_HUMAN			6	859	+	Melanoma(164;0.205)		258					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.772G>C	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	18.10	3.549302	0.65311	.	.	ENSG00000188037	ENST00000343257	D	0.92858	-3.12	4.27	4.27	0.50696	Chloride channel, core (2);	0.174805	0.49916	D	0.000121	D	0.91106	0.7200	L	0.34521	1.04	0.41571	D	0.98868	P	0.51449	0.945	P	0.51582	0.674	D	0.92232	0.5793	10	0.54805	T	0.06	.	16.9618	0.86274	0.0:0.0:1.0:0.0	.	258	P35523	CLCN1_HUMAN	Q	258	ENSP00000339867:E258Q	ENSP00000339867:E258Q	E	+	1	0	CLCN1	142730599	1.000000	0.71417	0.970000	0.41538	0.747000	0.42532	4.488000	0.60300	2.219000	0.72066	0.650000	0.86243	GAG		0.607	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		5	86	0	0	0	0	5	86				
GIMAP5	55340	broad.mit.edu	37	7	150439815	150439815	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:150439815G>C	ENST00000358647.3	+	3	955	c.588G>C	c.(586-588)caG>caC	p.Q196H	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	196	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGAGCAGAGGCAGCAGC	0.582																																						uc003whr.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(586-588)CAG>CAC		GTPase, IMAP family member 5							66.0	65.0	65.0					7																	150439815		2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439815G>C	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.588G>C	7.37:g.150439815G>C	ENSP00000351473:p.Gln196His					GIMAP5_uc010lpu.2_Missense_Mutation_p.Q54H	p.Q196H	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	940	+			196			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.588G>C	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825140	0.32237	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.06608	3.28	4.15	4.15	0.48705	AIG1 (1);	0.386159	0.27956	N	0.017178	T	0.25568	0.0622	M	0.83953	2.67	0.33619	D	0.604543	D	0.89917	1.0	D	0.91635	0.999	T	0.39482	-0.9612	10	0.72032	D	0.01	.	11.7844	0.52034	0.0:0.0:1.0:0.0	.	196	Q96F15	GIMA5_HUMAN	H	196;232	ENSP00000351473:Q196H	ENSP00000351473:Q196H	Q	+	3	2	GIMAP5	150070748	0.021000	0.18746	0.909000	0.35828	0.018000	0.09664	2.375000	0.44283	2.143000	0.66587	0.655000	0.94253	CAG		0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		26	66	0	0	0	0	26	66				
DLGAP2	9228	broad.mit.edu	37	8	1497551	1497551	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:1497551C>T	ENST00000421627.2	+	2	826	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	310					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCTATCGGACGCCCAGCGTG	0.687																																						uc003wpl.2		NA																	0					0						c.(691-693)ACG>ATG		discs large-associated protein 2							48.0	60.0	56.0					8																	1497551		2177	4281	6458	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497551C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.692C>T	8.37:g.1497551C>T	ENSP00000400258:p.Thr231Met					DLGAP2_uc003wpm.2_Missense_Mutation_p.T231M	p.T231M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	789	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	310					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.692C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.97|14.97	2.693107|2.693107	0.48202|0.48202	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.46063	.|0.88	5.12|5.12	4.23|4.23	0.50019|0.50019	.|.	.|0.307935	.|0.39020	.|N	.|0.001485	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.72479|0.72479	2.2|2.2	0.09310|0.09310	N|N	0.999998|0.999998	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.58873	.|0.847;0.708	T|T	0.57441|0.57441	-0.7811|-0.7811	5|10	.|0.59425	.|D	.|0.04	-2.0453|-2.0453	15.5561|15.5561	0.76196|0.76196	0.0:0.8614:0.1386:0.0|0.0:0.8614:0.1386:0.0	.|.	.|310;310	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	C|M	248|276;231	.|ENSP00000400258:T231M	.|ENSP00000348366:T276M	R|T	+|+	1|2	0|0	DLGAP2|DLGAP2	1484958|1484958	0.977000|0.977000	0.34250|0.34250	0.001000|0.001000	0.08648|0.08648	0.188000|0.188000	0.23474|0.23474	7.007000|7.007000	0.76335|0.76335	1.125000|1.125000	0.41998|0.41998	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.687	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		13	97	0	0	0	0	13	97				
RP1	6101	broad.mit.edu	37	8	55541429	55541429	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:55541429G>A	ENST00000220676.1	+	4	5135	c.4987G>A	c.(4987-4989)Gaa>Aaa	p.E1663K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1663					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E1663Q(1)|p.E1663K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATTCTGTGGAATTTCAGTG	0.388																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4987-4989)GAA>AAA		retinitis pigmentosa RP1 protein							128.0	132.0	131.0					8																	55541429		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541429G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4987G>A	8.37:g.55541429G>A	ENSP00000220676:p.Glu1663Lys					RP1_uc011ldy.1_Intron	p.E1663K	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5135	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1663						Missense_Mutation	SNP	ENST00000220676.1	37	c.4987G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496982	0.26861	.	.	ENSG00000104237	ENST00000220676	T	0.23552	1.9	5.86	4.98	0.66077	.	0.364652	0.23618	N	0.046273	T	0.21509	0.0518	L	0.52364	1.645	0.30879	N	0.731606	P	0.43287	0.802	B	0.34489	0.184	T	0.22382	-1.0218	10	0.41790	T	0.15	-7.9424	12.7135	0.57102	0.0754:0.0:0.9246:0.0	.	1663	P56715	RP1_HUMAN	K	1663	ENSP00000220676:E1663K	ENSP00000220676:E1663K	E	+	1	0	RP1	55703982	1.000000	0.71417	0.975000	0.42487	0.253000	0.25986	2.800000	0.47900	2.770000	0.95276	0.655000	0.94253	GAA		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		74	225	0	0	0	0	74	225				
LRRCC1	85444	broad.mit.edu	37	8	86037161	86037161	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:86037161A>C	ENST00000360375.3	+	8	1408	c.1259A>C	c.(1258-1260)gAc>gCc	p.D420A	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D400A	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	420					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D420A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACTCAGAAGACAACACTTAC	0.299																																						uc003ycw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1258-1260)GAC>GCC		sodium channel associated protein 2 isoform a							59.0	57.0	57.0					8																	86037161		1807	4060	5867	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86037161A>C	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1259A>C	8.37:g.86037161A>C	ENSP00000353538:p.Asp420Ala					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.D121A|LRRCC1_uc003ycx.2_Missense_Mutation_p.D327A|LRRCC1_uc003ycy.2_Missense_Mutation_p.D400A	p.D420A	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			8	1413	+			420					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1259A>C	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983424	0.35036	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32515	1.45;1.45	4.49	3.34	0.38264	.	0.527157	0.15977	N	0.235503	T	0.29620	0.0739	L	0.54323	1.7	0.09310	N	1	D;P;D;P	0.55385	0.971;0.804;0.971;0.839	P;B;P;B	0.46758	0.526;0.218;0.526;0.11	T	0.08597	-1.0714	10	0.22109	T	0.4	-3.8985	6.6705	0.23066	0.8955:0.0:0.1045:0.0	.	327;400;327;420	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	A	420;400	ENSP00000353538:D420A;ENSP00000394695:D400A	ENSP00000353538:D420A	D	+	2	0	LRRCC1	86224413	0.939000	0.31865	0.069000	0.20011	0.497000	0.33675	2.413000	0.44618	1.054000	0.40438	0.533000	0.62120	GAC		0.299	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		36	89	0	0	0	0	36	89				
CSMD3	114788	broad.mit.edu	37	8	113323263	113323263	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:113323263C>A	ENST00000297405.5	-	50	8073	c.7829G>T	c.(7828-7830)tGc>tTc	p.C2610F	CSMD3_ENST00000352409.3_Missense_Mutation_p.C2540F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2570F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2506F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2610	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACTTTCTGCACACAGCACT	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7828-7830)TGC>TTC		CUB and Sushi multiple domains 3 isoform 1							160.0	130.0	140.0					8																	113323263		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113323263C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7829G>T	8.37:g.113323263C>A	ENSP00000297405:p.Cys2610Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C1812F|CSMD3_uc003ynt.2_Missense_Mutation_p.C2570F|CSMD3_uc011lhx.1_Missense_Mutation_p.C2506F|CSMD3_uc003ynw.1_Missense_Mutation_p.C321F	p.C2610F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			50	7988	-			2610			Extracellular (Potential).|Sushi 14.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7829G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933662	0.92458	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.97110	0.999;0.999;1.0	D	0.99016	1.0816	10	0.87932	D	0	.	19.6449	0.95773	0.0:1.0:0.0:0.0	.	2506;2610;2570	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2570;2610;1880;2506;2540	ENSP00000345799:C2570F;ENSP00000297405:C2610F;ENSP00000341558:C1880F;ENSP00000412263:C2506F;ENSP00000343124:C2540F	ENSP00000297405:C2610F	C	-	2	0	CSMD3	113392439	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.814000	0.86154	2.628000	0.89032	0.655000	0.94253	TGC		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	141	1	0	5.39e-06	5.77e-06	19	141				
ENPP2	5168	broad.mit.edu	37	8	120602836	120602836	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:120602836G>C	ENST00000075322.6	-	13	1174	c.1116C>G	c.(1114-1116)ttC>ttG	p.F372L	ENPP2_ENST00000522826.1_Missense_Mutation_p.F372L|ENPP2_ENST00000522167.1_Missense_Mutation_p.F11L|ENPP2_ENST00000427067.2_Missense_Mutation_p.F368L|ENPP2_ENST00000259486.6_Missense_Mutation_p.F424L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	372					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTACTCAAGAACTCAGTTC	0.353																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1114-1116)TTC>TTG		autotaxin isoform 2 preproprotein							100.0	102.0	101.0					8																	120602836		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120602836G>C	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1116C>G	8.37:g.120602836G>C	ENSP00000075322:p.Phe372Leu					ENPP2_uc003yor.1_Missense_Mutation_p.F11L|ENPP2_uc003yos.1_Missense_Mutation_p.F424L|ENPP2_uc010mdd.1_Missense_Mutation_p.F372L	p.F372L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		13	1202	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		372					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1116C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284323	0.59867	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.66	1.91	0.25777	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	L	0.41415	1.275	0.54753	D	0.999984	P;D;P;D	0.69078	0.786;0.997;0.936;0.985	P;P;P;P	0.56278	0.622;0.795;0.742;0.707	T	0.68062	-0.5508	10	0.72032	D	0.01	.	8.0243	0.30427	0.4446:0.0:0.5554:0.0	.	372;372;424;11	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	L	424;368;11;372;372	ENSP00000259486:F424L;ENSP00000403315:F368L;ENSP00000429476:F11L;ENSP00000428291:F372L;ENSP00000075322:F372L	ENSP00000075322:F372L	F	-	3	2	ENPP2	120672017	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	1.999000	0.40806	0.346000	0.23899	0.650000	0.86243	TTC		0.353	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			3	86	0	0	0	0	3	86				
FAM135B	51059	broad.mit.edu	37	8	139163666	139163666	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:139163666C>G	ENST00000395297.1	-	13	3222	c.3052G>C	c.(3052-3054)Gag>Cag	p.E1018Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1018								p.E1018Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTAAAGGTCTCTGCAGAAGTC	0.522										HNSCC(54;0.14)																												uc003yuy.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(7)|skin(2)	9						c.(3052-3054)GAG>CAG		hypothetical protein LOC51059							74.0	74.0	74.0					8																	139163666		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163666C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3052G>C	8.37:g.139163666C>G	ENSP00000378710:p.Glu1018Gln	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.E919Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E580Q|FAM135B_uc003yvb.2_Missense_Mutation_p.E580Q	p.E1018Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3223	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1018					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3052G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434635	0.43224	.	.	ENSG00000147724	ENST00000395297	T	0.20463	2.07	5.33	5.33	0.75918	.	0.382752	0.27941	N	0.017233	T	0.44435	0.1293	M	0.63428	1.95	0.29903	N	0.82426	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.77557	0.99;0.974;0.831	T	0.38779	-0.9645	10	0.52906	T	0.07	-24.6815	16.1735	0.81833	0.0:1.0:0.0:0.0	.	1018;1018;1018	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Q	1018	ENSP00000378710:E1018Q	ENSP00000276737:E1018Q	E	-	1	0	FAM135B	139232848	0.999000	0.42202	0.978000	0.43139	0.062000	0.15995	4.141000	0.58038	2.501000	0.84356	0.655000	0.94253	GAG		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		31	51	0	0	0	0	31	51				
KCNK9	51305	broad.mit.edu	37	8	140631107	140631107	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:140631107G>A	ENST00000520439.1	-	2	582	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_ENST00000303015.1_Silent_p.I173I|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	173					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGCCGCCCCGATGCACAGCG	0.562																																						uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(517-519)ATC>ATT		potassium channel, subfamily K, member 9							113.0	102.0	106.0					8																	140631107		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631107G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.519C>T	8.37:g.140631107G>A						KCNK9_uc003yvg.1_Silent_p.I173I|KCNK9_uc003yve.1_RNA	p.I173I	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	583	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	173			Helical; (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.519C>T	CCDS6377.1																																																																																				0.562	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		12	69	0	0	0	0	12	69				
TYRP1	7306	broad.mit.edu	37	9	12704633	12704633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:12704633G>T	ENST00000388918.5	+	6	1318	c.1189G>T	c.(1189-1191)Gat>Tat	p.D397Y	TYRP1_ENST00000381137.2_Missense_Mutation_p.D106Y|TYRP1_ENST00000381136.2_Missense_Mutation_p.D107Y|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	397					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTCTCCAAATGATCCTATTTT	0.443									Oculocutaneous Albinism																													uc003zkv.3		NA																	0				lung(1)	1						c.(1189-1191)GAT>TAT		tyrosinase-related protein 1 precursor							125.0	108.0	114.0					9																	12704633		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12704633G>T	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1189G>T	9.37:g.12704633G>T	ENSP00000373570:p.Asp397Tyr						p.D397Y	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	6	1367	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	397			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.1189G>T	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166447	0.78339	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.99872	-7.37;-7.37;-7.37	5.5	5.5	0.81552	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99904	0.9954	H	0.94847	3.59	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.96533	0.9394	10	0.87932	D	0	-23.9133	19.7537	0.96281	0.0:0.0:1.0:0.0	.	397	P17643	TYRP1_HUMAN	Y	106;397;107	ENSP00000370529:D106Y;ENSP00000373570:D397Y;ENSP00000370528:D107Y	ENSP00000370528:D107Y	D	+	1	0	TYRP1	12694633	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.322000	0.96357	2.736000	0.93811	0.591000	0.81541	GAT		0.443	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		24	169	1	0	1.43e-11	1.58e-11	24	169				
IARS	3376	broad.mit.edu	37	9	95050073	95050073	+	Splice_Site	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:95050073C>T	ENST00000375643.3	-	4	662	c.396G>A	c.(394-396)aaG>aaA	p.K132K	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Splice_Site_p.K22K|IARS_ENST00000443024.2_Splice_Site_p.K132K	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	132					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCCAACATACCTTCCACTCAG	0.383																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(394-396)AAG>AAA		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						180.0	156.0	164.0					9																	95050073		2203	4300	6503	SO:0001630	splice_region_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95050073C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.396+1G>A	9.37:g.95050073C>T						IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Silent_p.K132K|IARS_uc010mqr.2_Silent_p.K22K|IARS_uc010mqt.2_Intron	p.K132K	NM_013417	NP_038203	P41252	SYIC_HUMAN			4	653	-			132					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.396G>A	CCDS6694.1																																																																																				0.383	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161	Silent	31	176	0	0	0	0	31	176				
IPPK	64768	broad.mit.edu	37	9	95405069	95405069	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:95405069C>T	ENST00000287996.3	-	7	804	c.528G>A	c.(526-528)caG>caA	p.Q176Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	176					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ATTTGCTGATCTGCTTCCACT	0.547																																						uc004asl.1		NA																	0				ovary(2)	2						c.(526-528)CAG>CAA		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							188.0	139.0	156.0					9																	95405069		2203	4300	6503	SO:0001819	synonymous_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95405069C>T	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.528G>A	9.37:g.95405069C>T							p.Q176Q	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN			7	805	-			176					Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	c.528G>A	CCDS6699.1																																																																																				0.547	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		8	68	0	0	0	0	8	68				
TBC1D2	55357	broad.mit.edu	37	9	100971416	100971416	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:100971416C>T	ENST00000375064.1	-	9	1722	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	TBC1D2_ENST00000375063.1_Missense_Mutation_p.E102K|TBC1D2_ENST00000375066.5_Missense_Mutation_p.E562K|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E344K	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	562					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AAGCCGTACTCATCATACTTA	0.577																																						uc011lvb.1		NA																	0				ovary(3)	3						c.(1684-1686)GAG>AAG		TBC1 domain family, member 2							241.0	244.0	243.0					9																	100971416		2196	4293	6489	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971416C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1684G>A	9.37:g.100971416C>T	ENSP00000364205:p.Glu562Lys					TBC1D2_uc004ayp.2_Missense_Mutation_p.E102K|TBC1D2_uc004ayq.2_Missense_Mutation_p.E562K|TBC1D2_uc004ayr.2_Missense_Mutation_p.E344K|TBC1D2_uc004ayo.3_Missense_Mutation_p.E562K	p.E562K	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	1864	-		Myeloproliferative disorder(762;0.0255)	562					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.1684G>A		.	.	.	.	.	.	.	.	.	.	C	9.680	1.148989	0.21288	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.08984	3.33;3.03;3.44;3.06	5.77	3.93	0.45458	.	0.517672	0.22869	N	0.054653	T	0.08802	0.0218	M	0.64997	1.995	0.24881	N	0.992228	P;P	0.42692	0.682;0.787	B;B	0.39379	0.156;0.298	T	0.15263	-1.0443	10	0.13108	T	0.6	.	8.2446	0.31680	0.0:0.7606:0.0:0.2394	.	562;562	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	K	562;562;344;102	ENSP00000364205:E562K;ENSP00000364207:E562K;ENSP00000341567:E344K;ENSP00000364203:E102K	ENSP00000341567:E344K	E	-	1	0	TBC1D2	100011237	0.001000	0.12720	0.717000	0.30585	0.618000	0.37518	1.312000	0.33574	1.460000	0.47911	0.561000	0.74099	GAG		0.577	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		63	342	0	0	0	0	63	342				
SVEP1	79987	broad.mit.edu	37	9	113220760	113220760	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:113220760G>A	ENST00000401783.2	-	20	3903	c.3567C>T	c.(3565-3567)atC>atT	p.I1189I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.I1189I|SVEP1_ENST00000374469.1_Silent_p.I1166I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1189					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGACTGCTGATTTCATGCC	0.403																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(3565-3567)ATC>ATT		polydom							50.0	49.0	49.0					9																	113220760		1864	4116	5980	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113220760G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3567C>T	9.37:g.113220760G>A						SVEP1_uc010mua.1_Silent_p.I1189I	p.I1189I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			20	3904	-			1189					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.3567C>T	CCDS48004.1																																																																																				0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	43	0	0	0	0	6	43				
ZNF483	158399	broad.mit.edu	37	9	114304895	114304895	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:114304895C>T	ENST00000309235.5	+	6	1838	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	560					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAATCCTTCAGTCATAGCT	0.408																																						uc004bff.2		NA																	0				skin(1)	1						c.(1678-1680)TTC>TTT		zinc finger protein 483 isoform a							60.0	67.0	64.0					9																	114304895		2202	4300	6502	SO:0001819	synonymous_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304895C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1680C>T	9.37:g.114304895C>T						ZNF483_uc004bfg.2_Intron	p.F560F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1904	+			560			C2H2-type 5.		Q5VZN2|Q8NAE1	Silent	SNP	ENST00000309235.5	37	c.1680C>T	CCDS35106.1																																																																																				0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		16	140	0	0	0	0	16	140				
ZNF483	158399	broad.mit.edu	37	9	114304990	114304990	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:114304990C>T	ENST00000309235.5	+	6	1933	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	592					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGGCAGAATTCATGCCTTACC	0.398																																						uc004bff.2		NA																	0				skin(1)	1						c.(1774-1776)TCA>TTA		zinc finger protein 483 isoform a							57.0	62.0	60.0					9																	114304990		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304990C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1775C>T	9.37:g.114304990C>T	ENSP00000311679:p.Ser592Leu					ZNF483_uc004bfg.2_Intron	p.S592L	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1999	+			592			C2H2-type 6.		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1775C>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649207	0.67358	.	.	ENSG00000173258	ENST00000309235	T	0.01705	4.68	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.318108	0.23157	N	0.051296	T	0.04815	0.0130	M	0.79475	2.455	0.80722	D	1	D	0.54047	0.964	P	0.45310	0.476	T	0.28004	-1.0057	10	0.72032	D	0.01	-12.2821	14.0547	0.64761	0.0:1.0:0.0:0.0	.	592	Q8TF39	ZN483_HUMAN	L	592	ENSP00000311679:S592L	ENSP00000311679:S592L	S	+	2	0	ZNF483	113344811	0.000000	0.05858	0.997000	0.53966	0.917000	0.54804	0.821000	0.27338	2.436000	0.82500	0.655000	0.94253	TCA		0.398	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		13	104	0	0	0	0	13	104				
SNX30	401548	broad.mit.edu	37	9	115626607	115626607	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:115626607G>A	ENST00000374232.3	+	8	1346	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	SNX30_ENST00000604751.1_3'UTR	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	394					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.Q394Q(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGAGGTGGCAGAACAACAAGA	0.512																																						uc004bgj.3		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(1180-1182)CAG>CAA		sorting nexin family member 30							90.0	99.0	96.0					9																	115626607		2129	4238	6367	SO:0001819	synonymous_variant	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115626607G>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.1182G>A	9.37:g.115626607G>A						SNX30_uc004bgi.3_Silent_p.Q76Q	p.Q394Q	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			8	1330	+			394						Silent	SNP	ENST00000374232.3	37	c.1182G>A	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019600	0.19355	.	.	ENSG00000148158	ENST00000416585	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	T	0.76659	0.4018	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74284	-0.3715	4	.	.	.	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	.	.	.	K	94	.	.	R	+	2	0	SNX30	114666428	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.823000	0.69272	2.732000	0.93576	0.650000	0.86243	AGA		0.512	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			16	77	0	0	0	0	16	77				
RALGPS1	9649	broad.mit.edu	37	9	129975312	129975312	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:129975312G>A	ENST00000259351.5	+	17	1803	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	RALGPS1_ENST00000424082.2_Silent_p.L470L|RALGPS1_ENST00000373434.1_Silent_p.L462L|RP13-225O21.2_ENST00000453199.1_RNA	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	512	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				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.L462L(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTTCCAGCTGAACAACCCTG	0.542																																						uc004bqo.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1534-1536)CTG>CTA		Ral GEF with PH domain and SH3 binding motif 1							55.0	53.0	54.0					9																	129975312		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129975312G>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.1536G>A	9.37:g.129975312G>A						RALGPS1_uc011mac.1_Silent_p.L470L|RALGPS1_uc004bqq.3_Silent_p.L462L	p.L512L	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			17	1803	+			512			Required for stimulation of nucleotide exchange by RALA.|PH.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.1536G>A	CCDS35143.1																																																																																				0.542	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		22	51	0	0	0	0	22	51				
SARDH	1757	broad.mit.edu	37	9	136578232	136578232	+	Missense_Mutation	SNP	C	C	G	rs376813433		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:136578232C>G	ENST00000371872.4	-	9	1422	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	SARDH_ENST00000422262.2_Missense_Mutation_p.D221H|SARDH_ENST00000439388.1_Missense_Mutation_p.D389H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	389					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCTTGTGGTCGGGCGTGAAG	0.607																																						uc004cep.3		NA																	0					0						c.(1165-1167)GAC>CAC		sarcosine dehydrogenase precursor							41.0	43.0	43.0					9																	136578232		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136578232C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1165G>C	9.37:g.136578232C>G	ENSP00000360938:p.Asp389His					SARDH_uc004ceo.2_Missense_Mutation_p.D389H|SARDH_uc011mdn.1_Missense_Mutation_p.D389H|SARDH_uc011mdo.1_Missense_Mutation_p.D221H	p.D389H	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	9	1299	-			389					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1165G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859816	0.71834	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281	D;D;D	0.87334	-2.24;-2.24;-2.24	4.09	4.09	0.47781	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97903	1.0304	10	0.87932	D	0	-40.1511	16.6835	0.85299	0.0:1.0:0.0:0.0	.	389	Q9UL12	SARDH_HUMAN	H	389;389;221;389;389;389	ENSP00000360938:D389H;ENSP00000403084:D389H;ENSP00000415537:D221H	ENSP00000360938:D389H	D	-	1	0	SARDH	135568053	1.000000	0.71417	0.888000	0.34837	0.798000	0.45092	7.433000	0.80362	1.991000	0.58162	0.484000	0.47621	GAC		0.607	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			6	23	0	0	0	0	6	23				
BRD3	8019	broad.mit.edu	37	9	136906945	136906945	+	Silent	SNP	C	C	T	rs373525654		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:136906945C>T	ENST00000303407.7	-	8	1529	c.1344G>A	c.(1342-1344)tcG>tcA	p.S448S	BRD3_ENST00000473349.1_5'Flank|BRD3_ENST00000357885.2_Silent_p.S448S|BRD3_ENST00000371834.2_Silent_p.S448S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	448					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGCCTGAGTCCGAAGAGCTCT	0.701			T	C15orf55	lethal midline carcinoma of young people								C|||	1	0.000199681	0.0008	0.0	5008	,	,		14999	0.0		0.0	False		,,,				2504	0.0					uc004cew.2		NA		Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	NUT|C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				stomach(4)|midline_organs(3)|kidney(1)	8						c.(1342-1344)TCG>TCA		bromodomain containing protein 3		C		1,4405	2.1+/-5.4	0,1,2202	39.0	37.0	38.0		1344	-10.0	0.1	9		38	0,8600		0,0,4300	no	coding-synonymous	BRD3	NM_007371.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		448/727	136906945	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8019					nucleus	protein binding	g.chr9:136906945C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1344G>A	9.37:g.136906945C>T						BRD3_uc004cex.2_Silent_p.S448S	p.S448S	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1532	-			448					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	c.1344G>A	CCDS6980.1																																																																																				0.701	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		11	39	0	0	0	0	11	39				
SNAPC4	6621	broad.mit.edu	37	9	139273401	139273401	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:139273401C>T	ENST00000298532.2	-	21	3246	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGTTTGGCTGCCGCGGGGGCC	0.657																																						uc004chh.2		NA																	0					0						c.(2878-2880)GCA>ACA		small nuclear RNA activating complex,							17.0	19.0	18.0					9																	139273401		2192	4291	6483	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273401C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2878G>A	9.37:g.139273401C>T	ENSP00000298532:p.Ala960Thr						p.A960T	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2887	-		Myeloproliferative disorder(178;0.0511)	960			Pro-rich.			Missense_Mutation	SNP	ENST00000298532.2	37	c.2878G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109079	0.20714	.	.	ENSG00000165684	ENST00000298532	T	0.23552	1.9	3.15	-2.16	0.07080	.	1.528950	0.05751	N	0.603230	T	0.14830	0.0358	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.26677	-1.0096	10	0.25751	T	0.34	0.0809	2.2169	0.03962	0.143:0.1812:0.1413:0.5346	.	960	Q5SXM2	SNPC4_HUMAN	T	960	ENSP00000298532:A960T	ENSP00000298532:A960T	A	-	1	0	SNAPC4	138393222	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.216000	0.09266	-0.347000	0.08299	0.462000	0.41574	GCA		0.657	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	13	0	0	0	0	5	13				
FANCB	2187	broad.mit.edu	37	X	14883405	14883405	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:14883405G>C	ENST00000324138.3	-	2	381	c.228C>G	c.(226-228)atC>atG	p.I76M	FANCB_ENST00000398334.1_Missense_Mutation_p.I76M	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	76					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TGCAACACATGATTTTTAAAT	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1		NA																	0				lung(1)	1						c.(226-228)ATC>ATG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							42.0	45.0	44.0					X																	14883405		2200	4292	6492	SO:0001583	missense	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883405G>C	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.228C>G	X.37:g.14883405G>C	ENSP00000326819:p.Ile76Met					FANCB_uc004cwh.1_Missense_Mutation_p.I76M	p.I76M	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			3	496	-	Hepatocellular(33;0.183)		76					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.228C>G	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	3.966	-0.009328	0.07727	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03181	4.02;4.02;4.02	5.72	-2.48	0.06423	.	0.102069	0.64402	D	0.000002	T	0.03915	0.0110	L	0.46157	1.445	0.20489	N	0.999892	P	0.45715	0.865	B	0.43478	0.421	T	0.33523	-0.9865	10	0.39692	T	0.17	-15.0337	8.2441	0.31677	0.4341:0.2225:0.3435:0.0	.	76	Q8NB91	FANCB_HUMAN	M	76	ENSP00000326819:I76M;ENSP00000381378:I76M;ENSP00000397849:I76M	ENSP00000326819:I76M	I	-	3	3	FANCB	14793326	0.000000	0.05858	0.017000	0.16124	0.015000	0.08874	-2.049000	0.01405	-0.546000	0.06216	-0.340000	0.08031	ATC		0.299	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		5	101	0	0	0	0	5	101				
RGN	9104	broad.mit.edu	37	X	46951163	46951163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:46951163G>C	ENST00000352078.4	+	5	994	c.649G>C	c.(649-651)Gcc>Ccc	p.A217P	RGN_ENST00000336169.3_Missense_Mutation_p.A217P|RGN_ENST00000457380.1_Missense_Mutation_p.A145P|RGN_ENST00000397180.1_Missense_Mutation_p.A217P	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	217					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GCTCTGGGTGGCCTGTTACAA	0.458																																						uc004dgz.1		NA																	0					0						c.(649-651)GCC>CCC		regucalcin							145.0	124.0	132.0					X																	46951163		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951163G>C	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.649G>C	X.37:g.46951163G>C	ENSP00000253303:p.Ala217Pro					RGN_uc004dha.1_Missense_Mutation_p.A217P|RGN_uc010nho.1_Missense_Mutation_p.A164P|RGN_uc010nhp.1_Missense_Mutation_p.A145P	p.A217P	NM_152869	NP_690608	Q15493	RGN_HUMAN			6	1618	+			217					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.649G>C	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286886	0.95517	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	6.02	6.02	0.97574	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.097202	0.64402	D	0.000001	T	0.79551	0.4465	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.91635	0.999;0.846	D	0.86989	0.2109	10	0.87932	D	0	-16.4999	19.4809	0.95009	0.0:0.0:1.0:0.0	.	145;217	Q15493-2;Q15493	.;RGN_HUMAN	P	217;145;217;217	ENSP00000380365:A217P;ENSP00000406568:A145P;ENSP00000253303:A217P;ENSP00000338400:A217P	ENSP00000338400:A217P	A	+	1	0	RGN	46836107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.716000	0.91420	2.555000	0.86185	0.591000	0.81541	GCC		0.458	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		5	122	0	0	0	0	5	122				
LPAR4	2846	broad.mit.edu	37	X	78010407	78010407	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:78010407C>G	ENST00000435339.3	+	2	427	c.41C>G	c.(40-42)tCa>tGa	p.S14*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	14					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.S14*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTCCAAGATTCAAATTCAAGC	0.448																																						uc010nme.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(3)	3						c.(40-42)TCA>TGA		lysophosphatidic acid receptor 4							135.0	116.0	123.0					X																	78010407		2203	4300	6503	SO:0001587	stop_gained	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010407C>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.41C>G	X.37:g.78010407C>G	ENSP00000408205:p.Ser14*						p.S14*	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	446	+			14			Extracellular (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	c.41C>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624856	0.96660	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	3.46	2.3	0.28687	.	0.807980	0.09846	U	0.748199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	4.4785	0.11755	0.0:0.3015:0.0:0.6985	.	.	.	.	X	14	.	ENSP00000362398:S14X	S	+	2	0	LPAR4	77897063	0.033000	0.19621	1.000000	0.80357	0.972000	0.66771	-0.130000	0.10498	0.548000	0.28955	-0.444000	0.05651	TCA		0.448	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		27	125	0	0	0	0	27	125				
DACH2	117154	broad.mit.edu	37	X	86068141	86068141	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:86068141G>A	ENST00000373125.4	+	9	1398	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	DACH2_ENST00000373131.1_Silent_p.L453L|DACH2_ENST00000510272.1_Silent_p.L247L|DACH2_ENST00000508860.1_Silent_p.L299L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	466	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGGTCTGCTGAAAGTTGCTT	0.368																																						uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1396-1398)CTG>CTA		dachshund 2 isoform a							34.0	32.0	33.0					X																	86068141		2200	4298	6498	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068141G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1398G>A	X.37:g.86068141G>A						DACH2_uc004eex.2_Silent_p.L453L|DACH2_uc010nmq.2_Silent_p.L332L|DACH2_uc011mra.1_Silent_p.L299L|DACH2_uc010nmr.2_Silent_p.L247L|DACH2_uc004eey.2_Silent_p.L159L|DACH2_uc004eez.2_Silent_p.L149L	p.L466L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			9	1568	+			466			Potential.|DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.1398G>A	CCDS14455.1																																																																																				0.368	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		4	22	0	0	0	0	4	22				
PRPS1	5631	broad.mit.edu	37	X	106882553	106882553	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:106882553G>C	ENST00000372435.4	+	2	273	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	PRPS1_ENST00000543248.1_Missense_Mutation_p.E51Q|PRPS1_ENST00000372419.3_Missense_Mutation_p.E51Q|PRPS1_ENST00000372418.1_5'Flank|PRPS1_ENST00000372428.4_5'UTR	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	51					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TGTACGTGGAGAGGATGTCTA	0.408																																						uc004ene.3		NA																	0				breast(3)|large_intestine(1)	4						c.(151-153)GAG>CAG		phosphoribosyl pyrophosphate synthetase 1							235.0	217.0	223.0					X																	106882553		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106882553G>C	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.151G>C	X.37:g.106882553G>C	ENSP00000361512:p.Glu51Gln					PRPS1_uc010npg.2_Missense_Mutation_p.E51Q|PRPS1_uc011msj.1_Intron	p.E51Q	NM_002764	NP_002755	P60891	PRPS1_HUMAN			2	356	+			51					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.151G>C	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548234	0.65311	.	.	ENSG00000147224	ENST00000372435;ENST00000372419;ENST00000543248	D;D;D	0.91407	-2.84;-2.84;-2.84	4.7	4.7	0.59300	.	0.051129	0.85682	D	0.000000	D	0.93723	0.7994	M	0.67397	2.05	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.62885	0.908;0.908	D	0.92789	0.6247	10	0.33940	T	0.23	.	16.3617	0.83270	0.0:0.0:1.0:0.0	.	51;51	Q53FW2;P60891	.;PRPS1_HUMAN	Q	51	ENSP00000361512:E51Q;ENSP00000361496:E51Q;ENSP00000443185:E51Q	ENSP00000361496:E51Q	E	+	1	0	PRPS1	106769209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	2.261000	0.74972	0.600000	0.82982	GAG		0.408	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			56	289	0	0	0	0	56	289				
KIAA1210	57481	broad.mit.edu	37	X	118284511	118284511	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:118284511G>A	ENST00000402510.2	-	1	31	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	11								p.S11F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGAAAGGCAGAGAAGCCTCG	0.642																																						uc004era.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|skin(1)	5						c.(31-33)TCT>TTT		hypothetical protein LOC57481							55.0	64.0	61.0					X																	118284511		2006	4146	6152	SO:0001583	missense	57481							g.chrX:118284511G>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.32C>T	X.37:g.118284511G>A	ENSP00000384670:p.Ser11Phe						p.S11F	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			1	32	-			11					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.32C>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827846	0.16749	.	.	ENSG00000250423	ENST00000402510	T	0.12984	2.63	2.18	1.26	0.21427	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	P	0.62491	0.903	T	0.16660	-1.0395	9	0.87932	D	0	.	5.2158	0.15342	0.0:0.0:0.6581:0.3419	.	11	Q9ULL0	K1210_HUMAN	F	11	ENSP00000384670:S11F	ENSP00000384670:S11F	S	-	2	0	RP13-347D8.6	118168539	0.004000	0.15560	0.013000	0.15412	0.018000	0.09664	-0.151000	0.10175	0.315000	0.23110	0.513000	0.50165	TCT		0.642	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		21	94	0	0	0	0	21	94				
TENM1	10178	broad.mit.edu	37	X	123517613	123517613	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:123517613C>T	ENST00000371130.3	-	29	7210	c.7147G>A	c.(7147-7149)Ggc>Agc	p.G2383S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.G2390S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2383					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G2385S(1)									GTCCATCTGCCAGCAACAACA	0.413																																						uc004euj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7147-7149)GGC>AGC		odz, odd Oz/ten-m homolog 1 isoform 3							150.0	142.0	144.0					X																	123517613		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123517613C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7147G>A	X.37:g.123517613C>T	ENSP00000360171:p.Gly2383Ser					ODZ1_uc011muj.1_Missense_Mutation_p.G2389S|ODZ1_uc010nqy.2_Missense_Mutation_p.G2390S	p.G2383S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	7211	-			2383			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7147G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392349	0.83011	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.93659	-3.26;-3.22	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.992	D	0.98797	1.0738	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	2389;2390;2383	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	2383;2390	ENSP00000360171:G2383S;ENSP00000403954:G2390S	ENSP00000360171:G2383S	G	-	1	0	ODZ1	123345294	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.776000	0.85560	2.471000	0.83476	0.600000	0.82982	GGC		0.413	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		63	131	0	0	0	0	63	131				
GPC3	2719	broad.mit.edu	37	X	132730493	132730493	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:132730493C>T	ENST00000370818.3	-	7	1993	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	GPC3_ENST00000394299.2_Silent_p.V539V|GPC3_ENST00000543339.1_Silent_p.V462V	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	516					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GCTGATTCTTCACTTTTATCA	0.418			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1		NA	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			0				lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(1546-1548)GTG>GTA		glypican 3 isoform 2 precursor							204.0	174.0	184.0					X																	132730493		2203	4300	6503	SO:0001819	synonymous_variant	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132730493C>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1548G>A	X.37:g.132730493C>T						GPC3_uc004exd.1_Silent_p.V388V|GPC3_uc010nrn.1_Silent_p.V539V|GPC3_uc011mvh.1_Silent_p.V500V|GPC3_uc010nro.1_Silent_p.V462V	p.V516V	NM_004484	NP_004475	P51654	GPC3_HUMAN			7	1738	-	Acute lymphoblastic leukemia(192;0.000127)		516					C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	c.1548G>A	CCDS14638.1																																																																																				0.418	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		15	253	0	0	0	0	15	253				
RP1L1	94137	broad.mit.edu	37	8	10464991	10465038	+	In_Frame_Del	DEL	TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	TGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	-	rs200967543|rs75797924|rs373897389|rs200407750|rs201246119|rs200588941|rs375114484|rs192990137	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:10464991_10465038delTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	ENST00000382483.3	-	4	6793_6840	c.6570_6617delGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCA	c.(6568-6618)cagccagagtcagaaggtatagaggccccagaggcagaaggggaggcccaa>caa	p.2190_2206QPESEGIEAPEAEGEAQ>Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2270	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E2197D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TAACTCTGGTTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGCTGGGCCTCCC	0.629																																						uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6568-6618)CAGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCAA>CAA		retinitis pigmentosa 1-like 1																																				SO:0001651	inframe_deletion	94137				intracellular signal transduction			g.chr8:10464991_10465038delTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6570_6617delGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCA	8.37:g.10464991_10465038delTGGGCCTCCCCTTCTGCCTCTGGGGCCTCTATACCTTCTGACTCTGGC	ENSP00000371923:p.Gln2190_Ala2205del						p.2190_2206QPESEGIEAPEAEGEAQ>Q	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6799_6846	-			2190_2206					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	c.6570_6617delGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCAGAAGGGGAGGCCCA	CCDS43708.1																																																																																				0.629	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			27	445	NA	NA	NA	NA	27	445	---	---	---	---
