#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_type
KIAA0754	643314	broad.mit.edu	37	1	39879392	39879392	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr1:39879392C>T	ENST00000530275.1	+	1	3242	c.3047C>T	c.(3046-3048)aCc>aTc	p.T1016I	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1016	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGTGCCCACCCCAGAGGAA	0.682																																																0			1											15.0	19.0	18.0					1																	39879392		1915	4128	6043	39651979	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3047C>T	1.37:g.39879392C>T	ENSP00000431179:p.Thr1016Ile		39651979	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	N	15.77	2.931694	0.52866	.	.	ENSG00000255103	ENST00000530275	T	0.24151	1.87	5.07	-0.262	0.12958	.	.	.	.	.	T	0.27419	0.0673	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.15378	-1.0439	9	0.56958	D	0.05	.	5.508	0.16864	0.0:0.5349:0.1371:0.328	.	1016	O94854	K0754_HUMAN	I	1016	ENSP00000431179:T1016I	ENSP00000431179:T1016I	T	+	2	0	RP4-562N20.1	39651979	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.391000	0.07323	-0.060000	0.13132	0.498000	0.49722	ACC		0.682	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		Missense_Mutation
OR10T2	128360	broad.mit.edu	37	1	158369202	158369202	+	Missense_Mutation	SNP	A	A	G	rs147666373		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr1:158369202A>G	ENST00000334438.1	-	1	54	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S19P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCAGGCTGGAGAAACCCACC	0.453																																																1	Substitution - Missense(1)	ovary(1)	1						A	PRO/SER	0,4406		0,0,2203	34.0	38.0	37.0		55	4.7	1.0	1	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10T2	NM_001004475.1	74	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	19/315	158369202	1,13005	2203	4300	6503	156635826	SO:0001583	missense	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.55T>C	1.37:g.158369202A>G	ENSP00000334115:p.Ser19Pro		156635826	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625638	0.66901	0.0	1.16E-4	ENSG00000186306	ENST00000334438	T	0.00617	6.19	4.65	4.65	0.58169	.	0.000000	0.37761	U	0.001958	T	0.01254	0.0041	M	0.63169	1.94	0.25448	N	0.988033	D	0.89917	1.0	D	0.91635	0.999	T	0.45644	-0.9247	10	0.59425	D	0.04	.	13.1803	0.59651	1.0:0.0:0.0:0.0	.	19	Q8NGX3	O10T2_HUMAN	P	19	ENSP00000334115:S19P	ENSP00000334115:S19P	S	-	1	0	OR10T2	156635826	0.000000	0.05858	0.998000	0.56505	0.937000	0.57800	-0.360000	0.07622	1.939000	0.56221	0.482000	0.46254	TCC		0.453	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		Missense_Mutation
F5	2153	broad.mit.edu	37	1	169519083	169519083	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr1:169519083G>T	ENST00000367797.3	-	10	1768	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	F5_ENST00000546081.1_3'UTR|F5_ENST00000367796.3_Missense_Mutation_p.L523I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	523	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L523I(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAGATTAGAAGTAGTCCTATT	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											154.0	141.0	146.0					1																	169519083		2203	4300	6503	167785707	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1567C>A	1.37:g.169519083G>T	ENSP00000356771:p.Leu523Ile		167785707	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504434	0.85176	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99270	-5.66;-5.66	5.71	5.71	0.89125	Cupredoxin (2);	0.070004	0.56097	D	0.000022	D	0.98963	0.9647	L	0.55834	1.745	0.38861	D	0.956475	D	0.62365	0.991	P	0.57101	0.813	D	0.99860	1.1082	9	0.72032	D	0.01	-20.6682	19.8398	0.96678	0.0:0.0:1.0:0.0	.	523	P12259	FA5_HUMAN	I	523	ENSP00000356771:L523I;ENSP00000356770:L523I	ENSP00000356770:L523I	L	-	1	0	F5	167785707	1.000000	0.71417	0.821000	0.32701	0.982000	0.71751	5.082000	0.64450	2.697000	0.92050	0.655000	0.94253	CTT		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		Missense_Mutation
SFMBT2	57713	broad.mit.edu	37	10	7239546	7239546	+	Silent	SNP	C	C	T	rs199694660		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr10:7239546C>T	ENST00000361972.4	-	15	1752	c.1662G>A	c.(1660-1662)tcG>tcA	p.S554S	SFMBT2_ENST00000397167.1_Silent_p.S554S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	554					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.S554S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCGGTCCCACCGACTGAGGTA	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21337	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	10											118.0	111.0	113.0					10																	7239546		2203	4300	6503	7279552	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1662G>A	10.37:g.7239546C>T			7279552	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1	SNP	23	Broad																																																																																				0.488	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		Silent
CNNM1	26507	broad.mit.edu	37	10	101147759	101147759	+	Splice_Site	SNP	G	G	A	rs149086964		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr10:101147759G>A	ENST00000356713.4	+	8	2812	c.2523G>A	c.(2521-2523)ccG>ccA	p.P841P	CNNM1_ENST00000370534.4_Splice_Site_p.P497P|CNNM1_ENST00000446890.1_Splice_Site_p.P770P|CNNM1_ENST00000370528.3_Splice_Site_p.P770P	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	841					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.P476P(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACAGCCTGCCGTGTAAGTCAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		20163	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	10						G		5,4401	8.1+/-20.4	0,5,2198	26.0	29.0	28.0		2523	-3.7	0.9	10	dbSNP_134	28	0,8600		0,0,4300	yes	coding-synonymous-near-splice	CNNM1	NM_020348.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		841/952	101147759	5,13001	2203	4300	6503	101137749	SO:0001630	splice_region_variant	26507			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2524+1G>A	10.37:g.101147759G>A			101137749	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	CCDS7478.2	SNP	40	Broad																																																																																				0.647	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	Silent	Silent
CFAP58	159686	broad.mit.edu	37	10	106121820	106121820	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr10:106121820G>T	ENST00000369704.3	+	3	465	c.331G>T	c.(331-333)Gac>Tac	p.D111Y	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		111						extracellular space (GO:0005615)		p.D111Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTCAGCCTATGACAAAGAGCA	0.463																																																1	Substitution - Missense(1)	ovary(1)	10											126.0	113.0	118.0					10																	106121820		2203	4300	6503	106111810	SO:0001583	missense	159686																														ENST00000369704.3:c.331G>T	10.37:g.106121820G>T	ENSP00000358718:p.Asp111Tyr		106111810	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465577	0.84425	.	.	ENSG00000120051	ENST00000369704	T	0.34072	1.38	6.17	5.27	0.74061	.	0.149930	0.64402	D	0.000009	T	0.54271	0.1848	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	P	0.62560	0.904	T	0.57487	-0.7803	10	0.66056	D	0.02	-29.1426	15.4602	0.75349	0.066:0.0:0.934:0.0	.	111	Q5T655	CC147_HUMAN	Y	111	ENSP00000358718:D111Y	ENSP00000358718:D111Y	D	+	1	0	CCDC147	106111810	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.687000	0.98667	1.616000	0.50265	0.655000	0.94253	GAC		0.463	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			Missense_Mutation
SORCS1	114815	broad.mit.edu	37	10	108923995	108923996	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr10:108923995_108923996GC>AA	ENST00000263054.6	-	1	296_297	c.289_290GC>TT	c.(289-291)GCa>TTa	p.A97L	SORCS1_ENST00000344440.6_Missense_Mutation_p.A97L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	97					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A97L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGCCATGGATGCCCCAGTGCCC	0.728																																																1	Substitution - Missense(1)	ovary(1)	10																																								108913986	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.289_290delinsAA	10.37:g.108923995_108923996delinsAA	ENSP00000263054:p.Ala97Leu		108913985	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	DNP	ENST00000263054.6	37	CCDS7559.1	DNP	46	Broad																																																																																				0.728	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		Missense_Mutation
OR52E2	119678	broad.mit.edu	37	11	5080594	5080594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:5080594C>T	ENST00000321522.2	-	1	263	c.264G>A	c.(262-264)tgG>tgA	p.W88*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W88*(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGGTTGATCCAGAAGATTC	0.498																																																1	Substitution - Nonsense(1)	ovary(1)	11											88.0	81.0	83.0					11																	5080594		2201	4298	6499	5037170	SO:0001587	stop_gained	119678			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.264G>A	11.37:g.5080594C>T	ENSP00000322088:p.Trp88*		5037170		Nonsense_Mutation	SNP	ENST00000321522.2	37	CCDS31371.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646800	0.29246	.	.	ENSG00000176787	ENST00000321522	.	.	.	3.77	3.77	0.43336	.	0.000000	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4564	0.75318	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000322088:W88X	W	-	3	0	OR52E2	5037170	0.021000	0.18746	0.940000	0.37924	0.088000	0.18126	1.788000	0.38714	2.429000	0.82318	0.650000	0.86243	TGG		0.498	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		Nonsense_Mutation
OR8K5	219453	broad.mit.edu	37	11	55927008	55927008	+	Silent	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:55927008G>T	ENST00000313447.1	-	1	785	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262P(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGTGGAATTGGGCTGCATGT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	11											109.0	94.0	99.0					11																	55927008		2201	4296	6497	55683584	SO:0001819	synonymous_variant	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.786C>A	11.37:g.55927008G>T			55683584	Q6IFB5	Silent	SNP	ENST00000313447.1	37	CCDS31521.1	SNP	47	Broad																																																																																				0.418	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		Silent
OR9Q2	219957	broad.mit.edu	37	11	57958120	57958120	+	Missense_Mutation	SNP	G	G	A	rs375904836		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:57958120G>A	ENST00000311591.3	+	1	215	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R53H(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGTGGCGATCGTCGGCTCCAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	11						G	HIS/ARG	0,4402		0,0,2201	123.0	88.0	100.0		158	1.3	0.1	11		100	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR9Q2	NM_001005283.2	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	53/315	57958120	1,12993	2201	4296	6497	57714696	SO:0001583	missense	219957			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.158G>A	11.37:g.57958120G>A	ENSP00000308714:p.Arg53His		57714696		Missense_Mutation	SNP	ENST00000311591.3	37	CCDS31544.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102870	0.06967	0.0	1.16E-4	ENSG00000186513	ENST00000311591	T	0.01084	5.36	5.43	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.611127	0.14730	N	0.301820	T	0.00695	0.0023	N	0.04655	-0.195	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48375	-0.9041	10	0.66056	D	0.02	-1.7086	5.1523	0.15017	0.329:0.3023:0.3687:0.0	.	53	Q8NGE9	OR9Q2_HUMAN	H	53	ENSP00000308714:R53H	ENSP00000308714:R53H	R	+	2	0	OR9Q2	57714696	0.001000	0.12720	0.147000	0.22382	0.046000	0.14306	0.691000	0.25467	0.785000	0.33685	-0.136000	0.14681	CGT		0.532	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		Missense_Mutation
PYGM	5837	broad.mit.edu	37	11	64514214	64514214	+	Missense_Mutation	SNP	G	G	C	rs143177272	byFrequency	TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:64514214G>C	ENST00000164139.3	-	20	2844	c.2446C>G	c.(2446-2448)Cgc>Ggc	p.R816G	RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000394432.3_5'Flank|RASGRP2_ENST00000377494.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R728G|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	816					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R816G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAATGGTGCGGTCACTGGAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	11											114.0	109.0	111.0					11																	64514214		2201	4297	6498	64270790	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2446C>G	11.37:g.64514214G>C	ENSP00000164139:p.Arg816Gly		64270790	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860506	0.71834	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96136	-3.92;-3.92	4.39	3.47	0.39725	.	0.000000	0.46145	D	0.000307	D	0.98492	0.9497	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97847	1.0272	10	0.87932	D	0	-16.3922	9.5257	0.39162	0.0:0.0:0.6169:0.3831	.	728;816	A6NDY6;P11217	.;PYGM_HUMAN	G	728;816;797	ENSP00000366650:R728G;ENSP00000164139:R816G	ENSP00000164139:R816G	R	-	1	0	PYGM	64270790	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.123000	0.50453	1.060000	0.40578	0.462000	0.41574	CGC		0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		Missense_Mutation
ANKRD13D	338692	broad.mit.edu	37	11	67068552	67068552	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:67068552G>A	ENST00000447274.2	+	11	2079	c.904G>A	c.(904-906)Gct>Act	p.A302T	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.A39T|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A389T|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A302T|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A302T			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	302						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.A302T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCAGCAACGCTCACTTTGC	0.607																																																1	Substitution - Missense(1)	ovary(1)	11											156.0	129.0	138.0					11																	67068552		2200	4295	6495	66825128	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.904G>A	11.37:g.67068552G>A	ENSP00000402616:p.Ala302Thr		66825128	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37		SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477916	0.63849	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	L	0.28192	0.835	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.82;0.743	D;P;B	0.79108	0.992;0.496;0.362	T	0.25950	-1.0117	10	0.22706	T	0.39	-18.6775	12.8467	0.57833	0.0:0.0:0.8369:0.1631	.	39;389;302	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	T	302;389;302;302;39	ENSP00000402616:A302T;ENSP00000427130:A389T;ENSP00000310874:A302T;ENSP00000444404:A302T;ENSP00000443977:A39T	ENSP00000310874:A302T	A	+	1	0	ANKRD13D	66825128	1.000000	0.71417	0.968000	0.41197	0.762000	0.43233	9.630000	0.98420	2.517000	0.84864	0.561000	0.74099	GCT		0.607	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		Missense_Mutation
ANKK1	255239	broad.mit.edu	37	11	113270728	113270728	+	Silent	SNP	A	A	T	rs17115461	byFrequency	TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:113270728A>T	ENST00000303941.3	+	8	2131	c.2037A>T	c.(2035-2037)ctA>ctT	p.L679L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	679							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L679L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCAACCTCCTAGAACATCACG	0.622																																																1	Substitution - coding silent(1)	ovary(1)	11											67.0	75.0	72.0					11																	113270728		2073	4194	6267	112775938	SO:0001819	synonymous_variant	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2037A>T	11.37:g.113270728A>T			112775938		Silent	SNP	ENST00000303941.3	37	CCDS44734.1	SNP	15	Broad																																																																																				0.622	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		Silent
NLRX1	79671	broad.mit.edu	37	11	119052877	119052877	+	Missense_Mutation	SNP	C	C	T	rs148037206		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr11:119052877C>T	ENST00000409109.1	+	9	3016	c.2429C>T	c.(2428-2430)aCg>aTg	p.T810M	NLRX1_ENST00000409265.4_Missense_Mutation_p.T810M|NLRX1_ENST00000525863.1_Missense_Mutation_p.T810M|NLRX1_ENST00000292199.2_Missense_Mutation_p.T810M|NLRX1_ENST00000409991.1_Missense_Mutation_p.T810M	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	810	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.T810M(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACCTCAGTGACGCACCTGTCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	11						C	MET/THR,MET/THR	2,4398	4.2+/-10.8	0,2,2198	91.0	87.0	88.0		2429,2429	2.9	0.5	11	dbSNP_134	88	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	NLRX1	NM_024618.2,NM_170722.1	81,81	0,3,6492	TT,TC,CC		0.0116,0.0455,0.0231	benign,benign	810/976,810/922	119052877	3,12987	2200	4295	6495	118558087	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2429C>T	11.37:g.119052877C>T	ENSP00000387334:p.Thr810Met		118558087	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	6.195	0.404074	0.11754	4.55E-4	1.16E-4	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	4.78	2.89	0.33648	.	0.135218	0.45867	D	0.000336	T	0.59689	0.2212	M	0.75615	2.305	0.09310	N	1	D;B	0.76494	0.999;0.205	P;B	0.55667	0.781;0.015	T	0.52373	-0.8584	10	0.51188	T	0.08	.	5.3811	0.16192	0.1233:0.5316:0.2646:0.0805	.	810;810	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	M	810	ENSP00000386851:T810M;ENSP00000292199:T810M;ENSP00000386858:T810M;ENSP00000387334:T810M;ENSP00000433442:T810M	ENSP00000292199:T810M	T	+	2	0	NLRX1	118558087	0.003000	0.15002	0.470000	0.27216	0.227000	0.25037	0.018000	0.13422	0.610000	0.30035	0.609000	0.83330	ACG		0.652	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		Missense_Mutation
YBX3	8531	broad.mit.edu	37	12	10865817	10865817	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:10865817G>T	ENST00000228251.4	-	5	766	c.566C>A	c.(565-567)cCc>cAc	p.P189H	YBX3_ENST00000279550.7_Missense_Mutation_p.P189H	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	189					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P189H(1)									TACATTCCGGGGAGGGCCACG	0.502																																																1	Substitution - Missense(1)	ovary(1)	12											84.0	94.0	90.0					12																	10865817		2203	4300	6503	10757084	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.566C>A	12.37:g.10865817G>T	ENSP00000228251:p.Pro189His		10757084	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586847	0.86851	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.28454	1.67;1.61	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	T	0.58104	0.2099	M	0.76838	2.35	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.59968	-0.7354	10	0.54805	T	0.06	.	16.8488	0.85988	0.0:0.0:1.0:0.0	.	189;189	P16989-2;P16989	.;DBPA_HUMAN	H	189	ENSP00000279550:P189H;ENSP00000228251:P189H	ENSP00000228251:P189H	P	-	2	0	CSDA	10757084	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.444000	0.80532	2.569000	0.86673	0.491000	0.48974	CCC		0.502	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		Missense_Mutation
KIF5A	3798	broad.mit.edu	37	12	57962813	57962813	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:57962813C>T	ENST00000455537.2	+	9	1056	c.782C>T	c.(781-783)gCt>gTt	p.A261V	KIF5A_ENST00000286452.5_Missense_Mutation_p.A172V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	261	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A261V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCACTGTCAGCTCTGGGCAAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	12											182.0	131.0	149.0					12																	57962813		2203	4300	6503	56249080	SO:0001583	missense	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.782C>T	12.37:g.57962813C>T	ENSP00000408979:p.Ala261Val		56249080	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	32	5.121043	0.94385	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.76709	-1.04;-1.04	4.23	4.23	0.50019	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85915	0.5808	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.961;0.993	D	0.87585	0.2487	10	0.72032	D	0.01	.	15.9283	0.79639	0.0:1.0:0.0:0.0	.	172;261	B7Z2M7;Q12840	.;KIF5A_HUMAN	V	261;172	ENSP00000408979:A261V;ENSP00000286452:A172V	ENSP00000286452:A172V	A	+	2	0	KIF5A	56249080	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.444000	0.80532	2.362000	0.80069	0.555000	0.69702	GCT		0.562	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		Missense_Mutation
TCP11L2	255394	broad.mit.edu	37	12	106715293	106715293	+	Silent	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:106715293C>T	ENST00000299045.3	+	5	618	c.444C>T	c.(442-444)ggC>ggT	p.G148G	TCP11L2_ENST00000546625.1_Silent_p.G148G|TCP11L2_ENST00000547153.1_Silent_p.G148G	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	148								p.G148G(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CTCCCGGTGGCAACCGGCTTC	0.458																																																1	Substitution - coding silent(1)	ovary(1)	12											47.0	45.0	45.0					12																	106715293		2203	4300	6503	105239423	SO:0001819	synonymous_variant	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.444C>T	12.37:g.106715293C>T			105239423	B2RA65|G3V1Y9	Silent	SNP	ENST00000299045.3	37	CCDS9104.1	SNP	25	Broad																																																																																				0.458	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		Silent
TBX5	6910	broad.mit.edu	37	12	114793544	114793544	+	Silent	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:114793544C>T	ENST00000310346.4	-	9	2016	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	TBX5_ENST00000405440.2_Silent_p.L450L|TBX5_ENST00000349716.5_Silent_p.L400L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	450				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L450L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTCCCTCTCCCAGCTGTGGGG	0.662																																					NSCLC(152;1358 1980 4050 23898 40356)											1	Substitution - coding silent(1)	ovary(1)	12											26.0	28.0	28.0					12																	114793544		2203	4300	6503	113277927	SO:0001819	synonymous_variant	6910			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1350G>A	12.37:g.114793544C>T			113277927	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1	SNP	21	Broad																																																																																				0.662	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		Silent
KNTC1	9735	broad.mit.edu	37	12	123042002	123042002	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:123042002G>C	ENST00000333479.7	+	17	1521	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	KNTC1_ENST00000450485.2_Missense_Mutation_p.Q411H	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	448					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.Q448H(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAGTGAACAGACCGAATGGC	0.388																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	12											126.0	116.0	119.0					12																	123042002		1885	4124	6009	121607955	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1344G>C	12.37:g.123042002G>C	ENSP00000328236:p.Gln448His		121607955	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396422	0.11638	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.23552	1.9;2.48	5.74	0.806	0.18708	.	0.332014	0.32357	N	0.006218	T	0.22166	0.0534	L	0.51422	1.61	0.09310	N	0.999991	B;B	0.16603	0.009;0.018	B;B	0.16289	0.015;0.008	T	0.21895	-1.0232	10	0.48119	T	0.1	-0.5724	11.1589	0.48503	0.489:0.0:0.511:0.0	.	411;448	E7ES84;P50748	.;KNTC1_HUMAN	H	411;448	ENSP00000397992:Q411H;ENSP00000328236:Q448H	ENSP00000328236:Q448H	Q	+	3	2	KNTC1	121607955	0.235000	0.23794	0.012000	0.15200	0.099000	0.18886	0.309000	0.19332	0.165000	0.19558	-0.471000	0.05019	CAG		0.388	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			Missense_Mutation
DNAH10	196385	broad.mit.edu	37	12	124332509	124332509	+	Splice_Site	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:124332509C>T	ENST00000409039.3	+	32	5487	c.5462C>T	c.(5461-5463)gCg>gTg	p.A1821V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1821	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A413V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTATAACAGGCGCTGTCCATG	0.517																																																1	Substitution - Missense(1)	ovary(1)	12											70.0	77.0	75.0					12																	124332509		1940	4154	6094	122898462	SO:0001630	splice_region_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5461-1C>T	12.37:g.124332509C>T			122898462	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026280	0.93518	.	.	ENSG00000197653	ENST00000409039	T	0.10099	2.91	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000001	T	0.53981	0.1830	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73285	-0.4031	10	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1821	Q8IVF4	DYH10_HUMAN	V	1821	ENSP00000386770:A1821V	ENSP00000386770:A1821V	A	+	2	0	DNAH10	122898462	1.000000	0.71417	0.962000	0.40283	0.533000	0.34776	7.806000	0.86020	2.678000	0.91216	0.555000	0.69702	GCG		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	Missense_Mutation
UBC	7316	broad.mit.edu	37	12	125397696	125397696	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr12:125397696G>C	ENST00000536769.1	-	1	2198	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.L208V|UBC_ENST00000546120.1_Missense_Mutation_p.L132V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	208	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L208V(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TAGTCAGACAGGGTACGACCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	12											174.0	158.0	163.0					12																	125397696		2203	4296	6499	123963649	SO:0001583	missense	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.622C>G	12.37:g.125397696G>C	ENSP00000441543:p.Leu208Val		123963649	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	CCDS9260.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	-	11.95	1.791159	0.31685	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	2.42	2.42	0.29668	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.41294	U	0.000918	T	0.82213	0.4988	L	0.60455	1.87	0.47276	D	0.999377	B;B;B	0.29805	0.257;0.03;0.257	P;B;P	0.44990	0.466;0.075;0.466	D	0.83988	0.0336	10	0.87932	D	0	.	11.1259	0.48317	0.0:0.0:1.0:0.0	.	297;208;208	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	208;208;132;208;132;132	ENSP00000441543:L208V;ENSP00000344818:L208V;ENSP00000438394:L132V;ENSP00000440205:L132V	ENSP00000344818:L208V	L	-	1	2	UBC	123963649	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.827000	0.62723	1.696000	0.51158	0.543000	0.68304	CTG		0.488	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		Missense_Mutation
PARP4	143	broad.mit.edu	37	13	25021310	25021310	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr13:25021310C>T	ENST00000381989.3	-	26	3234	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1043	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M1043I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATAGCCTGGTCATTTGGTCTT	0.433																																																1	Substitution - Missense(1)	ovary(1)	13											52.0	52.0	52.0					13																	25021310		2203	4300	6503	23919310	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3129G>A	13.37:g.25021310C>T	ENSP00000371419:p.Met1043Ile		23919310	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762010	0.31228	.	.	ENSG00000102699	ENST00000381989	T	0.19806	2.12	4.71	3.83	0.44106	von Willebrand factor, type A (2);	0.176061	0.53938	N	0.000053	T	0.35189	0.0923	L	0.45137	1.4	0.31052	N	0.715111	D	0.53885	0.963	D	0.69824	0.966	T	0.22765	-1.0207	10	0.35671	T	0.21	-17.5504	12.602	0.56503	0.0:0.8313:0.1687:0.0	.	1043	Q9UKK3	PARP4_HUMAN	I	1043	ENSP00000371419:M1043I	ENSP00000371419:M1043I	M	-	3	0	PARP4	23919310	0.010000	0.17322	0.331000	0.25455	0.424000	0.31475	1.331000	0.33793	1.280000	0.44463	0.644000	0.83932	ATG		0.433	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		Missense_Mutation
NBEA	26960	broad.mit.edu	37	13	35622725	35622725	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr13:35622725A>C	ENST00000400445.3	+	5	1283	c.749A>C	c.(748-750)aAg>aCg	p.K250T	NBEA_ENST00000310336.4_Missense_Mutation_p.K250T|NBEA_ENST00000379939.2_Missense_Mutation_p.K250T|NBEA_ENST00000540320.1_Missense_Mutation_p.K250T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	250					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.K250T(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCTATTGCAAAGTGGCCTTAT	0.348																																																1	Substitution - Missense(1)	ovary(1)	13											78.0	72.0	74.0					13																	35622725		1859	4086	5945	34520725	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.749A>C	13.37:g.35622725A>C	ENSP00000383295:p.Lys250Thr		34520725	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553812	0.86231	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79147	-0.1923	10	0.49607	T	0.09	.	16.0815	0.81007	1.0:0.0:0.0:0.0	.	250	Q5T321	.	T	250	ENSP00000440951:K250T;ENSP00000383295:K250T;ENSP00000369271:K250T;ENSP00000308534:K250T	ENSP00000308534:K250T	K	+	2	0	NBEA	34520725	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.283000	0.95860	2.193000	0.70182	0.454000	0.30748	AAG		0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		Missense_Mutation
AKAP6	9472	broad.mit.edu	37	14	33291577	33291577	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr14:33291577C>A	ENST00000280979.4	+	13	4728	c.4558C>A	c.(4558-4560)Cca>Aca	p.P1520T	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1520					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.P1520T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAGTTACAACCAGATGTACC	0.388																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	ovary(1)	14											89.0	90.0	90.0					14																	33291577		2203	4299	6502	32361328	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4558C>A	14.37:g.33291577C>A	ENSP00000280979:p.Pro1520Thr		32361328	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016735	0.19355	.	.	ENSG00000151320	ENST00000280979	T	0.05580	3.42	5.79	2.94	0.34122	.	0.195979	0.44097	D	0.000482	T	0.08044	0.0201	M	0.67953	2.075	0.80722	D	1	B	0.17465	0.022	B	0.13407	0.009	T	0.10941	-1.0608	10	0.87932	D	0	-1.1908	5.6587	0.17656	0.1447:0.6419:0.1393:0.0742	.	1520	Q13023	AKAP6_HUMAN	T	1520	ENSP00000280979:P1520T	ENSP00000280979:P1520T	P	+	1	0	AKAP6	32361328	0.955000	0.32602	0.999000	0.59377	0.989000	0.77384	0.485000	0.22324	0.343000	0.23821	0.655000	0.94253	CCA		0.388	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		Missense_Mutation
GPHB5	122876	broad.mit.edu	37	14	63784523	63784523	+	RNA	SNP	A	A	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr14:63784523A>G	ENST00000539258.1	-	0	97							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.L14P(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGCCAGAAGGAGGAGGGCCAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	14											42.0	46.0	45.0					14																	63784523		2032	4172	6204	62854276			122876			AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784523A>G			62854276	Q6NTD0|Q8NFW2	Missense_Mutation	SNP	ENST00000539258.1	37		SNP	11	Broad																																																																																				0.577	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		Missense_Mutation
SPTB	6710	broad.mit.edu	37	14	65263340	65263340	+	Missense_Mutation	SNP	G	G	T	rs557868487		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr14:65263340G>T	ENST00000389721.5	-	10	1308	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	SPTB_ENST00000389722.3_Missense_Mutation_p.R426S|SPTB_ENST00000556626.1_Missense_Mutation_p.R426S|SPTB_ENST00000389720.3_Missense_Mutation_p.R426S|SPTB_ENST00000542895.1_Missense_Mutation_p.R426S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	426					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R426S(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGGTCAAAGCGCCGGGCCAGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	14											64.0	65.0	65.0					14																	65263340		2203	4300	6503	64333093	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1276C>A	14.37:g.65263340G>T	ENSP00000374371:p.Arg426Ser		64333093	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601132	0.87055	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.81	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.87328	2.875	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79024	-0.1972	10	0.87932	D	0	.	15.329	0.74190	0.0:0.0:0.8593:0.1407	.	426;430	P11277;Q59FP5	SPTB1_HUMAN;.	S	430;426;426;426;426;426	ENSP00000374372:R426S;ENSP00000451752:R426S;ENSP00000374371:R426S;ENSP00000443882:R426S;ENSP00000374370:R426S	ENSP00000374370:R426S	R	-	1	0	SPTB	64333093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.034000	0.57289	1.436000	0.47453	0.655000	0.94253	CGC		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			Missense_Mutation
MYO5C	55930	broad.mit.edu	37	15	52537584	52537584	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr15:52537584C>A	ENST00000261839.7	-	18	2306	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	715	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E715D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTGCACACCTCCTTTTTAT	0.483																																																1	Substitution - Missense(1)	ovary(1)	15											196.0	198.0	197.0					15																	52537584		1993	4167	6160	50324876	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2145G>T	15.37:g.52537584C>A	ENSP00000261839:p.Glu715Asp		50324876	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774208	0.31411	.	.	ENSG00000128833	ENST00000261839	D	0.95518	-3.73	4.79	1.91	0.25777	Myosin head, motor domain (2);	0.332574	0.31772	N	0.007086	D	0.86719	0.6000	N	0.12961	0.28	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.73799	-0.3869	10	0.13853	T	0.58	.	5.7295	0.18032	0.0:0.6295:0.1397:0.2308	.	715	Q9NQX4	MYO5C_HUMAN	D	715	ENSP00000261839:E715D	ENSP00000261839:E715D	E	-	3	2	MYO5C	50324876	0.998000	0.40836	0.997000	0.53966	0.732000	0.41865	1.251000	0.32862	0.244000	0.21351	0.555000	0.69702	GAG		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		Missense_Mutation
SCAPER	49855	broad.mit.edu	37	15	76668633	76668633	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr15:76668633C>G	ENST00000563290.1	-	29	3820	c.3725G>C	c.(3724-3726)gGc>gCc	p.G1242A	SCAPER_ENST00000324767.7_Missense_Mutation_p.G1242A|SCAPER_ENST00000538941.2_Missense_Mutation_p.G996A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1242						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G1242A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAGGGACAAGCCCTCTGCCCC	0.577																																																1	Substitution - Missense(1)	ovary(1)	15											54.0	56.0	55.0					15																	76668633		1984	4169	6153	74455688	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3725G>C	15.37:g.76668633C>G	ENSP00000454973:p.Gly1242Ala		74455688	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855046	0.91355	.	.	ENSG00000140386	ENST00000324767;ENST00000538941	T;T	0.27557	1.7;1.66	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63817	-0.6551	10	0.87932	D	0	.	20.1531	0.98091	0.0:1.0:0.0:0.0	.	996	F5H7X8	.	A	1242;996	ENSP00000326924:G1242A;ENSP00000442190:G996A	ENSP00000326924:G1242A	G	-	2	0	SCAPER	74455688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.429000	0.80309	2.767000	0.95098	0.655000	0.94253	GGC		0.577	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		Missense_Mutation
ADAMTSL3	57188	broad.mit.edu	37	15	84592772	84592772	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr15:84592772C>A	ENST00000286744.5	+	17	2328	c.2104C>A	c.(2104-2106)Ccc>Acc	p.P702T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P702T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	702						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P702T(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TAACACAGAGCCCTGTCCCCC	0.542																																																1	Substitution - Missense(1)	ovary(1)	15											105.0	73.0	84.0					15																	84592772		2203	4300	6503	82383776	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2104C>A	15.37:g.84592772C>A	ENSP00000286744:p.Pro702Thr		82383776	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929046	0.73327	.	.	ENSG00000156218	ENST00000286744	T	0.62498	0.02	5.25	5.25	0.73442	.	0.506617	0.20737	N	0.086613	T	0.81079	0.4748	M	0.84846	2.72	0.50813	D	0.999895	D;D	0.71674	0.998;0.985	D;P	0.76575	0.988;0.756	T	0.83178	-0.0090	10	0.56958	D	0.05	.	15.773	0.78187	0.0:1.0:0.0:0.0	.	702;702	P82987-2;P82987	.;ATL3_HUMAN	T	702	ENSP00000286744:P702T	ENSP00000286744:P702T	P	+	1	0	ADAMTSL3	82383776	0.984000	0.35163	0.995000	0.50966	0.992000	0.81027	2.599000	0.46231	2.451000	0.82905	0.637000	0.83480	CCC		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		Missense_Mutation
ROGDI	79641	broad.mit.edu	37	16	4851545	4851545	+	Silent	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr16:4851545C>T	ENST00000322048.7	-	3	537	c.159G>A	c.(157-159)gaG>gaA	p.E53E	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	53					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.E53E(1)		endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TGGCGGGCCCCTCAGTGCCGG	0.657																																																1	Substitution - coding silent(1)	ovary(1)	16											27.0	29.0	28.0					16																	4851545		2195	4299	6494	4791546	SO:0001819	synonymous_variant	79641			AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.159G>A	16.37:g.4851545C>T			4791546	Q6IA00	Silent	SNP	ENST00000322048.7	37	CCDS10523.1	SNP	24	Broad																																																																																				0.657	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589		Silent
NOMO1	23420	broad.mit.edu	37	16	14980653	14980653	+	Silent	SNP	A	A	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr16:14980653A>C	ENST00000287667.7	+	28	3429	c.3258A>C	c.(3256-3258)ccA>ccC	p.P1086P		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1086						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.P1086P(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TCGACAATCCAATCCAGACAG	0.478																																																1	Substitution - coding silent(1)	ovary(1)	16											55.0	56.0	56.0					16																	14980653		2195	4297	6492	14888154	SO:0001819	synonymous_variant	23420			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3258A>C	16.37:g.14980653A>C			14888154	P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	CCDS10556.1	SNP	5	Broad																																																																																				0.478	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			Silent
ANKRD11	29123	broad.mit.edu	37	16	89383355	89383355	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr16:89383355G>C	ENST00000301030.4	-	3	533	c.73C>G	c.(73-75)Cag>Gag	p.Q25E	ANKRD11_ENST00000563291.1_Missense_Mutation_p.Q25E|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.Q25E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	25					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q25E(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCAGTCTGCTTCTCCACC	0.612																																																1	Substitution - Missense(1)	ovary(1)	16											171.0	120.0	137.0					16																	89383355		2198	4300	6498	87910856	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.73C>G	16.37:g.89383355G>C	ENSP00000301030:p.Gln25Glu		87910856	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989005	0.74589	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.45668	0.89;0.89	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	L	0.43152	1.355	0.80722	D	1	D;P	0.58268	0.982;0.865	D;P	0.67548	0.952;0.759	T	0.52837	-0.8522	10	0.37606	T	0.19	.	18.048	0.89338	0.0:0.0:1.0:0.0	.	25;25	Q9UHR3;Q6UB99	.;ANR11_HUMAN	E	25;25;39	ENSP00000301030:Q25E;ENSP00000367581:Q25E	ENSP00000301030:Q25E	Q	-	1	0	ANKRD11	87910856	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	9.016000	0.93645	2.410000	0.81850	0.455000	0.32223	CAG		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	7518915	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
NF1	4763	broad.mit.edu	37	17	29664598	29664598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr17:29664598G>T	ENST00000358273.4	+	43	7023	c.6640G>T	c.(6640-6642)Gag>Tag	p.E2214*	NF1_ENST00000444181.2_5'Flank|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2193*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2214					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E2214*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGAGATCATGGAGGTATAGAA	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|ovary(1)|central_nervous_system(1)	17	GRCh37	CD001525	NF1	D							84.0	85.0	85.0					17																	29664598		2203	4300	6503	26688724	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6640G>T	17.37:g.29664598G>T	ENSP00000351015:p.Glu2214*		26688724	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	49	15.967799	0.99850	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.6482	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	X	2214;2193;1859	.	ENSP00000348498:E2193X	E	+	1	0	NF1	26688724	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.245000	0.95431	2.696000	0.92011	0.655000	0.94253	GAG		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		Nonsense_Mutation
RASL10B	91608	broad.mit.edu	37	17	34068234	34068235	+	Missense_Mutation	DNP	CA	CA	GC			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr17:34068234_34068235CA>GC	ENST00000268864.3	+	4	899_900	c.522_523CA>GC	c.(520-525)ctCAag>ctGCag	p.K175Q		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	175	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.K175Q(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGAGCTGCTCAAGAGCGTCGG	0.658																																																1	Substitution - Missense(1)	ovary(1)	17																																								31092348	SO:0001583	missense	91608			BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	Exception_encountered	17.37:g.34068234_34068235delinsGC	ENSP00000268864:p.Lys175Gln		31092347	B3KV31	Missense_Mutation	DNP	ENST00000268864.3	37	CCDS11297.1	DNP	29	Broad																																																																																				0.658	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		Missense_Mutation
THEG	51298	broad.mit.edu	37	19	362215	362215	+	Silent	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:362215G>A	ENST00000342640.4	-	8	1167	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	THEG_ENST00000346878.2_Silent_p.P351P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	375					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.P375P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCCAGGCCTGGGTTGATCAC	0.562																																																1	Substitution - coding silent(1)	ovary(1)	19											169.0	167.0	167.0					19																	362215		2203	4300	6503	313215	SO:0001819	synonymous_variant	51298			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1125C>T	19.37:g.362215G>A			313215	A6NMJ8	Silent	SNP	ENST00000342640.4	37	CCDS12025.1	SNP	47	Broad																																																																																				0.562	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			Silent
DENND1C	79958	broad.mit.edu	37	19	6467619	6467619	+	Missense_Mutation	SNP	G	G	A	rs141830432	byFrequency	TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:6467619G>A	ENST00000381480.2	-	23	2414	c.2302C>T	c.(2302-2304)Cca>Tca	p.P768S	DENND1C_ENST00000543576.1_Missense_Mutation_p.P724S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	768					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P768S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGGGCTCCTGGTTCCTCCCGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											30.0	33.0	32.0					19																	6467619		1907	4130	6037	6418619	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2302C>T	19.37:g.6467619G>A	ENSP00000370889:p.Pro768Ser		6418619	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742570	0.30865	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.08984	3.2;3.03	4.62	-0.538	0.11868	.	2.972360	0.01558	N	0.020014	T	0.04543	0.0124	N	0.24115	0.695	0.09310	N	1	B	0.29432	0.244	B	0.17098	0.017	T	0.26950	-1.0088	10	0.07644	T	0.81	0.8223	2.683	0.05100	0.1045:0.3524:0.3622:0.1808	.	768	Q8IV53	DEN1C_HUMAN	S	768;724	ENSP00000370889:P768S;ENSP00000437805:P724S	ENSP00000370889:P768S	P	-	1	0	DENND1C	6418619	0.001000	0.12720	0.001000	0.08648	0.179000	0.23085	0.407000	0.21049	0.424000	0.26061	0.306000	0.20318	CCA		0.622	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		Missense_Mutation
EMR3	84658	broad.mit.edu	37	19	14754967	14754967	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:14754967A>T	ENST00000253673.5	-	9	1103	c.1003T>A	c.(1003-1005)Tgc>Agc	p.C335S	EMR3_ENST00000344373.4_Missense_Mutation_p.C283S|EMR3_ENST00000443157.2_Missense_Mutation_p.C209S|EMR3_ENST00000599900.1_Missense_Mutation_p.C120S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	335	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.C335S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGTGACTGCAATTACACATG	0.507																																																1	Substitution - Missense(1)	ovary(1)	19											116.0	96.0	103.0					19																	14754967		2203	4300	6503	14615967	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1003T>A	19.37:g.14754967A>T	ENSP00000253673:p.Cys335Ser		14615967		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	a	11.34	1.610320	0.28712	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	D;D;D	0.90504	-2.68;-2.68;-2.68	3.3	-0.138	0.13464	GPS domain (3);	.	.	.	.	D	0.90031	0.6887	M	0.68952	2.095	0.09310	N	1	B;B;P	0.40000	0.09;0.011;0.698	B;B;P	0.48524	0.122;0.031;0.58	T	0.81378	-0.0960	9	0.54805	T	0.06	.	4.6611	0.12643	0.4242:0.388:0.0:0.1878	.	209;283;335	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	S	209;335;283	ENSP00000396208:C209S;ENSP00000253673:C335S;ENSP00000340758:C283S	ENSP00000253673:C335S	C	-	1	0	EMR3	14615967	0.683000	0.27633	0.000000	0.03702	0.001000	0.01503	3.974000	0.56852	-0.220000	0.09988	0.520000	0.50463	TGC		0.507	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		Missense_Mutation
LRFN1	57622	broad.mit.edu	37	19	39804672	39804672	+	Silent	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:39804672C>T	ENST00000248668.4	-	1	1304	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	435	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S387S(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCACGGAGTTCGAGGTGAGCT	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											27.0	34.0	31.0					19																	39804672		2060	4192	6252	44496512	SO:0001819	synonymous_variant	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1305G>A	19.37:g.39804672C>T			44496512	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1	SNP	31	Broad																																																																																				0.632	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		Silent
LYPD4	147719	broad.mit.edu	37	19	42341283	42341283	+	Silent	SNP	T	T	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:42341283T>G	ENST00000330743.3	-	5	1886	c.675A>C	c.(673-675)gcA>gcC	p.A225A	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.A190A|LYPD4_ENST00000601246.1_Silent_p.A190A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	225						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A225A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TGGAGGATGCTGCACCAACAA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	19											150.0	137.0	142.0					19																	42341283		2203	4300	6503	47033123	SO:0001819	synonymous_variant	147719			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.675A>C	19.37:g.42341283T>G			47033123	Q8IYW0	Silent	SNP	ENST00000330743.3	37	CCDS12587.1	SNP	55	Broad																																																																																				0.498	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		Silent
CD3EAP	10849	broad.mit.edu	37	19	45910426	45910426	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:45910426G>A	ENST00000309424.3	+	2	585	c.97G>A	c.(97-99)Gag>Aag	p.E33K	PPP1R13L_ENST00000360957.5_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E35K|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	33					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.E33K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TTTCTCCTTGGAGGCGCTGAC	0.592																																																1	Substitution - Missense(1)	ovary(1)	19											76.0	76.0	76.0					19																	45910426		2203	4300	6503	50602266	SO:0001583	missense	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.97G>A	19.37:g.45910426G>A	ENSP00000310966:p.Glu33Lys		50602266	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789677	0.90367	.	.	ENSG00000117877	ENST00000309424	T	0.15256	2.44	5.39	5.39	0.77823	.	0.260360	0.32106	N	0.006576	T	0.22322	0.0538	L	0.32530	0.975	0.37519	D	0.917456	P;P	0.50943	0.94;0.901	P;P	0.51135	0.66;0.458	T	0.02294	-1.1181	10	0.51188	T	0.08	-27.1184	14.6453	0.68756	0.0:0.0:1.0:0.0	.	35;33	O15446-2;O15446	.;RPA34_HUMAN	K	33	ENSP00000310966:E33K	ENSP00000310966:E33K	E	+	1	0	CD3EAP	50602266	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	4.211000	0.58507	2.517000	0.84864	0.561000	0.74099	GAG		0.592	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		Missense_Mutation
GPR4	2828	broad.mit.edu	37	19	46094179	46094179	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:46094179T>C	ENST00000323040.4	-	2	1890	c.946A>G	c.(946-948)Atg>Gtg	p.M316V	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	316					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)	p.M316V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCATTGGCCATCTCCTGGGGC	0.657																																					Esophageal Squamous(117;181 1612 1673 14956 42937)											1	Substitution - Missense(1)	ovary(1)	19											84.0	78.0	80.0					19																	46094179		2203	4300	6503	50786019	SO:0001583	missense	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.946A>G	19.37:g.46094179T>C	ENSP00000319744:p.Met316Val		50786019	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	SNP	50	Broad	.	.	.	.	.	.	.	.	.	.	T	9.919	1.211753	0.22289	.	.	ENSG00000177464	ENST00000323040	T	0.60548	0.18	4.53	4.53	0.55603	.	0.083842	0.51477	D	0.000100	T	0.34308	0.0893	N	0.08118	0	0.28454	N	0.91621	B	0.11235	0.004	B	0.06405	0.002	T	0.16541	-1.0399	10	0.28530	T	0.3	.	10.1691	0.42900	0.0:0.0:0.0:1.0	.	316	P46093	GPR4_HUMAN	V	316	ENSP00000319744:M316V	ENSP00000319744:M316V	M	-	1	0	GPR4	50786019	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.647000	0.54403	1.908000	0.55244	0.374000	0.22700	ATG		0.657	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		Missense_Mutation
DHX34	9704	broad.mit.edu	37	19	47870294	47870294	+	Silent	SNP	A	A	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:47870294A>C	ENST00000328771.4	+	7	1999	c.1650A>C	c.(1648-1650)ccA>ccC	p.P550P	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	550					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.P550P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCCCCCACCACCAGCCAGCC	0.617																																																1	Substitution - coding silent(1)	ovary(1)	19																																								52562129	SO:0001819	synonymous_variant	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1650A>C	19.37:g.47870294A>C			52562129	B4DMY8	Silent	SNP	ENST00000328771.4	37	CCDS12700.1	SNP	6	Broad																																																																																				0.617	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		Silent
LILRB3	11025	broad.mit.edu	37	19	54724540	54724540	+	Silent	SNP	G	G	A	rs371484692		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:54724540G>A	ENST00000391750.1	-	7	1252	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Silent_p.Y372Y|LILRA6_ENST00000270464.5_Silent_p.Y372Y|LILRA6_ENST00000440558.2_Silent_p.Y372Y|LILRB3_ENST00000407860.2_Silent_p.Y372Y|LILRB3_ENST00000424807.1_Silent_p.Y372Y|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000245620.9_Silent_p.Y372Y|LILRA6_ENST00000391735.3_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	372	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y372Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TATGAGCTCCGTACATTGATC	0.567													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19665	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	19						G	,	1,4397		0,1,2198	72.0	53.0	60.0		1116,1116	2.7	0.0	19		60	0,8380		0,0,4190	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	0,1,6388	AA,AG,GG		0.0,0.0227,0.0078	,	372/633,372/632	54724540	1,12777	2199	4190	6389	59416352	SO:0001819	synonymous_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1116C>T	19.37:g.54724540G>A			59416352	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1	SNP	40	Broad																																																																																				0.567	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		Silent
LILRB1	10859	broad.mit.edu	37	19	55144601	55144601	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:55144601G>A	ENST00000396331.1	+	8	1450	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	LILRB1_ENST00000418536.2_Missense_Mutation_p.D365N|LILRB1_ENST00000448689.1_Missense_Mutation_p.D365N|LILRB1_ENST00000396332.4_Missense_Mutation_p.D365N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D365N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D365N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D365N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D401N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D365N|LILRB1_ENST00000396317.1_Missense_Mutation_p.D365N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D365N|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	365	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.D365N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCAGCTGATGACCCATGGCG	0.572										HNSCC(37;0.09)																																						1	Substitution - Missense(1)	ovary(1)	19											107.0	116.0	113.0					19																	55144601		2203	4300	6503	59836413	SO:0001583	missense	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1093G>A	19.37:g.55144601G>A	ENSP00000379622:p.Asp365Asn		59836413	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	7.933	0.741200	0.15642	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02837	4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14;4.14	1.52	-3.05	0.05396	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.354250	0.01857	N	0.036378	T	0.02688	0.0081	L	0.28192	0.835	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.001;0.004;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.001;0.004;0.003;0.002	T	0.45352	-0.9267	10	0.62326	D	0.03	.	4.5223	0.11964	0.2218:0.3166:0.4616:0.0	.	365;365;365;365;365	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	N	365;365;365;365;365;365;365;365;401;365;365	ENSP00000379614:D365N;ENSP00000391514:D365N;ENSP00000409968:D365N;ENSP00000379622:D365N;ENSP00000379618:D365N;ENSP00000315997:D365N;ENSP00000405243:D365N;ENSP00000379623:D365N;ENSP00000395004:D401N;ENSP00000379610:D365N;ENSP00000379608:D365N	ENSP00000315997:D365N	D	+	1	0	LILRB1	59836413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.812000	0.01726	-1.009000	0.03400	0.205000	0.17691	GAC		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			Missense_Mutation
ISOC2	79763	broad.mit.edu	37	19	55966409	55966409	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr19:55966409C>T	ENST00000425675.2	-	5	544	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ISOC2_ENST00000085068.3_Missense_Mutation_p.E178K|ISOC2_ENST00000438389.2_Missense_Mutation_p.E92K			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	162					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E178K(1)		endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		ATGAGCCCTTCGCTGGTGGAG	0.647											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	19											46.0	44.0	44.0					19																	55966409		2203	4300	6503	60658221	SO:0001583	missense	79763			AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.484G>A	19.37:g.55966409C>T	ENSP00000401726:p.Glu162Lys	1011	60658221	Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	CCDS46195.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314927	0.81358	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.03	4.03	0.46877	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	H	0.95004	3.61	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.997	D;P;P	0.64237	0.923;0.891;0.778	D	0.89396	0.3692	9	0.87932	D	0	-16.8549	14.0504	0.64732	0.0:1.0:0.0:0.0	.	92;162;178	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	K	178;162;92	.	ENSP00000085068:E178K	E	-	1	0	ISOC2	60658221	1.000000	0.71417	0.350000	0.25708	0.595000	0.36748	6.657000	0.74402	1.981000	0.57761	0.491000	0.48974	GAA		0.647	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		Missense_Mutation
SLC35F6	54978	broad.mit.edu	37	2	27001033	27001033	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:27001033G>T	ENST00000344420.5	+	6	832	c.770G>T	c.(769-771)gGc>gTc	p.G257V	SLC35F6_ENST00000482746.1_3'UTR|SLC35F6_ENST00000416475.2_Missense_Mutation_p.G174V|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	257					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)		p.G257V(1)									TGCCAGGTGGGCCAGCAGCCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											85.0	72.0	77.0					2																	27001033		2203	4300	6503	26854537	SO:0001583	missense	54978			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.770G>T	2.37:g.27001033G>T	ENSP00000345528:p.Gly257Val		26854537	D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	CCDS1728.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403813	0.62288	.	.	ENSG00000213699	ENST00000344420;ENST00000416475	.	.	.	5.51	5.51	0.81932	.	0.140571	0.64402	D	0.000004	T	0.60327	0.2260	L	0.48642	1.525	0.80722	D	1	D;P;P	0.52996	0.957;0.745;0.846	P;B;B	0.50754	0.649;0.215;0.393	T	0.53592	-0.8417	9	0.17369	T	0.5	-16.0871	17.9791	0.89136	0.0:0.0:1.0:0.0	.	110;174;257	E7ET27;B4DLH2;Q8N357	.;.;CB018_HUMAN	V	257;174	.	ENSP00000345528:G257V	G	+	2	0	C2orf18	26854537	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	5.901000	0.69861	2.595000	0.87683	0.561000	0.74099	GGC		0.617	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877		Missense_Mutation
NPAS2	4862	broad.mit.edu	37	2	101564740	101564740	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:101564740A>G	ENST00000335681.5	+	6	692	c.407A>G	c.(406-408)cAa>cGa	p.Q136R	NPAS2_ENST00000542504.1_Missense_Mutation_p.Q201R|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	136	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q136R(2)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCCAGAACAAGAACATTCA	0.358																																																2	Substitution - Missense(2)	ovary(2)	2											113.0	110.0	111.0					2																	101564740		2203	4300	6503	100931172	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.407A>G	2.37:g.101564740A>G	ENSP00000338283:p.Gln136Arg		100931172	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	CCDS2048.1	SNP	5	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.26|13.26	2.184786|2.184786	0.38609|0.38609	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000427413|ENST00000335681;ENST00000542504	.|T;T	.|0.16324	.|2.35;2.35	4.97|4.97	4.97|4.97	0.65823|0.65823	.|PAS (3);PAS fold (1);	.|0.060448	.|0.64402	.|D	.|0.000002	T|T	0.08179|0.08179	0.0204|0.0204	N|N	0.03238|0.03238	-0.38|-0.38	0.45490|0.45490	D|D	0.99845|0.99845	.|B;B	.|0.23442	.|0.069;0.085	.|B;B	.|0.24155	.|0.051;0.03	T|T	0.29427|0.29427	-1.0012|-1.0012	5|10	.|0.13108	.|T	.|0.6	.|.	14.8137|14.8137	0.70013|0.70013	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|201;136	.|F5H027;Q99743	.|.;NPAS2_HUMAN	E|R	202|136;201	.|ENSP00000338283:Q136R;ENSP00000438428:Q201R	.|ENSP00000338283:Q136R	K|Q	+|+	1|2	0|0	NPAS2|NPAS2	100931172|100931172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.293000|6.293000	0.72731|0.72731	2.077000|2.077000	0.62373|0.62373	0.528000|0.528000	0.53228|0.53228	AAG|CAA		0.358	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			Missense_Mutation
IL1RL2	8808	broad.mit.edu	37	2	102851677	102851677	+	Missense_Mutation	SNP	A	A	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:102851677A>T	ENST00000264257.2	+	11	1744	c.1618A>T	c.(1618-1620)Agg>Tgg	p.R540W	IL1RL2_ENST00000539491.1_Missense_Mutation_p.R540W|IL1RL2_ENST00000441515.2_Missense_Mutation_p.R422W|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	540					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.R540W(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCCGCCCAGAAGGTGTCGGCC	0.587											OREG0014848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											78.0	71.0	74.0					2																	102851677		2203	4300	6503	102218109	SO:0001583	missense	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1618A>T	2.37:g.102851677A>T	ENSP00000264257:p.Arg540Trp	1369	102218109	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	CCDS2056.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571086	0.65765	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.04083	3.93;3.71;3.93	4.92	0.596	0.17496	.	0.788457	0.11976	N	0.511249	T	0.10035	0.0246	N	0.19112	0.55	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.35674	-0.9779	10	0.87932	D	0	.	11.1586	0.48501	0.5508:0.4491:0.0:0.0	.	422;540	A4FU63;Q9HB29	.;ILRL2_HUMAN	W	540;422;540	ENSP00000264257:R540W;ENSP00000413348:R422W;ENSP00000442184:R540W	ENSP00000264257:R540W	R	+	1	2	IL1RL2	102218109	0.001000	0.12720	0.012000	0.15200	0.024000	0.10985	0.548000	0.23314	0.261000	0.21753	0.482000	0.46254	AGG		0.587	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		Missense_Mutation
COL3A1	1281	broad.mit.edu	37	2	189854859	189854859	+	Missense_Mutation	SNP	G	G	A	rs587779629		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:189854859G>A	ENST00000304636.3	+	9	898	c.728G>A	c.(727-729)gGa>gAa	p.G243E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G243E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	243	Triple-helical region.		G -> V (in EDS4).		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G243E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGAGAGCGAGGATTGCCTGGA	0.368																																																1	Substitution - Missense(1)	ovary(1)	2	GRCh37	CM000319	COL3A1	M							66.0	69.0	68.0					2																	189854859		2203	4300	6503	189563104	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.728G>A	2.37:g.189854859G>A	ENSP00000304408:p.Gly243Glu		189563104	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670361	0.67814	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.52	5.68	5.68	0.88126	.	0.000000	0.50627	D	0.000115	D	0.99725	0.9893	H	0.99719	4.725	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.97225	0.9880	10	0.87932	D	0	.	13.3815	0.60770	0.0722:0.0:0.9278:0.0	.	243	P02461	CO3A1_HUMAN	E	243	ENSP00000304408:G243E;ENSP00000315243:G243E	ENSP00000304408:G243E	G	+	2	0	COL3A1	189563104	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.329000	0.79170	2.838000	0.97847	0.591000	0.81541	GGA		0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		Missense_Mutation
PLCL1	5334	broad.mit.edu	37	2	198950032	198950032	+	Silent	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:198950032C>T	ENST00000428675.1	+	2	2189	c.1791C>T	c.(1789-1791)taC>taT	p.Y597Y	PLCL1_ENST00000437704.2_Silent_p.Y499Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	597	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y499Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTTCAATACAGGGATTTTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											68.0	71.0	70.0					2																	198950032		2203	4300	6503	198658277	SO:0001819	synonymous_variant	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1791C>T	2.37:g.198950032C>T			198658277	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2	SNP	17	Broad																																																																																				0.413	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		Silent
SPATS2L	26010	broad.mit.edu	37	2	201342609	201342609	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:201342609G>C	ENST00000358677.5	+	13	1779	c.1532G>C	c.(1531-1533)aGg>aCg	p.R511T	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000360760.5_Missense_Mutation_p.R442T|SPATS2L_ENST00000409140.3_Missense_Mutation_p.R511T|SPATS2L_ENST00000409151.1_Missense_Mutation_p.R519T|SPATS2L_ENST00000409385.1_Missense_Mutation_p.R451T|SPATS2L_ENST00000451764.2_Missense_Mutation_p.R511T|SPATS2L_ENST00000409755.3_Missense_Mutation_p.R541T|SPATS2L_ENST00000409988.3_Missense_Mutation_p.R511T|SPATS2L_ENST00000409718.1_Missense_Mutation_p.R511T	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	511						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.R511T(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCCCGGCGAAGGCAGCACGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	2											15.0	17.0	16.0					2																	201342609		1896	4126	6022	201050854	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1532G>C	2.37:g.201342609G>C	ENSP00000351503:p.Arg511Thr		201050854	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	CCDS46483.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986498	0.35036	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.65	4.7	0.59300	.	0.089152	0.46442	D	0.000287	T	0.21103	0.0508	N	0.14661	0.345	0.37857	D	0.929585	P;P;P	0.46142	0.501;0.873;0.799	B;B;B	0.39379	0.054;0.298;0.272	T	0.02339	-1.1174	9	0.27082	T	0.32	-15.3738	5.7917	0.18363	0.1715:0.0:0.8285:0.0	.	541;442;511	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	T	511;511;511;451;511;442;511;541;519	.	ENSP00000351503:R511T	R	+	2	0	SPATS2L	201050854	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	3.143000	0.50608	2.941000	0.99782	0.655000	0.94253	AGG		0.597	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		Missense_Mutation
MAP2	4133	broad.mit.edu	37	2	210570348	210570348	+	Silent	SNP	A	A	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr2:210570348A>G	ENST00000360351.4	+	11	5135	c.4629A>G	c.(4627-4629)agA>agG	p.R1543R	MAP2_ENST00000199940.6_Silent_p.R244R|MAP2_ENST00000361559.4_Silent_p.R187R|MAP2_ENST00000447185.1_Silent_p.R1539R|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Silent_p.R187R	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1543					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R1543R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTCTCCCAAGACCTTCCTCCA	0.468																																					Pancreas(27;423 979 28787 29963)											1	Substitution - coding silent(1)	ovary(1)	2											121.0	123.0	123.0					2																	210570348		2203	4300	6503	210278593	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4629A>G	2.37:g.210570348A>G			210278593	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1	SNP	10	Broad																																																																																				0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		Silent
SRXN1	140809	broad.mit.edu	37	20	633635	633635	+	Silent	SNP	G	G	C	rs373618818		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr20:633635G>C	ENST00000381962.3	-	1	379	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RP5-850E9.3_ENST00000488788.2_Intron	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	65					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)	p.L65L(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						TCGTGTCCACGAGGCTCTGCA	0.706																																																1	Substitution - coding silent(1)	ovary(1)	20											12.0	12.0	12.0					20																	633635		2181	4266	6447	581635	SO:0001819	synonymous_variant	140809			AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.195C>G	20.37:g.633635G>C			581635	B2R543|Q8NDM3|Q96AK6	Silent	SNP	ENST00000381962.3	37	CCDS13005.1	SNP	37	Broad																																																																																				0.706	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		Silent
PCED1A	64773	broad.mit.edu	37	20	2819340	2819340	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr20:2819340C>T	ENST00000360652.2	-	5	998	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.V115M|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	166								p.V166L(1)|p.V166M(1)									TCCATGCGCACAAACACCCGC	0.587																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	20											185.0	161.0	169.0					20																	2819340		2203	4300	6503	2767340	SO:0001583	missense	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.496G>A	20.37:g.2819340C>T	ENSP00000353868:p.Val166Met		2767340	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	CCDS13035.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370167	0.42003	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	3.89	1.71	0.24356	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.574287	0.16686	N	0.203751	T	0.05868	0.0153	N	0.02011	-0.69	0.09310	N	0.999999	B;B	0.13594	0.008;0.003	B;B	0.17979	0.018;0.02	T	0.33240	-0.9876	10	0.42905	T	0.14	-1.9224	6.0824	0.19948	0.0:0.7322:0.0:0.2678	.	115;166	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	M	115;166;115;166	ENSP00000349334:V115M;ENSP00000353868:V166M;ENSP00000388935:V115M;ENSP00000401711:V166M	ENSP00000349334:V115M	V	-	1	0	FAM113A	2767340	0.000000	0.05858	0.919000	0.36401	0.910000	0.53928	-0.106000	0.10890	0.338000	0.23692	0.462000	0.41574	GTG		0.587	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		Missense_Mutation
CDH22	64405	broad.mit.edu	37	20	44815302	44815302	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr20:44815302C>A	ENST00000372262.3	-	9	1988	c.1588G>T	c.(1588-1590)Ggc>Tgc	p.G530C	CDH22_ENST00000537909.1_Missense_Mutation_p.G530C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G530C(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGCCCGCCTTGGGGCTCG	0.587																																																1	Substitution - Missense(1)	ovary(1)	20											72.0	68.0	70.0					20																	44815302		2203	4300	6503	44248709	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1588G>T	20.37:g.44815302C>A	ENSP00000361336:p.Gly530Cys		44248709	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980013	0.53827	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52754	0.65;0.65	4.38	2.27	0.28462	Cadherin (4);Cadherin-like (1);	0.243205	0.35525	N	0.003157	T	0.50650	0.1628	L	0.59436	1.845	0.09310	N	1	D	0.56968	0.978	P	0.54372	0.75	T	0.39901	-0.9591	10	0.72032	D	0.01	.	5.8691	0.18793	0.1549:0.6669:0.0:0.1783	.	530	Q9UJ99	CAD22_HUMAN	C	530	ENSP00000361336:G530C;ENSP00000437790:G530C	ENSP00000361336:G530C	G	-	1	0	CDH22	44248709	0.000000	0.05858	0.998000	0.56505	0.977000	0.68977	-0.564000	0.05936	0.844000	0.35094	0.442000	0.29010	GGC		0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		Missense_Mutation
CLTCL1	8218	broad.mit.edu	37	22	19196458	19196458	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr22:19196458T>A	ENST00000263200.10	-	21	3488	c.3416A>T	c.(3415-3417)gAa>gTa	p.E1139V	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1139V|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1139V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1139	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.E1139V(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTGAACAACTTCCAGGTAAGA	0.532			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	1	Substitution - Missense(1)	ovary(1)	22											60.0	61.0	61.0					22																	19196458		1984	4154	6138	17576458	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3416A>T	22.37:g.19196458T>A	ENSP00000445677:p.Glu1139Val		17576458	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726201	0.69074	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21191	2.02;2.02;2.02	3.85	2.79	0.32731	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.065700	0.64402	D	0.000014	T	0.45074	0.1324	M	0.89715	3.055	0.58432	D	0.999999	B;P	0.40794	0.166;0.729	B;P	0.53490	0.422;0.727	T	0.46582	-0.9181	10	0.72032	D	0.01	-4.647	10.1833	0.42982	0.0:0.0:0.168:0.832	.	1139;1139	P53675-2;P53675	.;CLH2_HUMAN	V	1139	ENSP00000439662:E1139V;ENSP00000445677:E1139V;ENSP00000441158:E1139V	ENSP00000445677:E1139V	E	-	2	0	CLTCL1	17576458	1.000000	0.71417	0.483000	0.27378	0.925000	0.55904	5.349000	0.66010	0.505000	0.28104	0.533000	0.62120	GAA		0.532	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		Missense_Mutation
TYMP	1890	broad.mit.edu	37	22	50966138	50966138	+	Silent	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr22:50966138C>T	ENST00000252029.3	-	5	687	c.525G>A	c.(523-525)gtG>gtA	p.V175V	CTA-384D8.36_ENST00000608319.1_RNA|TYMP_ENST00000395680.1_Silent_p.V175V|SCO2_ENST00000535425.1_5'Flank|SCO2_ENST00000543927.1_5'Flank|SCO2_ENST00000252785.3_5'Flank|TYMP_ENST00000395681.1_Silent_p.V175V|TYMP_ENST00000395678.3_Silent_p.V175V|SCO2_ENST00000395693.3_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	175					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)	p.V175V(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	GGTCCAGCAGCACTTGCATCT	0.488																																																1	Substitution - coding silent(1)	ovary(1)	22											76.0	75.0	76.0					22																	50966138		2203	4300	6503	49313004	SO:0001819	synonymous_variant	1890			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.525G>A	22.37:g.50966138C>T			49313004	A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	CCDS14096.1	SNP	25	Broad																																																																																				0.488	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		Silent
PLCL2	23228	broad.mit.edu	37	3	17051283	17051283	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr3:17051283C>A	ENST00000418129.2	+	2	532	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	PLCL2_ENST00000396755.2_Missense_Mutation_p.L23I|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.L23I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	149	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L23I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGGTTCAGAACTCAAAAAGGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											69.0	68.0	68.0					3																	17051283		2203	4300	6503	17026287	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.67C>A	3.37:g.17051283C>A	ENSP00000409637:p.Leu23Ile		17026287	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370210	0.61624	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.66638	-0.22;-0.22;-0.22	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.057996	0.64402	D	0.000001	T	0.79221	0.4409	.	.	.	0.48632	D	0.999683	D;D	0.56968	0.978;0.964	P;P	0.62649	0.905;0.841	T	0.80741	-0.1247	9	0.66056	D	0.02	.	13.1287	0.59369	0.0:0.9268:0.0:0.0732	.	149;23	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	I	23;150;23;23	ENSP00000409637:L23I;ENSP00000379979:L23I;ENSP00000412836:L23I	ENSP00000285094:L150I	L	+	1	0	PLCL2	17026287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.947000	0.63583	2.709000	0.92574	0.491000	0.48974	CTC		0.428	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			Missense_Mutation
ENTPD3	956	broad.mit.edu	37	3	40457427	40457427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr3:40457427G>T	ENST00000301825.3	+	7	812	c.694G>T	c.(694-696)Gga>Tga	p.G232*	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.G232*|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.G232*|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	232					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.G232*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CTTCGTGGCAGGAGAGAAGAT	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	3											98.0	82.0	87.0					3																	40457427		2203	4300	6503	40432431	SO:0001587	stop_gained	956			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.694G>T	3.37:g.40457427G>T	ENSP00000301825:p.Gly232*		40432431	B2R8D0|G5E9N0|O60495|Q8N6K2	Nonsense_Mutation	SNP	ENST00000301825.3	37	CCDS2691.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807123	0.90623	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	.	.	.	5.38	4.46	0.54185	.	0.716014	0.14346	N	0.325426	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.0498	12.7192	0.57131	0.0:0.166:0.834:0.0	.	.	.	.	X	232	.	ENSP00000301825:G232X	G	+	1	0	ENTPD3	40432431	0.850000	0.29656	0.006000	0.13384	0.948000	0.59901	2.843000	0.48238	2.680000	0.91292	0.655000	0.94253	GGA		0.557	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		Nonsense_Mutation
RNF123	63891	broad.mit.edu	37	3	49751566	49751566	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr3:49751566T>A	ENST00000327697.6	+	31	3113	c.2969T>A	c.(2968-2970)cTg>cAg	p.L990Q	RNF123_ENST00000433785.1_Missense_Mutation_p.L102Q	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	990					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L990Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCACATCTGCTGAAAACCAAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	3											93.0	94.0	94.0					3																	49751566		2203	4300	6503	49726570	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2969T>A	3.37:g.49751566T>A	ENSP00000328287:p.Leu990Gln		49726570	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622301	0.87460	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.63255	-0.03;-0.03	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.73830	0.3637	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.71009	-0.4716	10	0.30854	T	0.27	-16.0386	15.5459	0.76101	0.0:0.0:0.0:1.0	.	990	Q5XPI4	RN123_HUMAN	Q	990;990;102	ENSP00000328287:L990Q;ENSP00000416156:L102Q	ENSP00000328287:L990Q	L	+	2	0	RNF123	49726570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.488000	0.81441	2.263000	0.75096	0.533000	0.62120	CTG		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		Missense_Mutation
MAATS1	89876	broad.mit.edu	37	3	119466107	119466107	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr3:119466107G>A	ENST00000273390.5	+	15	2125	c.2048G>A	c.(2047-2049)aGc>aAc	p.S683N	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	519						mitochondrion (GO:0005739)		p.S683N(1)									GAAATGGAAAGCCGGTGTGTA	0.383																																																1	Substitution - Missense(1)	ovary(1)	3											80.0	71.0	74.0					3																	119466107		2203	4300	6503	120948797	SO:0001583	missense	89876			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.2048G>A	3.37:g.119466107G>A	ENSP00000273390:p.Ser683Asn		120948797	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934432	0.18206	.	.	ENSG00000183833	ENST00000273390	T	0.23348	1.91	5.68	-4.77	0.03219	.	0.626077	0.17560	N	0.169849	T	0.10723	0.0262	N	0.16066	0.365	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.004	T	0.26573	-1.0099	10	0.20519	T	0.43	-10.987	9.2642	0.37630	0.5437:0.1738:0.2825:0.0	.	519;621;683	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	N	683	ENSP00000273390:S683N	ENSP00000273390:S683N	S	+	2	0	C3orf15	120948797	0.000000	0.05858	0.291000	0.24904	0.916000	0.54674	-0.610000	0.05629	-0.818000	0.04329	-0.218000	0.12543	AGC		0.383	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		Missense_Mutation
EPHB1	2047	broad.mit.edu	37	3	134920468	134920468	+	Silent	SNP	C	C	T	rs555858727		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr3:134920468C>T	ENST00000398015.3	+	12	2653	c.2283C>T	c.(2281-2283)tcC>tcT	p.S761S	EPHB1_ENST00000493838.1_Silent_p.S322S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.S761S(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCAAGGTGTCCGACTTTGGCC	0.537													c|||	1	0.000199681	0.0	0.0	5008	,	,		21167	0.001		0.0	False		,,,				2504	0.0															4	Substitution - coding silent(4)	ovary(2)|endometrium(2)	3											139.0	142.0	141.0					3																	134920468		2199	4298	6497	136403158	SO:0001819	synonymous_variant	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2283C>T	3.37:g.134920468C>T			136403158	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1	SNP	23	Broad																																																																																				0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		Silent
PLOD2	5352	broad.mit.edu	37	3	145841965	145841965	+	Missense_Mutation	SNP	C	C	T	rs148641011		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr3:145841965C>T	ENST00000360060.3	-	2	338	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	PLOD2_ENST00000494950.1_5'UTR|PLOD2_ENST00000282903.5_Missense_Mutation_p.R54Q	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	54					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R54Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTGCATAAATCGATGGAATCC	0.318																																																2	Substitution - Missense(2)	ovary(1)|skin(1)	3						C	GLN/ARG,GLN/ARG	0,4404		0,0,2202	153.0	150.0	151.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	161,161	4.9	1.0	3	dbSNP_134	151	3,8593	3.0+/-9.4	0,3,4295	no	missense,missense	PLOD2	NM_000935.2,NM_182943.2	43,43	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	54/738,54/759	145841965	3,12997	2202	4298	6500	147324655	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.161G>A	3.37:g.145841965C>T	ENSP00000353170:p.Arg54Gln		147324655	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	34	5.383930	0.95967	0.0	3.49E-4	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000469350	T;T;T	0.36699	1.24;1.24;1.24	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.77004	0.862;0.989	T	0.77983	-0.2382	10	0.87932	D	0	-29.407	17.5893	0.87991	0.0:1.0:0.0:0.0	.	54;54	O00469;O00469-2	PLOD2_HUMAN;.	Q	54;54;26	ENSP00000282903:R54Q;ENSP00000353170:R54Q;ENSP00000419963:R26Q	ENSP00000282903:R54Q	R	-	2	0	PLOD2	147324655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.678000	0.74508	2.241000	0.73720	0.471000	0.43371	CGA		0.318	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		Missense_Mutation
LRRC66	339977	broad.mit.edu	37	4	52860770	52860770	+	Silent	SNP	G	G	C	rs149465543	byFrequency	TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:52860770G>C	ENST00000343457.3	-	4	2424	c.2418C>G	c.(2416-2418)ccC>ccG	p.P806P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	806						integral component of membrane (GO:0016021)		p.P806P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGTGACCTGGGCCAGGGTG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	4											50.0	53.0	52.0					4																	52860770		1881	4104	5985	52555527	SO:0001819	synonymous_variant	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2418C>G	4.37:g.52860770G>C			52555527		Silent	SNP	ENST00000343457.3	37	CCDS43229.1	SNP	47	Broad																																																																																				0.488	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		Silent
ODAM	54959	broad.mit.edu	37	4	71062430	71062430	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:71062430T>A	ENST00000396094.2	+	2	121	c.73T>A	c.(73-75)Tct>Act	p.S25T		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	25					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.S25T(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GCGTCTCATGTCTGCCAGCAA	0.328																																																1	Substitution - Missense(1)	ovary(1)	4											65.0	59.0	61.0					4																	71062430		1822	4083	5905	71097019	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.73T>A	4.37:g.71062430T>A	ENSP00000379401:p.Ser25Thr		71097019	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	SNP	58	Broad	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657150	0.47467	.	.	ENSG00000109205	ENST00000396094	T	0.62788	-0.0	5.39	5.39	0.77823	.	.	.	.	.	T	0.72700	0.3493	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.64237	0.923	T	0.75508	-0.3293	9	0.87932	D	0	-16.5195	11.7139	0.51641	0.0:0.0:0.0:1.0	.	25	A1E959	ODAM_HUMAN	T	25	ENSP00000379401:S25T	ENSP00000379401:S25T	S	+	1	0	ODAM	71097019	1.000000	0.71417	0.989000	0.46669	0.019000	0.09904	3.432000	0.52824	2.263000	0.75096	0.528000	0.53228	TCT		0.328	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		Missense_Mutation
FRAS1	80144	broad.mit.edu	37	4	79418058	79418059	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:79418058_79418059GG>TT	ENST00000264895.6	+	60	9498_9499	c.9058_9059GG>TT	c.(9058-9060)GGa>TTa	p.G3020L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3016					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G3020L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACTGGAGTGGAGCTAGAATT	0.45																																																1	Substitution - Missense(1)	ovary(1)	4																																								79637083	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	Exception_encountered	4.37:g.79418058_79418059delinsTT	ENSP00000264895:p.Gly3020Leu		79637082	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	DNP	ENST00000264895.6	37	CCDS54771.1	DNP	47	Broad																																																																																				0.450	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Missense_Mutation
HNRNPDL	9987	broad.mit.edu	37	4	83349269	83349269	+	Missense_Mutation	SNP	A	A	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:83349269A>C	ENST00000295470.5	-	3	851	c.676T>G	c.(676-678)Tta>Gta	p.L226V	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.L107V|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.L107V|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.L226V|HNRNPDL_ENST00000514511.1_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	226	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)	p.L226V(1)									TTCCCTTTTAAAGCTTTGGCC	0.388																																																1	Substitution - Missense(1)	ovary(1)	4											93.0	97.0	96.0					4																	83349269		2203	4300	6503	83568293	SO:0001583	missense	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.676T>G	4.37:g.83349269A>C	ENSP00000295470:p.Leu226Val		83568293	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	CCDS3593.1	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	a	15.34	2.805539	0.50315	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	D;D;D	0.85556	-2.0;-2.0;-2.0	6.17	3.79	0.43588	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.078305	0.49916	D	0.000133	T	0.73481	0.3592	L	0.27053	0.805	0.40613	D	0.981695	B;B	0.24675	0.109;0.057	B;B	0.27715	0.036;0.082	T	0.66960	-0.5791	10	0.35671	T	0.21	.	5.5818	0.17254	0.6577:0.0:0.3423:0.0	.	107;226	O14979-3;O14979	.;HNRDL_HUMAN	V	226;226;107	ENSP00000295470:L226V;ENSP00000422040:L226V;ENSP00000338552:L107V	ENSP00000295470:L226V	L	-	1	2	HNRPDL	83568293	0.846000	0.29590	1.000000	0.80357	0.998000	0.95712	1.331000	0.33793	1.151000	0.42436	0.533000	0.62120	TTA		0.388	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		Missense_Mutation
TACR3	6870	broad.mit.edu	37	4	104510899	104510899	+	Silent	SNP	A	A	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:104510899A>T	ENST00000304883.2	-	5	1478	c.1338T>A	c.(1336-1338)tcT>tcA	p.S446S	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	446					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.S446S(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGCGGAGGCAGATTTGGAAT	0.463																																																2	Substitution - coding silent(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	4											139.0	134.0	136.0					4																	104510899		2203	4300	6503	104730348	SO:0001819	synonymous_variant	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1338T>A	4.37:g.104510899A>T			104730348	Q0P510	Silent	SNP	ENST00000304883.2	37	CCDS3664.1	SNP	7	Broad																																																																																				0.463	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		Silent
ANK2	287	broad.mit.edu	37	4	114294463	114294463	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:114294463G>A	ENST00000357077.4	+	45	11770	c.11717G>A	c.(11716-11718)cGg>cAg	p.R3906Q	ANK2_ENST00000264366.6_Missense_Mutation_p.R3873Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1812Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R997Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1821Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R504Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3906			R -> W (in LQT4; loss of function; dbSNP:rs121912706). {ECO:0000269|PubMed:15178757}.		atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3906Q(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCATTAGGCGGTATGTATCC	0.388																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	4											82.0	83.0	82.0					4																	114294463		2203	4300	6503	114513912	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11717G>A	4.37:g.114294463G>A	ENSP00000349588:p.Arg3906Gln		114513912	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541703	0.85917	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	T;T;T;T;T;D;D	0.96913	-0.44;-0.42;-0.53;-0.54;-1.17;-2.16;-4.17	6.06	5.21	0.72293	.	0.152178	0.30959	N	0.008538	D	0.96722	0.8930	L	0.41356	1.27	0.35640	D	0.810947	D;D;D;P;D;P	0.89917	0.968;0.999;0.985;0.948;1.0;0.939	B;P;B;B;D;B	0.87578	0.269;0.822;0.416;0.254;0.998;0.388	D	0.98304	1.0520	10	0.32370	T	0.25	.	15.2349	0.73422	0.0671:0.0:0.9329:0.0	.	997;887;853;1821;3906;1812	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.	Q	1812;887;1821;3906;3873;1812;997;504;916	ENSP00000421067:R1812Q;ENSP00000378044:R1821Q;ENSP00000349588:R3906Q;ENSP00000264366:R3873Q;ENSP00000426944:R997Q;ENSP00000421023:R504Q;ENSP00000422498:R916Q	ENSP00000264366:R3873Q	R	+	2	0	ANK2	114513912	1.000000	0.71417	0.973000	0.42090	0.941000	0.58515	5.918000	0.69996	1.565000	0.49641	0.655000	0.94253	CGG		0.388	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		Missense_Mutation
SCLT1	132320	broad.mit.edu	37	4	129869664	129869664	+	Missense_Mutation	SNP	T	T	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:129869664T>A	ENST00000281142.5	-	15	1783	c.1280A>T	c.(1279-1281)gAa>gTa	p.E427V	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	427					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.E427V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTAGTTCTTCTTCCACTGC	0.338																																																1	Substitution - Missense(1)	ovary(1)	4											152.0	138.0	143.0					4																	129869664		2202	4298	6500	130089114	SO:0001583	missense	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1280A>T	4.37:g.129869664T>A	ENSP00000281142:p.Glu427Val		130089114	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	9.179	1.023117	0.19433	.	.	ENSG00000151466	ENST00000281142	T	0.35605	1.3	5.73	4.54	0.55810	.	0.230396	0.43416	D	0.000578	T	0.51075	0.1653	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.64237	0.923	T	0.46978	-0.9152	9	.	.	.	-13.1505	11.3914	0.49817	0.1358:0.0:0.0:0.8642	.	427	Q96NL6	SCLT1_HUMAN	V	427	ENSP00000281142:E427V	.	E	-	2	0	SCLT1	130089114	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	3.816000	0.55658	0.987000	0.38709	-0.327000	0.08410	GAA		0.338	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		Missense_Mutation
SNX25	83891	broad.mit.edu	37	4	186263210	186263210	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr4:186263210G>C	ENST00000504273.1	+	12	1929	c.1635G>C	c.(1633-1635)aaG>aaC	p.K545N	SNX25_ENST00000264694.8_Missense_Mutation_p.K545N|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	545	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.K545N(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTGAAACTAAGAACTGGACGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	4											163.0	161.0	162.0					4																	186263210		2203	4300	6503	186500204	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1635G>C	4.37:g.186263210G>C	ENSP00000426255:p.Lys545Asn		186500204	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131452	0.37630	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.30714	1.52;1.52	5.66	3.93	0.45458	Phox homologous domain (5);	0.106321	0.64402	D	0.000004	T	0.17280	0.0415	N	0.14661	0.345	0.41107	D	0.985719	B;B;B	0.16166	0.015;0.002;0.016	B;B;B	0.19148	0.022;0.007;0.024	T	0.06215	-1.0839	10	0.25106	T	0.35	-18.6372	9.8707	0.41172	0.209:0.0:0.791:0.0	.	316;78;545	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	N	545;545;78	ENSP00000426255:K545N;ENSP00000264694:K545N	ENSP00000264693:K78N	K	+	3	2	SNX25	186500204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.657000	0.37366	0.735000	0.32537	0.643000	0.83706	AAG		0.423	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		Missense_Mutation
CAST	831	broad.mit.edu	37	5	96079350	96079350	+	Intron	SNP	C	C	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr5:96079350C>G	ENST00000341926.3	+	14	1113				CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000508579.1_Intron|CAST_ENST00000511049.1_Intron|CAST_ENST00000325674.7_Intron|CAST_ENST00000348386.3_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000309190.5_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.S7W|CAST_ENST00000510756.1_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000509903.1_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000508608.1_Intron			P20810	ICAL_HUMAN	calpastatin						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TTTCTATCTTCGACTTTCTTG	0.537																																																0			5																																								96105106	SO:0001627	intron_variant	831			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.951+890C>G	5.37:g.96079350C>G			96105106	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37		SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098507	0.56183	.	.	ENSG00000153113	ENST00000515663	T	0.20881	2.04	3.7	3.7	0.42460	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.957;0.97	T	0.40701	-0.9549	8	0.87932	D	0	.	11.2466	0.49000	0.0:1.0:0.0:0.0	.	7;7	E7EQA0;E7EPY6	.;.	W	7	ENSP00000422929:S7W	ENSP00000422929:S7W	S	+	2	0	CAST	96105106	0.883000	0.30277	0.794000	0.32065	0.729000	0.41735	2.981000	0.49329	2.337000	0.79520	0.563000	0.77884	TCG		0.537	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		Missense_Mutation
RAD50	10111	broad.mit.edu	37	5	131976488	131976488	+	Missense_Mutation	SNP	C	C	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr5:131976488C>G	ENST00000265335.6	+	24	4130	c.3743C>G	c.(3742-3744)gCt>gGt	p.A1248G	AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000417516.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.A1109G|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000457489.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1248					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.A1109G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGCACATGCTCTGGTTGAG	0.453								Homologous recombination																																								1	Substitution - Missense(1)	ovary(1)	5											303.0	257.0	273.0					5																	131976488		2203	4300	6503	132004387	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3743C>G	5.37:g.131976488C>G	ENSP00000265335:p.Ala1248Gly		132004387	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	SNP	28	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.213931|3.213931	0.58452|0.58452	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000455677	T;T|.	0.03860|.	3.78;3.78|.	.|.	.|.	.|.	.|.	0.056854|.	0.64402|.	D|.	0.000001|.	T|T	0.55878|0.55878	0.1948|0.1948	L|L	0.51422|0.51422	1.61|1.61	0.53005|0.53005	D|D	0.999962|0.999962	P|.	0.50617|.	0.937|.	D|.	0.66497|.	0.944|.	T|T	0.48581|0.48581	-0.9023|-0.9023	8|3	0.66056|.	D|.	0.02|.	-7.2777|-7.2777	.|.	.|.	.|.	.|.	1248|.	Q92878|.	RAD50_HUMAN|.	G|W	1109;1248|126	ENSP00000368100:A1109G;ENSP00000265335:A1248G|.	ENSP00000265335:A1248G|.	A|C	+|+	2|3	0|2	RAD50|RAD50	132004387|132004387	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.857000|0.857000	0.48899|0.48899	6.510000|6.510000	0.73729|0.73729	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	GCT|TGC		0.453	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		Missense_Mutation
HIST1H3I	8354	broad.mit.edu	37	6	27839796	27839796	+	Missense_Mutation	SNP	A	A	G	rs142221765		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:27839796A>G	ENST00000328488.2	-	1	303	c.298T>C	c.(298-300)Tac>Cac	p.Y100H		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	100				Y -> T (in Ref. 7; CAB02546). {ECO:0000305}.	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)	p.Y100H(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCACCAGGTAGGCCTCGCAA	0.582																																																1	Substitution - Missense(1)	ovary(1)	6											92.0	98.0	96.0					6																	27839796		2203	4300	6503	27947775	SO:0001583	missense	8354			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.298T>C	6.37:g.27839796A>G	ENSP00000329554:p.Tyr100His		27947775	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	CCDS4636.1	SNP	15	Broad	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340833	0.60963	.	.	ENSG00000182572	ENST00000328488	T	0.50548	0.74	4.12	4.12	0.48240	.	.	.	.	.	T	0.52468	0.1736	.	.	.	0.39119	D	0.961638	.	.	.	.	.	.	T	0.60131	-0.7323	6	0.87932	D	0	.	13.3331	0.60500	1.0:0.0:0.0:0.0	.	.	.	.	H	100	ENSP00000329554:Y100H	ENSP00000329554:Y100H	Y	-	1	0	HIST1H3I	27947775	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.415000	0.90241	2.086000	0.62901	0.528000	0.53228	TAC		0.582	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		Missense_Mutation
OR14J1	442191	broad.mit.edu	37	6	29274985	29274985	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:29274985C>A	ENST00000377160.2	+	1	583	c.519C>A	c.(517-519)caC>caA	p.H173Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H173Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GAGTCATTCACCAATTCTTCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	6											167.0	168.0	167.0					6																	29274985		1511	2709	4220	29382964	SO:0001583	missense	442191				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.519C>A	6.37:g.29274985C>A	ENSP00000366365:p.His173Gln		29382964	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	CCDS34362.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031782	0.54790	.	.	ENSG00000204695	ENST00000377160	T	0.00137	8.68	4.86	-3.58	0.04597	GPCR, rhodopsin-like superfamily (1);	0.660504	0.13035	N	0.419040	T	0.00073	0.0002	L	0.53249	1.67	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.49234	-0.8961	10	0.32370	T	0.25	.	2.2389	0.04015	0.1045:0.311:0.3075:0.277	.	173	Q9UGF5	O14J1_HUMAN	Q	173	ENSP00000366365:H173Q	ENSP00000366365:H173Q	H	+	3	2	OR14J1	29382964	0.000000	0.05858	0.001000	0.08648	0.594000	0.36715	-1.633000	0.02022	-0.879000	0.04002	-0.127000	0.14921	CAC		0.468	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			Missense_Mutation
CMTR1	23070	broad.mit.edu	37	6	37418056	37418056	+	Silent	SNP	T	T	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:37418056T>C	ENST00000373451.4	+	5	638	c.474T>C	c.(472-474)ttT>ttC	p.F158F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	158					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.F158F(1)									TGTCATGGTTTCCAGAATGTA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	6											171.0	144.0	153.0					6																	37418056		2203	4300	6503	37526034	SO:0001819	synonymous_variant	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.474T>C	6.37:g.37418056T>C			37526034	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1	SNP	62	Broad																																																																																				0.478	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		Silent
MICAL1	64780	broad.mit.edu	37	6	109768420	109768420	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:109768420C>T	ENST00000358807.3	-	17	2394	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	MICAL1_ENST00000358577.3_Missense_Mutation_p.D609N|MICAL1_ENST00000368952.4_Missense_Mutation_p.D714N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	695	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.D695N(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCACACAGGTCCCCAGCACCG	0.617																																																1	Substitution - Missense(1)	ovary(1)	6											93.0	96.0	95.0					6																	109768420		2203	4300	6503	109875113	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2083G>A	6.37:g.109768420C>T	ENSP00000351664:p.Asp695Asn		109875113	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	14.30	2.492905	0.44352	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.53640	0.62;0.62;0.61	5.89	5.03	0.67393	Zinc finger, LIM-type (1);	0.337202	0.30742	N	0.008973	T	0.32823	0.0842	M	0.66506	2.035	0.24954	N	0.991776	P;B;B	0.34662	0.462;0.007;0.004	B;B;B	0.38985	0.287;0.011;0.005	T	0.24835	-1.0149	10	0.48119	T	0.1	.	11.0419	0.47835	0.0:0.915:0.0:0.085	.	714;609;695	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	695;714;609;219	ENSP00000351664:D695N;ENSP00000357948:D714N;ENSP00000351385:D609N	ENSP00000351385:D609N	D	-	1	0	MICAL1	109875113	0.011000	0.17503	0.350000	0.25708	0.250000	0.25880	1.942000	0.40243	1.504000	0.48704	-0.140000	0.14226	GAC		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		Missense_Mutation
SYNE1	23345	broad.mit.edu	37	6	152554927	152554927	+	Missense_Mutation	SNP	T	T	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:152554927T>C	ENST00000367255.5	-	112	21302	c.20701A>G	c.(20701-20703)Aag>Gag	p.K6901E	SYNE1_ENST00000423061.1_Missense_Mutation_p.K6830E|SYNE1_ENST00000356820.4_Missense_Mutation_p.K1425E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K6513E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K6830E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K6901E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6901					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K6901E(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTGGAGCTTCTCCTGGACG	0.463										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											67.0	59.0	62.0					6																	152554927		2203	4300	6503	152596620	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20701A>G	6.37:g.152554927T>C	ENSP00000356224:p.Lys6901Glu		152596620	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	29.6	5.017997	0.93404	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.74	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.62405	0.2425	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.61397	-0.7071	10	0.25751	T	0.34	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	6901;6901;6830	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	E	6901;6830;6901;6830;6513;1425	ENSP00000356224:K6901E;ENSP00000396024:K6830E;ENSP00000265368:K6901E;ENSP00000390975:K6830E;ENSP00000341887:K6513E;ENSP00000349276:K1425E	ENSP00000265368:K6901E	K	-	1	0	SYNE1	152596620	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	AAG		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		Missense_Mutation
SYNE1	23345	broad.mit.edu	37	6	152651696	152651696	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:152651696C>A	ENST00000367255.5	-	78	14725	c.14124G>T	c.(14122-14124)gaG>gaT	p.E4708D	SYNE1_ENST00000423061.1_Missense_Mutation_p.E4637D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4455D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4637D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4708D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4708					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4708D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGAAAGAGCCTCCTCAACGG	0.512										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											46.0	51.0	49.0					6																	152651696		2203	4300	6503	152693389	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14124G>T	6.37:g.152651696C>A	ENSP00000356224:p.Glu4708Asp		152693389	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	7.852	0.724281	0.15439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.93	-0.797	0.10909	.	0.000000	0.64402	D	0.000009	T	0.42675	0.1213	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.994;0.997	T	0.42799	-0.9430	10	0.18276	T	0.48	.	10.9298	0.47211	0.0:0.3972:0.0:0.6028	.	4708;4708;4708;4637	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4708;4637;4708;4637;4455	ENSP00000356224:E4708D;ENSP00000396024:E4637D;ENSP00000265368:E4708D;ENSP00000390975:E4637D;ENSP00000341887:E4455D	ENSP00000265368:E4708D	E	-	3	2	SYNE1	152693389	0.004000	0.15560	0.089000	0.20774	0.014000	0.08584	-0.347000	0.07750	-0.084000	0.12595	0.591000	0.81541	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		Missense_Mutation
QKI	9444	broad.mit.edu	37	6	163984627	163984627	+	Silent	SNP	A	A	T			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr6:163984627A>T	ENST00000361752.3	+	6	1361	c.810A>T	c.(808-810)ccA>ccT	p.P270P	QKI_ENST00000361195.2_Silent_p.P262P|QKI_ENST00000453779.2_Silent_p.P270P|QKI_ENST00000424802.3_Silent_p.P262P|QKI_ENST00000392127.2_Silent_p.P270P|QKI_ENST00000275262.7_Silent_p.P270P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	270					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P270P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTCCTCACCCAACTGCTGCAA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	6											105.0	99.0	101.0					6																	163984627		2203	4300	6503	163904617	SO:0001819	synonymous_variant	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.810A>T	6.37:g.163984627A>T			163904617	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	CCDS5285.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	A	8.188	0.795364	0.16327	.	.	ENSG00000112531	ENST00000537883;ENST00000544361	.	.	.	6.02	-10.3	0.00346	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42481	-0.9449	4	.	.	.	-1.2763	3.1926	0.06623	0.2452:0.431:0.1634:0.1604	.	.	.	.	Y	167;104	.	.	N	+	1	0	QKI	163904617	0.275000	0.24201	0.947000	0.38551	0.999000	0.98932	-0.536000	0.06135	-1.632000	0.01541	0.533000	0.62120	AAC		0.517	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		Silent
CSMD3	114788	broad.mit.edu	37	8	113326789	113326789	+	Missense_Mutation	SNP	C	C	T	rs533489245	byFrequency	TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr8:113326789C>T	ENST00000297405.5	-	48	7662	c.7418G>A	c.(7417-7419)gGa>gAa	p.G2473E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2369E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2433E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2403E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2473	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G2473E(1)		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						GTCAGGATATCCAGGGCTCAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	2	0.000399361	0.0	0.0	5008	,	,		16468	0.002		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	8											93.0	89.0	90.0					8																	113326789		2203	4300	6503	113395965	SO:0001583	missense	114788			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.7418G>A	8.37:g.113326789C>T	ENSP00000297405:p.Gly2473Glu		113395965	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472966	0.84640	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000001	T	0.64271	0.2583	M	0.85373	2.75	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.991	T	0.63337	-0.6660	10	0.26408	T	0.33	.	18.4156	0.90568	0.0:1.0:0.0:0.0	.	2369;2473;2433	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	2433;2473;1743;2369;2403	ENSP00000345799:G2433E;ENSP00000297405:G2473E;ENSP00000341558:G1743E;ENSP00000412263:G2369E;ENSP00000343124:G2403E	ENSP00000297405:G2473E	G	-	2	0	CSMD3	113395965	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.929000	0.70096	2.576000	0.86940	0.579000	0.79373	GGA		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		Missense_Mutation
TRPS1	7227	broad.mit.edu	37	8	116430677	116430677	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr8:116430677G>A	ENST00000220888.5	-	5	2824	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	TRPS1_ENST00000519076.1_Missense_Mutation_p.R643C|TRPS1_ENST00000395715.3_Missense_Mutation_p.R902C|TRPS1_ENST00000520276.1_Missense_Mutation_p.R893C			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R889C(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGCCTCTACGCCTCTGAAAC	0.473									Langer-Giedion syndrome																																							1	Substitution - Missense(1)	ovary(1)	8											88.0	89.0	89.0					8																	116430677		1909	4120	6029	116499853	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2665C>T	8.37:g.116430677G>A	ENSP00000220888:p.Arg889Cys		116499853	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		SNP	38	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.455925|3.455925	0.63401|0.63401	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.99695	.|-6.43;-6.43;-6.43;-6.43	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99402|0.99402	0.9789|0.9789	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.998	D|D	0.99585|0.99585	1.0974|1.0974	5|10	.|0.87932	.|D	.|0	.|.	20.0805|20.0805	0.97772|0.97772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|893;889;902	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	V|C	13|902;889;643;893	.|ENSP00000379065:R902C;ENSP00000220888:R889C;ENSP00000428910:R643C;ENSP00000428680:R893C	.|ENSP00000220888:R889C	A|R	-|-	2|1	0|0	TRPS1|TRPS1	116499853|116499853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.586000|7.586000	0.82596|0.82596	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		Missense_Mutation
PLEC	5339	broad.mit.edu	37	8	144995639	144995639	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr8:144995639G>C	ENST00000322810.4	-	32	8930	c.8761C>G	c.(8761-8763)Cag>Gag	p.Q2921E	PLEC_ENST00000354958.2_Missense_Mutation_p.Q2762E|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2784E|PLEC_ENST00000436759.2_Missense_Mutation_p.Q2811E|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2784E|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2752E|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2770E|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2807E|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2788E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2921	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.Q2921E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGATCTGCTGGCCAGTGTAG	0.657																																																1	Substitution - Missense(1)	ovary(1)	8											40.0	48.0	45.0					8																	144995639		2038	4172	6210	145067627	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8761C>G	8.37:g.144995639G>C	ENSP00000323856:p.Gln2921Glu		145067627	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	2.875	-0.233118	0.05983	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.94	3.13	0.36017	.	0.438741	0.19032	N	0.124540	T	0.34919	0.0914	N	0.02697	-0.525	0.23708	N	0.997051	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.23868	-1.0176	10	0.02654	T	1	.	10.2063	0.43116	0.0:0.7805:0.1424:0.0771	.	2811;2770;2762;2921;2752;2784;2788;2784	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	E	2784;2788;2784;2752;2921;2762;2770;2811;2807	ENSP00000344848:Q2784E;ENSP00000350277:Q2788E;ENSP00000346602:Q2784E;ENSP00000381756:Q2752E;ENSP00000323856:Q2921E;ENSP00000347044:Q2762E;ENSP00000348702:Q2770E;ENSP00000388180:Q2811E;ENSP00000434583:Q2807E	ENSP00000323856:Q2921E	Q	-	1	0	PLEC	145067627	0.130000	0.22417	0.229000	0.23960	0.030000	0.12068	1.025000	0.30090	0.614000	0.30107	-0.535000	0.04281	CAG		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		Missense_Mutation
PRKACG	5568	broad.mit.edu	37	9	71628252	71628252	+	Missense_Mutation	SNP	A	A	G			TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chr9:71628252A>G	ENST00000377276.2	-	1	787	c.757T>C	c.(757-759)Tct>Cct	p.S253P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.S253P(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACCCTCCCAGAGACGATCTTC	0.607																																					Esophageal Squamous(110;2236 2623 32146)											1	Substitution - Missense(1)	ovary(1)	9											76.0	77.0	77.0					9																	71628252		2203	4300	6503	70818072	SO:0001583	missense	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.757T>C	9.37:g.71628252A>G	ENSP00000366488:p.Ser253Pro		70818072	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	A	15.77	2.930364	0.52866	.	.	ENSG00000165059	ENST00000377276	T	0.08546	3.08	1.16	1.16	0.20824	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31041	U	0.008373	T	0.11153	0.0272	L	0.41415	1.275	0.29367	N	0.864269	P	0.37997	0.614	P	0.49047	0.599	T	0.04664	-1.0935	10	0.72032	D	0.01	.	6.0938	0.20008	1.0:0.0:0.0:0.0	.	253	P22612	KAPCG_HUMAN	P	253	ENSP00000366488:S253P	ENSP00000366488:S253P	S	-	1	0	PRKACG	70818072	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	4.281000	0.58965	0.470000	0.27294	0.460000	0.39030	TCT		0.607	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			Missense_Mutation
MAGEB2	4113	broad.mit.edu	37	X	30236764	30236764	+	Missense_Mutation	SNP	C	C	T	rs369826731		TCGA-59-2363-01	TCGA-59-2363-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-59-2363-01	TCGA-59-2363-10	g.chrX:30236764C>T	ENST00000378988.4	+	2	168	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	23								p.R23W(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGATGAGACCCGGGGTCTCAA	0.572																																																1	Substitution - Missense(1)	ovary(1)	X											36.0	35.0	36.0					X																	30236764		2202	4300	6502	30146685	SO:0001583	missense	4113			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.67C>T	X.37:g.30236764C>T	ENSP00000368273:p.Arg23Trp		30146685	O75860	Missense_Mutation	SNP	ENST00000378988.4	37	CCDS14219.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549596	0.45383	.	.	ENSG00000099399	ENST00000378988	T	0.04706	3.57	3.43	2.52	0.30459	Melanoma associated antigen, MAGE, N-terminal (1);	0.653207	0.14428	N	0.320189	T	0.05456	0.0144	N	0.19112	0.55	0.09310	N	1	P	0.49253	0.921	P	0.49301	0.606	T	0.34601	-0.9822	10	0.87932	D	0	.	6.9911	0.24755	0.2706:0.7294:0.0:0.0	.	23	O15479	MAGB2_HUMAN	W	23	ENSP00000368273:R23W	ENSP00000368273:R23W	R	+	1	2	MAGEB2	30146685	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.408000	0.21065	0.778000	0.33520	0.513000	0.50165	CGG		0.572	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		Missense_Mutation
