#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
SZT2	23334	broad.mit.edu	37	1	43898739	43898739	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:43898739G>A	ENST00000562955.1	+	39	5511	c.5511G>A	c.(5509-5511)cgG>cgA	p.R1837R	SZT2_ENST00000372442.1_Silent_p.R995R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1894					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R995R(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCACATTGCGGACTCCACCTG	0.607																																																2	Substitution - coding silent(2)	ovary(2)	1											146.0	127.0	133.0					1																	43898739		2203	4300	6503	43671326	SO:0001819	synonymous_variant	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5511G>A	1.37:g.43898739G>A			43671326	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2	SNP	41	Broad																																																																																				0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		Silent
TMEM53	79639	broad.mit.edu	37	1	45120309	45120309	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:45120309G>A	ENST00000372237.3	-	3	919	c.756C>T	c.(754-756)caC>caT	p.H252H	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Silent_p.H222H|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	252						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.H252H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GGTGGCTGACGTGTGCAGATG	0.587																																																1	Substitution - coding silent(1)	ovary(1)	1											98.0	107.0	104.0					1																	45120309		2203	4300	6503	44892896	SO:0001819	synonymous_variant	79639				CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.756C>T	1.37:g.45120309G>A			44892896	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Silent	SNP	ENST00000372237.3	37	CCDS511.1	SNP	40	Broad																																																																																				0.587	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		Silent
FAM73A	374986	broad.mit.edu	37	1	78248936	78248936	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:78248936C>A	ENST00000370791.3	+	2	127	c.95C>A	c.(94-96)gCc>gAc	p.A32D	FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	32						integral component of membrane (GO:0016021)		p.A32D(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAAGAGGAGCCATGTCAGAA	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											115.0	111.0	113.0					1																	78248936		2203	4300	6503	78021524	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.95C>A	1.37:g.78248936C>A	ENSP00000359827:p.Ala32Asp		78021524	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249675	0.39797	.	.	ENSG00000180488	ENST00000370791	T	0.24538	1.85	5.33	-0.145	0.13436	.	0.586624	0.16282	N	0.221302	T	0.04048	0.0113	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31833	-0.9929	10	0.29301	T	0.29	-0.5452	1.2546	0.01989	0.1404:0.3244:0.2077:0.3276	.	32;32	B7ZLZ8;Q8NAN2	.;FA73A_HUMAN	D	32	ENSP00000359827:A32D	ENSP00000359827:A32D	A	+	2	0	FAM73A	78021524	1.000000	0.71417	0.942000	0.38095	0.945000	0.59286	0.300000	0.19156	0.081000	0.16988	-0.291000	0.09656	GCC		0.353	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		Missense_Mutation
GFI1	2672	broad.mit.edu	37	1	92948474	92948474	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:92948474C>T	ENST00000370332.1	-	3	563	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	GFI1_ENST00000427103.1_Missense_Mutation_p.R82Q|GFI1_ENST00000483490.1_5'Flank|GFI1_ENST00000294702.5_Missense_Mutation_p.R82Q	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	82					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R82Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CTCCGAGCTCCGTTCGCAGAC	0.677																																																1	Substitution - Missense(1)	ovary(1)	1											39.0	47.0	45.0					1																	92948474		2203	4300	6503	92721062	SO:0001583	missense	2672			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.245G>A	1.37:g.92948474C>T	ENSP00000359357:p.Arg82Gln		92721062	Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	CCDS30773.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135252	0.56828	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.11169	2.8;2.8;2.8	5.42	-0.837	0.10766	.	0.495623	0.21413	N	0.074959	T	0.02888	0.0086	L	0.55481	1.735	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.41840	-0.9486	10	0.31617	T	0.26	-4.2303	7.5757	0.27935	0.0:0.354:0.437:0.209	.	82	Q99684	GFI1_HUMAN	Q	82	ENSP00000359357:R82Q;ENSP00000399719:R82Q;ENSP00000294702:R82Q	ENSP00000294702:R82Q	R	-	2	0	GFI1	92721062	0.767000	0.28508	0.352000	0.25734	0.794000	0.44872	1.944000	0.40263	-0.334000	0.08463	-0.291000	0.09656	CGG		0.677	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		Missense_Mutation
GSTM1	2944	broad.mit.edu	37	1	110230857	110230858	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:110230857_110230858GA>TC	ENST00000309851.5	+	2	156_157	c.102_103GA>TC	c.(100-105)acGAtg>acTCtg	p.M35L	GSTM1_ENST00000349334.3_Missense_Mutation_p.M35L|GSTM2_ENST00000369831.2_Intron|GSTM1_ENST00000490021.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM1_ENST00000369819.2_Missense_Mutation_p.M35L|GSTM1_ENST00000483399.2_Missense_Mutation_p.M35L|GSTM1_ENST00000369823.2_Missense_Mutation_p.M35L	NM_000561.3	NP_000552.2	P09488	GSTM1_HUMAN	glutathione S-transferase mu 1	35	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.M35L(1)		endometrium(1)|lung(1)|ovary(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Azathioprine(DB00993)|Busulfan(DB01008)|Carboplatin(DB00958)|Cisplatin(DB00515)|Glutathione(DB00143)|Oxaliplatin(DB00526)	AGAAGTACACGATGGGGGACGG	0.609									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																							1	Substitution - Missense(1)	ovary(1)	1																																								110032381	SO:0001583	missense	2944	Familial Cancer Database	incl.: Familial Head and Neck Cancer; ;AIMAH, Cushing disease, Adrenal, Familial	BC036805	CCDS809.1, CCDS810.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134184	ENSG00000134184	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4632	protein-coding gene	gene with protein product		138350	"""glutathione S-transferase M1"""	GST1			Standard	NM_000561		Approved	MU, H-B	uc001dyk.3	P09488	OTTHUMG00000011635	Exception_encountered	1.37:g.110230857_110230858delinsTC	ENSP00000311469:p.Met35Leu		110032380	Q5GHG0|Q6FH88|Q8TC98|Q9UC96	Missense_Mutation	DNP	ENST00000309851.5	37	CCDS809.1	DNP	37	Broad																																																																																				0.609	GSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032151.2	NM_000561		Missense_Mutation
KIF14	9928	broad.mit.edu	37	1	200522809	200522809	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:200522809G>A	ENST00000367350.4	-	30	5092	c.4654C>T	c.(4654-4656)Cct>Tct	p.P1552S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1552	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.P1552S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GAAGTAGAAGGCACACTGAAG	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											98.0	94.0	95.0					1																	200522809		2203	4300	6503	198789432	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4654C>T	1.37:g.200522809G>A	ENSP00000356319:p.Pro1552Ser		198789432	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190582	0.21954	.	.	ENSG00000118193	ENST00000367350	T	0.71222	-0.55	5.74	-1.45	0.08828	.	1.520550	0.03930	N	0.285133	T	0.47358	0.1441	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23619	-1.0183	10	0.19147	T	0.46	.	6.1866	0.20500	0.3908:0.1352:0.474:0.0	.	1552	Q15058	KIF14_HUMAN	S	1552	ENSP00000356319:P1552S	ENSP00000356319:P1552S	P	-	1	0	KIF14	198789432	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.114000	0.10757	-0.308000	0.08792	-0.136000	0.14681	CCT		0.403	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		Missense_Mutation
AHCTF1	25909	broad.mit.edu	37	1	247079566	247079566	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:247079566C>T	ENST00000391829.2	-	3	376	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.E94K|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E120K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	85	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E85K(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGAGAATTCTTTCACAGCT	0.388																																					Colon(145;197 1800 4745 15099 26333)											1	Substitution - Missense(1)	ovary(1)	1											26.0	27.0	27.0					1																	247079566		2184	4271	6455	245146189	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.253G>A	1.37:g.247079566C>T	ENSP00000375705:p.Glu85Lys		245146189	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37		SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	35	5.526911	0.96431	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38077	1.16;1.16;1.16	5.8	5.8	0.92144	.	0.048777	0.85682	D	0.000000	T	0.58764	0.2145	L	0.56769	1.78	0.54753	D	0.999987	D;D	0.69078	0.997;0.997	D;P	0.68353	0.957;0.908	T	0.57665	-0.7772	10	0.66056	D	0.02	-23.9589	20.0545	0.97645	0.0:1.0:0.0:0.0	.	120;85	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	K	120;94;85	ENSP00000355464:E120K;ENSP00000355465:E94K;ENSP00000375705:E85K	ENSP00000355465:E94K	E	-	1	0	AHCTF1	245146189	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.128000	0.77217	2.748000	0.94277	0.655000	0.94253	GAA		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		Missense_Mutation
KAT6B	23522	broad.mit.edu	37	10	76784924	76784924	+	Missense_Mutation	SNP	A	A	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr10:76784924A>T	ENST00000287239.4	+	17	4070	c.3581A>T	c.(3580-3582)cAg>cTg	p.Q1194L	RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.Q902L|KAT6B_ENST00000372711.1_Missense_Mutation_p.Q1011L|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q902L|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q902L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1194					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1194L(1)									AAAGCATTCCAGCATCAGCCT	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											100.0	92.0	95.0					10																	76784924		2203	4300	6503	76454930	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3581A>T	10.37:g.76784924A>T	ENSP00000287239:p.Gln1194Leu		76454930	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897598	0.52121	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.76968	2.16;2.16;-1.06;2.16;-1.06	5.66	4.49	0.54785	.	0.157221	0.29579	N	0.011756	T	0.64338	0.2589	L	0.36672	1.1	0.32308	N	0.564075	B;B;P	0.34909	0.018;0.039;0.475	B;B;B	0.26770	0.013;0.032;0.073	T	0.66674	-0.5864	10	0.27082	T	0.32	-4.0365	11.4067	0.49902	0.8488:0.1512:0.0:0.0	.	1011;902;1194	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	L	902;902;1194;902;1011	ENSP00000361810:Q902L;ENSP00000361809:Q902L;ENSP00000287239:Q1194L;ENSP00000361799:Q902L;ENSP00000361796:Q1011L	ENSP00000287239:Q1194L	Q	+	2	0	KAT6B	76454930	0.974000	0.33945	0.990000	0.47175	0.995000	0.86356	4.154000	0.58125	0.925000	0.37094	0.533000	0.62120	CAG		0.468	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		Missense_Mutation
PAAF1	80227	broad.mit.edu	37	11	73611394	73611394	+	Missense_Mutation	SNP	T	T	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr11:73611394T>A	ENST00000310571.3	+	6	514	c.461T>A	c.(460-462)aTg>aAg	p.M154K	PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000541951.1_Missense_Mutation_p.M39K|PAAF1_ENST00000376384.5_Missense_Mutation_p.M137K|PAAF1_ENST00000544552.1_Missense_Mutation_p.M137K|PAAF1_ENST00000535604.1_Missense_Mutation_p.M39K|PAAF1_ENST00000536003.1_Missense_Mutation_p.M137K|PAAF1_ENST00000544909.1_Missense_Mutation_p.M155K	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	154					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.M154K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGTGGGGGAATGGATGCCCAG	0.453																																																1	Substitution - Missense(1)	ovary(1)	11											167.0	161.0	163.0					11																	73611394		2200	4293	6493	73289042	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.461T>A	11.37:g.73611394T>A	ENSP00000311665:p.Met154Lys		73289042	A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	CCDS8226.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219209	0.58560	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000536582;ENST00000544909	T;T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;2.29;0.3;0.3;0.3	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060631	0.64402	D	0.000002	T	0.56514	0.1990	N	0.11201	0.11	0.51767	D	0.999939	D;D	0.54772	0.96;0.968	D;D	0.67900	0.948;0.954	T	0.57435	-0.7812	10	0.23891	T	0.37	-10.8456	14.8664	0.70419	0.0:0.0:0.0:1.0	.	137;154	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	K	39;154;137;137;39;39;137;137;18;137;132;155	ENSP00000441333:M39K;ENSP00000311665:M154K;ENSP00000439747:M137K;ENSP00000438894:M137K;ENSP00000438789:M39K;ENSP00000439143:M39K;ENSP00000438124:M137K;ENSP00000441494:M137K;ENSP00000439877:M18K;ENSP00000365564:M137K;ENSP00000443473:M132K;ENSP00000438071:M155K	ENSP00000311665:M154K	M	+	2	0	PAAF1	73289042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.750000	0.68712	2.185000	0.69588	0.528000	0.53228	ATG		0.453	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		Missense_Mutation
PRMT8	56341	broad.mit.edu	37	12	3686074	3686074	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr12:3686074C>G	ENST00000382622.3	+	7	1140	c.750C>G	c.(748-750)atC>atG	p.I250M	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.I241M	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	250	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.I250M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGACCTGCATCCGGGACGTGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	12											285.0	254.0	265.0					12																	3686074		2203	4300	6503	3556335	SO:0001583	missense	56341			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.750C>G	12.37:g.3686074C>G	ENSP00000372067:p.Ile250Met		3556335	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105912	0.20632	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.22539	1.95;1.95	5.23	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	L	0.33792	1.035	0.80722	D	1	B;B	0.22346	0.068;0.009	B;B	0.26202	0.067;0.031	T	0.10636	-1.0621	10	0.20519	T	0.43	.	8.9478	0.35769	0.0:0.7538:0.0:0.2462	.	241;250	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	M	241;250	ENSP00000414507:I241M;ENSP00000372067:I250M	ENSP00000372067:I250M	I	+	3	3	PRMT8	3556335	1.000000	0.71417	0.996000	0.52242	0.296000	0.27459	0.892000	0.28322	0.237000	0.21200	-0.123000	0.14984	ATC		0.572	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		Missense_Mutation
MGAT4C	25834	broad.mit.edu	37	12	86377377	86377377	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr12:86377377G>A	ENST00000604798.1	-	7	1423	c.219C>T	c.(217-219)ttC>ttT	p.F73F	MGAT4C_ENST00000393205.2_Silent_p.F102F|MGAT4C_ENST00000552808.2_Silent_p.F73F|MGAT4C_ENST00000549405.2_Silent_p.F73F|MGAT4C_ENST00000552435.2_Silent_p.F73F|MGAT4C_ENST00000548651.1_Silent_p.F73F|MGAT4C_ENST00000332156.1_Silent_p.F73F			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	73					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.F73F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATAAATCCTTGAAAGTATGAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	12											139.0	139.0	139.0					12																	86377377		2203	4300	6503	84901508	SO:0001819	synonymous_variant	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.219C>T	12.37:g.86377377G>A			84901508	B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	CCDS9030.1	SNP	45	Broad																																																																																				0.358	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		Silent
P2RX2	22953	broad.mit.edu	37	12	133198402	133198402	+	Silent	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr12:133198402C>A	ENST00000389110.3	+	11	1297	c.1260C>A	c.(1258-1260)ggC>ggA	p.G420G	P2RX2_ENST00000350048.5_Silent_p.G396G|P2RX2_ENST00000343948.4_Silent_p.G446G|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Silent_p.G348G|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000351222.4_Silent_p.G328G	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	420					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.G446G(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CTCCATCAGGCCAGGAGGGCC	0.687																																																1	Substitution - coding silent(1)	ovary(1)	12											33.0	36.0	35.0					12																	133198402		2203	4299	6502	131708475	SO:0001819	synonymous_variant	22953			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1260C>A	12.37:g.133198402C>A			131708475	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	ENST00000389110.3	37	CCDS31931.1	SNP	26	Broad																																																																																				0.687	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			Silent
JPH4	84502	broad.mit.edu	37	14	24040671	24040671	+	Splice_Site	SNP	T	T	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr14:24040671T>A	ENST00000397118.3	-	6	2173		c.e6-2		JPH4_ENST00000544177.1_Splice_Site|JPH4_ENST00000356300.4_Splice_Site	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4						calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.?(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGCGGCCTGGGTAGGGAT	0.592																																																1	Unknown(1)	ovary(1)	14											32.0	33.0	33.0					14																	24040671		2203	4298	6501	23110511	SO:0001630	splice_region_variant	84502			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1271-2A>T	14.37:g.24040671T>A			23110511	D3DS53|Q8ND44|Q96DQ0	Splice_Site_SNP	SNP	ENST00000397118.3	37	CCDS9603.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669394	0.67814	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6826	0.51466	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JPH4	23110511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.651000	0.46674	2.081000	0.62600	0.533000	0.62120	.		0.592	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452	Intron	Splice_Site_SNP
ZFYVE26	23503	broad.mit.edu	37	14	68252856	68252856	+	Silent	SNP	A	A	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr14:68252856A>C	ENST00000347230.4	-	17	3252	c.3114T>G	c.(3112-3114)ctT>ctG	p.L1038L	ZFYVE26_ENST00000555452.1_Silent_p.L1038L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1038					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L1038L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGCTGACATAAGCAGATAAT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	14											111.0	109.0	110.0					14																	68252856		2203	4300	6503	67322609	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3114T>G	14.37:g.68252856A>C			67322609	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1	SNP	13	Broad																																																																																				0.413	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		Silent
SLC8A3	6547	broad.mit.edu	37	14	70633727	70633727	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr14:70633727G>A	ENST00000381269.2	-	2	2166	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	471	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.D471D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAAAATGTCGTCATCAATTA	0.512																																																1	Substitution - coding silent(1)	ovary(1)	14											162.0	163.0	163.0					14																	70633727		2203	4300	6503	69703480	SO:0001819	synonymous_variant	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1413C>T	14.37:g.70633727G>A			69703480	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1	SNP	40	Broad																																																																																				0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			Silent
FMN1	342184	broad.mit.edu	37	15	33066556	33066556	+	Splice_Site	SNP	C	C	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr15:33066556C>G	ENST00000559047.1	-	18	4215		c.e18-1		FMN1_ENST00000561249.1_Splice_Site|FMN1_ENST00000334528.9_Splice_Site			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GTCTTTCTTTCTGTTAAGGAA	0.388																																																1	Unknown(1)	ovary(1)	15											98.0	92.0	94.0					15																	33066556		1908	4130	6038	30853848	SO:0001630	splice_region_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4216-1G>C	15.37:g.33066556C>G			30853848	Q3B7I6|Q3ZAR4|Q6ZSY1	Splice_Site_SNP	SNP	ENST00000559047.1	37		SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803914	0.70682	.	.	ENSG00000248905	ENST00000334528	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8328	0.78769	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FMN1	30853848	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.197000	0.65141	2.710000	0.92621	0.650000	0.86243	.		0.388	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	Intron	Splice_Site_SNP
SPATA5L1	79029	broad.mit.edu	37	15	45713252	45713252	+	Silent	SNP	G	G	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr15:45713252G>T	ENST00000305560.6	+	8	2205	c.2106G>T	c.(2104-2106)ctG>ctT	p.L702L	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	702						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L702L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGCTGGCTCTGCAAG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	15											55.0	56.0	56.0					15																	45713252		2198	4298	6496	43500544	SO:0001819	synonymous_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2106G>T	15.37:g.45713252G>T			43500544	C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	CCDS10123.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	7.738	0.700731	0.15172	.	.	ENSG00000171763	ENST00000531624	.	.	.	5.6	2.58	0.30949	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50750	-0.8791	4	.	.	.	-18.1386	9.3252	0.37988	0.0:0.1332:0.4592:0.4076	.	.	.	.	L	207	.	.	W	+	2	0	SPATA5L1	43500544	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.165000	0.31822	0.262000	0.21774	0.561000	0.74099	TGG		0.398	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		Silent
IST1	9798	broad.mit.edu	37	16	71954710	71954710	+	Silent	SNP	A	A	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr16:71954710A>G	ENST00000378799.6	+	5	782	c.426A>G	c.(424-426)ggA>ggG	p.G142G	IST1_ENST00000606369.1_Intron|IST1_ENST00000535424.1_Silent_p.G155G|IST1_ENST00000538565.1_Intron|IST1_ENST00000378798.5_Silent_p.G142G|IST1_ENST00000541571.2_Silent_p.G142G|IST1_ENST00000329908.8_Silent_p.G142G|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Silent_p.G142G|IST1_ENST00000538850.1_5'UTR			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	142	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.G142G(1)									ACCAGATTGGAACTGTGAATG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	16											172.0	141.0	151.0					16																	71954710		2198	4300	6498	70512211	SO:0001819	synonymous_variant	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.426A>G	16.37:g.71954710A>G			70512211	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	9.466	1.094411	0.20471	.	.	ENSG00000182149	ENST00000541848	.	.	.	5.76	2.13	0.27403	.	.	.	.	.	T	0.53802	0.1819	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40646	-0.9552	4	.	.	.	-14.5355	5.9604	0.19297	0.4266:0.3802:0.1932:0.0	.	.	.	.	G	29	.	.	E	+	2	0	KIAA0174	70512211	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.505000	0.22642	0.085000	0.17107	0.528000	0.53228	GAA		0.418	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		Silent
TRPV1	7442	broad.mit.edu	37	17	3493627	3493627	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr17:3493627C>T	ENST00000571088.1	-	5	877	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	TRPV1_ENST00000399756.4_Missense_Mutation_p.V222M|TRPV1_ENST00000425167.2_Missense_Mutation_p.V222M|TRPV1_ENST00000174621.6_Missense_Mutation_p.V220M|TRPV1_ENST00000576351.1_Missense_Mutation_p.V222M|TRPV1_ENST00000399759.3_Missense_Mutation_p.V222M|SHPK_ENST00000572705.1_Missense_Mutation_p.V222M|TRPV1_ENST00000310522.5_Missense_Mutation_p.V222M	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	222					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.V222M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCGTTCTCCACCAGGAGGGTC	0.602																																					Melanoma(38;962 1762 15789)											1	Substitution - Missense(1)	ovary(1)	17											73.0	78.0	76.0					17																	3493627		2140	4249	6389	3440376	SO:0001583	missense	7442			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.664G>A	17.37:g.3493627C>T	ENSP00000461007:p.Val222Met		3440376	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	CCDS45576.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164202	0.57476	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.67171	-0.18;-0.18;-0.18;-0.25;-0.25	5.29	4.3	0.51218	Ankyrin repeat-containing domain (4);	0.113521	0.64402	D	0.000013	T	0.74786	0.3762	L	0.44542	1.39	0.45607	D	0.998548	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.995;0.987	T	0.77051	-0.2731	10	0.87932	D	0	-13.8015	12.4794	0.55833	0.3043:0.6957:0.0:0.0	.	222;220;222;222	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	M	222;222;220;222;222	ENSP00000382661:V222M;ENSP00000382659:V222M;ENSP00000174621:V220M;ENSP00000409627:V222M;ENSP00000311692:V222M	ENSP00000174621:V220M	V	-	1	0	TRPV1	3440376	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	2.016000	0.40971	1.342000	0.45619	-0.293000	0.09583	GTG		0.602	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr17:7577550C>T	ENST00000269305.4	-	7	920	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000420246.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000574684.1_5'Flank	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM056069|CM070298	TP53	M	rs28934572						148.0	111.0	124.0					17																	7577550		2203	4300	6503	7518275	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.731G>A	17.37:g.7577550C>T	ENSP00000269305:p.Gly244Asp		7518275	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	26	Broad	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842901	0.91197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934572	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244D;ENSP00000352610:G244D;ENSP00000269305:G244D;ENSP00000398846:G244D;ENSP00000391127:G244D;ENSP00000391478:G244D;ENSP00000425104:G112D;ENSP00000423862:G151D	ENSP00000269305:G244D	G	-	2	0	TP53	7518275	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
LLGL1	3996	broad.mit.edu	37	17	18138572	18138572	+	Silent	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr17:18138572C>A	ENST00000316843.4	+	10	1326	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	410					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.A410A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGCTGTGGGCCCGCATTGTGA	0.667																																																1	Substitution - coding silent(1)	ovary(1)	17											18.0	19.0	19.0					17																	18138572		2197	4290	6487	18079297	SO:0001819	synonymous_variant	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1230C>A	17.37:g.18138572C>A			18079297	A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	CCDS32586.1	SNP	22	Broad																																																																																				0.667	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			Silent
BRCA1	672	broad.mit.edu	37	17	41246256	41246256	+	Nonsense_Mutation	SNP	A	A	C	rs398122629|rs80357346		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr17:41246256A>C	ENST00000357654.3	-	10	1410	c.1292T>G	c.(1291-1293)tTa>tGa	p.L431*	BRCA1_ENST00000471181.2_Nonsense_Mutation_p.L431*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.L431*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Nonsense_Mutation_p.L135*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.L384*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.L431*|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	431					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L431*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGGCCAGTAAGTCTATTTT	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM984068	BRCA1	M	rs80357346						77.0	77.0	77.0					17																	41246256		2203	4299	6502	38499782	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1292T>G	17.37:g.41246256A>C	ENSP00000350283:p.Leu431*		38499782	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	SNP	13	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.07|15.07	2.724801|2.724801	0.48833|0.48833	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123|ENST00000473961	.|.	.|.	.|.	4.57|4.57	3.49|3.49	0.39957|0.39957	.|.	0.428430|.	0.17534|.	N|.	0.170797|.	.|T	.|0.31918	.|0.0812	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35525	.|-0.9785	.|3	0.02654|.	T|.	1|.	.|.	2.8871|2.8871	0.05664|0.05664	0.6109:0.0:0.204:0.1851|0.6109:0.0:0.204:0.1851	.|.	.|.	.|.	.|.	X|D	431;431;431;431;135;431;384;431;405;135;431|297	.|.	ENSP00000310938:L135X|.	L|Y	-|-	2|1	0|0	BRCA1|BRCA1	38499782|38499782	0.010000|0.010000	0.17322|0.17322	0.490000|0.490000	0.27465|0.27465	0.634000|0.634000	0.38068|0.38068	1.332000|1.332000	0.33805|0.33805	0.887000|0.887000	0.36136|0.36136	0.460000|0.460000	0.39030|0.39030	TTA|TAC		0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		Nonsense_Mutation
PTGIR	5739	broad.mit.edu	37	19	47127045	47127045	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr19:47127045G>A	ENST00000291294.2	-	2	571	c.438C>T	c.(436-438)ttC>ttT	p.F146F	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Silent_p.F146F|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	146					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.F146F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	AGAGGACGCAGAAGGCGTAGA	0.731																																																1	Substitution - coding silent(1)	ovary(1)	19											8.0	10.0	9.0					19																	47127045		2083	4116	6199	51818885	SO:0001819	synonymous_variant	5739				CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.438C>T	19.37:g.47127045G>A			51818885		Silent	SNP	ENST00000291294.2	37	CCDS12686.1	SNP	33	Broad																																																																																				0.731	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			Silent
MYBPC2	4606	broad.mit.edu	37	19	50962177	50962177	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr19:50962177C>A	ENST00000357701.5	+	22	2560	c.2509C>A	c.(2509-2511)Cca>Aca	p.P837T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	837					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.P837T(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCTCAGAGCCACCCAAGAT	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											22.0	28.0	26.0					19																	50962177		2009	4213	6222	55653989	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2509C>A	19.37:g.50962177C>A	ENSP00000350332:p.Pro837Thr		55653989	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	c	11.33	1.606281	0.28623	.	.	ENSG00000086967	ENST00000357701	T	0.59364	0.27	4.01	4.01	0.46588	Immunoglobulin-like fold (1);	0.207912	0.21198	U	0.078515	T	0.42966	0.1226	N	0.20845	0.615	0.24253	N	0.995317	B	0.14012	0.009	B	0.21708	0.036	T	0.19095	-1.0316	10	0.21014	T	0.42	.	15.2553	0.73579	0.0:1.0:0.0:0.0	.	837	Q14324	MYPC2_HUMAN	T	837	ENSP00000350332:P837T	ENSP00000350332:P837T	P	+	1	0	MYBPC2	55653989	0.969000	0.33509	0.998000	0.56505	0.989000	0.77384	2.515000	0.45512	1.967000	0.57214	0.457000	0.33378	CCA		0.667	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		Missense_Mutation
CACNG6	59285	broad.mit.edu	37	19	54501503	54501503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr19:54501503C>A	ENST00000252729.2	+	2	932	c.342C>A	c.(340-342)tgC>tgA	p.C114*	CACNG6_ENST00000346968.2_Nonsense_Mutation_p.C114*|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	114					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.C114*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAGCAAACTGCACCTATTTTA	0.517																																																1	Substitution - Nonsense(1)	ovary(1)	19											115.0	96.0	103.0					19																	54501503		2203	4300	6503	59193315	SO:0001587	stop_gained	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.342C>A	19.37:g.54501503C>A	ENSP00000252729:p.Cys114*		59193315		Nonsense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	.	42	9.371216	0.99151	.	.	ENSG00000130433	ENST00000252729;ENST00000346968	.	.	.	5.36	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1534	7.6915	0.28571	0.0:0.7355:0.0:0.2645	.	.	.	.	X	114	.	ENSP00000252729:C114X	C	+	3	2	CACNG6	59193315	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.940000	0.28992	0.356000	0.24157	-0.136000	0.14681	TGC		0.517	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			Nonsense_Mutation
LILRA6	79168	broad.mit.edu	37	19	54744933	54744933	+	Silent	SNP	G	G	T	rs370563015		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr19:54744933G>T	ENST00000396365.2	-	5	768	c.729C>A	c.(727-729)ctC>ctA	p.L243L	LILRA6_ENST00000419410.2_Silent_p.L243L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Silent_p.L243L|LILRA6_ENST00000245621.5_Silent_p.L243L|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	243	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L243L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCCACACTGGAGGGTCAGGC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	19											69.0	80.0	76.0					19																	54744933		2203	4300	6503	59436745	SO:0001819	synonymous_variant	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.729C>A	19.37:g.54744933G>T			59436745		Silent	SNP	ENST00000396365.2	37	CCDS42610.1	SNP	41	Broad																																																																																				0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		Silent
RAB10	10890	broad.mit.edu	37	2	26350058	26350058	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:26350058G>A	ENST00000264710.4	+	4	872	c.373G>A	c.(373-375)Gat>Aat	p.D125N	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	125					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D125N(1)		lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACAAGTGTGATATGGACGA	0.333																																																1	Substitution - Missense(1)	ovary(1)	2											143.0	146.0	145.0					2																	26350058		2203	4297	6500	26203562	SO:0001583	missense	10890			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.373G>A	2.37:g.26350058G>A	ENSP00000264710:p.Asp125Asn		26203562	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	CCDS1720.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	35	5.421816	0.96111	.	.	ENSG00000084733	ENST00000264710	D	0.95980	-3.87	5.74	5.74	0.90152	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.98426	4.23	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.99327	1.0908	10	0.87932	D	0	.	17.0461	0.86504	0.0:0.0:1.0:0.0	.	125	P61026	RAB10_HUMAN	N	125	ENSP00000264710:D125N	ENSP00000264710:D125N	D	+	1	0	RAB10	26203562	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.972000	0.93424	2.881000	0.98747	0.644000	0.83932	GAT		0.333	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		Missense_Mutation
CYP26B1	56603	broad.mit.edu	37	2	72371254	72371254	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:72371254C>A	ENST00000001146.2	-	2	496	c.293G>T	c.(292-294)gGc>gTc	p.G98V	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	98					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.G98V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTTCTCCGCGCCGGTCACGCG	0.647																																																1	Substitution - Missense(1)	ovary(1)	2											91.0	83.0	86.0					2																	72371254		2203	4300	6503	72224762	SO:0001583	missense	56603				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.293G>T	2.37:g.72371254C>A	ENSP00000001146:p.Gly98Val		72224762	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	CCDS1919.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665117	0.88251	.	.	ENSG00000003137	ENST00000001146;ENST00000461519	T;T	0.70516	-0.49;-0.49	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.986	D	0.85956	0.1467	10	0.66056	D	0.02	-3.427	15.7678	0.78141	0.0:1.0:0.0:0.0	.	81;98	B7Z2P4;Q9NR63	.;CP26B_HUMAN	V	98;81	ENSP00000001146:G98V;ENSP00000430871:G81V	ENSP00000001146:G98V	G	-	2	0	CYP26B1	72224762	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.243000	0.78219	2.682000	0.91365	0.555000	0.69702	GGC		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		Missense_Mutation
BUB1	699	broad.mit.edu	37	2	111415138	111415138	+	Missense_Mutation	SNP	T	T	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:111415138T>C	ENST00000302759.6	-	14	1719	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	BUB1_ENST00000409311.1_Missense_Mutation_p.N534S|BUB1_ENST00000535254.1_Missense_Mutation_p.N514S	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	534			N -> D (in dbSNP:rs36109304). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N534S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATTTTCTTTGTTTCCATCTTC	0.408																																																1	Substitution - Missense(1)	ovary(1)	2											71.0	68.0	69.0					2																	111415138		2203	4300	6503	111131611	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1601A>G	2.37:g.111415138T>C	ENSP00000302530:p.Asn534Ser		111131611	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	SNP	60	Broad	.	.	.	.	.	.	.	.	.	.	T	11.67	1.709164	0.30322	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.35789	2.05;1.29;2.3	5.89	4.73	0.59995	.	0.306470	0.38897	N	0.001522	T	0.24084	0.0583	L	0.43152	1.355	0.34700	D	0.726634	B;B;B	0.32350	0.131;0.366;0.1	B;B;B	0.24006	0.05;0.032;0.023	T	0.21143	-1.0254	10	0.09590	T	0.72	-23.2649	10.4309	0.44407	0.0:0.0786:0.0:0.9214	.	514;534;534	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	S	514;534;534;534	ENSP00000441013:N514S;ENSP00000386701:N534S;ENSP00000302530:N534S	ENSP00000302530:N534S	N	-	2	0	BUB1	111131611	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.862000	0.39448	2.245000	0.73994	0.455000	0.32223	AAC		0.408	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		Missense_Mutation
CLASP1	23332	broad.mit.edu	37	2	122218678	122218678	+	Splice_Site	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:122218678G>A	ENST00000263710.4	-	11	1420	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	CLASP1_ENST00000541377.1_Splice_Site_p.A344V|CLASP1_ENST00000455322.2_Splice_Site_p.A344V|CLASP1_ENST00000545861.1_Splice_Site_p.A112V|CLASP1_ENST00000397587.3_Splice_Site_p.A344V|CLASP1_ENST00000409078.3_Splice_Site_p.A344V|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Splice_Site_p.A113V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	344					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.A344V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACAGCTTACAGCATTTACTCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											67.0	62.0	64.0					2																	122218678		1824	4087	5911	121935148	SO:0001630	splice_region_variant	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1032+1C>T	2.37:g.122218678G>A			121935148	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452271	0.84209	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989	T;T;T;T;T;T;T;T	0.73575	-0.76;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;0.62	5.22	5.22	0.72569	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.105513	0.64402	D	0.000004	T	0.81842	0.4908	M	0.84326	2.69	0.58432	D	0.999997	P;P;P;P	0.50066	0.669;0.775;0.846;0.931	B;B;P;P	0.51550	0.433;0.356;0.57;0.673	D	0.84739	0.0750	10	0.87932	D	0	.	12.7609	0.57363	0.079:0.0:0.921:0.0	.	344;344;344;344	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	V	344;344;344;344;113;344;112;113	ENSP00000263710:A344V;ENSP00000389372:A344V;ENSP00000380717:A344V;ENSP00000441625:A344V;ENSP00000441770:A113V;ENSP00000386442:A344V;ENSP00000438620:A112V;ENSP00000392886:A113V	ENSP00000263710:A344V	A	-	2	0	CLASP1	121935148	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.781000	0.99029	2.609000	0.88269	0.585000	0.79938	GCT		0.328	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation	Missense_Mutation
FIGN	55137	broad.mit.edu	37	2	164467021	164467021	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:164467021G>T	ENST00000333129.3	-	3	1635	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	441					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.P441T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTTGCATTGGGTGAGAGAGG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											115.0	117.0	116.0					2																	164467021		2149	4251	6400	164175267	SO:0001583	missense	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1321C>A	2.37:g.164467021G>T	ENSP00000333836:p.Pro441Thr		164175267	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	3.664	-0.068943	0.07228	.	.	ENSG00000182263	ENST00000333129	D	0.92099	-2.97	6.04	2.1	0.27182	.	0.357334	0.33005	N	0.005399	T	0.81809	0.4901	N	0.08118	0	0.43852	D	0.99644	B	0.02656	0.0	B	0.01281	0.0	T	0.70288	-0.4913	10	0.39692	T	0.17	-1.6922	11.6091	0.51049	0.0:0.1138:0.4156:0.4706	.	441	Q5HY92	FIGN_HUMAN	T	441	ENSP00000333836:P441T	ENSP00000333836:P441T	P	-	1	0	FIGN	164175267	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	1.514000	0.35834	0.100000	0.17581	-0.261000	0.10672	CCA		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179404667	179404667	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:179404667T>A	ENST00000591111.1	-	302	93426	c.93202A>T	c.(93202-93204)Aga>Tga	p.R31068*	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R23644*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R23769*|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R23836*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R30141*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R32709*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31068	Ig-like 139.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R23644*(1)|p.R30139*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGGTATCTTTCATCAAGT	0.383																																																2	Substitution - Nonsense(2)	ovary(2)	2											100.0	92.0	94.0					2																	179404667		1889	4119	6008	179112913	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93202A>T	2.37:g.179404667T>A	ENSP00000465570:p.Arg31068*		179112913	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	69	108.502262	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7187	0.62714	0.0:0.0:0.1285:0.8715	.	.	.	.	X	30141;23644;23836;23769;23641	.	ENSP00000340554:R23836X	R	-	1	2	TTN	179112913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.203000	0.42752	1.132000	0.42129	-0.316000	0.08728	AGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Nonsense_Mutation
TTN	7273	broad.mit.edu	37	2	179648841	179648841	+	Missense_Mutation	SNP	C	C	T	rs141961878		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:179648841C>T	ENST00000591111.1	-	16	2955	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	TTN_ENST00000460472.2_Missense_Mutation_p.V865I|TTN_ENST00000359218.5_Missense_Mutation_p.V865I|TTN_ENST00000360870.5_Missense_Mutation_p.V911I|TTN_ENST00000342175.6_Missense_Mutation_p.V865I|TTN_ENST00000342992.6_Missense_Mutation_p.V911I|TTN_ENST00000589042.1_Missense_Mutation_p.V911I			Q8WZ42	TITIN_HUMAN	titin	33948					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V911I(2)|p.V865I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCACGGACGGTGGTGCCA	0.552																																																3	Substitution - Missense(3)	ovary(3)	2						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	150.0	120.0	131.0		2593,2593,2731,2731,2593	2.7	0.2	2	dbSNP_134	131	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	865/27119,865/27052,911/5605,911/33424,865/26927	179648841	1,13005	2203	4300	6503	179357086	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2731G>A	2.37:g.179648841C>T	ENSP00000465570:p.Val911Ile		179357086	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288512	0.40494	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64085	-0.08;0.16;0.14;0.13;0.32	5.52	2.74	0.32292	Ribonuclease H-like (1);	.	.	.	.	T	0.49813	0.1579	L	0.32530	0.975	0.09310	N	0.999999	B;B;B;B;B	0.16396	0.001;0.001;0.001;0.01;0.017	B;B;B;B;B	0.12156	0.0;0.0;0.001;0.002;0.007	T	0.45702	-0.9243	9	0.87932	D	0	.	8.793	0.34863	0.0:0.7396:0.1248:0.1356	.	865;865;865;911;911	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	911;865;865;865;865;911	ENSP00000343764:V911I;ENSP00000434586:V865I;ENSP00000340554:V865I;ENSP00000352154:V865I;ENSP00000354117:V911I	ENSP00000340554:V865I	V	-	1	0	TTN	179357086	0.002000	0.14202	0.249000	0.24280	0.218000	0.24690	0.197000	0.17197	0.385000	0.24970	-0.136000	0.14681	GTC		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
MPP4	58538	broad.mit.edu	37	2	202539965	202539965	+	Missense_Mutation	SNP	G	G	A	rs377589827		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr2:202539965G>A	ENST00000409474.3	-	11	1166	c.959C>T	c.(958-960)cCg>cTg	p.P320L	MPP4_ENST00000409143.1_Missense_Mutation_p.P293L|MPP4_ENST00000359962.5_Missense_Mutation_p.P320L|MPP4_ENST00000396886.3_Missense_Mutation_p.P276L|MPP4_ENST00000315506.7_Missense_Mutation_p.P307L|MPP4_ENST00000447335.2_Missense_Mutation_p.P320L|MPP4_ENST00000428900.2_Missense_Mutation_p.P320L	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	320					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.P320L(1)		kidney(1)|lung(11)	12						AGGCTGGTACGGCTGAGACCA	0.458																																																1	Substitution - Missense(1)	ovary(1)	2						G	LEU/PRO	1,3817		0,1,1908	54.0	57.0	56.0		959	4.7	1.0	2		56	0,8218		0,0,4109	no	missense	MPP4	NM_033066.2	98	0,1,6017	AA,AG,GG		0.0,0.0262,0.0083	possibly-damaging	320/638	202539965	1,12035	1909	4109	6018	202248210	SO:0001583	missense	58538			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.959C>T	2.37:g.202539965G>A	ENSP00000387278:p.Pro320Leu		202248210	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879682	0.91740	2.62E-4	0.0	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.65	4.65	0.58169	Src homology-3 domain (1);	0.136430	0.49916	D	0.000127	D	0.90170	0.6928	M	0.69823	2.125	0.80722	D	1	P;B;P;D;P;B;B	0.89917	0.945;0.01;0.909;1.0;0.945;0.157;0.254	P;B;P;D;P;B;B	0.77557	0.678;0.016;0.479;0.99;0.678;0.062;0.062	D	0.89858	0.4014	10	0.42905	T	0.14	.	17.7141	0.88331	0.0:0.0:1.0:0.0	.	293;276;320;320;307;320;320	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8	.;.;.;.;.;.;MPP4_HUMAN	L	320;307;276;320;249;320;293;320	ENSP00000387278:P320L;ENSP00000319363:P307L;ENSP00000353047:P320L;ENSP00000416781:P320L;ENSP00000387293:P293L;ENSP00000406160:P320L	ENSP00000319363:P307L	P	-	2	0	MPP4	202248210	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	9.102000	0.94226	2.418000	0.82041	0.555000	0.69702	CCG		0.458	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			Missense_Mutation
UBOX5	22888	broad.mit.edu	37	20	3102634	3102634	+	Silent	SNP	C	C	T	rs200804274		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr20:3102634C>T	ENST00000217173.2	-	3	1122	c.651G>A	c.(649-651)ctG>ctA	p.L217L	UBOX5_ENST00000348031.2_Silent_p.L217L|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.L217L(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CATCCTGAGGCAGGTTCTCTG	0.602																																																1	Substitution - coding silent(1)	ovary(1)	20											48.0	43.0	45.0					20																	3102634		2203	4300	6503	3050634	SO:0001819	synonymous_variant	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.651G>A	20.37:g.3102634C>T			3050634		Silent	SNP	ENST00000217173.2	37	CCDS13046.1	SNP	25	Broad																																																																																				0.602	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948		Silent
ZNFX1	57169	broad.mit.edu	37	20	47865203	47865203	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr20:47865203A>C	ENST00000396105.1	-	14	4604	c.4358T>G	c.(4357-4359)tTc>tGc	p.F1453C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.F1453C|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1453							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F1453C(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACGCCCTTCGAAGCAGCTGTG	0.577																																																2	Substitution - Missense(2)	ovary(2)	20											46.0	45.0	46.0					20																	47865203		2203	4300	6503	47298610	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4358T>G	20.37:g.47865203A>C	ENSP00000379412:p.Phe1453Cys		47298610	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	SNP	9	Broad	.	.	.	.	.	.	.	.	.	.	A	6.499	0.460269	0.12342	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56611	0.45;0.45	6.07	0.812	0.18744	.	0.235140	0.42964	D	0.000627	T	0.35885	0.0947	L	0.47716	1.5	0.19300	N	0.999973	B	0.09022	0.002	B	0.10450	0.005	T	0.14420	-1.0473	10	0.37606	T	0.19	-8.8831	1.1312	0.01746	0.4726:0.1247:0.1325:0.2701	.	1453	Q9P2E3	ZNFX1_HUMAN	C	1453	ENSP00000360817:F1453C;ENSP00000379412:F1453C	ENSP00000360817:F1453C	F	-	2	0	ZNFX1	47298610	0.049000	0.20398	0.494000	0.27515	0.898000	0.52572	0.519000	0.22862	0.475000	0.27415	0.533000	0.62120	TTC		0.577	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		Missense_Mutation
ZNF70	7621	broad.mit.edu	37	22	24086478	24086478	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr22:24086478G>C	ENST00000341976.3	-	2	1310	c.850C>G	c.(850-852)Ctc>Gtc	p.L284V		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L284V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCCACAGAGATCGCACTCG	0.517																																																1	Substitution - Missense(1)	ovary(1)	22											85.0	79.0	81.0					22																	24086478		2203	4300	6503	22416478	SO:0001583	missense	7621			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.850C>G	22.37:g.24086478G>C	ENSP00000339314:p.Leu284Val		22416478		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	8.958	0.969899	0.18659	.	.	ENSG00000187792	ENST00000341976	T	0.05855	3.38	3.34	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.10685	0.025	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40365	-0.9567	9	0.46703	T	0.11	-24.3909	6.037	0.19712	0.0:0.2126:0.5688:0.2185	.	284	Q9UC06	ZNF70_HUMAN	V	284	ENSP00000339314:L284V	ENSP00000339314:L284V	L	-	1	0	ZNF70	22416478	0.000000	0.05858	0.663000	0.29738	0.908000	0.53690	0.058000	0.14301	0.930000	0.37217	0.456000	0.33151	CTC		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		Missense_Mutation
EWSR1	2130	broad.mit.edu	37	22	29692304	29692304	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr22:29692304A>G	ENST00000397938.2	+	12	1559	c.1240A>G	c.(1240-1242)Aca>Gca	p.T414A	EWSR1_ENST00000331029.7_Missense_Mutation_p.T376A|EWSR1_ENST00000406548.1_Missense_Mutation_p.T413A|EWSR1_ENST00000332050.6_Missense_Mutation_p.T341A|EWSR1_ENST00000332035.6_Missense_Mutation_p.T358A|EWSR1_ENST00000414183.2_Missense_Mutation_p.T419A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	414	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T414A(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCGATGCCACAGTGTCCTA	0.478			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	1	Substitution - Missense(1)	ovary(1)	22											115.0	91.0	99.0					22																	29692304		2203	4300	6503	28022304	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1240A>G	22.37:g.29692304A>G	ENSP00000381031:p.Thr414Ala		28022304	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	SNP	6	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.033498|4.033498	0.75504|0.75504	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|T;T;T;T;T;T	.|0.74209	.|1.31;-0.82;-0.82;-0.82;-0.82;-0.82	5.48|5.48	4.44|4.44	0.53790|0.53790	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.81659|0.81659	0.4869|0.4869	M|M	0.71581|0.71581	2.175|2.175	0.54753|0.54753	D|D	0.999985|0.999985	.|B;B;B;B;B	.|0.28584	.|0.106;0.216;0.106;0.165;0.053	.|B;P;B;B;P	.|0.47346	.|0.414;0.544;0.414;0.255;0.462	T|T	0.80848|0.80848	-0.1199|-0.1199	5|10	.|0.72032	.|D	.|0.01	.|.	11.7703|11.7703	0.51953|0.51953	0.868:0.0:0.0:0.132|0.868:0.0:0.0:0.132	.|.	.|358;413;358;419;414	.|Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.|.;.;.;.;EWS_HUMAN	R|A	69|341;414;413;376;419;358	.|ENSP00000330896:T341A;ENSP00000381031:T414A;ENSP00000385726:T413A;ENSP00000330516:T376A;ENSP00000400142:T419A;ENSP00000331699:T358A	.|ENSP00000330516:T376A	H|T	+|+	2|1	0|0	EWSR1|EWSR1	28022304|28022304	1.000000|1.000000	0.71417|0.71417	0.559000|0.559000	0.28332|0.28332	0.964000|0.964000	0.63967|0.63967	8.930000|8.930000	0.92872|0.92872	0.878000|0.878000	0.35920|0.35920	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.478	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		Missense_Mutation
ZNF621	285268	broad.mit.edu	37	3	40573881	40573881	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr3:40573881A>G	ENST00000339296.5	+	5	1072	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.Y207C|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.Y96C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y207C(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GAAGGGCCCTATGAATGTAAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	3											93.0	92.0	93.0					3																	40573881		2203	4300	6503	40548885	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.620A>G	3.37:g.40573881A>G	ENSP00000340841:p.Tyr207Cys		40548885	Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	a	13.22	2.170969	0.38315	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.25414	1.8;1.8;1.8	4.07	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37178	N	0.002206	T	0.48409	0.1498	M	0.86953	2.85	0.80722	D	1	P;D	0.89917	0.56;1.0	B;D	0.91635	0.233;0.999	T	0.47182	-0.9137	10	0.72032	D	0.01	.	3.6392	0.08161	0.7046:0.0:0.1041:0.1913	.	96;207	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	207;207;96	ENSP00000386051:Y207C;ENSP00000340841:Y207C;ENSP00000413236:Y96C	ENSP00000340841:Y207C	Y	+	2	0	ZNF621	40548885	0.116000	0.22171	0.918000	0.36340	0.788000	0.44548	0.755000	0.26405	0.896000	0.36366	-0.290000	0.09829	TAT		0.438	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		Missense_Mutation
HHATL	57467	broad.mit.edu	37	3	42738341	42738341	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr3:42738341G>T	ENST00000441594.1	-	9	1300	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	HHATL_ENST00000310417.5_Missense_Mutation_p.L347I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	347					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.L347I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CACTTGCAAAGCCAGTCGTTG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3											54.0	45.0	48.0					3																	42738341		2203	4300	6503	42713345	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1039C>A	3.37:g.42738341G>T	ENSP00000405423:p.Leu347Ile		42713345	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	SNP	34	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.6|25.6	4.652958|4.652958	0.88056|0.88056	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000426666|ENST00000310417;ENST00000441594	.|D;D	.|0.84800	.|-1.9;-1.9	4.21|4.21	4.21|4.21	0.49690|0.49690	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92338|0.92338	0.7569|0.7569	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.74348	.|0.983	D|D	0.91763|0.91763	0.5421|0.5421	5|10	.|0.30078	.|T	.|0.28	-12.8595|-12.8595	16.9647|16.9647	0.86282|0.86282	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|347	.|Q9HCP6	.|HHATL_HUMAN	D|I	43|347	.|ENSP00000310621:L347I;ENSP00000405423:L347I	.|ENSP00000310621:L347I	A|L	-|-	2|1	0|0	HHATL|HHATL	42713345|42713345	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	4.718000|4.718000	0.61930|0.61930	2.056000|2.056000	0.61249|0.61249	0.550000|0.550000	0.68814|0.68814	GCT|CTT		0.572	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		Missense_Mutation
MANF	7873	broad.mit.edu	37	3	51426479	51426479	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr3:51426479A>C	ENST00000528157.1	+	4	804	c.508A>C	c.(508-510)Aaa>Caa	p.K170Q	RBM15B_ENST00000323686.4_5'Flank|MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	170					response to unfolded protein (GO:0006986)|vasoconstriction of artery involved in ischemic response to lowering of systemic arterial blood pressure (GO:0002014)	extracellular space (GO:0005615)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.K173Q(1)|p.K170Q(1)		lung(1)|ovary(1)	2						ACTGATGCCTAAATATGCCCC	0.473											OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - Missense(2)	ovary(2)	3											34.0	36.0	35.0					3																	51426479		1926	4129	6055	51401519	SO:0001583	missense	7873			M83751	CCDS46836.1, CCDS46836.2	3p21.1	2010-12-09	2009-06-04	2009-06-04	ENSG00000145050	ENSG00000145050			15461	protein-coding gene	gene with protein product		601916	"""arginine-rich, mutated in early stage tumors"""	ARMET		12794311	Standard	NM_006010		Approved	ARP	uc003dbc.3	P55145	OTTHUMG00000156897	ENST00000528157.1:c.508A>C	3.37:g.51426479A>C	ENSP00000432799:p.Lys170Gln	977	51401519	Q14CX4|Q86U67|Q96IS4	Missense_Mutation	SNP	ENST00000528157.1	37	CCDS46836.2	SNP	13	Broad	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787097	0.90367	.	.	ENSG00000145050	ENST00000528157;ENST00000273628	.	.	.	5.7	5.7	0.88788	.	0.101407	0.64402	D	0.000003	T	0.72128	0.3422	M	0.81497	2.545	0.80722	D	1	B	0.30439	0.279	B	0.34722	0.188	T	0.73920	-0.3830	9	0.62326	D	0.03	.	15.9765	0.80071	1.0:0.0:0.0:0.0	.	170	P55145	MANF_HUMAN	Q	170;173	.	ENSP00000273628:K173Q	K	+	1	0	MANF	51401519	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.079000	0.76829	2.172000	0.68678	0.533000	0.62120	AAA		0.473	MANF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346490.3	NM_006010		Missense_Mutation
ODAM	54959	broad.mit.edu	37	4	71064329	71064329	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr4:71064329C>G	ENST00000396094.2	+	5	457	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	137	Gln-rich.				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.Q137E(1)|p.Q137*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAAAATGCCTCAAGAGCAAGG	0.378																																																2	Substitution - Nonsense(1)|Substitution - Missense(1)	ovary(1)|breast(1)	4											119.0	116.0	117.0					4																	71064329		2203	4300	6503	71098918	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.409C>G	4.37:g.71064329C>G	ENSP00000379401:p.Gln137Glu		71098918	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375412	0.42105	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.52983	0.64;0.64	4.82	4.82	0.62117	.	0.000000	0.44688	D	0.000422	T	0.54759	0.1878	L	0.55481	1.735	0.26801	N	0.969208	D	0.60160	0.987	P	0.54499	0.754	T	0.50558	-0.8814	10	0.41790	T	0.15	-1.0321	13.5877	0.61942	0.0:1.0:0.0:0.0	.	137	A1E959	ODAM_HUMAN	E	137;123;90	ENSP00000379401:Q137E;ENSP00000426106:Q90E	ENSP00000379401:Q137E	Q	+	1	0	ODAM	71098918	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	1.259000	0.32956	2.667000	0.90743	0.455000	0.32223	CAA		0.378	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		Missense_Mutation
PLAC8	51316	broad.mit.edu	37	4	84026174	84026174	+	Splice_Site	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr4:84026174C>A	ENST00000509973.1	-	2	71		c.e2-1		PLAC8_ENST00000311507.4_Splice_Site|PLAC8_ENST00000505406.1_Splice_Site|PLAC8_ENST00000411416.2_Splice_Site|PLAC8_ENST00000426923.2_Splice_Site|PLAC8_ENST00000515389.1_Intron			Q9UHV8	PP13_HUMAN	placenta-specific 8						apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.?(1)		large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CCACAGAGACCTAGACACATG	0.498																																																1	Unknown(1)	ovary(1)	4											70.0	60.0	63.0					4																	84026174		2203	4300	6503	84245198	SO:0001630	splice_region_variant	51316			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.53-1G>T	4.37:g.84026174C>A			84245198	C5HZ15	Splice_Site_SNP	SNP	ENST00000509973.1	37		SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058373	0.36277	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000505406;ENST00000426923	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3879	0.83522	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLAC8	84245198	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	4.928000	0.63447	2.676000	0.91093	0.561000	0.74099	.		0.498	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619	Intron	Splice_Site_SNP
KIAA1109	84162	broad.mit.edu	37	4	123132179	123132179	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr4:123132179G>C	ENST00000264501.4	+	20	2549	c.2176G>C	c.(2176-2178)Gaa>Caa	p.E726Q	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E726Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E726Q			Q2LD37	K1109_HUMAN	KIAA1109	726					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E726Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTCATGTAGAAATGGAACT	0.393																																																1	Substitution - Missense(1)	ovary(1)	4											101.0	92.0	95.0					4																	123132179		1830	4087	5917	123351629	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2176G>C	4.37:g.123132179G>C	ENSP00000264501:p.Glu726Gln		123351629	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	SNP	33	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.719538|4.719538	0.89205|0.89205	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.30714|.	2.11;2.11;1.52|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	24.190000|.	0.00166|.	U|.	0.000001|.	T|T	0.76456|0.76456	0.3990|0.3990	M|M	0.73962|0.73962	2.25|2.25	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.993|.	D;D|.	0.85130|.	0.997;0.979|.	T|T	0.76697|0.76697	-0.2864|-0.2864	10|5	0.62326|.	D|.	0.03|.	.|.	18.593|18.593	0.91220|0.91220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	726;726|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	Q|T	726|558	ENSP00000264501:E726Q;ENSP00000373390:E726Q;ENSP00000389925:E726Q|.	ENSP00000264501:E726Q|.	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123351629|123351629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.064000|9.064000	0.93933|0.93933	2.462000|2.462000	0.83206|0.83206	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		Missense_Mutation
MROH2B	133558	broad.mit.edu	37	5	41033155	41033155	+	Silent	SNP	A	A	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr5:41033155A>T	ENST00000399564.4	-	23	2799	c.2349T>A	c.(2347-2349)atT>atA	p.I783I	MROH2B_ENST00000506092.2_Silent_p.I338I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	783								p.I783I(1)									GCATGTAACCAATCAGCATCT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	5											122.0	112.0	115.0					5																	41033155		2009	4174	6183	41068912	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2349T>A	5.37:g.41033155A>T			41068912	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	CCDS47202.1	SNP	5	Broad																																																																																				0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		Silent
TRIM36	55521	broad.mit.edu	37	5	114469588	114469588	+	Silent	SNP	T	T	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr5:114469588T>C	ENST00000282369.3	-	8	1624	c.1503A>G	c.(1501-1503)agA>agG	p.R501R	TRIM36_ENST00000513154.1_Silent_p.R489R|TRIM36_ENST00000514154.1_Silent_p.R346R	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	501	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R501R(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAATCAATTCTCTGCTGCAAG	0.368																																																1	Substitution - coding silent(1)	ovary(1)	5											98.0	91.0	94.0					5																	114469588		2202	4300	6502	114497487	SO:0001819	synonymous_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1503A>G	5.37:g.114469588T>C			114497487	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	ENST00000282369.3	37	CCDS4115.1	SNP	54	Broad																																																																																				0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		Silent
HSD17B4	3295	broad.mit.edu	37	5	118835234	118835234	+	Missense_Mutation	SNP	A	A	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr5:118835234A>G	ENST00000256216.6	+	13	1328	c.1195A>G	c.(1195-1197)Atc>Gtc	p.I399V	HSD17B4_ENST00000510025.1_Missense_Mutation_p.I375V|HSD17B4_ENST00000504811.1_Missense_Mutation_p.I424V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.I262V|HSD17B4_ENST00000414835.2_Missense_Mutation_p.I259V|HSD17B4_ENST00000515320.1_Missense_Mutation_p.I381V|HSD17B4_ENST00000509514.1_Missense_Mutation_p.I137V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	399	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I399V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGGACTTTCAATCAACTTTGC	0.333																																					Colon(35;490 801 34689 41394 43344)											1	Substitution - Missense(1)	ovary(1)	5											114.0	125.0	121.0					5																	118835234		2202	4300	6502	118863133	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1195A>G	5.37:g.118835234A>G	ENSP00000256216:p.Ile399Val		118863133	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899782	0.17686	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.49	-7.72	0.01250	.	0.334930	0.36034	N	0.002821	T	0.54631	0.1870	N	0.25201	0.72	0.41084	D	0.985548	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.19778	-1.0295	10	0.21014	T	0.42	-1.4753	3.9434	0.09338	0.4319:0.1039:0.3637:0.1005	.	424;381;375;137;399	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	V	399;381;375;424;259;262;137	ENSP00000256216:I399V;ENSP00000424613:I381V;ENSP00000424940:I375V;ENSP00000420914:I424V;ENSP00000411960:I259V;ENSP00000425993:I262V;ENSP00000426272:I137V	ENSP00000256216:I399V	I	+	1	0	HSD17B4	118863133	0.052000	0.20516	0.458000	0.27068	0.917000	0.54804	-0.019000	0.12546	-1.837000	0.01189	-0.385000	0.06624	ATC		0.333	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		Missense_Mutation
GRIA1	2890	broad.mit.edu	37	5	153190758	153190758	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr5:153190758G>A	ENST00000285900.5	+	16	3037	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G	GRIA1_ENST00000448073.4_Silent_p.G908G|GRIA1_ENST00000518783.1_Silent_p.G908G|GRIA1_ENST00000518142.1_Silent_p.G818G|GRIA1_ENST00000521843.2_Silent_p.G829G|GRIA1_ENST00000340592.5_Silent_p.G898G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	898					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G898G(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACAGTTCAGGGATGCCCTTGG	0.607																																																1	Substitution - coding silent(1)	ovary(1)	5											49.0	45.0	47.0					5																	153190758		2203	4300	6503	153170951	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2694G>A	5.37:g.153190758G>A			153170951	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1	SNP	41	Broad																																																																																				0.607	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			Silent
GABRA6	2559	broad.mit.edu	37	5	161128619	161128619	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr5:161128619C>T	ENST00000274545.5	+	9	1635	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	GABRA6_ENST00000523217.1_Missense_Mutation_p.P391L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	401					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P401L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAATCAACACCTGTCACACCC	0.463										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											110.0	104.0	106.0					5																	161128619		2203	4300	6503	161061197	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1202C>T	5.37:g.161128619C>T	ENSP00000274545:p.Pro401Leu		161061197	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728797	0.15507	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.82984	-1.67;-1.67	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.679458	0.15509	N	0.258620	T	0.71863	0.3390	N	0.22421	0.69	0.21184	N	0.999768	B	0.02656	0.0	B	0.06405	0.002	T	0.59467	-0.7449	10	0.39692	T	0.17	.	10.1517	0.42799	0.2484:0.6257:0.1259:0.0	.	401	Q16445	GBRA6_HUMAN	L	401;391	ENSP00000274545:P401L;ENSP00000430527:P391L	ENSP00000274545:P401L	P	+	2	0	GABRA6	161061197	0.492000	0.26027	0.987000	0.45799	0.200000	0.23975	3.174000	0.50847	2.571000	0.86741	0.655000	0.94253	CCT		0.463	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			Missense_Mutation
HLA-G	3135	broad.mit.edu	37	6	29797596	29797596	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr6:29797596A>C	ENST00000360323.6	+	5	923	c.899A>C	c.(898-900)cAg>cCg	p.Q300P	HLA-G_ENST00000428701.1_Missense_Mutation_p.Q300P|HLA-G_ENST00000376815.3_Missense_Mutation_p.Q116P|HLA-G_ENST00000376828.2_Missense_Mutation_p.Q305P|HLA-G_ENST00000376818.3_Missense_Mutation_p.Q208P			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	300	Connecting peptide.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Q300P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCCAGAGCAGTCTTCCCTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	6											99.0	83.0	89.0					6																	29797596		2203	4300	6503	29905575	SO:0001583	missense	3135				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.899A>C	6.37:g.29797596A>C	ENSP00000353472:p.Gln300Pro		29905575		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.102057	0.00360	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00640	6.21;6.19;6.19;6.03;6.17	2.04	2.04	0.26737	Immunoglobulin-like fold (1);	0.183777	0.25854	N	0.027870	T	0.00039	0.0001	N	0.00006	-3.195	0.09310	N	1	B;B;B;B	0.32396	0.369;0.0;0.0;0.0	B;B;B;B	0.32677	0.15;0.0;0.0;0.0	T	0.04386	-1.0955	10	0.02654	T	1	.	6.0336	0.19694	0.3058:0.6942:0.0:0.0	.	116;305;208;300	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	P	305;300;300;208;116	ENSP00000366024:Q305P;ENSP00000412927:Q300P;ENSP00000353472:Q300P;ENSP00000366014:Q208P;ENSP00000366011:Q116P	ENSP00000353472:Q300P	Q	+	2	0	HLA-G	29905575	0.000000	0.05858	0.006000	0.13384	0.025000	0.11179	-0.221000	0.09202	0.006000	0.14734	-0.778000	0.03378	CAG		0.587	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		Missense_Mutation
DNAH8	1769	broad.mit.edu	37	6	38867667	38867667	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr6:38867667A>C	ENST00000359357.3	+	60	8782	c.8528A>C	c.(8527-8529)cAg>cCg	p.Q2843P	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q2807P|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q3060P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2843	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q2843P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAATATTCCAGATAACATTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	6																																								38975645	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8528A>C	6.37:g.38867667A>C	ENSP00000352312:p.Gln2843Pro		38975645	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552174	0.86127	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54279	0.58;0.58;0.58	6.17	6.17	0.99709	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88311	0.2956	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2843	Q96JB1	DYH8_HUMAN	P	3048;3048;2843;2807	ENSP00000333363:Q3048P;ENSP00000352312:Q2843P;ENSP00000402294:Q2807P	ENSP00000333363:Q3048P	Q	+	2	0	DNAH8	38975645	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.268000	0.95675	2.371000	0.80710	0.533000	0.62120	CAG		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		Missense_Mutation
GPR63	81491	broad.mit.edu	37	6	97247257	97247257	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr6:97247257G>A	ENST00000229955.3	-	2	696	c.351C>T	c.(349-351)aaC>aaT	p.N117N	GPR63_ENST00000417980.1_Silent_p.N117N	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.N117N(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CAAGGAGGATGTTAATTGCAG	0.428																																																1	Substitution - coding silent(1)	ovary(1)	6											85.0	85.0	85.0					6																	97247257		2203	4300	6503	97353978	SO:0001819	synonymous_variant	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.351C>T	6.37:g.97247257G>A			97353978	Q9UJH3	Silent	SNP	ENST00000229955.3	37	CCDS5036.1	SNP	48	Broad																																																																																				0.428	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			Silent
SYNE1	23345	broad.mit.edu	37	6	152590381	152590381	+	Missense_Mutation	SNP	G	G	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr6:152590381G>T	ENST00000367255.5	-	99	19215	c.18614C>A	c.(18613-18615)aCa>aAa	p.T6205K	SYNE1_ENST00000341594.5_Missense_Mutation_p.T5817K|SYNE1_ENST00000423061.1_Missense_Mutation_p.T6134K|SYNE1_ENST00000448038.1_Missense_Mutation_p.T6134K|SYNE1_ENST00000265368.4_Missense_Mutation_p.T6205K|SYNE1_ENST00000356820.4_Missense_Mutation_p.T729K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6205					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.T6205K(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)		CTGCGTGGCTGTTAGGTCAAC	0.547										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											161.0	125.0	137.0					6																	152590381		2203	4300	6503	152632074	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.18614C>A	6.37:g.152590381G>T	ENSP00000356224:p.Thr6205Lys		152632074	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	48	Broad	.	.	.	.	.	.	.	.	.	.	G	5.047	0.194388	0.09599	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.52057	0.77;0.77;0.68;0.77;0.87;0.99	5.57	0.61	0.17580	.	0.978808	0.08384	N	0.953997	T	0.13841	0.0335	L	0.47716	1.5	0.09310	N	1	B;B;B	0.31383	0.134;0.134;0.321	B;B;B	0.29942	0.051;0.051;0.109	T	0.26360	-1.0105	10	0.18276	T	0.48	.	2.247	0.04033	0.3157:0.1184:0.4449:0.1211	.	6205;6205;6134	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	6205;6134;6205;6134;5817;729	ENSP00000356224:T6205K;ENSP00000396024:T6134K;ENSP00000265368:T6205K;ENSP00000390975:T6134K;ENSP00000341887:T5817K;ENSP00000349276:T729K	ENSP00000265368:T6205K	T	-	2	0	SYNE1	152632074	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.536000	0.23129	-0.102000	0.12197	-0.140000	0.14226	ACA		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		Missense_Mutation
LPA	4018	broad.mit.edu	37	6	160977189	160977189	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr6:160977189C>T	ENST00000316300.5	-	30	4885	c.4841G>A	c.(4840-4842)cGg>cAg	p.R1614Q	LPA_ENST00000447678.1_Missense_Mutation_p.R1614Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTAGCACTGCCGGACCACAGG	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											110.0	113.0	112.0					6																	160977189		2165	4296	6461	160897179	SO:0001583	missense	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4841G>A	6.37:g.160977189C>T	ENSP00000321334:p.Arg1614Gln		160897179	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.309139	0.00237	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62232	0.04;0.04	2.6	1.38	0.22167	Kringle (2);Kringle-like fold (1);	.	.	.	.	T	0.05593	0.0147	N	0.00686	-1.255	0.18873	N	0.999986	P	0.36535	0.557	B	0.27262	0.078	T	0.15435	-1.0437	9	0.09084	T	0.74	.	2.2969	0.04153	0.2193:0.2679:0.0:0.5129	.	4122	P08519	APOA_HUMAN	Q	1614	ENSP00000321334:R1614Q;ENSP00000395608:R1614Q	ENSP00000321334:R1614Q	R	-	2	0	LPA	160897179	0.994000	0.37717	0.951000	0.38953	0.042000	0.13812	1.672000	0.37523	0.226000	0.20979	-0.979000	0.02580	CGG		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		Missense_Mutation
CARD11	84433	broad.mit.edu	37	7	2968267	2968267	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr7:2968267G>A	ENST00000396946.4	-	13	2122	c.1719C>T	c.(1717-1719)atC>atT	p.I573I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	573					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.I566I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCGTCTGACGATGGAGTCGT	0.642			Mis		DLBCL																																		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - coding silent(1)	ovary(1)	7											88.0	77.0	81.0					7																	2968267		2203	4300	6503	2934793	SO:0001819	synonymous_variant	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1719C>T	7.37:g.2968267G>A			2934793	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2	SNP	37	Broad																																																																																				0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		Silent
CHPF2	54480	broad.mit.edu	37	7	150933500	150933500	+	Missense_Mutation	SNP	C	C	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr7:150933500C>A	ENST00000035307.2	+	3	2348	c.835C>A	c.(835-837)Cag>Aag	p.Q279K	CHPF2_ENST00000495645.1_Missense_Mutation_p.Q271K|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	279					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.Q279K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTAGGGGCAGCAGTATCGCTC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											85.0	74.0	78.0					7																	150933500		2203	4300	6503	150564433	SO:0001583	missense	54480			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.835C>A	7.37:g.150933500C>A	ENSP00000035307:p.Gln279Lys		150564433	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	CCDS34779.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	9.803	1.181029	0.21787	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.14893	2.47;2.47	5.58	5.58	0.84498	.	0.577132	0.20236	N	0.096395	T	0.13243	0.0321	N	0.22421	0.69	0.58432	D	0.999991	B;B	0.30851	0.297;0.001	B;B	0.34452	0.183;0.002	T	0.02275	-1.1184	10	0.02654	T	1	-10.0419	18.5486	0.91055	0.0:1.0:0.0:0.0	.	279;271	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	K	271;279;279	ENSP00000418914:Q271K;ENSP00000035307:Q279K	ENSP00000035307:Q279K	Q	+	1	0	CHPF2	150564433	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	1.235000	0.32671	2.631000	0.89168	0.655000	0.94253	CAG		0.527	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		Missense_Mutation
PTPRN2	5799	broad.mit.edu	37	7	157874041	157874041	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr7:157874041C>T	ENST00000389418.4	-	11	1681	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	PTPRN2_ENST00000389416.4_Missense_Mutation_p.V541M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V520M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V581M|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V529M	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	558					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V558M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTGGCGCTCACTTTGAAGGTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											301.0	212.0	242.0					7																	157874041		2203	4300	6503	157566802	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1672G>A	7.37:g.157874041C>T	ENSP00000374069:p.Val558Met		157566802	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132425	0.37630	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.05786	3.42;3.67;3.4;3.42;3.39	5.06	4.17	0.49024	.	0.464362	0.14485	U	0.316708	T	0.20292	0.0488	L	0.52573	1.65	0.32210	N	0.576637	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.99;0.994;0.99;0.986;0.994	T	0.08700	-1.0709	10	0.87932	D	0	.	14.3595	0.66761	0.0:0.851:0.149:0.0	.	581;520;529;541;558	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	M	520;529;541;558;581	ENSP00000387114:V520M;ENSP00000374064:V529M;ENSP00000374067:V541M;ENSP00000374069:V558M;ENSP00000385464:V581M	ENSP00000374064:V529M	V	-	1	0	PTPRN2	157566802	1.000000	0.71417	0.319000	0.25293	0.044000	0.14063	1.771000	0.38542	1.131000	0.42111	0.650000	0.86243	GTG		0.502	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			Missense_Mutation
NCAPG2	54892	broad.mit.edu	37	7	158476049	158476049	+	Silent	SNP	G	G	A			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr7:158476049G>A	ENST00000409423.1	-	10	1039	c.867C>T	c.(865-867)ttC>ttT	p.F289F	NCAPG2_ENST00000449727.2_Silent_p.F289F|NCAPG2_ENST00000275830.10_Silent_p.F81F|NCAPG2_ENST00000409339.3_Silent_p.F289F|NCAPG2_ENST00000356309.3_Silent_p.F289F	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	289					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.F289F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CGTGGAACATGAAGTCCTGGA	0.458																																																1	Substitution - coding silent(1)	ovary(1)	7											162.0	158.0	159.0					7																	158476049		1935	4138	6073	158168810	SO:0001819	synonymous_variant	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.867C>T	7.37:g.158476049G>A			158168810	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	CCDS43686.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095040	0.20471	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.5	2.58	0.30949	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45833	-0.9234	4	.	.	.	-4.7531	7.3466	0.26666	0.1383:0.2615:0.6002:0.0	.	.	.	.	L	91	.	.	S	-	2	0	NCAPG2	158168810	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	0.857000	0.27831	0.319000	0.23209	0.655000	0.94253	TCA		0.458	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		Silent
CSMD3	114788	broad.mit.edu	37	8	113358402	113358402	+	Missense_Mutation	SNP	G	G	C	rs139487815	byFrequency	TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr8:113358402G>C	ENST00000297405.5	-	41	6610	c.6366C>G	c.(6364-6366)atC>atG	p.I2122M	CSMD3_ENST00000352409.3_Missense_Mutation_p.I2052M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2082M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2018M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2122	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I2122M(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						CAGGACTGAGGATCACACCAC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											111.0	112.0	112.0					8																	113358402		2203	4300	6503	113427578	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.6366C>G	8.37:g.113358402G>C	ENSP00000297405:p.Ile2122Met		113427578	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187682	0.57909	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.44	1.21	0.21127	CUB (5);	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	M	0.92459	3.31	0.43408	D	0.995543	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.981	T	0.61247	-0.7101	10	0.72032	D	0.01	.	4.3492	0.11148	0.3625:0.0:0.3939:0.2437	.	2018;2122;2082	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	2082;2122;1392;2018;2052	ENSP00000345799:I2082M;ENSP00000297405:I2122M;ENSP00000341558:I1392M;ENSP00000412263:I2018M;ENSP00000343124:I2052M	ENSP00000297405:I2122M	I	-	3	3	CSMD3	113427578	1.000000	0.71417	0.983000	0.44433	0.962000	0.63368	0.829000	0.27449	0.035000	0.15519	0.650000	0.86243	ATC		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		Missense_Mutation
C5	727	broad.mit.edu	37	9	123739086	123739086	+	Silent	SNP	G	G	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr9:123739086G>C	ENST00000223642.1	-	29	3785	c.3756C>G	c.(3754-3756)gcC>gcG	p.A1252A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1252					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A1252A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTAAAGCATAGGCAGTTGTTT	0.403																																																1	Substitution - coding silent(1)	ovary(1)	9											174.0	154.0	161.0					9																	123739086		2203	4300	6503	122778907	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3756C>G	9.37:g.123739086G>C			122778907	Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	CCDS6826.1	SNP	35	Broad																																																																																				0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		Silent
NTNG2	84628	broad.mit.edu	37	9	135073452	135073452	+	Missense_Mutation	SNP	A	A	C			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr9:135073452A>C	ENST00000393229.3	+	3	1089	c.313A>C	c.(313-315)Acc>Ccc	p.T105P	NTNG2_ENST00000393228.4_Missense_Mutation_p.T105P|NTNG2_ENST00000372179.3_Missense_Mutation_p.T105P|NTNG2_ENST00000360670.3_Missense_Mutation_p.T105P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	105	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.T105P(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGCCTGGCCACCTACTGGCA	0.632																																																1	Substitution - Missense(1)	ovary(1)	9											70.0	64.0	66.0					9																	135073452		2203	4300	6503	134063273	SO:0001583	missense	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.313A>C	9.37:g.135073452A>C	ENSP00000376921:p.Thr105Pro		134063273	Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	CCDS6946.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299850	0.81136	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.42131	1.95;0.98;0.98;1.95	5.0	5.0	0.66597	Laminin, N-terminal (3);	0.125962	0.51477	D	0.000081	T	0.69142	0.3078	M	0.89163	3.01	0.49582	D	0.999801	D	0.89917	1.0	D	0.87578	0.998	T	0.75903	-0.3153	10	0.66056	D	0.02	.	13.885	0.63704	1.0:0.0:0.0:0.0	.	105	Q96CW9	NTNG2_HUMAN	P	105	ENSP00000376921:T105P;ENSP00000376920:T105P;ENSP00000353888:T105P;ENSP00000361252:T105P	ENSP00000353888:T105P	T	+	1	0	NTNG2	134063273	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.297000	0.96120	1.874000	0.54306	0.379000	0.24179	ACC		0.632	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		Missense_Mutation
NOTCH1	4851	broad.mit.edu	37	9	139396504	139396504	+	Silent	SNP	G	G	A	rs376590737		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chr9:139396504G>A	ENST00000277541.6	-	29	5496	c.5421C>T	c.(5419-5421)gaC>gaT	p.D1807D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1807					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1807D(1)|p.D1808D(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGGTTGTCGTCCATGAGGG	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	2	Substitution - coding silent(2)	ovary(2)	9						A		1,3857		0,1,1928	70.0	78.0	75.0		5421	-5.5	0.9	9		75	1,8243		0,1,4121	no	coding-synonymous	NOTCH1	NM_017617.3		0,2,6049	AA,AG,GG		0.0121,0.0259,0.0165		1807/2556	139396504	2,12100	1929	4122	6051	138516325	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5421C>T	9.37:g.139396504G>A			138516325	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1	SNP	40	Broad																																																																																				0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		Silent
ACRC	93953	broad.mit.edu	37	X	70824340	70824340	+	Missense_Mutation	SNP	C	C	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chrX:70824340C>G	ENST00000373695.1	+	7	1750	c.1213C>G	c.(1213-1215)Cct>Gct	p.P405A	ACRC_ENST00000373696.3_Missense_Mutation_p.P405A			Q96QF7	ACRC_HUMAN	acidic repeat containing	405						nucleus (GO:0005634)		p.P405A(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGAGCCTGCACCTGTGGTGGA	0.478																																																1	Substitution - Missense(1)	ovary(1)	X											45.0	32.0	36.0					X																	70824340		2203	4300	6503	70741065	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1213C>G	X.37:g.70824340C>G	ENSP00000362799:p.Pro405Ala		70741065	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	8.218	0.801900	0.16397	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.51071	0.72;0.72	3.5	-2.84	0.05751	.	.	.	.	.	T	0.26159	0.0638	L	0.27053	0.805	0.09310	N	1	P	0.38504	0.634	B	0.33121	0.158	T	0.09907	-1.0653	9	0.46703	T	0.11	.	4.4776	0.11752	0.1732:0.2198:0.0:0.607	.	405	Q96QF7	ACRC_HUMAN	A	405	ENSP00000362800:P405A;ENSP00000362799:P405A	ENSP00000362799:P405A	P	+	1	0	ACRC	70741065	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.580000	0.02121	-0.817000	0.04335	-1.325000	0.01285	CCT		0.478	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			Missense_Mutation
COL4A5	1287	broad.mit.edu	37	X	107858228	107858229	+	Missense_Mutation	DNP	GG	GG	AT	rs281874695		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chrX:107858228_107858229GG>AT	ENST00000361603.2	+	30	2727_2728	c.2483_2484GG>AT	c.(2482-2484)gGG>gAT	p.G828D	COL4A5_ENST00000328300.6_Missense_Mutation_p.G828D	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	828	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G828D(1)|p.G828G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACCACCAGGGATTCCTGGGC	0.441									Alport syndrome with Diffuse Leiomyomatosis																																							2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|endometrium(1)	X																																								107744885	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	Exception_encountered	X.37:g.107858228_107858229delinsAT	ENSP00000354505:p.Gly828Asp		107744884	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	DNP	ENST00000361603.2	37	CCDS14543.1	DNP	43	Broad																																																																																				0.441	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			Missense_Mutation
AIFM1	9131	broad.mit.edu	37	X	129263595	129263595	+	Missense_Mutation	SNP	C	C	G	rs200543681		TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-29-2427-01	TCGA-29-2427-10	g.chrX:129263595C>G	ENST00000287295.3	-	16	2009	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.K306N|AIFM1_ENST00000319908.3_Missense_Mutation_p.K589N|AIFM1_ENST00000440263.1_Missense_Mutation_p.K241N|AIFM1_ENST00000460436.2_Missense_Mutation_p.K254N	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	593					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.K589N(1)|p.K593N(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GCTCACCGTCCTTAATGATCT	0.502																																																2	Substitution - Missense(2)	ovary(2)	X											183.0	150.0	161.0					X																	129263595		2203	4300	6503	129091276	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1779G>C	X.37:g.129263595C>G	ENSP00000287295:p.Lys593Asn		129091276	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	c	10.66	1.413511	0.25465	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.83335	0.92;0.92;-1.71;0.92;-0.71	5.01	3.18	0.36537	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.45051	1.395	0.80722	D	1	B;P;P	0.38617	0.209;0.64;0.508	B;B;B	0.29663	0.023;0.105;0.049	T	0.65656	-0.6115	10	0.29301	T	0.29	-13.712	8.0493	0.30568	0.0:0.6554:0.0:0.3446	.	306;589;593	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	N	254;306;589;241;593	ENSP00000431222:K254N;ENSP00000316320:K306N;ENSP00000315122:K589N;ENSP00000405879:K241N;ENSP00000287295:K593N	ENSP00000287295:K593N	K	-	3	2	AIFM1	129091276	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.540000	0.23191	1.079000	0.41038	0.591000	0.81541	AAG		0.502	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			Missense_Mutation
FAM167B	84734	broad.mit.edu	37	1	32714092	32714097	+	In_Frame_Del	DEL	GAGCTG	GAGCTG	-			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-29-2427-01	TCGA-29-2427-10	g.chr1:32714092_32714097delGAGCTG	ENST00000373582.3	+	2	571_576	c.382_387delGAGCTG	c.(382-387)gagctgdel	p.EL132del	LCK_ENST00000336890.5_5'Flank	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	132								p.E128_L129delEL(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGATGAGGCCGAGCTGGAGCTGGAGC	0.709											OREG0013330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - In frame(1)	ovary(1)	1																																								32486684	SO:0001651	inframe_deletion	84734			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.382_387delGAGCTG	1.37:g.32714098_32714103delGAGCTG	ENSP00000362684:p.Glu132_Leu133del	834	32486679	Q5TDH6	In_Frame_Del	DEL	ENST00000373582.3	37	CCDS358.2	DEL	37	Broad																																																																																				0.709	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		In_Frame_Del
ZNF573	126231	broad.mit.edu	37	19	38230880	38230881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-29-2427-01	TCGA-29-2427-10	g.chr19:38230880_38230881insG	ENST00000590414.2	-	4	531_532	c.510_511insC	c.(508-513)aactttfs	p.F171fs	ZNF573_ENST00000357309.3_Frame_Shift_Ins_p.F83fs|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000392138.1_Frame_Shift_Ins_p.F84fs|ZNF573_ENST00000339503.4_Frame_Shift_Ins_p.F113fs|ZNF573_ENST00000536220.1_Frame_Shift_Ins_p.F83fs			Q86YE8	ZN573_HUMAN	zinc finger protein 573	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F113fs*3(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACTACGAAAGTTCTTCCCAC	0.366																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								42922721	SO:0001589	frameshift_variant	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.511dupC	19.37:g.38230881_38230881dupG	ENSP00000465020:p.Phe171fs		42922720	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Frame_Shift_Ins	INS	ENST00000590414.2	37	CCDS59381.1	INS	3	Broad																																																																																				0.366	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		Frame_Shift_Ins
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs201732168|rs113202486|rs574714675|rs71010672	byFrequency	TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-29-2427-01	TCGA-29-2427-10	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ|TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.55																																																2	Insertion - In frame(1)|Substitution - coding silent(1)	prostate(1)|breast(1)	6																																								170712939	SO:0001652	inframe_insertion	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.211_213dupCAG	6.37:g.170871020_170871022dupCAG	ENSP00000375942:p.Gln95dup		170712938	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Ins	INS	ENST00000392092.2	37	CCDS5315.1	INS	2	Broad																																																																																				0.550	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		In_Frame_Ins
VPS13A	23230	broad.mit.edu	37	9	79897051	79897051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-2427-01	TCGA-29-2427-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-29-2427-01	TCGA-29-2427-10	g.chr9:79897051delT	ENST00000360280.3	+	29	3239	c.2979delT	c.(2977-2979)tctfs	p.S993fs	VPS13A_ENST00000376636.3_Frame_Shift_Del_p.S993fs|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.S993fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.S993fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	993					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.L994fs*11(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTTTCCTCTTTGGATATTC	0.358																																																1	Deletion - Frameshift(1)	ovary(1)	9											77.0	83.0	81.0					9																	79897051		2203	4296	6499	79086871	SO:0001589	frameshift_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2979delT	9.37:g.79897051delT	ENSP00000353422:p.Ser993fs		79086871	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	CCDS6655.1	DEL	56	Broad																																																																																				0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		Frame_Shift_Del
