#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
WASF2	10163	broad.mit.edu	37	1	27739088	27739088	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:27739088G>C	ENST00000430629.2	-	7	1017	c.802C>G	c.(802-804)Cct>Gct	p.P268A	WASF2_ENST00000536657.1_Missense_Mutation_p.P268A	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	268	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.P268A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GGTGGAGGAGGCAAGTTGTCC	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											186.0	163.0	171.0					1																	27739088		2203	4300	6503	27611675	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.802C>G	1.37:g.27739088G>C	ENSP00000396211:p.Pro268Ala		27611675	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367607	0.61513	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T	0.42513	0.97	5.51	5.51	0.81932	.	0.112759	0.64402	D	0.000007	T	0.57548	0.2061	L	0.52126	1.63	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.994	T	0.42327	-0.9458	10	0.16896	T	0.51	-8.2485	17.3813	0.87405	0.0:0.0:1.0:0.0	.	268;268	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	A	268	ENSP00000396211:P268A	ENSP00000396211:P268A	P	-	1	0	WASF2	27611675	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.964000	0.56780	2.868000	0.98415	0.557000	0.71058	CCT		0.488	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		Missense_Mutation
HPCA	3208	broad.mit.edu	37	1	33354679	33354679	+	Silent	SNP	C	C	T	rs555055449		TCGA-24-1423-01	TCGA-24-1423-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:33354679C>T	ENST00000373467.3	+	2	282	c.180C>T	c.(178-180)gaC>gaT	p.D60D	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)	p.D60D(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTATGGTGACGCCTCCAAGT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20285	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	1											122.0	107.0	112.0					1																	33354679		2203	4300	6503	33127266	SO:0001819	synonymous_variant	3208			BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.180C>T	1.37:g.33354679C>T			33127266	B2R9T3|D3DPQ7|P32076|P41211|P70510	Silent	SNP	ENST00000373467.3	37	CCDS370.1	SNP	19	Broad																																																																																				0.537	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		Silent
CSF3R	1441	broad.mit.edu	37	1	36937230	36937230	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1423-01	TCGA-24-1423-10			T	A	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:36937230T>A	ENST00000373106.1	-	10	1636	c.1089A>T	c.(1087-1089)gaA>gaT	p.E363D	CSF3R_ENST00000440588.2_Missense_Mutation_p.E363D|CSF3R_ENST00000373103.1_Missense_Mutation_p.E363D|CSF3R_ENST00000331941.5_Missense_Mutation_p.E363D|CSF3R_ENST00000338937.5_Missense_Mutation_p.E363D|CSF3R_ENST00000361632.4_Missense_Mutation_p.E363D|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Missense_Mutation_p.E363D|CSF3R_ENST00000373104.1_Missense_Mutation_p.E363D	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	363	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E363D(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCCGCTGTCTTCCTCCAGGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											69.0	70.0	70.0					1																	36937230		2203	4300	6503	36709817	SO:0001583	missense	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1089A>T	1.37:g.36937230T>A	ENSP00000362198:p.Glu363Asp		36709817		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	16.82	3.229706	0.58777	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.2	2.84	0.33178	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.499432	0.23373	N	0.048888	T	0.25938	0.0632	M	0.68952	2.095	0.09310	N	1	D;P;P;P	0.58268	0.982;0.925;0.877;0.95	P;P;B;P	0.54889	0.734;0.54;0.339;0.763	T	0.06716	-1.0811	10	0.25106	T	0.35	-0.2462	7.1816	0.25776	0.0:0.187:0.0:0.813	.	363;363;363;363	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	D	363	ENSP00000362198:E363D;ENSP00000362196:E363D;ENSP00000362195:E363D;ENSP00000355406:E363D;ENSP00000332180:E363D;ENSP00000401588:E363D;ENSP00000345013:E363D;ENSP00000397568:E363D	ENSP00000332180:E363D	E	-	3	2	CSF3R	36709817	0.003000	0.15002	0.377000	0.26055	0.806000	0.45545	0.042000	0.13949	0.821000	0.34540	0.459000	0.35465	GAA		0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		Missense_Mutation
SRSF11	9295	broad.mit.edu	37	1	70716465	70716465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:70716465G>T	ENST00000370950.3	+	13	1514	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	SRSF11_ENST00000370949.1_Nonsense_Mutation_p.E418*|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Nonsense_Mutation_p.E478*|SRSF11_ENST00000370951.1_Nonsense_Mutation_p.E477*			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	478					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E478*(1)		large_intestine(3)|ovary(2)|skin(1)	6						TCATCATGAAGAAGACATGGA	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	1											94.0	86.0	88.0					1																	70716465		2203	4300	6503	70489053	SO:0001587	stop_gained	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1432G>T	1.37:g.70716465G>T	ENSP00000359988:p.Glu478*		70489053	Q5T758|Q8IWE6	Nonsense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891896	0.91889	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	.	.	.	5.46	4.55	0.56014	.	0.050571	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	14.6219	0.68592	0.0704:0.0:0.9296:0.0	.	.	.	.	X	477;478;478;418	.	ENSP00000359987:E418X	E	+	1	0	SRSF11	70489053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.188000	0.94921	1.464000	0.47987	0.455000	0.32223	GAA		0.398	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		Nonsense_Mutation
NES	10763	broad.mit.edu	37	1	156641264	156641264	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:156641264G>C	ENST00000368223.3	-	4	2848	c.2716C>G	c.(2716-2718)Cca>Gca	p.P906A		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	906	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.P906A(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTCTGGAGATCTCAAA	0.493																																																1	Substitution - Missense(1)	ovary(1)	1											73.0	80.0	77.0					1																	156641264		2203	4300	6503	154907888	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2716C>G	1.37:g.156641264G>C	ENSP00000357206:p.Pro906Ala		154907888	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087590	0.55968	.	.	ENSG00000132688	ENST00000368223	D	0.86030	-2.06	5.45	1.03	0.20045	.	.	.	.	.	T	0.63838	0.2545	L	0.48642	1.525	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.58216	-0.7675	9	0.62326	D	0.03	.	5.0888	0.14696	0.2011:0.364:0.4348:0.0	.	906	P48681	NEST_HUMAN	A	906	ENSP00000357206:P906A	ENSP00000357206:P906A	P	-	1	0	NES	154907888	0.001000	0.12720	0.000000	0.03702	0.954000	0.61252	0.522000	0.22909	0.244000	0.21351	0.563000	0.77884	CCA		0.493	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		Missense_Mutation
CFAP45	25790	broad.mit.edu	37	1	159858244	159858244	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:159858244G>C	ENST00000368099.4	-	4	379	c.315C>G	c.(313-315)agC>agG	p.S105R	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.S20R	NM_012337.2	NP_036469.2												p.S105R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACTCCTCAGGGCTGATGATTA	0.537																																																1	Substitution - Missense(1)	ovary(1)	1											88.0	88.0	88.0					1																	159858244		2203	4300	6503	158124868	SO:0001583	missense	25790																														ENST00000368099.4:c.315C>G	1.37:g.159858244G>C	ENSP00000357079:p.Ser105Arg		158124868		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220259	0.58560	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.47528	0.84;0.89	5.35	1.83	0.25207	.	0.151633	0.64402	D	0.000016	T	0.42966	0.1226	M	0.65975	2.015	0.34882	D	0.744685	D;D	0.69078	0.997;0.993	P;P	0.59288	0.855;0.855	T	0.41215	-0.9521	9	.	.	.	-22.0943	7.6684	0.28445	0.4124:0.0:0.5876:0.0	.	105;105	A8K884;Q9UL16	.;CCD19_HUMAN	R	105;20	ENSP00000357079:S105R;ENSP00000403044:S20R	.	S	-	3	2	CCDC19	158124868	0.994000	0.37717	0.943000	0.38184	0.877000	0.50540	0.155000	0.16362	0.166000	0.19597	-0.137000	0.14449	AGC		0.537	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			Missense_Mutation
NCF2	4688	broad.mit.edu	37	1	183534893	183534893	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01	TCGA-24-1423-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:183534893C>T	ENST00000367535.3	-	10	1197	c.946G>A	c.(946-948)Gac>Aac	p.D316N	NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000413720.1_Missense_Mutation_p.D271N|NCF2_ENST00000418089.1_Missense_Mutation_p.D235N|NCF2_ENST00000367536.1_Missense_Mutation_p.D316N	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	316					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)	p.D316N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GCTGGGATGTCGGACTGCGGA	0.597																																																1	Substitution - Missense(1)	ovary(1)	1											79.0	79.0	79.0					1																	183534893		2203	4300	6503	181801516	SO:0001583	missense	4688			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.946G>A	1.37:g.183534893C>T	ENSP00000356505:p.Asp316Asn		181801516	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	CCDS1356.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364679	0.24684	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000419402	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.27	3.36	0.38483	Src homology-3 domain (1);	0.507534	0.23256	N	0.050184	T	0.30759	0.0775	M	0.69248	2.105	0.22280	N	0.999237	B;D;P	0.54207	0.007;0.965;0.573	B;B;B	0.43360	0.001;0.417;0.059	T	0.19549	-1.0302	10	0.45353	T	0.12	-36.5504	7.4523	0.27246	0.0:0.7192:0.1889:0.0919	.	235;271;316	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	N	316;388;271;235;316;55	ENSP00000356506:D316N;ENSP00000399294:D271N;ENSP00000407217:D235N;ENSP00000356505:D316N;ENSP00000406198:D55N	ENSP00000356505:D316N	D	-	1	0	NCF2	181801516	0.646000	0.27295	0.129000	0.21949	0.360000	0.29518	1.283000	0.33237	1.201000	0.43203	0.561000	0.74099	GAC		0.597	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		Missense_Mutation
IGFN1	91156	broad.mit.edu	37	1	201183377	201183377	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:201183377G>T	ENST00000335211.4	+	13	8931	c.8801G>T	c.(8800-8802)tGt>tTt	p.C2934F	IGFN1_ENST00000451870.2_Missense_Mutation_p.C477F|IGFN1_ENST00000295591.8_Missense_Mutation_p.C94F	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	477						nucleus (GO:0005634)|Z disc (GO:0030018)		p.C94F(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACACTCTCCTGTACCCTCACC	0.627																																																1	Substitution - Missense(1)	ovary(1)	1											60.0	47.0	51.0					1																	201183377		2203	4300	6503	199450000	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8801G>T	1.37:g.201183377G>T	ENSP00000334714:p.Cys2934Phe		199450000	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823239	0.71143	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.62941	-0.01;-0.01;-0.01	3.39	3.39	0.38822	.	0.000000	0.64402	U	0.000001	D	0.83732	0.5318	H	0.95294	3.65	0.53688	D	0.999979	D	0.69078	0.997	D	0.83275	0.996	D	0.88392	0.3009	10	0.72032	D	0.01	.	13.1103	0.59268	0.0:0.0:1.0:0.0	.	2934	F8WAI1	.	F	2934;477;94	ENSP00000334714:C2934F;ENSP00000398386:C477F;ENSP00000295591:C94F	ENSP00000295591:C94F	C	+	2	0	IGFN1	199450000	1.000000	0.71417	0.989000	0.46669	0.206000	0.24218	7.088000	0.76901	1.728000	0.51552	0.313000	0.20887	TGT		0.627	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		Missense_Mutation
RPS6KC1	26750	broad.mit.edu	37	1	213414047	213414047	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1423-01	TCGA-24-1423-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:213414047G>A	ENST00000366960.3	+	11	1378	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398S|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.G410S(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCACAGGTGGCAAACTGTG	0.308																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	1											79.0	91.0	87.0					1																	213414047		2203	4300	6503	211480670	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1228G>A	1.37:g.213414047G>A	ENSP00000355927:p.Gly410Ser		211480670	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309104	0.60414	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71925	-0.4445	10	0.87932	D	0	-1.6401	15.0811	0.72117	0.0686:0.0:0.9314:0.0	.	198;410;398	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	S	198;410;398;113	ENSP00000442306:G198S;ENSP00000355927:G410S;ENSP00000355926:G398S;ENSP00000439282:G113S	ENSP00000355926:G398S	G	+	1	0	RPS6KC1	211480670	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.040000	0.93783	1.515000	0.48885	0.557000	0.71058	GGC		0.308	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		Missense_Mutation
RYR2	6262	broad.mit.edu	37	1	237777820	237777820	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10			G	T	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr1:237777820G>T	ENST00000366574.2	+	37	5709	c.5392G>T	c.(5392-5394)Gct>Tct	p.A1798S	RYR2_ENST00000360064.6_Missense_Mutation_p.A1796S|RYR2_ENST00000542537.1_Missense_Mutation_p.A1782S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1798	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1796S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGACAGAAGCTGTTAAAGA	0.463																																																1	Substitution - Missense(1)	ovary(1)	1											165.0	158.0	160.0					1																	237777820		1947	4146	6093	235844443	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5392G>T	1.37:g.237777820G>T	ENSP00000355533:p.Ala1798Ser		235844443	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659155	0.47467	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74526	-0.85;-0.85;-0.85	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000043	T	0.74959	0.3785	L	0.55481	1.735	0.80722	D	1	P	0.40050	0.7	B	0.41036	0.346	T	0.76219	-0.3039	10	0.52906	T	0.07	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1798	Q92736	RYR2_HUMAN	S	1798;1796;1782	ENSP00000355533:A1798S;ENSP00000353174:A1796S;ENSP00000443798:A1782S	ENSP00000353174:A1796S	A	+	1	0	RYR2	235844443	1.000000	0.71417	0.214000	0.23707	0.169000	0.22640	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GCT		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		Missense_Mutation
EPC1	80314	broad.mit.edu	37	10	32576097	32576097	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr10:32576097G>T	ENST00000263062.8	-	7	1350	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	EPC1_ENST00000319778.6_Missense_Mutation_p.L361M|EPC1_ENST00000375110.2_Missense_Mutation_p.L311M	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	361					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.L361M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AAGACTGGCAGTGCAGCAGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											156.0	138.0	144.0					10																	32576097		2203	4300	6503	32616103	SO:0001583	missense	80314			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1081C>A	10.37:g.32576097G>T	ENSP00000263062:p.Leu361Met		32616103	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349708	0.82132	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.69561	-0.41;-0.41;-0.41	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000029	T	0.75413	0.3846	L	0.34521	1.04	0.50467	D	0.999871	B;D;D;D	0.76494	0.404;0.997;0.997;0.999	B;D;D;D	0.70016	0.146;0.967;0.967;0.949	T	0.76898	-0.2789	10	0.62326	D	0.03	-6.5809	19.5994	0.95554	0.0:0.0:1.0:0.0	.	361;311;361;361	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	M	311;361;361	ENSP00000364251:L311M;ENSP00000318559:L361M;ENSP00000263062:L361M	ENSP00000263062:L361M	L	-	1	2	EPC1	32616103	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.774000	0.68906	2.633000	0.89246	0.557000	0.71058	CTG		0.458	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			Missense_Mutation
JMJD1C	221037	broad.mit.edu	37	10	64936163	64936163	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1423-01	TCGA-24-1423-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr10:64936163T>C	ENST00000399262.2	-	24	7513	c.7295A>G	c.(7294-7296)aAc>aGc	p.N2432S	JMJD1C_ENST00000542921.1_Missense_Mutation_p.N2250S|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.N2195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2432	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.N2195S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GAGCTTTTTGTTCACATACCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	10											127.0	118.0	121.0					10																	64936163		1868	4087	5955	64606169	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7295A>G	10.37:g.64936163T>C	ENSP00000382204:p.Asn2432Ser		64606169	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	SNP	60	Broad	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427259	0.25726	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.71222	-0.55;-0.55;-0.55	5.64	5.64	0.86602	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.046736	0.85682	D	0.000000	T	0.45478	0.1344	N	0.02247	-0.625	0.80722	D	1	B;B	0.21520	0.057;0.026	B;B	0.27500	0.08;0.03	T	0.45571	-0.9252	10	0.29301	T	0.29	-15.2545	9.9661	0.41725	0.0:0.0763:0.0:0.9237	.	2432;2250	Q15652;A0T124	JHD2C_HUMAN;.	S	2432;2195;2250	ENSP00000382204:N2432S;ENSP00000384990:N2195S;ENSP00000444682:N2250S	ENSP00000382204:N2432S	N	-	2	0	JMJD1C	64606169	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	2.450000	0.44943	2.139000	0.66308	0.533000	0.62120	AAC		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		Missense_Mutation
TACR2	6865	broad.mit.edu	37	10	71176075	71176075	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr10:71176075C>G	ENST00000373306.4	-	1	548	c.5G>C	c.(4-6)gGg>gCg	p.G2A		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	2					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.G2A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCACAGGTCCCCATGGCTGC	0.557																																																1	Substitution - Missense(1)	ovary(1)	10											52.0	57.0	55.0					10																	71176075		2203	4300	6503	70846081	SO:0001583	missense	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.5G>C	10.37:g.71176075C>G	ENSP00000362403:p.Gly2Ala		70846081	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	CCDS7293.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354055	0.24512	.	.	ENSG00000075073	ENST00000373306	T	0.72167	-0.63	5.17	2.05	0.26809	.	0.688764	0.13660	N	0.371694	T	0.66025	0.2748	M	0.63428	1.95	0.22017	N	0.999415	P	0.47350	0.894	B	0.43950	0.437	T	0.57648	-0.7775	10	0.54805	T	0.06	.	5.5615	0.17146	0.1332:0.5343:0.2586:0.0739	.	2	P21452	NK2R_HUMAN	A	2	ENSP00000362403:G2A	ENSP00000362403:G2A	G	-	2	0	TACR2	70846081	0.449000	0.25689	0.776000	0.31678	0.137000	0.21094	0.807000	0.27140	0.665000	0.31066	0.561000	0.74099	GGG		0.557	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			Missense_Mutation
DUPD1	338599	broad.mit.edu	37	10	76803577	76803577	+	Silent	SNP	G	G	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr10:76803577G>A	ENST00000338487.5	-	2	398	c.399C>T	c.(397-399)gaC>gaT	p.D133D		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	133	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D133D(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTAGCGCTCTGTCGATGAAGG	0.697																																																1	Substitution - coding silent(1)	ovary(1)	10											78.0	69.0	72.0					10																	76803577		2203	4300	6503	76473583	SO:0001819	synonymous_variant	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.399C>T	10.37:g.76803577G>A			76473583	B2RP93	Silent	SNP	ENST00000338487.5	37	CCDS31223.1	SNP	48	Broad																																																																																				0.697	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		Silent
LOXL4	84171	broad.mit.edu	37	10	100017897	100017897	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr10:100017897C>T	ENST00000260702.3	-	7	1096	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	316	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.G316R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		ACCTGGGCCCCGGAGCGCAGG	0.687																																																1	Substitution - Missense(1)	ovary(1)	10											33.0	31.0	32.0					10																	100017897		2203	4298	6501	100007887	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.946G>A	10.37:g.100017897C>T	ENSP00000260702:p.Gly316Arg		100007887	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	33	5.237809	0.95240	.	.	ENSG00000138131	ENST00000260702	T	0.59772	0.24	4.94	4.94	0.65067	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.81654	0.4868	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86530	0.1821	10	0.87932	D	0	.	18.1558	0.89690	0.0:1.0:0.0:0.0	.	316	Q96JB6	LOXL4_HUMAN	R	316	ENSP00000260702:G316R	ENSP00000260702:G316R	G	-	1	0	LOXL4	100007887	1.000000	0.71417	0.969000	0.41365	0.980000	0.70556	7.759000	0.85235	2.283000	0.76528	0.549000	0.68633	GGG		0.687	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		Missense_Mutation
DUSP5	1847	broad.mit.edu	37	10	112269980	112269980	+	Silent	SNP	C	C	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr10:112269980C>A	ENST00000369583.3	+	4	1235	c.951C>A	c.(949-951)atC>atA	p.I317I	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	317	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.I317I(1)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AATCTGAGATCCTGCCCTCCA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	10											70.0	62.0	65.0					10																	112269980		2203	4300	6503	112259970	SO:0001819	synonymous_variant	1847			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.951C>A	10.37:g.112269980C>A			112259970	Q12997|Q5T603	Silent	SNP	ENST00000369583.3	37	CCDS7566.1	SNP	30	Broad																																																																																				0.597	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		Silent
B4GALNT4	338707	broad.mit.edu	37	11	381728	381728	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr11:381728A>G	ENST00000329962.6	+	20	3056	c.3056A>G	c.(3055-3057)tAc>tGc	p.Y1019C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	1019					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TATCACCACTACCACTCCAAG	0.697																																																0			11											24.0	26.0	26.0					11																	381728		2201	4294	6495	371728	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.3056A>G	11.37:g.381728A>G	ENSP00000328277:p.Tyr1019Cys		371728	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	SNP	14	Broad	.	.	.	.	.	.	.	.	.	.	a	13.50	2.254517	0.39896	.	.	ENSG00000182272	ENST00000329962	T	0.36157	1.27	3.92	-0.282	0.12878	.	0.289408	0.34291	N	0.004087	T	0.55481	0.1923	M	0.80982	2.52	0.40320	D	0.978812	D	0.76494	0.999	D	0.77004	0.989	T	0.56968	-0.7891	10	0.87932	D	0	-14.928	9.2929	0.37797	0.5583:0.0:0.0:0.4417	.	1019	Q76KP1	B4GN4_HUMAN	C	1019	ENSP00000328277:Y1019C	ENSP00000328277:Y1019C	Y	+	2	0	B4GALNT4	371728	1.000000	0.71417	0.997000	0.53966	0.309000	0.27889	1.149000	0.31626	-0.153000	0.11137	0.370000	0.22315	TAC		0.697	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		Missense_Mutation
KRT6B	3854	broad.mit.edu	37	12	52845660	52845660	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr12:52845660T>C	ENST00000252252.3	-	1	250	c.203A>G	c.(202-204)aAg>aGg	p.K68R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	68	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.K68R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGAGATCCTCTTGGAGCCCCC	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											16.0	19.0	18.0					12																	52845660		1928	3912	5840	51131927	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.203A>G	12.37:g.52845660T>C	ENSP00000252252:p.Lys68Arg		51131927	P48669	Missense_Mutation	SNP	ENST00000252252.3	37	CCDS8828.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	0.495	-0.873352	0.02570	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75260	-0.92	3.07	0.622	0.17648	.	0.502462	0.19667	N	0.108842	T	0.54902	0.1887	L	0.39326	1.205	0.28661	N	0.906116	B	0.06786	0.001	B	0.04013	0.001	T	0.32640	-0.9899	10	0.09084	T	0.74	.	4.1344	0.10164	0.0:0.1926:0.1781:0.6292	.	68	P04259	K2C6B_HUMAN	R	68	ENSP00000252252:K68R	ENSP00000252252:K68R	K	-	2	0	KRT6B	51131927	.	.	0.998000	0.56505	0.381000	0.30169	.	.	0.131000	0.18576	0.248000	0.18094	AAG		0.652	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		Missense_Mutation
SOAT2	8435	broad.mit.edu	37	12	53509190	53509190	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr12:53509190G>C	ENST00000301466.3	+	6	520	c.460G>C	c.(460-462)Gac>Cac	p.D154H		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	154					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.D154H(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GCTGGAGTTTGACCTACTGAT	0.567																																																1	Substitution - Missense(1)	ovary(1)	12											68.0	68.0	68.0					12																	53509190		2203	4300	6503	51795457	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.460G>C	12.37:g.53509190G>C	ENSP00000301466:p.Asp154His		51795457	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855361	0.91355	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.17854	2.25;2.25	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13980	-1.0489	10	0.40728	T	0.16	-34.1655	18.3904	0.90481	0.0:0.0:1.0:0.0	.	154	O75908	SOAT2_HUMAN	H	134;154	ENSP00000450120:D134H;ENSP00000301466:D154H	ENSP00000301466:D154H	D	+	1	0	SOAT2	51795457	1.000000	0.71417	0.780000	0.31762	0.997000	0.91878	7.416000	0.80143	2.725000	0.93324	0.655000	0.94253	GAC		0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			Missense_Mutation
ZFC3H1	196441	broad.mit.edu	37	12	72013148	72013148	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr12:72013148A>C	ENST00000378743.3	-	27	5449	c.5091T>G	c.(5089-5091)atT>atG	p.I1697M		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1697					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I1697M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGAAGGATGCAATAAATTTCC	0.353																																																1	Substitution - Missense(1)	ovary(1)	12											69.0	62.0	64.0					12																	72013148		1811	4074	5885	70299415	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5091T>G	12.37:g.72013148A>C	ENSP00000368017:p.Ile1697Met		70299415	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374899	0.42105	.	.	ENSG00000133858	ENST00000378743	T	0.37235	1.21	5.55	-0.801	0.10893	Tetratricopeptide-like helical (1);	0.216928	0.39341	N	0.001390	T	0.19644	0.0472	N	0.24115	0.695	0.80722	D	1	B	0.23316	0.083	B	0.15870	0.014	T	0.03354	-1.1045	10	0.66056	D	0.02	.	6.7449	0.23456	0.4995:0.1362:0.3643:0.0	.	1697	O60293	ZC3H1_HUMAN	M	1697	ENSP00000368017:I1697M	ENSP00000368017:I1697M	I	-	3	3	ZFC3H1	70299415	0.946000	0.32159	0.997000	0.53966	0.999000	0.98932	-0.046000	0.11983	-0.139000	0.11414	0.533000	0.62120	ATT		0.353	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		Missense_Mutation
CDK17	5128	broad.mit.edu	37	12	96717754	96717754	+	Missense_Mutation	SNP	C	C	T	rs374368521		TCGA-24-1423-01	TCGA-24-1423-10			C	T	C	C	Unknown	Valid	Somatic	x	x	454_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr12:96717754C>T	ENST00000261211.3	-	3	858	c.255G>A	c.(253-255)atG>atA	p.M85I	CDK17_ENST00000543119.2_Missense_Mutation_p.M85I|CDK17_ENST00000542666.1_Missense_Mutation_p.M32I	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	85					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.M85I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGGGCATTGCCATGAAGGAGC	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											75.0	70.0	72.0					12																	96717754		2203	4300	6503	95241885	SO:0001583	missense	5128				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.255G>A	12.37:g.96717754C>T	ENSP00000261211:p.Met85Ile		95241885	A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467870	0.43839	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666;ENST00000551816;ENST00000552496;ENST00000548734;ENST00000552262	T;T;T;T;T;T	0.68765	-0.34;-0.35;-0.34;0.99;0.99;0.85	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.33485	1.01	0.53005	D	0.999968	B;B	0.11235	0.002;0.004	B;B	0.10450	0.005;0.005	T	0.50808	-0.8784	10	0.22706	T	0.39	-17.8923	20.3236	0.98685	0.0:1.0:0.0:0.0	.	85;85	A8K1U6;Q00537	.;CDK17_HUMAN	I	85;85;32;85;85;105;85	ENSP00000261211:M85I;ENSP00000444459:M85I;ENSP00000442926:M32I;ENSP00000450058:M85I;ENSP00000447282:M85I;ENSP00000447441:M105I	ENSP00000261211:M85I	M	-	3	0	CDK17	95241885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.732000	0.68563	2.876000	0.98609	0.644000	0.83932	ATG		0.423	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		Missense_Mutation
GOLGA3	2802	broad.mit.edu	37	12	133384882	133384882	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr12:133384882T>G	ENST00000450791.2	-	4	956	c.773A>C	c.(772-774)aAt>aCt	p.N258T	GOLGA3_ENST00000537452.1_Missense_Mutation_p.N258T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.N258T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N258T|GOLGA3_ENST00000204726.3_Missense_Mutation_p.N258T			Q08378	GOGA3_HUMAN	golgin A3	258					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.N258T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCCCCAGAATTCCCCGCATT	0.537																																																1	Substitution - Missense(1)	ovary(1)	12											139.0	153.0	148.0					12																	133384882		2203	4300	6503	131894955	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.773A>C	12.37:g.133384882T>G	ENSP00000410378:p.Asn258Thr		131894955	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	7.321	0.616998	0.14129	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.23	-4.1	0.03940	.	1.017860	0.07810	N	0.957950	T	0.21550	0.0519	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28933	0.228;0.137;0.106	B;B;B	0.25140	0.053;0.058;0.05	T	0.33904	-0.9850	10	0.54805	T	0.06	.	6.3877	0.21569	0.1967:0.3869:0.0:0.4163	.	258;258;258	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	258	ENSP00000204726:N258T;ENSP00000410378:N258T;ENSP00000409303:N258T;ENSP00000442143:N258T;ENSP00000442603:N258T	ENSP00000204726:N258T	N	-	2	0	GOLGA3	131894955	0.000000	0.05858	0.001000	0.08648	0.240000	0.25518	-0.545000	0.06069	-0.473000	0.06871	-0.334000	0.08254	AAT		0.537	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		Missense_Mutation
FREM2	341640	broad.mit.edu	37	13	39263731	39263731	+	Missense_Mutation	SNP	C	C	A	rs41292755	byFrequency	TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr13:39263731C>A	ENST00000280481.7	+	1	2466	c.2250C>A	c.(2248-2250)gaC>gaA	p.D750E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	750					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D750E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGACACAGACGAAAATCACC	0.527																																																1	Substitution - Missense(1)	ovary(1)	13											75.0	79.0	78.0					13																	39263731		2203	4300	6503	38161731	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2250C>A	13.37:g.39263731C>A	ENSP00000280481:p.Asp750Glu		38161731	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895849	0.52121	.	.	ENSG00000150893	ENST00000280481	T	0.25749	1.78	5.8	0.702	0.18110	.	0.047359	0.85682	N	0.000000	T	0.44871	0.1314	M	0.83118	2.625	0.58432	D	0.999992	D	0.76494	0.999	D	0.69654	0.965	T	0.33059	-0.9883	10	0.44086	T	0.13	.	6.5789	0.22583	0.0:0.225:0.1283:0.6467	.	750	Q5SZK8	FREM2_HUMAN	E	750	ENSP00000280481:D750E	ENSP00000280481:D750E	D	+	3	2	FREM2	38161731	0.996000	0.38824	1.000000	0.80357	0.897000	0.52465	0.322000	0.19576	0.425000	0.26087	-0.294000	0.09567	GAC		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		Missense_Mutation
KATNBL1	79768	broad.mit.edu	37	15	34439435	34439435	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr15:34439435G>C	ENST00000256544.3	-	7	806	c.664C>G	c.(664-666)Cta>Gta	p.L222V		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	222						nucleolus (GO:0005730)		p.L222V(1)									GACTTTACTAGAGGCAACAAG	0.318																																																1	Substitution - Missense(1)	ovary(1)	15											65.0	66.0	66.0					15																	34439435		2201	4298	6499	32226727	SO:0001583	missense	79768			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.664C>G	15.37:g.34439435G>C	ENSP00000256544:p.Leu222Val		32226727	A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	CCDS10034.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729212	0.69074	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.7	5.7	0.88788	.	0.132704	0.52532	D	0.000066	T	0.66645	0.2810	L	0.54323	1.7	0.40867	D	0.983885	D	0.76494	0.999	D	0.70227	0.968	T	0.61753	-0.6998	9	0.17369	T	0.5	.	10.8605	0.46823	0.1136:0.0:0.8864:0.0	.	222	Q9H079	CO029_HUMAN	V	222;126	.	ENSP00000256544:L222V	L	-	1	2	C15orf29	32226727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.560000	0.60802	2.692000	0.91855	0.591000	0.81541	CTA		0.318	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		Missense_Mutation
TMC3	342125	broad.mit.edu	37	15	81650817	81650817	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr15:81650817T>A	ENST00000359440.5	-	6	661	c.526A>T	c.(526-528)Agc>Tgc	p.S176C	TMC3_ENST00000558726.1_Missense_Mutation_p.S176C|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.S176C(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTGGCTGTGCTTCCAAAGGGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	15											73.0	80.0	78.0					15																	81650817		2038	4200	6238	79437872	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.526A>T	15.37:g.81650817T>A	ENSP00000352413:p.Ser176Cys		79437872		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	15.72	2.918075	0.52546	.	.	ENSG00000188869	ENST00000359440	T	0.52754	0.65	5.21	5.21	0.72293	.	0.058311	0.64402	D	0.000002	T	0.68293	0.2985	M	0.79475	2.455	0.58432	D	0.999991	D;P	0.76494	0.999;0.786	D;B	0.66716	0.946;0.22	T	0.73395	-0.3996	10	0.87932	D	0	-26.88	15.2366	0.73436	0.0:0.0:0.0:1.0	.	176;176	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	C	176	ENSP00000352413:S176C	ENSP00000352413:S176C	S	-	1	0	TMC3	79437872	1.000000	0.71417	0.960000	0.40013	0.299000	0.27559	7.152000	0.77419	2.178000	0.69098	0.528000	0.53228	AGC		0.567	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		Missense_Mutation
RAB26	25837	broad.mit.edu	37	16	2203354	2203354	+	Nonsense_Mutation	SNP	G	G	T	rs147124016	byFrequency	TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr16:2203354G>T	ENST00000210187.6	+	9	863	c.703G>T	c.(703-705)Gag>Tag	p.E235*	TRAF7_ENST00000326181.6_5'Flank|SNORD60_ENST00000383903.1_RNA|RP11-304L19.5_ENST00000563192.1_lincRNA|RAB26_ENST00000541451.1_Nonsense_Mutation_p.E169*	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	235					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						GGCTCCCAGCGAGCCGCGCTT	0.632																																																0			16											46.0	52.0	50.0					16																	2203354		2198	4300	6498	2143355	SO:0001587	stop_gained	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.703G>T	16.37:g.2203354G>T	ENSP00000210187:p.Glu235*		2143355	B2RAA6|Q3L6K5|Q6NXS7	Nonsense_Mutation	SNP	ENST00000210187.6	37	CCDS10460.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.775922	0.96922	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	.	.	.	4.42	4.42	0.53409	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.5416	0.67999	0.0:0.0:1.0:0.0	.	.	.	.	X	169;235	.	ENSP00000210187:E235X	E	+	1	0	RAB26	2143355	1.000000	0.71417	0.974000	0.42286	0.372000	0.29890	5.004000	0.63966	2.296000	0.77279	0.313000	0.20887	GAG		0.632	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			Nonsense_Mutation
FBXL19	54620	broad.mit.edu	37	16	30958095	30958095	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr16:30958095C>T	ENST00000380310.2	+	10	1890	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	FBXL19_ENST00000562319.1_Missense_Mutation_p.R558C|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000565690.1_Missense_Mutation_p.R442C|FBXL19_ENST00000338343.4_Missense_Mutation_p.R558C|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.R266C|ORAI3_ENST00000566237.1_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	578					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R408C(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGCAGAACTGCGTCTGGCAGG	0.677																																																1	Substitution - Missense(1)	ovary(1)	16											31.0	39.0	36.0					16																	30958095		2124	4235	6359	30865596	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1732C>T	16.37:g.30958095C>T	ENSP00000369666:p.Arg578Cys		30865596	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	SNP	27	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.965916|3.965916	0.74131|0.74131	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.36878	.|1.23;1.23	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.61098|0.61098	0.2320|0.2320	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.651;1.0	.|B;D	.|0.83275	.|0.124;0.996	T|T	0.65853|0.65853	-0.6067|-0.6067	5|10	.|0.62326	.|D	.|0.03	-14.3079|-14.3079	16.5678|16.5678	0.84603|0.84603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|578;535	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	V|C	469|558;578	.|ENSP00000339712:R558C;ENSP00000369666:R578C	.|ENSP00000339712:R558C	A|R	+|+	2|1	0|0	FBXL19|FBXL19	30865596|30865596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.738000|7.738000	0.84966|0.84966	2.203000|2.203000	0.70933|0.70933	0.561000|0.561000	0.74099|0.74099	GCG|CGT		0.677	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		Missense_Mutation
SETD1A	9739	broad.mit.edu	37	16	30982964	30982964	+	Silent	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr16:30982964G>T	ENST00000262519.8	+	13	3968	c.3282G>T	c.(3280-3282)gtG>gtT	p.V1094V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1094	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V1094V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGTGGAGGTGCCAGTGCCGG	0.662																																																1	Substitution - coding silent(1)	ovary(1)	16											36.0	38.0	38.0					16																	30982964		2197	4298	6495	30890465	SO:0001819	synonymous_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3282G>T	16.37:g.30982964G>T			30890465	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	CCDS32435.1	SNP	46	Broad																																																																																				0.662	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		Silent
GPR179	440435	broad.mit.edu	37	17	36492928	36492928	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr17:36492928C>G	ENST00000342292.4	-	4	1180	c.1160G>C	c.(1159-1161)tGc>tCc	p.C387S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	387					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C387S(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCAGGCCTGGCAGGCCAGCAC	0.652																																																1	Substitution - Missense(1)	ovary(1)	17											16.0	19.0	18.0					17																	36492928		2148	4276	6424	33746454	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1160G>C	17.37:g.36492928C>G	ENSP00000345060:p.Cys387Ser		33746454		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879894	0.72294	.	.	ENSG00000188888	ENST00000342292	T	0.52057	0.68	5.19	3.18	0.36537	GPCR, family 3, C-terminal (1);	0.244508	0.36002	N	0.002846	T	0.41305	0.1153	L	0.57536	1.79	0.33749	D	0.620385	B	0.21381	0.055	B	0.15052	0.012	T	0.51694	-0.8673	10	0.62326	D	0.03	-7.3449	8.5621	0.33516	0.4198:0.4403:0.1399:0.0	.	387	Q6PRD1	GP179_HUMAN	S	387	ENSP00000345060:C387S	ENSP00000345060:C387S	C	-	2	0	GPR179	33746454	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.508000	0.35769	0.755000	0.32990	0.561000	0.74099	TGC		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			Missense_Mutation
GH2	2689	broad.mit.edu	37	17	61957801	61957801	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10			G	T	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr17:61957801G>T	ENST00000423893.2	-	5	595	c.534C>A	c.(532-534)aaC>aaA	p.N178K	GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.T177K|GH2_ENST00000449787.2_Missense_Mutation_p.N163K			P01242	SOM2_HUMAN	growth hormone 2	178					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.T177K(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTGCGTCATCGTTGTGCGATT	0.542																																																1	Substitution - Missense(1)	ovary(1)	17											220.0	179.0	193.0					17																	61957801		2203	4300	6503	59311533	SO:0001583	missense	2689			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.534C>A	17.37:g.61957801G>T	ENSP00000409294:p.Asn178Lys		59311533	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	SNP	40	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	4.799|4.799	0.148506|0.148506	0.09134|0.09134	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000423893;ENST00000449787|ENST00000456543	D;D|D	0.86164|0.87966	-2.08;-2.08|-2.32	2.74|2.74	0.154|0.154	0.14901|0.14901	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	.|.	.|.	.|.	.|.	D|D	0.83908|0.83908	0.5356|0.5356	L|L	0.55990|0.55990	1.75|1.75	0.53005|0.53005	D|D	0.999969|0.999969	P;D|P	0.71674|0.44429	0.777;0.998|0.835	P;D|P	0.79784|0.46172	0.586;0.993|0.506	T|T	0.77327|0.77327	-0.2629|-0.2629	9|8	0.52906|.	T|.	0.07|.	.|.	7.7819|7.7819	0.29070|0.29070	0.3257:0.0:0.6743:0.0|0.3257:0.0:0.6743:0.0	.|.	178;163|177	P01242;O14643|O14644	SOM2_HUMAN;.|.	K|K	178;163|177	ENSP00000409294:N178K;ENSP00000410618:N163K|ENSP00000394122:T177K	ENSP00000409294:N178K|.	N|T	-|-	3|2	2|0	GH2|GH2	59311533|59311533	0.008000|0.008000	0.16893|0.16893	0.011000|0.011000	0.14972|0.14972	0.008000|0.008000	0.06430|0.06430	-0.331000|-0.331000	0.07914|0.07914	-0.051000|-0.051000	0.13334|0.13334	0.306000|0.306000	0.20318|0.20318	AAC|ACG		0.542	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		Missense_Mutation
ICT1	3396	broad.mit.edu	37	17	73016603	73016603	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr17:73016603G>C	ENST00000301585.5	+	5	400	c.387G>C	c.(385-387)agG>agC	p.R129S		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	129					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)	p.R129S(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					AGATCAACAGGTTAGGAGAGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	17											58.0	60.0	59.0					17																	73016603		2203	4300	6503	70528198	SO:0001583	missense	3396			X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.387G>C	17.37:g.73016603G>C	ENSP00000301585:p.Arg129Ser		70528198	B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	CCDS11711.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826591	0.32329	.	.	ENSG00000167862	ENST00000301585	T	0.30182	1.54	5.77	3.46	0.39613	Peptide chain release factor class I/class II (1);	0.352627	0.34906	N	0.003586	T	0.18002	0.0432	N	0.10685	0.025	0.09310	N	1	B	0.28998	0.23	B	0.34093	0.175	T	0.22871	-1.0204	10	0.49607	T	0.09	-9.7386	11.4668	0.50243	0.2161:0.0:0.7839:0.0	.	129	Q14197	ICT1_HUMAN	S	129	ENSP00000301585:R129S	ENSP00000301585:R129S	R	+	3	2	ICT1	70528198	0.046000	0.20272	0.042000	0.18584	0.913000	0.54294	1.094000	0.30951	1.441000	0.47550	0.561000	0.74099	AGG		0.458	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		Missense_Mutation
OSBPL1A	114876	broad.mit.edu	37	18	21758092	21758092	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr18:21758092C>T	ENST00000319481.3	-	21	2184	c.1978G>A	c.(1978-1980)Gct>Act	p.A660T	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A278T|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A147T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	660					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.A660T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AATCCTTCAGCATGAAATGCA	0.383																																																1	Substitution - Missense(1)	ovary(1)	18											147.0	138.0	141.0					18																	21758092		2203	4300	6503	20012090	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1978G>A	18.37:g.21758092C>T	ENSP00000320291:p.Ala660Thr		20012090	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	36	5.655357	0.96724	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.32988	1.43;1.43;1.43	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58059	-0.7703	10	0.66056	D	0.02	-21.2003	20.1861	0.98216	0.0:1.0:0.0:0.0	.	660	Q9BXW6	OSBL1_HUMAN	T	660;147;278	ENSP00000320291:A660T;ENSP00000382372:A147T;ENSP00000349545:A278T	ENSP00000320291:A660T	A	-	1	0	OSBPL1A	20012090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.076000	0.71267	2.774000	0.95407	0.655000	0.94253	GCT		0.383	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		Missense_Mutation
TMPRSS9	360200	broad.mit.edu	37	19	2401990	2401990	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr19:2401990T>G	ENST00000332578.3	+	4	430	c.430T>G	c.(430-432)Ttg>Gtg	p.L144V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	144					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L144V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGGACCCTTGGCAGAAAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	19											204.0	194.0	197.0					19																	2401990		2203	4300	6503	2352990	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.430T>G	19.37:g.2401990T>G	ENSP00000330264:p.Leu144Val		2352990	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.439171	0.01098	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87650	-2.28	3.25	-5.09	0.02920	.	2.991110	0.02453	N	0.085721	T	0.73814	0.3635	N	0.20530	0.585	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.62695	-0.6800	10	0.13470	T	0.59	.	5.6418	0.17569	0.0:0.2978:0.3213:0.3808	.	144;178	Q7Z410;E7EMP4	TMPS9_HUMAN;.	V	178;144	ENSP00000330264:L144V	ENSP00000330264:L144V	L	+	1	2	TMPRSS9	2352990	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.340000	0.02650	-1.255000	0.02481	-2.043000	0.00416	TTG		0.458	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		Missense_Mutation
IER2	9592	broad.mit.edu	37	19	13264078	13264078	+	Silent	SNP	T	T	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr19:13264078T>G	ENST00000588173.1	+	1	1290	c.78T>G	c.(76-78)ggT>ggG	p.G26G	STX10_ENST00000343587.5_5'Flank|IER2_ENST00000292433.3_Silent_p.G26G|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.G26G|CTC-250I14.6_ENST00000586483.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	26						cytoplasm (GO:0005737)		p.G26G(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGCAGCGCGGTGGCCTGCGGC	0.662											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	19											20.0	20.0	20.0					19																	13264078		2202	4295	6497	13125078	SO:0001819	synonymous_variant	9592			M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.78T>G	19.37:g.13264078T>G		686	13125078	Q03827|Q2TAZ2	Silent	SNP	ENST00000588173.1	37	CCDS12295.1	SNP	59	Broad																																																																																				0.662	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1	NM_004907		Silent
ATP13A1	57130	broad.mit.edu	37	19	19766160	19766160	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr19:19766160G>T	ENST00000357324.6	-	11	1525	c.1499C>A	c.(1498-1500)gCc>gAc	p.A500D	ATP13A1_ENST00000291503.5_Missense_Mutation_p.A382D|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	500						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A500D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTGTTGACGGCCAGGGACAG	0.632																																					Esophageal Squamous(142;920 1789 9047 14684 24777)											1	Substitution - Missense(1)	ovary(1)	19											99.0	82.0	87.0					19																	19766160		2203	4300	6503	19627160	SO:0001583	missense	57130			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1499C>A	19.37:g.19766160G>T	ENSP00000349877:p.Ala500Asp		19627160	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	CCDS32970.2	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473528	0.84640	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.91686	-2.89;-2.89	5.1	5.1	0.69264	ATPase, P-type, ATPase-associated domain (1);	0.049061	0.85682	D	0.000000	D	0.97470	0.9172	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.925	D	0.98813	1.0744	10	0.87932	D	0	-18.1556	15.9888	0.80183	0.0:0.0:1.0:0.0	.	500;382	Q9HD20;Q9HD20-2	AT131_HUMAN;.	D	382;500	ENSP00000291503:A382D;ENSP00000349877:A500D	ENSP00000291503:A382D	A	-	2	0	ATP13A1	19627160	1.000000	0.71417	0.944000	0.38274	0.610000	0.37248	9.330000	0.96422	2.385000	0.81259	0.561000	0.74099	GCC		0.632	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		Missense_Mutation
MTA3	57504	broad.mit.edu	37	2	42922935	42922935	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr2:42922935G>C	ENST00000405094.1	+	10	922	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	MTA3_ENST00000406911.1_Missense_Mutation_p.E308Q|MTA3_ENST00000405592.1_Missense_Mutation_p.E252Q|MTA3_ENST00000406652.1_Missense_Mutation_p.E252Q|MTA3_ENST00000407270.3_Missense_Mutation_p.E308Q|MTA3_ENST00000472767.1_3'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	308	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E308Q(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TAGCATCATTGAATATTATTA	0.279																																																1	Substitution - Missense(1)	ovary(1)	2											38.0	36.0	37.0					2																	42922935		1799	4041	5840	42776439	SO:0001583	missense	57504			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.922G>C	2.37:g.42922935G>C	ENSP00000385823:p.Glu308Gln		42776439	Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919096	0.52546	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.01	4.13	0.48395	.	0.254563	0.39985	N	0.001210	T	0.42040	0.1185	L	0.38531	1.155	0.80722	D	1	B;P;P	0.47677	0.26;0.794;0.899	B;B;P	0.49332	0.117;0.444;0.607	T	0.22765	-1.0207	10	0.41790	T	0.15	-17.5276	13.0323	0.58848	0.0788:0.0:0.9212:0.0	.	308;308;252	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	Q	252;252;308;308;308;308	ENSP00000383973:E252Q;ENSP00000384249:E252Q;ENSP00000385045:E308Q;ENSP00000385241:E308Q;ENSP00000385823:E308Q	ENSP00000282366:E308Q	E	+	1	0	MTA3	42776439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	1.115000	0.41800	0.655000	0.94253	GAA		0.279	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		Missense_Mutation
NRXN1	9378	broad.mit.edu	37	2	50758414	50758414	+	Silent	SNP	G	G	T			TCGA-24-1423-01	TCGA-24-1423-10			G	T	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr2:50758414G>T	ENST00000406316.2	-	11	3774	c.2298C>A	c.(2296-2298)acC>acA	p.T766T	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.T766T|NRXN1_ENST00000405472.3_Silent_p.T758T|NRXN1_ENST00000401669.2_Silent_p.T766T|NRXN1_ENST00000402717.3_Silent_p.T758T|NRXN1_ENST00000404971.1_Silent_p.T806T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	766	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.T766T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGCGGAGGGTGTCAGCAG	0.493																																																1	Substitution - coding silent(1)	ovary(1)	2											67.0	73.0	71.0					2																	50758414		2074	4235	6309	50611918	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2298C>A	2.37:g.50758414G>T			50611918	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1	SNP	43	Broad																																																																																				0.493	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			Silent
PTPN18	26469	broad.mit.edu	37	2	131116825	131116825	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01	TCGA-24-1423-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr2:131116825C>G	ENST00000175756.5	+	3	323	c.222C>G	c.(220-222)atC>atG	p.I74M	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	74	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.I74M(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CGCGAGTAATCCTCTCCCTGC	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											87.0	89.0	88.0					2																	131116825		2203	4300	6503	130833295	SO:0001583	missense	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.222C>G	2.37:g.131116825C>G	ENSP00000175756:p.Ile74Met		130833295	B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351016	0.24512	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	D	0.83755	-1.76	4.34	1.46	0.22682	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.32703	N	0.005757	D	0.83571	0.5283	L	0.49640	1.575	0.20703	N	0.999864	P;D	0.53151	0.934;0.958	P;P	0.61874	0.799;0.895	T	0.72849	-0.4168	10	0.59425	D	0.04	.	4.4518	0.11624	0.1828:0.6353:0.0:0.1819	.	74;74	E7EMB8;Q99952	.;PTN18_HUMAN	M	74	ENSP00000175756:I74M	ENSP00000175756:I74M	I	+	3	3	PTPN18	130833295	0.010000	0.17322	0.302000	0.25058	0.505000	0.33919	-0.206000	0.09398	0.159000	0.19401	0.563000	0.77884	ATC		0.562	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			Missense_Mutation
ZEB2	9839	broad.mit.edu	37	2	145147303	145147303	+	Silent	SNP	C	C	A	rs398124280		TCGA-24-1423-01	TCGA-24-1423-10			C	A	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr2:145147303C>A	ENST00000558170.2	-	10	4544	c.3360G>T	c.(3358-3360)ggG>ggT	p.G1120G	ZEB2_ENST00000409487.3_Silent_p.G1120G|ZEB2_ENST00000539609.3_Silent_p.G1096G|ZEB2_ENST00000303660.4_Silent_p.G1120G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1120	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.G1120G(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGTCAGAGTACCCCTGAGGGG	0.627																																					Melanoma(33;1235 1264 5755 16332)											1	Substitution - coding silent(1)	ovary(1)	2											105.0	97.0	99.0					2																	145147303		2203	4300	6503	144863773	SO:0001819	synonymous_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3360G>T	2.37:g.145147303C>A			144863773	A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	CCDS2186.1	SNP	18	Broad																																																																																				0.627	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		Silent
TTN	7273	broad.mit.edu	37	2	179454011	179454011	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01	TCGA-24-1423-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr2:179454011C>G	ENST00000591111.1	-	254	57742	c.57518G>C	c.(57517-57519)aGa>aCa	p.R19173T	TTN_ENST00000460472.2_Missense_Mutation_p.R11749T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18246T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20814T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11941T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11874T|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19173	Ig-like 108.				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.R11749T(1)|p.R18244T(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)			CCTTGGTGATCTTGTTAAGTC	0.453																																																2	Substitution - Missense(2)	ovary(2)	2											165.0	166.0	166.0					2																	179454011		1932	4131	6063	179162257	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.57518G>C	2.37:g.179454011C>G	ENSP00000465570:p.Arg19173Thr		179162257	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	32	Broad	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384203	0.25031	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.02	6.02	0.97574	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56140	0.1965	N	0.16833	0.445	0.35686	D	0.814462	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.51550	0.673;0.673;0.673;0.673	T	0.66972	-0.5788	9	0.87932	D	0	.	10.8017	0.46493	0.0:0.8605:0.0:0.1395	.	11749;11874;11941;19173	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18246;11749;11941;11874;11747	ENSP00000343764:R18246T;ENSP00000434586:R11749T;ENSP00000340554:R11941T;ENSP00000352154:R11874T	ENSP00000340554:R11941T	R	-	2	0	TTN	179162257	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.339000	0.43965	2.857000	0.98124	0.650000	0.86243	AGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
SYNJ1	8867	broad.mit.edu	37	21	34004044	34004044	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01	TCGA-24-1423-10			A	G	A	A	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr21:34004044A>G	ENST00000322229.7	-	31	3982	c.3983T>C	c.(3982-3984)cTg>cCg	p.L1328P	SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1367P|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1281P			O43426	SYNJ1_HUMAN	synaptojanin 1	1328	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.L1328P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATTAAATGACAGATCTTCAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	21											91.0	89.0	90.0					21																	34004044		2203	4300	6503	32925915	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3983T>C	21.37:g.34004044A>G	ENSP00000322234:p.Leu1328Pro		32925915	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951148	0.73787	.	.	ENSG00000159082	ENST00000382491;ENST00000433931;ENST00000322229	D;D;D	0.94376	-3.41;-3.08;-3.06	5.22	5.22	0.72569	.	0.273104	0.31041	N	0.008371	D	0.95414	0.8511	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.95704	0.8752	10	0.62326	D	0.03	.	15.3983	0.74816	1.0:0.0:0.0:0.0	.	1328	O43426	SYNJ1_HUMAN	P	1281;1367;1328	ENSP00000371931:L1281P;ENSP00000409667:L1367P;ENSP00000322234:L1328P	ENSP00000322234:L1328P	L	-	2	0	SYNJ1	32925915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.361000	0.73070	2.104000	0.64026	0.533000	0.62120	CTG		0.413	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				Missense_Mutation
NDUFV3	4731	broad.mit.edu	37	21	44323480	44323480	+	Intron	SNP	A	A	G			TCGA-24-1423-01	TCGA-24-1423-10			A	G	A	A	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr21:44323480A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.T120A|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)	p.T120A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GTCAAGAAAGACTTTGGTAGA	0.507																																																1	Substitution - Missense(1)	ovary(1)	21											133.0	147.0	142.0					21																	44323480		2203	4300	6503	43196549	SO:0001627	intron_variant	4731				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5494A>G	21.37:g.44323480A>G			43196549	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	CCDS33573.1	SNP	10	Broad	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539132	0.85917	.	.	ENSG00000160194	ENST00000354250	T	0.40225	1.04	5.84	5.84	0.93424	.	0.131096	0.51477	D	0.000094	T	0.63129	0.2485	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66352	-0.5945	10	0.87932	D	0	-20.5665	14.4434	0.67333	1.0:0.0:0.0:0.0	.	120	P56181-2	.	A	120	ENSP00000346196:T120A	ENSP00000346196:T120A	T	+	1	0	NDUFV3	43196549	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	4.265000	0.58865	2.227000	0.72691	0.533000	0.62120	ACT		0.507	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			Missense_Mutation
BID	637	broad.mit.edu	37	22	18226601	18226601	+	Missense_Mutation	SNP	C	C	G	rs201438109		TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr22:18226601C>G	ENST00000399774.3	-	3	360	c.191G>C	c.(190-192)aGc>aCc	p.S64T	BID_ENST00000317361.7_Missense_Mutation_p.S110T|BID_ENST00000551952.1_Missense_Mutation_p.S64T|BID_ENST00000342111.5_Missense_Mutation_p.S64T|BID_ENST00000399767.1_5'UTR|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Intron	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	64					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.S110T(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GGAGTGGCTGCTGCGGTTGCC	0.637																																																1	Substitution - Missense(1)	ovary(1)	22											24.0	27.0	26.0					22																	18226601		2202	4297	6499	16606601	SO:0001583	missense	637			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.191G>C	22.37:g.18226601C>G	ENSP00000382674:p.Ser64Thr		16606601	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	CCDS13748.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915522	0.33815	.	.	ENSG00000015475	ENST00000317361;ENST00000399774;ENST00000342111;ENST00000551952	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.48	-7.87	0.01183	.	1.153560	0.06208	N	0.684440	T	0.17662	0.0424	L	0.50333	1.59	0.22424	N	0.999112	B;B	0.14805	0.005;0.011	B;B	0.21708	0.026;0.036	T	0.37641	-0.9697	10	0.41790	T	0.15	.	2.5945	0.04850	0.2338:0.4568:0.1511:0.1583	.	64;110	P55957;P55957-2	BID_HUMAN;.	T	110;64;64;64	ENSP00000318822:S110T;ENSP00000382674:S64T;ENSP00000344594:S64T;ENSP00000449236:S64T	ENSP00000318822:S110T	S	-	2	0	BID	16606601	0.008000	0.16893	0.000000	0.03702	0.008000	0.06430	-0.168000	0.09925	-1.138000	0.02884	-0.311000	0.09066	AGC		0.637	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		Missense_Mutation
UBA7	7318	broad.mit.edu	37	3	49842262	49842262	+	IGR	SNP	C	C	T	rs144945954		TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:49842262C>T	ENST00000333486.3	-	0	3299				FAM212A_ENST00000333323.4_Missense_Mutation_p.R236W|MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.R236W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTTCGGCGCCGGCTGGCCAG	0.672																																																1	Substitution - Missense(1)	ovary(1)	3						C	TRP/ARG	0,4406		0,0,2203	60.0	70.0	67.0		706	1.6	1.0	3	dbSNP_134	67	1,8595		0,1,4297	no	missense	C3orf54	NM_203370.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	236/288	49842262	1,13001	2203	4298	6501	49817266	SO:0001628	intergenic_variant	389119			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49842262C>T			49817266	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	18.79	3.697909	0.68386	0.0	1.16E-4	ENSG00000185614	ENST00000333323	.	.	.	5.8	1.62	0.23740	.	0.272597	0.26203	N	0.025735	T	0.59676	0.2211	L	0.40543	1.245	0.39021	D	0.959753	D	0.71674	0.998	P	0.56916	0.809	T	0.63346	-0.6658	9	0.87932	D	0	.	11.5355	0.50634	0.5137:0.3844:0.1019:0.0	.	234	Q96EL1	CC054_HUMAN	W	236	.	ENSP00000329735:R236W	R	+	1	2	C3orf54	49817266	0.622000	0.27085	0.997000	0.53966	0.989000	0.77384	1.227000	0.32576	0.302000	0.22762	0.655000	0.94253	CGG		0.672	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		Missense_Mutation
CBLB	868	broad.mit.edu	37	3	105400587	105400587	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:105400587G>C	ENST00000264122.4	-	15	2598	c.2277C>G	c.(2275-2277)gaC>gaG	p.D759E	CBLB_ENST00000394027.3_Missense_Mutation_p.D781E|CBLB_ENST00000403724.1_Missense_Mutation_p.D759E|CBLB_ENST00000407712.1_Missense_Mutation_p.D18E|CBLB_ENST00000405772.1_Missense_Mutation_p.D759E	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	759	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D759E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATATGCTTAAGTCAGGGATGT	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	1	Substitution - Missense(1)	ovary(1)	3											97.0	101.0	100.0					3																	105400587		2203	4300	6503	106883277	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2277C>G	3.37:g.105400587G>C	ENSP00000264122:p.Asp759Glu		106883277	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	CCDS2948.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	0.909	-0.719539	0.03182	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027;ENST00000403724;ENST00000405772	T;D;T;D;D;D	0.83250	-0.98;-1.56;-1.11;-1.7;-1.66;-1.6	5.96	-5.05	0.02955	.	0.405999	0.30338	N	0.009842	T	0.50701	0.1631	N	0.02247	-0.625	0.58432	D	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.05468	-1.0883	10	0.87932	D	0	-5.8485	1.3654	0.02200	0.1704:0.2624:0.1707:0.3965	.	781;759;759;781	E7ENW2;Q13191-3;Q13191;B4DYP3	.;.;CBLB_HUMAN;.	E	142;759;18;781;759;759	ENSP00000377598:D142E;ENSP00000264122:D759E;ENSP00000384170:D18E;ENSP00000377595:D781E;ENSP00000384816:D759E;ENSP00000384938:D759E	ENSP00000264122:D759E	D	-	3	2	CBLB	106883277	0.290000	0.24343	0.892000	0.35008	0.944000	0.59088	-0.637000	0.05459	-0.850000	0.04152	-0.353000	0.07706	GAC		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		Missense_Mutation
STXBP5L	9515	broad.mit.edu	37	3	120957911	120957911	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:120957911T>G	ENST00000273666.6	+	13	1549	c.1278T>G	c.(1276-1278)atT>atG	p.I426M	STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426M|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I426M(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGGATTTGATTCTAGTACTGT	0.313																																																1	Substitution - Missense(1)	ovary(1)	3											53.0	50.0	51.0					3																	120957911		1834	4093	5927	122440601	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1278T>G	3.37:g.120957911T>G	ENSP00000273666:p.Ile426Met		122440601	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581531	0.28180	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.39406	1.77;1.77;1.57;1.08;1.57;1.78	4.97	2.49	0.30216	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.58775	-0.7577	10	0.56958	D	0.05	-30.5866	5.4905	0.16773	0.1293:0.1466:0.0:0.7241	.	426;426	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	M	426	ENSP00000273666:I426M;ENSP00000420019:I426M;ENSP00000419627:I426M;ENSP00000420287:I426M;ENSP00000420666:I426M;ENSP00000420167:I426M	ENSP00000273666:I426M	I	+	3	3	STXBP5L	122440601	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	1.965000	0.40471	0.342000	0.23796	0.533000	0.62120	ATT		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			Missense_Mutation
FBXO40	51725	broad.mit.edu	37	3	121345659	121345659	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:121345659C>A	ENST00000338040.4	+	4	2446	c.2032C>A	c.(2032-2034)Ccg>Acg	p.P678T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	678					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P678T(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAAACTGACCCGATTCTTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											115.0	111.0	113.0					3																	121345659		2203	4300	6503	122828349	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2032C>A	3.37:g.121345659C>A	ENSP00000337510:p.Pro678Thr		122828349	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035186	0.93575	.	.	ENSG00000163833	ENST00000338040	T	0.35973	1.28	6.17	6.17	0.99709	.	0.050909	0.85682	D	0.000000	T	0.61085	0.2319	M	0.68593	2.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.59225	-0.7494	10	0.66056	D	0.02	-15.0266	18.3732	0.90420	0.0:1.0:0.0:0.0	.	678	Q9UH90	FBX40_HUMAN	T	678	ENSP00000337510:P678T	ENSP00000337510:P678T	P	+	1	0	FBXO40	122828349	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.973000	0.56845	2.941000	0.99782	0.655000	0.94253	CCG		0.478	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		Missense_Mutation
KLF15	28999	broad.mit.edu	37	3	126070787	126070787	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:126070787C>A	ENST00000296233.3	-	2	1209	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	327					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.G327C(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TTGCTGCAGCCAGGGAAAGTA	0.627																																																1	Substitution - Missense(1)	ovary(1)	3											72.0	74.0	73.0					3																	126070787		2202	4300	6502	127553477	SO:0001583	missense	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.979G>T	3.37:g.126070787C>A	ENSP00000296233:p.Gly327Cys		127553477		Missense_Mutation	SNP	ENST00000296233.3	37	CCDS3036.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347129	0.82022	.	.	ENSG00000163884	ENST00000296233	T	0.10477	2.87	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07139	-1.0788	10	0.87932	D	0	.	16.9708	0.86298	0.0:1.0:0.0:0.0	.	327	Q9UIH9	KLF15_HUMAN	C	327	ENSP00000296233:G327C	ENSP00000296233:G327C	G	-	1	0	KLF15	127553477	1.000000	0.71417	0.962000	0.40283	0.975000	0.68041	7.759000	0.85235	2.688000	0.91661	0.491000	0.48974	GGC		0.627	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		Missense_Mutation
RAB7A	7879	broad.mit.edu	37	3	128516791	128516791	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:128516791G>C	ENST00000265062.3	+	3	305	c.59G>C	c.(58-60)gGg>gCg	p.G20A	RAB7A_ENST00000482525.1_Missense_Mutation_p.G20A|RAB7A_ENST00000485280.1_Missense_Mutation_p.G20A	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TTCAGAGTCGGGAAGACATCA	0.403																																																0			3											112.0	103.0	106.0					3																	128516791		2203	4300	6503	129999481	SO:0001583	missense	7879			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.59G>C	3.37:g.128516791G>C	ENSP00000265062:p.Gly20Ala		129999481	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	CCDS3052.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	32	5.189434	0.94923	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	D;D;D;D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87;-5.07;-5.87;-3.23	5.69	5.69	0.88448	Small GTP-binding protein domain (1);	.	.	.	.	D	0.99764	0.9904	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97226	0.9881	9	0.87932	D	0	-1.0196	19.7977	0.96492	0.0:0.0:1.0:0.0	.	20;20	C9J8S3;P51149	.;RAB7A_HUMAN	A	20	ENSP00000265062:G20A;ENSP00000417668:G20A;ENSP00000417978:G20A;ENSP00000418955:G20A;ENSP00000417189:G20A;ENSP00000417155:G20A;ENSP00000418283:G20A	ENSP00000265062:G20A	G	+	2	0	RAB7A	129999481	1.000000	0.71417	0.167000	0.22817	0.391000	0.30476	9.010000	0.93611	2.698000	0.92095	0.655000	0.94253	GGG		0.403	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			Missense_Mutation
COL6A5	256076	broad.mit.edu	37	3	130159638	130159638	+	Silent	SNP	G	G	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:130159638G>A	ENST00000432398.2	+	35	6950	c.6456G>A	c.(6454-6456)aaG>aaA	p.K2152K	COL6A5_ENST00000265379.6_Silent_p.K2152K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2152	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K191K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATATTGCGAAGTTCTTAAAGC	0.358																																																1	Substitution - coding silent(1)	ovary(1)	3											63.0	58.0	60.0					3																	130159638		1845	4092	5937	131642328	SO:0001819	synonymous_variant	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6456G>A	3.37:g.130159638G>A			131642328	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37		SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	0.974	-0.699235	0.03279	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.87	3.09	0.35607	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55636	-0.8110	4	.	.	.	.	9.0378	0.36298	0.2693:0.0:0.7307:0.0	.	.	.	.	I	404	.	.	V	+	1	0	COL6A5	131642328	1.000000	0.71417	0.993000	0.49108	0.215000	0.24574	0.702000	0.25631	1.487000	0.48415	0.655000	0.94253	GTT		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		Silent
TFRC	7037	broad.mit.edu	37	3	195780356	195780356	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr3:195780356G>C	ENST00000360110.4	-	18	2142	c.1973C>G	c.(1972-1974)aCa>aGa	p.T658R	TFRC_ENST00000420415.1_Missense_Mutation_p.T577R|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.T376R|TFRC_ENST00000392396.3_Missense_Mutation_p.T658R	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	658	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.T658R(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCCGAAATCTGTTGTTAGTCT	0.423			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	1	Substitution - Missense(1)	ovary(1)	3											154.0	149.0	151.0					3																	195780356		2203	4300	6503	197264753	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1973C>G	3.37:g.195780356G>C	ENSP00000353224:p.Thr658Arg		197264753	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	1.605	-0.525408	0.04141	.	.	ENSG00000072274	ENST00000426789;ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.6	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.472734	0.23698	N	0.045458	T	0.32852	0.0843	L	0.29908	0.895	0.28645	N	0.906982	B	0.31752	0.338	B	0.21151	0.033	T	0.13124	-1.0521	10	0.14656	T	0.56	-11.6932	9.5331	0.39207	0.0:0.1302:0.6451:0.2246	.	658	P02786	TFR1_HUMAN	R	70;658;577;658;376	ENSP00000414015:T70R;ENSP00000353224:T658R;ENSP00000390133:T577R;ENSP00000376197:T658R;ENSP00000437753:T376R	ENSP00000353224:T658R	T	-	2	0	TFRC	197264753	0.548000	0.26473	0.774000	0.31636	0.245000	0.25701	1.175000	0.31944	2.635000	0.89317	0.655000	0.94253	ACA		0.423	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			Missense_Mutation
RFC1	5981	broad.mit.edu	37	4	39328200	39328200	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr4:39328200G>C	ENST00000381897.1	-	6	758	c.625C>G	c.(625-627)Ctt>Gtt	p.L209V	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.L209V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	209					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.L209V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTCATCAAGCTGTAATTGC	0.358																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											1	Substitution - Missense(1)	ovary(1)	4											118.0	106.0	110.0					4																	39328200		2203	4299	6502	39004595	SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.625C>G	4.37:g.39328200G>C	ENSP00000371321:p.Leu209Val		39004595	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128050	0.37533	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.54279	0.58;0.58	5.53	4.61	0.57282	.	0.312793	0.34628	N	0.003811	T	0.55321	0.1913	M	0.66939	2.045	0.43191	D	0.995023	B;B	0.33940	0.307;0.433	B;B	0.40009	0.168;0.316	T	0.51284	-0.8725	10	0.14656	T	0.56	-11.9984	17.0751	0.86584	0.0:0.0:0.8645:0.1355	.	209;209	P35251;P35251-2	RFC1_HUMAN;.	V	209	ENSP00000371321:L209V;ENSP00000261424:L209V	ENSP00000261424:L209V	L	-	1	0	RFC1	39004595	1.000000	0.71417	0.994000	0.49952	0.606000	0.37113	3.102000	0.50291	2.605000	0.88082	0.650000	0.86243	CTT		0.358	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		Missense_Mutation
USP46	64854	broad.mit.edu	37	4	53476722	53476722	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr4:53476722A>G	ENST00000441222.3	-	5	807	c.623T>C	c.(622-624)aTt>aCt	p.I208T	USP46_ENST00000451218.2_Missense_Mutation_p.I181T|USP46_ENST00000508499.1_Missense_Mutation_p.I201T	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	208	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I208T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACAGTGGGTAATGGATGTATT	0.363																																																1	Substitution - Missense(1)	ovary(1)	4											80.0	76.0	78.0					4																	53476722		1974	4172	6146	53171479	SO:0001583	missense	64854			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.623T>C	4.37:g.53476722A>G	ENSP00000407818:p.Ile208Thr		53171479	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265390	0.80358	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.07444	3.19;3.19;3.19	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000010	T	0.42063	0.1186	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;1.0;1.0	D;D;D;D	0.97110	0.978;0.988;1.0;0.994	T	0.58607	-0.7607	10	0.87932	D	0	-18.4717	15.18	0.72947	1.0:0.0:0.0:0.0	.	92;196;208;201	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	T	208;181;201	ENSP00000407818:I208T;ENSP00000390102:I181T;ENSP00000423244:I201T	ENSP00000407818:I208T	I	-	2	0	USP46	53171479	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.287000	0.95975	2.179000	0.69175	0.482000	0.46254	ATT		0.363	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832		Missense_Mutation
CEP72	55722	broad.mit.edu	37	5	624630	624630	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr5:624630C>T	ENST00000264935.5	+	4	538	c.448C>T	c.(448-450)Cat>Tat	p.H150Y	CEP72_ENST00000444221.1_Missense_Mutation_p.H150Y	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	150	LRRCT.				G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.H150Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTCCCGACTGCATTTTGCATC	0.567																																																1	Substitution - Missense(1)	ovary(1)	5											84.0	77.0	79.0					5																	624630		2203	4300	6503	677630	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.448C>T	5.37:g.624630C>T	ENSP00000264935:p.His150Tyr		677630	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554531	0.27739	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.18016	2.94;2.24	5.32	4.45	0.53987	.	0.127926	0.53938	D	0.000052	T	0.29423	0.0733	L	0.60957	1.885	0.38573	D	0.95	D	0.64830	0.994	P	0.55055	0.767	T	0.11060	-1.0603	10	0.62326	D	0.03	-10.4372	11.4932	0.50394	0.0:0.9146:0.0:0.0854	.	150	Q9P209	CEP72_HUMAN	Y	150	ENSP00000264935:H150Y;ENSP00000392052:H150Y	ENSP00000264935:H150Y	H	+	1	0	CEP72	677630	1.000000	0.71417	0.250000	0.24296	0.005000	0.04900	4.355000	0.59424	1.375000	0.46248	-0.136000	0.14681	CAT		0.567	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		Missense_Mutation
ADCY2	108	broad.mit.edu	37	5	7626422	7626422	+	Missense_Mutation	SNP	G	G	A	rs144846733		TCGA-24-1423-01	TCGA-24-1423-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr5:7626422G>A	ENST00000338316.4	+	4	802	c.713G>A	c.(712-714)cGt>cAt	p.R238H		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	238					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R238H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTGAAAAACGTCAACAGGTA	0.378																																																1	Substitution - Missense(1)	ovary(1)	5						G	HIS/ARG	0,4406		0,0,2203	106.0	99.0	102.0		713	4.2	1.0	5	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY2	NM_020546.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	238/1092	7626422	1,13005	2203	4300	6503	7679422	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.713G>A	5.37:g.7626422G>A	ENSP00000342952:p.Arg238His		7679422	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475756	0.44044	0.0	1.16E-4	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681	T	0.76839	-1.05	5.09	4.22	0.49857	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.129142	0.50627	D	0.000117	T	0.62563	0.2438	N	0.25245	0.725	0.80722	D	1	B	0.32507	0.373	B	0.26094	0.066	T	0.63726	-0.6572	10	0.54805	T	0.06	.	11.0214	0.47720	0.0861:0.0:0.9139:0.0	.	238	Q08462	ADCY2_HUMAN	H	238;89;27	ENSP00000342952:R238H	ENSP00000342952:R238H	R	+	2	0	ADCY2	7679422	1.000000	0.71417	0.980000	0.43619	0.921000	0.55340	4.623000	0.61247	1.272000	0.44329	0.655000	0.94253	CGT		0.378	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		Missense_Mutation
OSMR	9180	broad.mit.edu	37	5	38933452	38933452	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1423-01	TCGA-24-1423-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr5:38933452T>C	ENST00000274276.3	+	18	3248	c.2846T>C	c.(2845-2847)aTg>aCg	p.M949T		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	949					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.M949T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAATGCAAATGGCAGTCTCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	5											127.0	130.0	129.0					5																	38933452		2203	4300	6503	38969209	SO:0001583	missense	9180			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2846T>C	5.37:g.38933452T>C	ENSP00000274276:p.Met949Thr		38969209	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991339	0.35131	.	.	ENSG00000145623	ENST00000274276	T	0.54479	0.57	5.79	4.61	0.57282	.	0.090404	0.48767	N	0.000164	T	0.46639	0.1403	M	0.61703	1.905	0.34066	D	0.65791	B	0.27498	0.18	B	0.20577	0.03	T	0.56595	-0.7953	10	0.45353	T	0.12	.	8.8163	0.34998	0.0:0.0858:0.0:0.9142	.	949	Q99650	OSMR_HUMAN	T	949	ENSP00000274276:M949T	ENSP00000274276:M949T	M	+	2	0	OSMR	38969209	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.624000	0.37018	0.977000	0.38444	0.533000	0.62120	ATG		0.498	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		Missense_Mutation
MED23	9439	broad.mit.edu	37	6	131917304	131917304	+	Splice_Site	SNP	C	C	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr6:131917304C>G	ENST00000368068.3	-	22	2958		c.e22-1		MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000545957.1_Splice_Site	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGGATATTTCTGTGGAATTG	0.368																																																0			6											64.0	68.0	67.0					6																	131917304		2202	4299	6501	131958997	SO:0001630	splice_region_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2779-1G>C	6.37:g.131917304C>G			131958997	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Splice_Site_SNP	SNP	ENST00000368068.3	37	CCDS5147.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167460	0.78339	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9369	0.97144	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED23	131958997	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.815000	0.86186	2.704000	0.92352	0.644000	0.83932	.		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		Intron	Splice_Site_SNP
SPDYE1	285955	broad.mit.edu	37	7	44046936	44046936	+	Silent	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr7:44046936G>C	ENST00000258704.3	+	5	839	c.702G>C	c.(700-702)ggG>ggC	p.G234G	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	234								p.G234G(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCCTGTATGGGAAGAACCGCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	7											147.0	148.0	147.0					7																	44046936		2203	4300	6503	44013461	SO:0001819	synonymous_variant	285955			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.702G>C	7.37:g.44046936G>C			44013461	Q9NTH5	Silent	SNP	ENST00000258704.3	37	CCDS5475.1	SNP	41	Broad																																																																																				0.547	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		Silent
MDH2	4191	broad.mit.edu	37	7	75695631	75695631	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr7:75695631A>G	ENST00000315758.5	+	9	1014	c.920A>G	c.(919-921)aAa>aGa	p.K307R	MDH2_ENST00000443006.1_Missense_Mutation_p.K200R|MDH2_ENST00000432020.2_Missense_Mutation_p.K265R	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	307					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)	p.K307R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						GGCATCGGCAAAGTCTCCTCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											76.0	72.0	73.0					7																	75695631		2203	4300	6503	75533567	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.920A>G	7.37:g.75695631A>G	ENSP00000327070:p.Lys307Arg		75533567	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	CCDS5581.1	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630549	0.46944	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.68903	-0.36;-0.36;-0.36	5.41	5.41	0.78517	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.042118	0.85682	D	0.000000	T	0.74168	0.3681	M	0.69185	2.1	0.58432	D	0.999998	P;P	0.45768	0.866;0.504	P;B	0.51974	0.686;0.437	T	0.74893	-0.3509	10	0.42905	T	0.14	-16.7401	14.6204	0.68579	1.0:0.0:0.0:0.0	.	265;307	E9PDB2;P40926	.;MDHM_HUMAN	R	307;200;265	ENSP00000327070:K307R;ENSP00000416929:K200R;ENSP00000408649:K265R	ENSP00000327070:K307R	K	+	2	0	MDH2	75533567	1.000000	0.71417	0.827000	0.32855	0.018000	0.09664	6.162000	0.71874	2.050000	0.60909	0.533000	0.62120	AAA		0.502	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			Missense_Mutation
ACTL6B	51412	broad.mit.edu	37	7	100243919	100243919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr7:100243919C>A	ENST00000160382.5	-	13	1259	c.1153G>T	c.(1153-1155)Gag>Tag	p.E385*		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	385					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.E385*(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AACTTGCGCTCCATGGTGCTG	0.607																																																1	Substitution - Nonsense(1)	ovary(1)	7											75.0	64.0	68.0					7																	100243919		2203	4300	6503	100081855	SO:0001587	stop_gained	51412			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1153G>T	7.37:g.100243919C>A	ENSP00000160382:p.Glu385*		100081855	A4D2D0|O75421	Nonsense_Mutation	SNP	ENST00000160382.5	37	CCDS5702.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	37	6.624445	0.97714	.	.	ENSG00000077080	ENST00000160382	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3537	0.87330	0.0:1.0:0.0:0.0	.	.	.	.	X	385	.	ENSP00000160382:E385X	E	-	1	0	ACTL6B	100081855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.252000	0.78309	2.710000	0.92621	0.655000	0.94253	GAG		0.607	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		Nonsense_Mutation
CUX1	1523	broad.mit.edu	37	7	101844882	101844882	+	Missense_Mutation	SNP	G	G	A	rs147920735	byFrequency	TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr7:101844882G>A	ENST00000292535.7	+	18	2343	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	CUX1_ENST00000360264.3_Missense_Mutation_p.A780T|CUX1_ENST00000550008.2_Missense_Mutation_p.A713T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A611T|CUX1_ENST00000546411.2_Missense_Mutation_p.A667T|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.A747T|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	769					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A769T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGCCCTCCGCAGCTCCTGA	0.672													G|||	7	0.00139776	0.0053	0.0	5008	,	,		14687	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	7						G	THR/ALA,,,,,,THR/ALA	17,4389	25.3+/-52.1	0,17,2186	100.0	110.0	107.0		2338,,,,,,2305	-10.6	0.0	7	dbSNP_134	107	0,8600		0,0,4300	yes	missense,intron,intron,intron,intron,intron,missense	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	58,,,,,,58	0,17,6486	AA,AG,GG		0.0,0.3858,0.1307	benign,,,,,,benign	780/1517,,,,,,769/1506	101844882	17,12989	2203	4300	6503	101631602	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2305G>A	7.37:g.101844882G>A	ENSP00000292535:p.Ala769Thr		101631602	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	SNP	38	Broad	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.23	1.293385	0.23564	0.003858	0.0	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	5.32	-10.6	0.00265	.	0.710645	0.13957	N	0.351096	T	0.14270	0.0345	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.14531	-1.0469	10	0.14656	T	0.56	0.7644	1.2494	0.01979	0.2699:0.1149:0.2984:0.3167	.	769;780	P39880;P39880-3	CUX1_HUMAN;.	T	780;769;747;713;667;611	ENSP00000353401:A780T;ENSP00000292535:A769T;ENSP00000446630:A747T;ENSP00000447373:A713T;ENSP00000450125:A667T;ENSP00000451558:A611T	ENSP00000292535:A769T	A	+	1	0	CUX1	101631602	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.649000	0.05384	-2.423000	0.00562	0.563000	0.77884	GCA		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		Missense_Mutation
MGAM	8972	broad.mit.edu	37	7	141731568	141731568	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1423-01	TCGA-24-1423-10			A	T	A	A	Unknown	Valid	Somatic	x	x	454_PCR_WGA			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr7:141731568A>T	ENST00000549489.2	+	13	1654	c.1559A>T	c.(1558-1560)cAa>cTa	p.Q520L	MGAM_ENST00000475668.2_Missense_Mutation_p.Q520L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	520	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q520L(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCACAATCAAGTAGAGTTT	0.373																																																1	Substitution - Missense(1)	ovary(1)	7											162.0	151.0	154.0					7																	141731568		1839	4086	5925	141378037	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1559A>T	7.37:g.141731568A>T	ENSP00000447378:p.Gln520Leu		141378037	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	A	11.27	1.587995	0.28268	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91295	-2.82	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.382752	0.22531	N	0.058850	D	0.85885	0.5801	L	0.43152	1.355	0.26210	N	0.97931	B	0.09022	0.002	B	0.06405	0.002	T	0.75019	-0.3465	10	0.34782	T	0.22	.	10.9021	0.47058	0.8427:0.1573:0.0:0.0	.	520	O43451	MGA_HUMAN	L	520;520;397	ENSP00000447378:Q520L	ENSP00000316431:Q397L	Q	+	2	0	MGAM	141378037	0.287000	0.24315	0.885000	0.34714	0.062000	0.15995	1.145000	0.31577	2.239000	0.73571	0.533000	0.62120	CAA		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			Missense_Mutation
ATG9B	285973	broad.mit.edu	37	7	150714258	150714258	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr7:150714258C>A	ENST00000377974.2	-	9	2229	c.2154G>T	c.(2152-2154)tgG>tgT	p.W718C	ATG9B_ENST00000444312.1_Missense_Mutation_p.W204C|ATG9B_ENST00000605938.1_Missense_Mutation_p.W718C|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	718					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.W718C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGGGGCGCCAGAGTGGAT	0.652																																																1	Substitution - Missense(1)	ovary(1)	7											22.0	28.0	26.0					7																	150714258		1951	4143	6094	150345191	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2154G>T	7.37:g.150714258C>A	ENSP00000475005:p.Trp718Cys		150345191	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37		SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816810	0.32145	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	.	.	.	.	.	.	D	0.89917	1.0	D	0.97110	1.0	D	0.83497	0.0073	7	0.72032	D	0.01	-5.0247	15.7231	0.77728	0.0:1.0:0.0:0.0	.	718	Q674R7	ATG9B_HUMAN	C	718;204;718	.	ENSP00000444232:W718C	W	-	3	0	AC010973.1	150345191	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.726000	0.84824	2.286000	0.76751	0.491000	0.48974	TGG		0.652	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		Missense_Mutation
EMC2	9694	broad.mit.edu	37	8	109482112	109482112	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chr8:109482112A>G	ENST00000220853.3	+	6	456	c.421A>G	c.(421-423)Att>Gtt	p.I141V	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	141						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I141V(1)									TGTGGAGGCCATTCGGGAGCT	0.378																																																1	Substitution - Missense(1)	ovary(1)	8											76.0	82.0	80.0					8																	109482112		2203	4300	6503	109551288	SO:0001583	missense	9694			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.421A>G	8.37:g.109482112A>G	ENSP00000220853:p.Ile141Val		109551288	Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	CCDS6309.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500992	0.44455	.	.	ENSG00000104412	ENST00000220853	T	0.77750	-1.12	5.62	4.46	0.54185	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.55017	1.72	0.80722	D	1	P	0.38473	0.633	B	0.33799	0.17	T	0.67810	-0.5574	10	0.35671	T	0.21	-15.3443	11.8053	0.52152	0.931:0.0:0.069:0.0	.	141	Q15006	TTC35_HUMAN	V	141	ENSP00000220853:I141V	ENSP00000220853:I141V	I	+	1	0	TTC35	109551288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.100000	0.76989	1.056000	0.40484	0.528000	0.53228	ATT		0.378	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		Missense_Mutation
NLGN4X	57502	broad.mit.edu	37	X	5811458	5811458	+	Silent	SNP	G	G	A			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chrX:5811458G>A	ENST00000381095.3	-	6	2478	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	NLGN4X_ENST00000275857.6_Silent_p.D617D|NLGN4X_ENST00000381093.2_Silent_p.D637D|NLGN4X_ENST00000381092.1_Silent_p.D617D|NLGN4X_ENST00000538097.1_Silent_p.D617D	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	617					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.D617D(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGATGTCATGTCTGGTGGAG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	X											126.0	107.0	113.0					X																	5811458		2203	4297	6500	5821458	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1851C>T	X.37:g.5811458G>A			5821458	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1	SNP	48	Broad																																																																																				0.488	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		Silent
FAAH2	158584	broad.mit.edu	37	X	57319015	57319015	+	Splice_Site	SNP	T	T	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chrX:57319015T>G	ENST00000374900.4	+	2	395		c.e2+2			NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.?(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAAGTACAGGTGAGCATTTCC	0.383										HNSCC(52;0.14)																																						1	Unknown(1)	ovary(1)	X											155.0	139.0	144.0					X																	57319015		2203	4300	6503	57335740	SO:0001630	splice_region_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.275+2T>G	X.37:g.57319015T>G			57335740	Q86VT2|Q96N98	Splice_Site_SNP	SNP	ENST00000374900.4	37	CCDS14375.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292080	0.40594	.	.	ENSG00000165591	ENST00000374900	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2418	0.26100	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAAH2	57335740	1.000000	0.71417	0.559000	0.28332	0.812000	0.45895	2.731000	0.47343	0.991000	0.38814	0.481000	0.45027	.		0.383	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	Intron	Splice_Site_SNP
ARHGEF9	23229	broad.mit.edu	37	X	62917004	62917004	+	Splice_Site	SNP	C	C	T			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chrX:62917004C>T	ENST00000253401.6	-	4	1362		c.e4+1		ARHGEF9_ENST00000374878.1_Splice_Site|ARHGEF9_ENST00000437457.2_Splice_Site|ARHGEF9_ENST00000374870.4_Splice_Site|ARHGEF9_ENST00000374872.1_Splice_Site|ARHGEF9_ENST00000495564.1_Splice_Site	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9						apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AAGATACTTACGTGCTCTAGG	0.468																																																1	Unknown(1)	ovary(1)	X											104.0	73.0	83.0					X																	62917004		2203	4299	6502	62833729	SO:0001630	splice_region_variant	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.561+1G>A	X.37:g.62917004C>T			62833729	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Splice_Site_SNP	SNP	ENST00000253401.6	37	CCDS35315.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423570	0.83559	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1464	0.86767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF9	62833729	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	7.296000	0.78790	2.364000	0.80123	0.513000	0.50165	.		0.468	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		Intron	Splice_Site_SNP
OPHN1	4983	broad.mit.edu	37	X	67454406	67454406	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chrX:67454406C>G	ENST00000355520.5	-	6	1050	c.409G>C	c.(409-411)Gat>Cat	p.D137H	OPHN1_ENST00000540071.1_Missense_Mutation_p.D137H	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	137					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.D137H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTCTCACCATCCTTTTCAAAT	0.398																																																1	Substitution - Missense(1)	ovary(1)	X											220.0	199.0	206.0					X																	67454406		2203	4300	6503	67371131	SO:0001583	missense	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.409G>C	X.37:g.67454406C>G	ENSP00000347710:p.Asp137His		67371131	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497891	0.64186	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.39787	1.06;1.06	3.85	3.85	0.44370	IRSp53/MIM homology domain (IMD) (1);	0.111595	0.64402	D	0.000014	T	0.49236	0.1545	L	0.29908	0.895	0.51012	D	0.999901	D;P;D	0.89917	0.97;0.951;1.0	P;P;D	0.67231	0.823;0.847;0.95	T	0.53711	-0.8400	10	0.87932	D	0	.	12.6241	0.56620	0.0:1.0:0.0:0.0	.	137;137;137	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	H	137	ENSP00000347710:D137H;ENSP00000438617:D137H	ENSP00000347710:D137H	D	-	1	0	OPHN1	67371131	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.517000	0.67061	1.918000	0.55548	0.415000	0.27848	GAT		0.398	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		Missense_Mutation
TBC1D8B	54885	broad.mit.edu	37	X	106113969	106113969	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-1423-01	TCGA-24-1423-10	g.chrX:106113969G>C	ENST00000357242.5	+	20	3067	c.2893G>C	c.(2893-2895)Gca>Cca	p.A965P	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A959P	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	965							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A965P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATATTCAAGCATATCTAAG	0.299																																																1	Substitution - Missense(1)	ovary(1)	X											58.0	56.0	56.0					X																	106113969		2203	4294	6497	106000625	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2893G>C	X.37:g.106113969G>C	ENSP00000349781:p.Ala965Pro		106000625	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120762	0.56613	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.29917	1.55;1.55	4.93	4.06	0.47325	EF-hand-like domain (1);	0.131911	0.50627	D	0.000119	T	0.34337	0.0894	M	0.66939	2.045	0.49582	D	0.9998	P	0.39551	0.678	B	0.41374	0.355	T	0.06881	-1.0802	10	0.36615	T	0.2	-0.6802	11.526	0.50580	0.0915:0.0:0.9085:0.0	.	965	Q0IIM8	TBC8B_HUMAN	P	965;959	ENSP00000349781:A965P;ENSP00000276175:A959P	ENSP00000276175:A959P	A	+	1	0	TBC1D8B	106000625	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	4.089000	0.57685	0.858000	0.35431	0.594000	0.82650	GCA		0.299	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-	rs587778718		TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-1423-01	TCGA-24-1423-10	g.chr17:7578275_7578277delGAG	ENST00000269305.4	-	6	761_763	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000420246.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.P191del|TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000455263.2_In_Frame_Del_p.P191del	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	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATAAGATGCTGAGGAGGGGCCAG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	156	Substitution - Nonsense(95)|Deletion - In frame(23)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Substitution - Missense(6)|Insertion - Frameshift(2)|Complex - frameshift(1)|Substitution - coding silent(1)	breast(27)|ovary(21)|urinary_tract(15)|lung(13)|upper_aerodigestive_tract(12)|large_intestine(9)|skin(9)|oesophagus(8)|biliary_tract(7)|haematopoietic_and_lymphoid_tissue(6)|kidney(6)|stomach(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)|prostate(1)	17	GRCh37	CD972478	TP53	D																																				7519002	SO:0001651	inframe_deletion	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.572_574delCTC	17.37:g.7578278_7578280delGAG	ENSP00000269305:p.Pro191del		7519000	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	In_Frame_Del	DEL	ENST00000269305.4	37	CCDS11118.1	DEL	45	Broad																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		In_Frame_Del
ATP10B	23120	broad.mit.edu	37	5	160049412	160049442	+	Frame_Shift_Del	DEL	GCTCGGTGGTTGTGGACACCATGACAGAGTT	GCTCGGTGGTTGTGGACACCATGACAGAGTT	-	rs80300275|rs548788352|rs368181743|rs529106149	byFrequency	TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-1423-01	TCGA-24-1423-10	g.chr5:160049412_160049442delGCTCGGTGGTTGTGGACACCATGACAGAGTT	ENST00000327245.5	-	14	2617_2647	c.1771_1801delAACTCTGTCATGGTGTCCACAACCACCGAGC	c.(1771-1803)aactctgtcatggtgtccacaaccaccgagcccfs	p.NSVMVSTTTEP591fs	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	591					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N591fs*28(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTGCCTGGGCTCGGTGGTTGTGGACACCATGACAGAGTTGCAGATGGTT	0.576																																																1	Deletion - Frameshift(1)	ovary(1)	5																																								159982020	SO:0001589	frameshift_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1771_1801delAACTCTGTCATGGTGTCCACAACCACCGAGC	5.37:g.160049412_160049442delGCTCGGTGGTTGTGGACACCATGACAGAGTT	ENSP00000313600:p.Asn591fs		159981990	Q9H725	Frame_Shift_Del	DEL	ENST00000327245.5	37	CCDS43394.1	DEL	42	Broad																																																																																				0.576	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		Frame_Shift_Del
TTC16	158248	broad.mit.edu	37	9	130482567	130482568	+	Frame_Shift_Ins	INS	-	-	G			TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-1423-01	TCGA-24-1423-10	g.chr9:130482567_130482568insG	ENST00000373289.3	+	6	630_631	c.550_551insG	c.(550-552)aagfs	p.K184fs	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Frame_Shift_Ins_p.K8fs|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	184								p.K184fs*311(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCTGGCCCTCAAGCAGCATCAG	0.624																																																1	Insertion - Frameshift(1)	ovary(1)	9																																								129522389	SO:0001589	frameshift_variant	158248			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	Exception_encountered	9.37:g.130482567_130482568insG	ENSP00000362386:p.Lys184fs		129522388	B4DYG4|B5ME24|Q5JU66|Q96M72	Frame_Shift_Ins	INS	ENST00000373289.3	37	CCDS6875.1	INS	5	Broad																																																																																				0.624	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		Frame_Shift_Ins
BRWD3	254065	broad.mit.edu	37	X	79989661	79989674	+	Frame_Shift_Del	DEL	CCAAATAATATATT	CCAAATAATATATT	-	rs183261230		TCGA-24-1423-01	TCGA-24-1423-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-1423-01	TCGA-24-1423-10	g.chrX:79989661_79989674delCCAAATAATATATT	ENST00000373275.4	-	11	1245_1258	c.1029_1042delAATATATTATTTGG	c.(1027-1044)agaatatattatttgggtfs	p.IYYLG344fs		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	344					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.I344fs*2(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCTCAGAACCCAAATAATATATTCTAATCACAT	0.341																																																1	Deletion - Frameshift(1)	ovary(1)	X																																								79876330	SO:0001589	frameshift_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1029_1042delAATATATTATTTGG	X.37:g.79989661_79989674delCCAAATAATATATT	ENSP00000362372:p.Ile344fs		79876317	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Frame_Shift_Del	DEL	ENST00000373275.4	37	CCDS14447.1	DEL	22	Broad																																																																																				0.341	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		Frame_Shift_Del
