#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_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
PRDM16	63976	broad.mit.edu	37	1	3328714	3328714	+	Silent	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:3328714C>T	ENST00000270722.5	+	9	2002	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.G651G|PRDM16_ENST00000442529.2_Silent_p.G651G|PRDM16_ENST00000511072.1_Silent_p.G652G|PRDM16_ENST00000441472.2_Silent_p.G651G|PRDM16_ENST00000514189.1_Silent_p.G652G|PRDM16_ENST00000378398.3_Silent_p.G652G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	651					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.G651G(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGTTTGGGGGCGGCTTGGCGC	0.687			T	EVI1	"""MDS, AML"""																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - coding silent(1)	ovary(1)	1											29.0	39.0	36.0					1																	3328714		1956	4118	6074	3318574	SO:0001819	synonymous_variant	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1953C>T	1.37:g.3328714C>T			3318574	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																				0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
HEYL	26508	broad.mit.edu	37	1	40105268	40105268	+	Silent	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:40105268G>A	ENST00000372852.3	-	1	349	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	10					atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S10S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTCCCCGTCGGAGCCGCTCG	0.731																																																1	Substitution - coding silent(1)	ovary(1)	1											9.0	10.0	10.0					1																	40105268		2171	4271	6442	39877855	SO:0001819	synonymous_variant	26508			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.30C>T	1.37:g.40105268G>A			39877855	Q5TG99	Silent	SNP	ENST00000372852.3	37	CCDS439.1																																																																																				0.731	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571	
COL11A1	1301	broad.mit.edu	37	1	103491077	103491077	+	Splice_Site	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:103491077C>T	ENST00000370096.3	-	7	1302	c.990G>A	c.(988-990)gaG>gaA	p.E330E	COL11A1_ENST00000358392.2_Splice_Site_p.E342E|COL11A1_ENST00000353414.4_Splice_Site_p.E291E|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	330	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E342E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACGTATTACCTCATTTGTCC	0.328																																																1	Substitution - coding silent(1)	ovary(1)	1											139.0	129.0	132.0					1																	103491077		2203	4300	6503	103263665	SO:0001630	splice_region_variant	1301			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.990+1G>A	1.37:g.103491077C>T			103263665	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent
PIFO	128344	broad.mit.edu	37	1	111891250	111891250	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:111891250A>C	ENST00000369738.4	+	4	736	c.371A>C	c.(370-372)aAg>aCg	p.K124T	PIFO_ENST00000369737.4_Missense_Mutation_p.K91T|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	124					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)	p.K124T(1)									AACTACCCAAAGGACACTTAC	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											302.0	328.0	320.0					1																	111891250		2203	4300	6503	111692773	SO:0001583	missense	128344			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.371A>C	1.37:g.111891250A>C	ENSP00000358753:p.Lys124Thr		111692773	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	CCDS833.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670568	0.29693	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.32023	1.89;1.47	4.36	4.36	0.52297	.	0.704488	0.12956	N	0.425443	T	0.20373	0.0490	M	0.65975	2.015	0.18873	N	0.999988	P;P	0.46142	0.873;0.787	B;B	0.43916	0.436;0.344	T	0.05178	-1.0901	10	0.35671	T	0.21	-4.3398	10.5682	0.45186	1.0:0.0:0.0:0.0	.	91;124	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	T	124;91	ENSP00000358753:K124T;ENSP00000358752:K91T	ENSP00000358752:K91T	K	+	2	0	C1orf88	111692773	0.035000	0.19736	0.235000	0.24058	0.129000	0.20672	0.637000	0.24659	1.939000	0.56221	0.369000	0.22263	AAG		0.398	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643	
WNT2B	7482	broad.mit.edu	37	1	113059875	113059875	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr1:113059875G>T	ENST00000369684.4	+	4	1299	c.814G>T	c.(814-816)Gct>Tct	p.A272S	WNT2B_ENST00000256640.5_Missense_Mutation_p.A180S|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.A253S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	272					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.A272S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATGATGGGGCTGTGCAGGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											63.0	56.0	58.0					1																	113059875		2203	4300	6503	112861398	SO:0001583	missense	7482			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.814G>T	1.37:g.113059875G>T	ENSP00000358698:p.Ala272Ser		112861398	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804188	0.96967	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	D;D;D	0.82526	-1.62;-1.62;-1.62	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	M	0.73217	2.22	0.80722	D	1	D;D	0.54601	0.967;0.959	P;P	0.58391	0.838;0.749	D	0.87477	0.2418	10	0.52906	T	0.07	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	272;253	Q93097;Q93097-2	WNT2B_HUMAN;.	S	180;253;272	ENSP00000256640:A180S;ENSP00000358700:A253S;ENSP00000358698:A272S	ENSP00000256640:A180S	A	+	1	0	WNT2B	112861398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.599000	0.87857	0.555000	0.69702	GCT		0.602	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185	
ZRANB1	54764	broad.mit.edu	37	10	126673350	126673350	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr10:126673350A>G	ENST00000359653.4	+	9	2287	c.1916A>G	c.(1915-1917)aAt>aGt	p.N639S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	639	TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.N639S(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGCTAGGTAATGAGGAACAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	10											57.0	56.0	56.0					10																	126673350		2203	4300	6503	126663340	SO:0001583	missense	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1916A>G	10.37:g.126673350A>G	ENSP00000352676:p.Asn639Ser		126663340	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	A	3.630	-0.075795	0.07184	.	.	ENSG00000019995	ENST00000359653	T	0.16597	2.33	5.28	5.28	0.74379	.	0.165132	0.51477	D	0.000089	T	0.09113	0.0225	N	0.08118	0	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	10	0.10111	T	0.7	-24.7599	15.3621	0.74487	1.0:0.0:0.0:0.0	.	639	Q9UGI0	ZRAN1_HUMAN	S	639	ENSP00000352676:N639S	ENSP00000352676:N639S	N	+	2	0	ZRANB1	126663340	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.613000	0.67688	2.209000	0.71365	0.533000	0.62120	AAT		0.478	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580	
OR51E2	81285	broad.mit.edu	37	11	4703227	4703227	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:4703227T>C	ENST00000396950.3	-	2	954	c.715A>G	c.(715-717)Acc>Gcc	p.T239A		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	239					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.T239A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACACACAGGTTCCAAAGGCC	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											125.0	103.0	110.0					11																	4703227		2201	4298	6499	4659803	SO:0001583	missense	81285			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.715A>G	11.37:g.4703227T>C	ENSP00000380153:p.Thr239Ala		4659803	B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126106	0.56721	.	.	ENSG00000167332	ENST00000396950	T	0.41065	1.01	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.139368	0.32918	N	0.005495	T	0.72415	0.3457	H	0.95780	3.72	0.39939	D	0.974385	P	0.43578	0.811	P	0.60173	0.87	T	0.81353	-0.0971	10	0.87932	D	0	.	13.6154	0.62105	0.0:0.0:0.0:1.0	.	239	Q9H255	O51E2_HUMAN	A	239	ENSP00000380153:T239A	ENSP00000380153:T239A	T	-	1	0	OR51E2	4659803	1.000000	0.71417	0.801000	0.32222	0.614000	0.37383	7.631000	0.83237	2.092000	0.63282	0.533000	0.62120	ACC		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774	
TMEM86A	144110	broad.mit.edu	37	11	18723200	18723200	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:18723200G>T	ENST00000280734.2	+	3	463	c.367G>T	c.(367-369)Gtg>Ttg	p.V123L	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	123						integral component of membrane (GO:0016021)		p.V123L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GACAGGTCTGGTGATGGCAGC	0.597																																																1	Substitution - Missense(1)	ovary(1)	11											99.0	88.0	92.0					11																	18723200		2199	4293	6492	18679776	SO:0001583	missense	144110			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.367G>T	11.37:g.18723200G>T	ENSP00000280734:p.Val123Leu		18679776	Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582475	0.13749	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.19806	2.12	5.03	4.11	0.48088	.	0.342297	0.31847	N	0.006967	T	0.10895	0.0266	N	0.16016	0.355	0.35927	D	0.832233	B	0.02656	0.0	B	0.04013	0.001	T	0.18304	-1.0341	10	0.13108	T	0.6	-12.8537	9.9808	0.41813	0.0734:0.3874:0.5391:0.0	.	123	Q8N2M4	TM86A_HUMAN	L	123	ENSP00000280734:V123L	ENSP00000280734:V123L	V	+	1	0	TMEM86A	18679776	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.828000	0.39111	1.467000	0.48044	0.561000	0.74099	GTG		0.597	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347	
OR5R1	219479	broad.mit.edu	37	11	56185013	56185013	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:56185013C>A	ENST00000312253.1	-	1	695	c.696G>T	c.(694-696)caG>caT	p.Q232H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q232H(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGTGTTGCCCCTGAGTAGAGC	0.443																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	11											142.0	130.0	134.0					11																	56185013		2201	4296	6497	55941589	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.696G>T	11.37:g.56185013C>A	ENSP00000308595:p.Gln232His		55941589		Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329163	0.41197	.	.	ENSG00000174942	ENST00000312253	T	0.00224	8.51	5.53	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.287283	0.18380	U	0.142981	T	0.00178	0.0005	N	0.19112	0.55	0.09310	N	0.999995	P	0.48834	0.916	P	0.50314	0.637	T	0.51505	-0.8697	10	0.72032	D	0.01	-7.7762	5.4787	0.16710	0.1282:0.5868:0.0:0.285	.	232	Q8NH85	OR5R1_HUMAN	H	232	ENSP00000308595:Q232H	ENSP00000308595:Q232H	Q	-	3	2	OR5R1	55941589	0.000000	0.05858	0.675000	0.29917	0.331000	0.28603	0.017000	0.13399	0.676000	0.31285	0.579000	0.79373	CAG		0.443	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
VWA5A	4013	broad.mit.edu	37	11	123989726	123989726	+	Silent	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr11:123989726C>G	ENST00000456829.2	+	7	941	c.690C>G	c.(688-690)ctC>ctG	p.L230L	VWA5A_ENST00000360334.4_Silent_p.L230L|VWA5A_ENST00000392744.4_Silent_p.L246L|VWA5A_ENST00000392748.1_Silent_p.L230L|VWA5A_ENST00000361352.5_Silent_p.L230L|VWA5A_ENST00000449321.1_Silent_p.L230L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	230								p.L230L(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ACGTGGAACTCCTGATTTACT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	11											147.0	117.0	127.0					11																	123989726		2201	4299	6500	123494936	SO:0001819	synonymous_variant	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.690C>G	11.37:g.123989726C>G			123494936	Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	CCDS8444.1																																																																																				0.478	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
CHD4	1108	broad.mit.edu	37	12	6692033	6692033	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr12:6692033C>A	ENST00000357008.2	-	28	4380	c.4217G>T	c.(4216-4218)cGt>cTt	p.R1406L	CHD4_ENST00000544484.1_Missense_Mutation_p.R1431L|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.R1434L|CHD4_ENST00000544040.1_Missense_Mutation_p.R1399L|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1406					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1434L(1)		central_nervous_system(2)	2						CCCACCAACACGGGCCAACAG	0.502																																					Colon(32;586 792 4568 16848 45314)											1	Substitution - Missense(1)	ovary(1)	12											163.0	166.0	165.0					12																	6692033		2203	4300	6503	6562294	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4217G>T	12.37:g.6692033C>A	ENSP00000349508:p.Arg1406Leu		6562294	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398108	0.83120	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92348	-3.02;-2.91;-3.02;-2.91	5.96	5.96	0.96718	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.82323	2.585	0.80722	D	1	D;D;D	0.69078	0.996;0.995;0.997	P;D;D	0.75484	0.891;0.972;0.986	D	0.96272	0.9199	10	0.72032	D	0.01	-5.1401	20.422	0.99049	0.0:1.0:0.0:0.0	.	1434;1406;1399	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	1431;1399;1434;1406;1380	ENSP00000440392:R1431L;ENSP00000440542:R1399L;ENSP00000312419:R1434L;ENSP00000349508:R1406L	ENSP00000312419:R1434L	R	-	2	0	CHD4	6562294	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.461000	0.80834	2.832000	0.97577	0.655000	0.94253	CGT		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
NACA	4666	broad.mit.edu	37	12	57115174	57115174	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr12:57115174G>T	ENST00000454682.1	-	3	421	c.140C>A	c.(139-141)cCt>cAt	p.P47H	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P47H|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	47	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCAAGGAGGGGGGAGGGT	0.552			T	BCL6	NHL																																		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			12											32.0	30.0	31.0					12																	57115174		1568	3582	5150	55401441	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.140C>A	12.37:g.57115174G>T	ENSP00000403817:p.Pro47His		55401441		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	G	8.085	0.773138	0.16051	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.32023	1.47;1.47	3.26	3.26	0.37387	.	.	.	.	.	T	0.27419	0.0673	N	0.08118	0	0.19575	N	0.999963	D;D	0.65815	0.986;0.995	P;P	0.55824	0.575;0.785	T	0.10177	-1.0641	9	0.87932	D	0	.	10.251	0.43368	0.0:0.0:1.0:0.0	.	47;47	E9PAV3;F8VU71	.;.	H	47	ENSP00000403817:P47H;ENSP00000448035:P47H	ENSP00000403817:P47H	P	-	2	0	NACA	55401441	0.986000	0.35501	0.093000	0.20910	0.131000	0.20780	2.679000	0.46909	1.849000	0.53698	0.456000	0.33151	CCT		0.552	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
FREM2	341640	broad.mit.edu	37	13	39262931	39262931	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr13:39262931G>A	ENST00000280481.7	+	1	1666	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	484					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.V484M(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)		GCTAGAGGTGGTGGCTGGGCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	13											42.0	44.0	43.0					13																	39262931		2203	4300	6503	38160931	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.1450G>A	13.37:g.39262931G>A	ENSP00000280481:p.Val484Met		38160931	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.581871	0.28180	.	.	ENSG00000150893	ENST00000280481	T	0.23950	1.88	5.4	5.4	0.78164	.	0.197379	0.46145	D	0.000312	T	0.23965	0.0580	L	0.55481	1.735	0.43965	D	0.996642	B	0.28439	0.212	B	0.25140	0.058	T	0.04976	-1.0914	10	0.54805	T	0.06	.	9.205	0.37285	0.0766:0.1472:0.7762:0.0	.	484	Q5SZK8	FREM2_HUMAN	M	484	ENSP00000280481:V484M	ENSP00000280481:V484M	V	+	1	0	FREM2	38160931	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	1.134000	0.31442	2.538000	0.85594	0.561000	0.74099	GTG		0.612	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
ZBTB25	7597	broad.mit.edu	37	14	64954742	64954742	+	Missense_Mutation	SNP	T	T	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr14:64954742T>G	ENST00000608382.1	-	3	398	c.207A>C	c.(205-207)caA>caC	p.Q69H	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000394715.1_Missense_Mutation_p.Q69H	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q69H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ATATGTCAGGTTGGATGTCAG	0.393																																																1	Substitution - Missense(1)	ovary(1)	14											74.0	66.0	69.0					14																	64954742		2203	4300	6503	64024495	SO:0001583	missense	7597			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.207A>C	14.37:g.64954742T>G	ENSP00000476746:p.Gln69His		64024495	B3KUX6|Q8IYH9	Missense_Mutation	SNP	ENST00000608382.1	37	CCDS9765.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.432338	0.62844	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.22134	1.97;1.97	5.92	-7.13	0.01532	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.43757	1.38	0.51233	D	0.999914	D	0.89917	1.0	D	0.91635	0.999	T	0.46373	-0.9196	10	0.51188	T	0.08	-14.1568	23.2312	0.99981	0.0:0.802:0.0:0.198	.	69	P24278	ZBT25_HUMAN	H	69	ENSP00000261683:Q69H;ENSP00000378204:Q69H	ENSP00000261683:Q69H	Q	-	3	2	ZBTB25	64024495	0.056000	0.20664	0.508000	0.27688	0.996000	0.88848	-0.617000	0.05584	-1.801000	0.01245	0.459000	0.35465	CAA		0.393	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977	
DYNC1H1	1778	broad.mit.edu	37	14	102461589	102461589	+	Silent	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr14:102461589T>C	ENST00000360184.4	+	15	3680	c.3516T>C	c.(3514-3516)taT>taC	p.Y1172Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1172	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Y1172Y(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATCACCTATGTGCAGTCTT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											181.0	181.0	181.0					14																	102461589		2203	4300	6503	101531342	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3516T>C	14.37:g.102461589T>C			101531342	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
CATSPER2	117155	broad.mit.edu	37	15	43940168	43940168	+	Missense_Mutation	SNP	T	T	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	A	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr15:43940168T>A	ENST00000321596.5	-	2	291	c.92A>T	c.(91-93)cAt>cTt	p.H31L	CATSPER2_ENST00000464721.1_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.H37L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.H31L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.H31L|CATSPER2_ENST00000354127.4_Missense_Mutation_p.H31L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	31					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H31L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCTTGCAAATGCTCAATGAG	0.473																																																1	Substitution - Missense(1)	ovary(1)	15											183.0	181.0	182.0					15																	43940168		2199	4296	6495	41727460	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.92A>T	15.37:g.43940168T>A	ENSP00000321463:p.His31Leu		41727460	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706661	0.30232	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481;ENST00000419473	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	2.64	2.64	0.31445	.	2.597920	0.01853	N	0.036089	T	0.44138	0.1279	M	0.73598	2.24	0.32017	N	0.601232	B;B;B	0.33044	0.395;0.147;0.091	B;B;B	0.37267	0.245;0.073;0.033	T	0.41770	-0.9490	10	0.31617	T	0.26	.	7.0877	0.25267	0.0:0.0:0.0:1.0	.	31;37;31	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	L	31;31;37;31;31;31;31;31;31	ENSP00000380088:H31L;ENSP00000371180:H37L;ENSP00000321463:H31L;ENSP00000339137:H31L;ENSP00000347613:H31L;ENSP00000407694:H31L;ENSP00000386595:H31L	ENSP00000299989:H31L	H	-	2	0	CATSPER2	41727460	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.580000	0.53907	1.219000	0.43474	0.155000	0.16302	CAT		0.473	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
IGDCC3	9543	broad.mit.edu	37	15	65624296	65624296	+	Silent	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr15:65624296C>T	ENST00000327987.4	-	7	1382	c.1131G>A	c.(1129-1131)agG>agA	p.R377R	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	377	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.R377R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATTCTTGAGCCTGACGTGGC	0.607																																																1	Substitution - coding silent(1)	ovary(1)	15											103.0	91.0	95.0					15																	65624296		2201	4299	6500	63411349	SO:0001819	synonymous_variant	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1131G>A	15.37:g.65624296C>T			63411349	O95215	Silent	SNP	ENST00000327987.4	37	CCDS10205.1																																																																																				0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
SYNM	23336	broad.mit.edu	37	15	99671917	99671917	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr15:99671917G>C	ENST00000560674.1	+	4	2963	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q	SYNM_ENST00000328642.7_Missense_Mutation_p.E1117Q|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.E1117Q			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1118	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E1117Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACAGGTGCTGGAGGATGTGAG	0.612																																					Pancreas(125;1071 1762 21750 40003 40381)											1	Substitution - Missense(1)	ovary(1)	15											22.0	25.0	24.0					15																	99671917		2100	4231	6331	97489440	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2494G>C	15.37:g.99671917G>C	ENSP00000453040:p.Glu832Gln		97489440	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	G	16.55	3.153585	0.57259	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.83992	-1.79;-1.78	5.32	5.32	0.75619	.	.	.	.	.	D	0.89677	0.6784	.	.	.	0.31585	N	0.654587	D;D	0.76494	0.999;0.998	D;P	0.71184	0.972;0.895	D	0.89618	0.3846	8	0.66056	D	0.02	.	11.6608	0.51345	0.0846:0.0:0.9154:0.0	.	1118;1117	O15061;C9JIE4	SYNEM_HUMAN;.	Q	1117	ENSP00000336775:E1117Q;ENSP00000330469:E1117Q	ENSP00000330469:E1117Q	E	+	1	0	SYNM	97489440	0.935000	0.31712	0.998000	0.56505	0.571000	0.35966	1.875000	0.39578	2.463000	0.83235	0.655000	0.94253	GAG		0.612	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	T	rs267605076		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr17:7578177C>T	ENST00000269305.4	-	6	861	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000420246.2_Splice_Site_p.E224E	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		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"""	61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	17											81.0	76.0	78.0					17																	7578177		2203	4300	6503	7518902	SO:0001630	splice_region_variant	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.672+1G>A	17.37:g.7578177C>T			7518902	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	Silent	SNP	ENST00000269305.4	37	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent
PSG4	5672	broad.mit.edu	37	19	43702148	43702148	+	Splice_Site	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr19:43702148C>G	ENST00000405312.3	-	3	947		c.e3+1		PSG4_ENST00000244295.9_Splice_Site|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4						female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGATACTCACGGAGGAGATT	0.527																																																1	Unknown(1)	ovary(1)	19											39.0	46.0	44.0					19																	43702148		2108	4239	6347	48393988	SO:0001630	splice_region_variant	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.709+1G>C	19.37:g.43702148C>G			48393988	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Splice_Site	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	C	2.854	-0.237699	0.05944	.	.	ENSG00000243137	ENST00000244295;ENST00000405312	.	.	.	1.96	0.858	0.19030	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4947	0.11831	0.0:0.7864:0.0:0.2136	.	.	.	.	.	-1	.	.	.	-	.	.	PSG4	48393988	0.171000	0.23029	0.017000	0.16124	0.007000	0.05969	0.119000	0.15626	0.170000	0.19704	-0.482000	0.04802	.		0.527	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	Intron
GPR155	151556	broad.mit.edu	37	2	175331291	175331291	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:175331291G>C	ENST00000392552.2	-	6	1485	c.1247C>G	c.(1246-1248)aCt>aGt	p.T416S	GPR155_ENST00000392551.2_Missense_Mutation_p.T416S|GPR155_ENST00000295500.4_Missense_Mutation_p.T416S	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	416					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T416S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAGTAAATTAGTTGTAAGCAT	0.313																																																1	Substitution - Missense(1)	ovary(1)	2											81.0	90.0	87.0					2																	175331291		2202	4284	6486	175039537	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1247C>G	2.37:g.175331291G>C	ENSP00000376335:p.Thr416Ser		175039537	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809611	0.31961	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.43688	0.94;0.94;0.94	5.73	3.93	0.45458	.	0.443842	0.28241	N	0.016072	T	0.29652	0.0740	N	0.21448	0.665	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.18555	-1.0333	10	0.45353	T	0.12	-1.6047	12.1151	0.53860	0.1385:0.0:0.8615:0.0	.	416	Q7Z3F1	GP155_HUMAN	S	416	ENSP00000376335:T416S;ENSP00000376334:T416S;ENSP00000295500:T416S	ENSP00000295500:T416S	T	-	2	0	GPR155	175039537	0.697000	0.27767	0.859000	0.33776	0.964000	0.63967	3.537000	0.53590	0.767000	0.33267	0.650000	0.86243	ACT		0.313	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
TTN	7273	broad.mit.edu	37	2	179604888	179604888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:179604888C>A	ENST00000591111.1	-	46	12345	c.12121G>T	c.(12121-12123)Gag>Tag	p.E4041*	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E4120*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E3995*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E4187*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E4358*			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3995*(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)			CTTTTAGACTCAATGATTTGG	0.458																																																1	Substitution - Nonsense(1)	ovary(1)	2											80.0	79.0	79.0					2																	179604888		1859	4097	5956	179313133	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12121G>T	2.37:g.179604888C>A	ENSP00000465570:p.Glu4041*		179313133	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	52	19.472509	0.99919	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.92	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0541	0.19802	0.0:0.592:0.127:0.281	.	.	.	.	X	3995;4187;4120;3995	.	ENSP00000340554:E4187X	E	-	1	0	TTN	179313133	0.000000	0.05858	0.017000	0.16124	0.049000	0.14656	-0.319000	0.08039	0.828000	0.34709	0.655000	0.94253	GAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179732789	179732789	+	Silent	SNP	G	G	T	rs553756414		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:179732789G>T	ENST00000420890.2	-	16	2655	c.2538C>A	c.(2536-2538)tcC>tcA	p.S846S	CCDC141_ENST00000295723.5_Silent_p.S271S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	846								p.S271S(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGACTCCTAAGGAAAGGGCCA	0.507																																																1	Substitution - coding silent(1)	ovary(1)	2											133.0	114.0	120.0					2																	179732789		2203	4300	6503	179441034	SO:0001819	synonymous_variant	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2538C>A	2.37:g.179732789G>T			179441034	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.507	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
WDR75	84128	broad.mit.edu	37	2	190339474	190339474	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:190339474C>G	ENST00000314761.4	+	20	2288	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	743						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S743C(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTCCTGCCATCTGCTGCTTTC	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											129.0	109.0	116.0					2																	190339474		2203	4300	6503	190047719	SO:0001583	missense	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2228C>G	2.37:g.190339474C>G	ENSP00000314193:p.Ser743Cys		190047719	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098556	0.56183	.	.	ENSG00000115368	ENST00000314761	T	0.64803	-0.12	5.63	5.63	0.86233	.	0.361239	0.33161	N	0.005201	T	0.75686	0.3883	L	0.59436	1.845	0.46774	D	0.999198	D;D	0.89917	1.0;1.0	D;D	0.65010	0.931;0.931	T	0.75847	-0.3173	10	0.59425	D	0.04	-11.2337	18.2374	0.89954	0.0:1.0:0.0:0.0	.	743;743	A8K330;Q8IWA0	.;WDR75_HUMAN	C	743	ENSP00000314193:S743C	ENSP00000314193:S743C	S	+	2	0	WDR75	190047719	0.995000	0.38212	0.123000	0.21794	0.209000	0.24338	6.673000	0.74482	2.826000	0.97356	0.655000	0.94253	TCT		0.448	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	
SLC40A1	30061	broad.mit.edu	37	2	190430258	190430258	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:190430258C>G	ENST00000261024.2	-	6	1008	c.582G>C	c.(580-582)caG>caC	p.Q194H		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	194					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)	p.Q194H(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATGTCATAATCTGGCCAACAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	2											99.0	102.0	101.0					2																	190430258		2203	4300	6503	190138503	SO:0001583	missense	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.582G>C	2.37:g.190430258C>G	ENSP00000261024:p.Gln194His		190138503	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586344	0.86851	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;D	0.94138	-1.41;-3.36	6.02	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);	0.148106	0.64402	N	0.000007	D	0.95159	0.8431	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92793	0.6250	10	0.27785	T	0.31	-12.0594	11.7984	0.52112	0.0:0.8656:0.0:0.1344	.	194	Q9NP59	S40A1_HUMAN	H	194	ENSP00000261024:Q194H;ENSP00000390005:Q194H	ENSP00000261024:Q194H	Q	-	3	2	SLC40A1	190138503	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.689000	0.46993	2.865000	0.98341	0.655000	0.94253	CAG		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		
ABCA12	26154	broad.mit.edu	37	2	215807722	215807722	+	Missense_Mutation	SNP	G	G	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:215807722G>C	ENST00000272895.7	-	50	7582	c.7363C>G	c.(7363-7365)Ctc>Gtc	p.L2455V	ABCA12_ENST00000389661.4_Missense_Mutation_p.L2137V|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2455	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L2455V(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGGTACAGAGAGCTTCACAT	0.383																																					Ovarian(66;664 1488 5121 34295)											1	Substitution - Missense(1)	ovary(1)	2											124.0	106.0	112.0					2																	215807722		2203	4300	6503	215515967	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7363C>G	2.37:g.215807722G>C	ENSP00000272895:p.Leu2455Val		215515967	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219891	0.79464	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.97941	-4.62;-4.62	5.65	4.76	0.60689	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000033	D	0.98385	0.9463	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.966	D	0.98304	1.0520	10	0.66056	D	0.02	.	14.0358	0.64644	0.0736:0.0:0.9264:0.0	.	2455;2137	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	2455;2137	ENSP00000272895:L2455V;ENSP00000374312:L2137V	ENSP00000272895:L2455V	L	-	1	0	ABCA12	215515967	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.272000	0.65559	2.821000	0.97095	0.650000	0.86243	CTC		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
C2orf57	165100	broad.mit.edu	37	2	232457879	232457879	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:232457879G>T	ENST00000313965.2	+	1	305	c.217G>T	c.(217-219)Gtt>Ttt	p.V73F		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	73								p.V73F(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CAAGAGTGCAGTTGTTCCAGA	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											128.0	132.0	131.0					2																	232457879		2203	4300	6503	232166123	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.217G>T	2.37:g.232457879G>T	ENSP00000315557:p.Val73Phe		232166123	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.083438	0.36758	.	.	ENSG00000177673	ENST00000313965	T	0.18338	2.22	3.62	1.82	0.25136	.	1.814210	0.03502	N	0.218268	T	0.12817	0.0311	N	0.14661	0.345	0.09310	N	1	P	0.49090	0.919	B	0.43536	0.423	T	0.18209	-1.0344	10	0.62326	D	0.03	.	5.5702	0.17192	0.2475:0.0:0.7525:0.0	.	73	Q53QW1	CB057_HUMAN	F	73	ENSP00000315557:V73F	ENSP00000315557:V73F	V	+	1	0	C2orf57	232166123	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.593000	0.23999	0.541000	0.28827	-0.251000	0.11542	GTT		0.522	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614	
SAG	6295	broad.mit.edu	37	2	234237227	234237227	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:234237227C>A	ENST00000409110.1	+	8	846	c.616C>A	c.(616-618)Ccc>Acc	p.P206T	SAG_ENST00000449594.2_Missense_Mutation_p.P72T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	206					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)	p.P206T(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GTCTGACAAGCCCCTGCACCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	2											96.0	94.0	95.0					2																	234237227		1993	4169	6162	233901966	SO:0001583	missense	6295				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.616C>A	2.37:g.234237227C>A	ENSP00000386444:p.Pro206Thr		233901966	A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319868	0.81469	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.17213	2.29;2.29	4.19	4.19	0.49359	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.84683	2.71	0.58432	D	0.999996	D;D	0.61697	0.989;0.99	P;P	0.58130	0.77;0.833	T	0.52434	-0.8576	10	0.59425	D	0.04	-26.2467	17.1039	0.86657	0.0:1.0:0.0:0.0	.	72;206	B7Z7L5;P10523	.;ARRS_HUMAN	T	206;206;72	ENSP00000386444:P206T;ENSP00000392889:P72T	ENSP00000252857:P206T	P	+	1	0	SAG	233901966	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.830000	0.55768	2.342000	0.79632	0.655000	0.94253	CCC		0.607	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541	
RBM44	375316	broad.mit.edu	37	2	238737961	238737961	+	Missense_Mutation	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr2:238737961T>C	ENST00000409864.1	+	13	2959	c.2705T>C	c.(2704-2706)gTt>gCt	p.V902A	RBM44_ENST00000316997.4_Missense_Mutation_p.V902A			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	901	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.V902A(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTGTGGCCTGTTAAAATTCTT	0.338																																																1	Substitution - Missense(1)	ovary(1)	2											111.0	109.0	110.0					2																	238737961		1830	4087	5917	238402700	SO:0001583	missense	375316			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2705T>C	2.37:g.238737961T>C	ENSP00000386727:p.Val902Ala		238402700	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518769	0.44763	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.12147	2.71;2.71	4.46	3.3	0.37823	.	.	.	.	.	T	0.11281	0.0275	N	0.04746	-0.17	0.29905	N	0.824043	D	0.56968	0.978	P	0.55303	0.773	T	0.05370	-1.0889	9	0.56958	D	0.05	-11.8435	6.1208	0.20151	0.0:0.1144:0.0:0.8856	.	901	Q6ZP01	RBM44_HUMAN	A	902	ENSP00000321179:V902A;ENSP00000386727:V902A	ENSP00000321179:V902A	V	+	2	0	RBM44	238402700	0.957000	0.32711	0.997000	0.53966	0.920000	0.55202	1.873000	0.39558	1.784000	0.52394	0.450000	0.29827	GTT		0.338	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
RFTN1	23180	broad.mit.edu	37	3	16358606	16358606	+	Missense_Mutation	SNP	C	C	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:16358606C>A	ENST00000334133.4	-	10	1738	c.1466G>T	c.(1465-1467)gGa>gTa	p.G489V	OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.G453V|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	489					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.G489V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCCCATGTCTCCAGCTTTGGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											134.0	125.0	128.0					3																	16358606		2203	4300	6503	16333610	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1466G>T	3.37:g.16358606C>A	ENSP00000334153:p.Gly489Val		16333610	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664441	0.47572	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.42900	0.96;1.05	5.43	1.49	0.22878	.	1.797300	0.02497	N	0.090031	T	0.51160	0.1658	L	0.57536	1.79	0.29984	N	0.817445	D;D	0.56746	0.96;0.977	P;P	0.54100	0.643;0.742	T	0.23084	-1.0198	10	0.72032	D	0.01	-8.4003	3.0083	0.06035	0.1457:0.5567:0.1409:0.1567	.	453;489	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	453;489	ENSP00000403926:G453V;ENSP00000334153:G489V	ENSP00000334153:G489V	G	-	2	0	RFTN1	16333610	0.003000	0.15002	0.001000	0.08648	0.019000	0.09904	0.103000	0.15292	0.054000	0.16065	0.563000	0.77884	GGA		0.493	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
DCBLD2	131566	broad.mit.edu	37	3	98531323	98531323	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:98531323A>G	ENST00000326840.6	-	10	1578	c.1216T>C	c.(1216-1218)Ttt>Ctt	p.F406L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.F406L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	406	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.F406L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTTCCTTGAAATATCTTTAAA	0.343																																																1	Substitution - Missense(1)	ovary(1)	3											46.0	43.0	44.0					3																	98531323		1817	4080	5897	100014013	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1216T>C	3.37:g.98531323A>G	ENSP00000321573:p.Phe406Leu		100014013	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736943	0.89482	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.84516	-1.86;-1.86	5.88	5.88	0.94601	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.79108	0.935;0.992	D	0.92324	0.5868	10	0.56958	D	0.05	-22.956	14.2535	0.66035	1.0:0.0:0.0:0.0	.	406;406	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	L	406;355;406	ENSP00000321573:F406L;ENSP00000321646:F406L	ENSP00000321573:F406L	F	-	1	0	DCBLD2	100014013	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.651000	0.91078	2.239000	0.73571	0.533000	0.62120	TTT		0.343	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927	
NIT2	56954	broad.mit.edu	37	3	100071324	100071324	+	Missense_Mutation	SNP	C	C	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:100071324C>T	ENST00000394140.4	+	8	752	c.661C>T	c.(661-663)Cac>Tac	p.H221Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	221	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.H221Y(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TGCCTGGGGACACAGCACCGT	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											134.0	118.0	124.0					3																	100071324		2203	4300	6503	101554014	SO:0001583	missense	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.661C>T	3.37:g.100071324C>T	ENSP00000377696:p.His221Tyr		101554014	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919171	0.92249	.	.	ENSG00000114021	ENST00000394140	T	0.63417	-0.04	5.31	5.31	0.75309	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.044152	0.85682	D	0.000000	T	0.72732	0.3497	M	0.89601	3.045	0.80722	D	1	P	0.44776	0.843	B	0.41764	0.366	T	0.80605	-0.1308	10	0.66056	D	0.02	-6.0066	18.5749	0.91151	0.0:1.0:0.0:0.0	.	221	Q9NQR4	NIT2_HUMAN	Y	221	ENSP00000377696:H221Y	ENSP00000377696:H221Y	H	+	1	0	NIT2	101554014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.360000	0.79487	2.495000	0.84180	0.557000	0.71058	CAC		0.537	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	
NFKBIZ	64332	broad.mit.edu	37	3	101574637	101574637	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:101574637G>A	ENST00000326172.5	+	9	1830	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R450K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R472K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	572	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R572K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GAACTCCAGAGAAATCAACAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											116.0	108.0	111.0					3																	101574637		2203	4300	6503	103057327	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1715G>A	3.37:g.101574637G>A	ENSP00000325663:p.Arg572Lys		103057327	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.537684|1.537684	0.27475|0.27475	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000477601|ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	.|T;T;T;T	.|0.54279	.|0.63;0.58;0.65;0.67	5.92|5.92	2.95|2.95	0.34219|0.34219	.|Ankyrin repeat-containing domain (3);	.|0.416158	.|0.27577	.|N	.|0.018747	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.05608|0.05608	-0.01|-0.01	0.20489|0.20489	N|N	0.999897|0.999897	.|B;B	.|0.12630	.|0.006;0.003	.|B;B	.|0.10450	.|0.003;0.005	T|T	0.26643|0.26643	-1.0097|-1.0097	5|10	.|0.02654	.|T	.|1	-11.058|-11.058	3.4096|3.4096	0.07353|0.07353	0.1271:0.2732:0.4595:0.1403|0.1271:0.2732:0.4595:0.1403	.|.	.|450;572	.|Q9BYH8-3;Q9BYH8	.|.;IKBZ_HUMAN	K|K	21|472;472;450;572	.|ENSP00000419800:R472K;ENSP00000377618:R472K;ENSP00000325593:R450K;ENSP00000325663:R572K	.|ENSP00000325593:R450K	E|R	+|+	1|2	0|0	NFKBIZ|NFKBIZ	103057327|103057327	0.984000|0.984000	0.35163|0.35163	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	1.203000|1.203000	0.32284|0.32284	0.799000|0.799000	0.34018|0.34018	-0.188000|-0.188000	0.12872|0.12872	GAA|AGA		0.458	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	
MAN2B2	23324	broad.mit.edu	37	4	6598867	6598867	+	Missense_Mutation	SNP	A	A	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr4:6598867A>G	ENST00000285599.3	+	8	1121	c.1085A>G	c.(1084-1086)tAc>tGc	p.Y362C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Y311C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	362					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.Y362C(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACGGGCTTCTACACGTCCCGC	0.627																																																1	Substitution - Missense(1)	ovary(1)	4											94.0	103.0	100.0					4																	6598867		2203	4300	6503	6649768	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1085A>G	4.37:g.6598867A>G	ENSP00000285599:p.Tyr362Cys		6649768	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.76|18.76	3.692885|3.692885	0.68271|0.68271	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|D;D	.|0.87334	.|-2.24;-2.24	5.13|5.13	-1.16|-1.16	0.09678|0.09678	.|Glycoside hydrolase, family 38, central domain (2);	.|0.250811	.|0.39759	.|N	.|0.001262	D|D	0.91250|0.91250	0.7242|0.7242	H|H	0.94264|0.94264	3.515|3.515	0.50039|0.50039	D|D	0.999847|0.999847	.|P;P;P	.|0.46784	.|0.727;0.727;0.884	.|P;P;P	.|0.49665	.|0.562;0.478;0.618	D|D	0.90449|0.90449	0.4437|0.4437	5|10	.|0.66056	.|D	.|0.02	-19.2869|-19.2869	10.2095|10.2095	0.43132|0.43132	0.5008:0.0:0.0:0.4992|0.5008:0.0:0.0:0.4992	.|.	.|311;362;362	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	A|C	361|362;311	.|ENSP00000285599:Y362C;ENSP00000423129:Y311C	.|ENSP00000285599:Y362C	T|Y	+|+	1|2	0|0	MAN2B2|MAN2B2	6649768|6649768	1.000000|1.000000	0.71417|0.71417	0.654000|0.654000	0.29608|0.29608	0.939000|0.939000	0.58152|0.58152	4.575000|4.575000	0.60908|0.60908	-0.071000|-0.071000	0.12886|0.12886	0.448000|0.448000	0.29417|0.29417	ACA|TAC		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
GCM2	9247	broad.mit.edu	37	6	10874450	10874450	+	Silent	SNP	C	C	T	rs527620122		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr6:10874450C>T	ENST00000379491.4	-	5	1446	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	433					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P433P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGACTGTCACCGGAGGACCCC	0.552																																																1	Substitution - coding silent(1)	ovary(1)	6											44.0	45.0	45.0					6																	10874450		2203	4300	6503	10982436	SO:0001819	synonymous_variant	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1299G>A	6.37:g.10874450C>T			10982436	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.552	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
GNL1	2794	broad.mit.edu	37	6	30514931	30514931	+	Missense_Mutation	SNP	G	G	A			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr6:30514931G>A	ENST00000376621.3	-	10	2369	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.P467S(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCGCTGAGGGGTCCTCAGCC	0.632																																																1	Substitution - Missense(1)	ovary(1)	6											94.0	100.0	98.0					6																	30514931		1511	2708	4219	30622910	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1399C>T	6.37:g.30514931G>A	ENSP00000365806:p.Pro467Ser		30622910	B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411663	0.42817	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.48522	0.81	4.99	4.04	0.47022	.	0.579041	0.17484	N	0.172599	T	0.12390	0.0301	N	0.19112	0.55	0.36319	D	0.858154	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.14671	-1.0464	10	0.13853	T	0.58	-21.5383	5.5565	0.17119	0.1092:0.2049:0.6858:0.0	.	465;264;467	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	S	467;289;264	ENSP00000365806:P467S	ENSP00000365806:P467S	P	-	1	0	GNL1	30622910	0.047000	0.20315	0.969000	0.41365	0.912000	0.54170	0.732000	0.26072	2.592000	0.87571	0.555000	0.69702	CCC		0.632	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2		
WRN	7486	broad.mit.edu	37	8	30924675	30924675	+	Missense_Mutation	SNP	C	C	G			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr8:30924675C>G	ENST00000298139.5	+	6	880	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	211	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.L211V(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGACCAGAAACTGTATGCAGC	0.343			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	1	Substitution - Missense(1)	ovary(1)	8											77.0	69.0	72.0					8																	30924675		2203	4300	6503	31044217	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.631C>G	8.37:g.30924675C>G	ENSP00000298139:p.Leu211Val		31044217	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254685	0.39896	.	.	ENSG00000165392	ENST00000298139	T	0.64260	-0.09	5.68	1.69	0.24217	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.351767	0.25112	N	0.033048	T	0.48750	0.1517	L	0.43554	1.36	0.23930	N	0.996431	B	0.23591	0.088	B	0.32289	0.143	T	0.42275	-0.9461	10	0.49607	T	0.09	-3.5408	2.0348	0.03537	0.1382:0.4726:0.135:0.2541	.	211	Q14191	WRN_HUMAN	V	211	ENSP00000298139:L211V	ENSP00000298139:L211V	L	+	1	2	WRN	31044217	0.069000	0.21087	0.998000	0.56505	0.997000	0.91878	-0.320000	0.08028	0.748000	0.32831	0.561000	0.74099	CTG		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
ADAM18	8749	broad.mit.edu	37	8	39502937	39502937	+	Silent	SNP	T	T	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr8:39502937T>C	ENST00000265707.5	+	11	1035	c.990T>C	c.(988-990)gaT>gaC	p.D330D	ADAM18_ENST00000379866.1_Silent_p.D306D|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D330D(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACATATGATGACATCACTC	0.323																																																1	Substitution - coding silent(1)	ovary(1)	8											129.0	116.0	120.0					8																	39502937		2203	4300	6503	39622094	SO:0001819	synonymous_variant	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.990T>C	8.37:g.39502937T>C			39622094	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	CCDS6113.1																																																																																				0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
RABGAP1	23637	broad.mit.edu	37	9	125746913	125746913	+	Silent	SNP	C	C	G	rs376306008		TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr9:125746913C>G	ENST00000373647.4	+	3	434	c.300C>G	c.(298-300)ctC>ctG	p.L100L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	100					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.L28L(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTAATCAGCTCTCCGCTTCAT	0.502																																																1	Substitution - coding silent(1)	ovary(1)	9											142.0	111.0	122.0					9																	125746913		2203	4300	6503	124786734	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.300C>G	9.37:g.125746913C>G			124786734	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	CCDS6848.2																																																																																				0.502	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
BMX	660	broad.mit.edu	37	X	15548148	15548148	+	Missense_Mutation	SNP	A	A	C			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chrX:15548148A>C	ENST00000357607.2	+	10	1125	c.937A>C	c.(937-939)Aag>Cag	p.K313Q	BMX_ENST00000348343.6_Missense_Mutation_p.K313Q|BMX_ENST00000342014.6_Missense_Mutation_p.K313Q			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	313	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.K313Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACTCAGACAAAAGGTAAATAG	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											82.0	75.0	78.0					X																	15548148		2203	4300	6503	15458069	SO:0001583	missense	660			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.937A>C	X.37:g.15548148A>C	ENSP00000350224:p.Lys313Gln		15458069	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759832	0.69763	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.88741	-2.42;-2.42;-2.42	5.03	5.03	0.67393	SH2 motif (4);	0.216848	0.32952	N	0.005442	D	0.88217	0.6377	N	0.16862	0.45	0.36802	D	0.88541	D	0.76494	0.999	D	0.65874	0.939	D	0.90832	0.4717	10	0.62326	D	0.03	.	11.3538	0.49605	1.0:0.0:0.0:0.0	.	313	P51813	BMX_HUMAN	Q	313	ENSP00000350224:K313Q;ENSP00000308774:K313Q;ENSP00000340082:K313Q	ENSP00000340082:K313Q	K	+	1	0	BMX	15458069	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	1.765000	0.52091	0.486000	0.48141	AAG		0.358	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
GPR50	9248	broad.mit.edu	37	X	150348554	150348554	+	Missense_Mutation	SNP	G	G	T			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chrX:150348554G>T	ENST00000218316.3	+	2	568	c.499G>T	c.(499-501)Ggc>Tgc	p.G167C	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	167					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.G167C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATGTACATTGGCACCATCGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	X											193.0	174.0	180.0					X																	150348554		2199	4290	6489	150099212	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.499G>T	X.37:g.150348554G>T	ENSP00000218316:p.Gly167Cys		150099212	Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954798	0.53293	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.40756	1.02	4.32	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.102201	0.64402	D	0.000002	T	0.70518	0.3233	H	0.95574	3.69	0.43107	D	0.9948	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.76055	-0.3099	10	0.45353	T	0.12	-18.8558	9.9231	0.41476	0.1129:0.0:0.8871:0.0	.	120;167	F5H1S3;Q13585	.;MTR1L_HUMAN	C	120;167	ENSP00000218316:G167C	ENSP00000218316:G167C	G	+	1	0	GPR50	150099212	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	5.579000	0.67457	1.898000	0.54952	0.523000	0.50628	GGC		0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
DMKN	93099	broad.mit.edu	37	19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	rs112672248|rs142519211|rs144877871|rs544198244|rs199498909|rs11667007|rs12981076|rs146822312|rs148799704|rs138902616|rs56743379|rs140071083|rs371511253|rs117522133|rs59309505|rs113540509|rs111543270|rs58579970|rs201369392	byFrequency	TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	-	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000474928.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641																																																1	Deletion - In frame(1)	ovary(1)	19							,,,,,,	1051,3093		133,785,1154					,,,,,,	-3.2	0.0		dbSNP_130	28	1360,6640		184,992,2824	no	coding,coding,coding,intron,coding,coding,intron	DMKN	NM_033317.4,NM_001190349.1,NM_001190348.1,NM_001190347.1,NM_001126058.2,NM_001126057.2,NM_001126056.2	,,,,,,	317,1777,3978	A1A1,A1R,RR		17.0,25.362,19.8534	,,,,,,	,,,,,,		2411,9733				40694252	SO:0001651	inframe_deletion	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	19.37:g.36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENSP00000342012:p.Ser273_Ser289del		40694202	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																				0.641	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
SLC35G2	80723	broad.mit.edu	37	3	136573502	136573516	+	In_Frame_Del	DEL	CTTTCTTTGGAACCA	CTTTCTTTGGAACCA	-			TCGA-25-2042-01A-01W-0799-08	TCGA-25-2042-10A-01W-0799-08	CTTTCTTTGGAACCA	CTTTCTTTGGAACCA	-	-	CTTTCTTTGGAACCA	CTTTCTTTGGAACCA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina_Capture			Illumina GAIIx	0df494f4-2112-4614-ae36-07cbe4c43928	043f57e8-66ea-4b5e-9dfe-b6429fea0301	g.chr3:136573502_136573516delCTTTCTTTGGAACCA	ENST00000446465.2	+	2	828_842	c.200_214delCTTTCTTTGGAACCA	c.(199-216)gctttctttggaaccatg>gtg	p.67_72AFFGTM>V	SLC35G2_ENST00000393079.3_In_Frame_Del_p.67_72AFFGTM>V|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.A67_M72>V(1)									AAAGGGAGAGCTTTCTTTGGAACCATGGATACCCT	0.386																																																1	Complex - deletion inframe(1)	ovary(1)	3																																								138056206	SO:0001651	inframe_deletion	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.200_214delCTTTCTTTGGAACCA	3.37:g.136573502_136573516delCTTTCTTTGGAACCA	ENSP00000400839:p.Ala67_Met72delinsVal		138056192		In_Frame_Del	DEL	ENST00000446465.2	37	CCDS3091.1																																																																																				0.386	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
