#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
HSPG2	3339	broad.mit.edu	37	1	22178133	22178133	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:22178133C>G	ENST00000374695.3	-	55	7143	c.7064G>C	c.(7063-7065)gGg>gCg	p.G2355A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2355	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.G2355A(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGGTCTGCCCTTCCGCCAC	0.657																																																1	Substitution - Missense(1)	ovary(1)	1											80.0	82.0	81.0					1																	22178133		2203	4300	6503	22050720	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7064G>C	1.37:g.22178133C>G	ENSP00000363827:p.Gly2355Ala	Unknown		x	x	x	22050720	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	18.27	3.588012	0.66105	.	.	ENSG00000142798	ENST00000374695	T	0.81247	-1.47	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39210	N	0.001428	D	0.93776	0.8010	H	0.97918	4.105	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95724	0.8769	10	0.72032	D	0.01	.	16.9353	0.86202	0.0:1.0:0.0:0.0	.	295;2355	Q59EG0;P98160	.;PGBM_HUMAN	A	2355	ENSP00000363827:G2355A	ENSP00000363827:G2355A	G	-	2	0	HSPG2	22050720	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	5.997000	0.70646	2.598000	0.87819	0.462000	0.41574	GGG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		Missense_Mutation
EPHB2	2048	broad.mit.edu	37	1	23111184	23111184	+	Silent	SNP	A	A	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:23111184A>C	ENST00000400191.3	+	3	444	c.426A>C	c.(424-426)gcA>gcC	p.A142A	EPHB2_ENST00000374632.3_Silent_p.A142A|EPHB2_ENST00000374627.1_Silent_p.A136A|EPHB2_ENST00000544305.1_Silent_p.A142A|EPHB2_ENST00000374630.3_Silent_p.A142A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	142	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.A142A(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATACCATTGCAGCCGACGAGA	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											43.0	43.0	43.0					1																	23111184		2203	4300	6503	22983771	SO:0001819	synonymous_variant	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.426A>C	1.37:g.23111184A>C		Unknown		x	x	x	22983771	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37		SNP	7	Broad																																																																																				0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		Silent
CSMD2	114784	broad.mit.edu	37	1	34128623	34128623	+	Silent	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:34128623C>T	ENST00000373380.1	-	5	961	c.741G>A	c.(739-741)gaG>gaA	p.E247E	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.E1374E			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1334	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1334E(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAACCCCGCTCTCCACAGGCC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	1											92.0	85.0	87.0					1																	34128623		2203	4300	6503	33901210	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.741G>A	1.37:g.34128623C>T		Unknown		x	x	x	33901210	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37		SNP	32	Broad																																																																																				0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		Silent
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:40777384C>T	ENST00000372748.3	-	9	517	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	141	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D141N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGTCCAGGGTCCCCCTGGAAG	0.622																																																1	Substitution - Missense(1)	ovary(1)	1											41.0	52.0	48.0					1																	40777384		2197	4294	6491	40549971	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.421G>A	1.37:g.40777384C>T	ENSP00000361834:p.Asp141Asn	Unknown		x	x	x	40549971	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	SNP	30	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.14|18.14	3.557854|3.557854	0.65425|0.65425	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748;ENST00000372736|ENST00000417105	D;D|D	0.94184|0.97505	-3.37;-3.23|-4.41	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.267459|.	0.35466|.	N|.	0.003185|.	D|D	0.97451|0.97451	0.9166|0.9166	M|M	0.65320|0.65320	2|2	0.33007|0.33007	D|D	0.527019|0.527019	D|.	0.57257|.	0.979|.	P|.	0.57960|.	0.83|.	D|D	0.99961|0.99961	1.1726|1.1726	10|7	0.16896|0.87932	T|D	0.51|0	.|.	15.8313|15.8313	0.78752|0.78752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141|.	Q14055|.	CO9A2_HUMAN|.	N|E	141;70|129	ENSP00000361834:D141N;ENSP00000361821:D70N|ENSP00000388493:G129E	ENSP00000361821:D70N|ENSP00000388493:G129E	D|G	-|-	1|2	0|0	COL9A2|COL9A2	40549971|40549971	0.960000|0.960000	0.32886|0.32886	1.000000|1.000000	0.80357|0.80357	0.843000|0.843000	0.47879|0.47879	2.687000|2.687000	0.46976|0.46976	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		Missense_Mutation
C1orf141	400757	broad.mit.edu	37	1	67559074	67559074	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:67559074G>C	ENST00000371007.2	-	8	926	c.817C>G	c.(817-819)Cct>Gct	p.P273A	C1orf141_ENST00000371006.1_Missense_Mutation_p.P273A|C1orf141_ENST00000544837.1_Missense_Mutation_p.P273A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	273								p.P273A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTACTGTAGGCATAGTTTTT	0.313																																																1	Substitution - Missense(1)	ovary(1)	1											84.0	85.0	85.0					1																	67559074		2203	4298	6501	67331662	SO:0001583	missense	400757			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.817C>G	1.37:g.67559074G>C	ENSP00000360046:p.Pro273Ala	Unknown		x	x	x	67331662	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478605	0.26511	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.31769	1.48;1.48;1.48	4.66	-2.04	0.07343	.	1.016720	0.07878	N	0.969119	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.22152	0.038	T	0.41215	-0.9521	10	0.18276	T	0.48	1.0971	5.2647	0.15593	0.4376:0.1429:0.4195:0.0	.	273	Q5JVX7	CA141_HUMAN	A	273	ENSP00000360046:P273A;ENSP00000360045:P273A;ENSP00000444018:P273A	ENSP00000360045:P273A	P	-	1	0	C1orf141	67331662	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.001000	0.03690	-0.504000	0.06577	0.561000	0.74099	CCT		0.313	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		Missense_Mutation
ST6GALNAC3	256435	broad.mit.edu	37	1	76779491	76779491	+	Splice_Site	SNP	G	G	T	rs555017128		TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:76779491G>T	ENST00000328299.3	+	2	168	c.20G>T	c.(19-21)aGa>aTa	p.R7I		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	7					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R7I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTTTTGTAGAGAAAGTCTGTG	0.378																																																1	Substitution - Missense(1)	ovary(1)	1											144.0	130.0	135.0					1																	76779491		2203	4300	6503	76552079	SO:0001630	splice_region_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.19-1G>T	1.37:g.76779491G>T		Unknown		x	x	x	76552079	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388015	0.61956	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	T	0.33216	1.42	5.26	4.34	0.51931	.	0.184880	0.56097	N	0.000024	T	0.19685	0.0473	L	0.29908	0.895	0.52099	D	0.99994	P;P	0.45176	0.61;0.852	B;P	0.47705	0.103;0.555	T	0.02121	-1.1210	10	0.72032	D	0.01	-5.5151	12.3621	0.55209	0.0815:0.0:0.9185:0.0	.	7;7	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	I	7;6	ENSP00000329214:R7I	ENSP00000329214:R7I	R	+	2	0	ST6GALNAC3	76552079	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.785000	0.55424	2.462000	0.83206	0.491000	0.48974	AGA		0.378	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	Missense_Mutation	Missense_Mutation
OVGP1	5016	broad.mit.edu	37	1	111964026	111964026	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:111964026C>T	ENST00000369732.3	-	8	830	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Intron	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	259					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.G259R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTGGGGATCCCCATGATGAGC	0.512																																																1	Substitution - Missense(1)	ovary(1)	1											113.0	112.0	113.0					1																	111964026		2203	4300	6503	111765549	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.775G>A	1.37:g.111964026C>T	ENSP00000358747:p.Gly259Arg	Unknown		x	x	x	111765549	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764801	0.90020	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.20069	2.1	5.08	5.08	0.68730	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048832	0.85682	D	0.000000	T	0.60366	0.2263	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77267	-0.2651	10	0.87932	D	0	-26.6177	15.9896	0.80193	0.0:1.0:0.0:0.0	.	259;323	Q12889;Q59HH5	OVGP1_HUMAN;.	R	259;323;67	ENSP00000358747:G259R	ENSP00000358743:G323R	G	-	1	0	OVGP1	111765549	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	6.749000	0.74883	2.635000	0.89317	0.491000	0.48974	GGG		0.512	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		Missense_Mutation
LCE2B	26239	broad.mit.edu	37	1	152659649	152659649	+	Silent	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:152659649C>T	ENST00000368780.3	+	2	384	c.330C>T	c.(328-330)tgC>tgT	p.C110C	LCE2B_ENST00000417924.2_Silent_p.C110C	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	110	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.C110C(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTGCTGCTGACCTGGGC	0.577																																																1	Substitution - coding silent(1)	ovary(1)	1											32.0	39.0	37.0					1																	152659649		2163	4260	6423	150926273	SO:0001819	synonymous_variant	26239			BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.330C>T	1.37:g.152659649C>T		Unknown		x	x	x	150926273	Q5TA80	Silent	SNP	ENST00000368780.3	37	CCDS1020.1	SNP	28	Broad																																																																																				0.577	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		Silent
ELF3	1999	broad.mit.edu	37	1	201980352	201980352	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:201980352C>T	ENST00000359651.3	+	1	3280	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.P30S|ELF3_ENST00000367284.5_Missense_Mutation_p.P30S|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.P30S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCTCTGTTCCCCCTGCTGC	0.572																																																1	Substitution - Missense(1)	ovary(1)	1											118.0	112.0	114.0					1																	201980352		2203	4300	6503	200246975	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.88C>T	1.37:g.201980352C>T	ENSP00000352673:p.Pro30Ser	Unknown		x	x	x	200246975		Missense_Mutation	SNP	ENST00000359651.3	37	CCDS1419.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	8.769	0.925548	0.18056	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.79	2.74	0.32292	Sterile alpha motif/pointed domain (1);	1.484610	0.03846	N	0.271541	T	0.19846	0.0477	N	0.24115	0.695	0.24034	N	0.996103	P	0.35745	0.518	B	0.32864	0.154	T	0.19289	-1.0310	10	0.23891	T	0.37	.	5.0143	0.14328	0.1468:0.6239:0.1433:0.0861	.	30	P78545	ELF3_HUMAN	S	30	ENSP00000352673:P30S;ENSP00000356253:P30S;ENSP00000356252:P30S;ENSP00000405162:P30S	ENSP00000311348:P30S	P	+	1	0	ELF3	200246975	0.015000	0.18098	0.424000	0.26647	0.107000	0.19398	0.420000	0.21263	1.323000	0.45263	0.655000	0.94253	CCC		0.572	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		Missense_Mutation
PGBD5	79605	broad.mit.edu	37	1	230513265	230513265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:230513265G>A	ENST00000525115.1	-	1	126	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	PGBD5_ENST00000321327.2_Nonsense_Mutation_p.Q35*|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	35						integral component of membrane (GO:0016021)		p.Q35*(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TCGCTTGGCTGCAGATCCCGG	0.527																																																1	Substitution - Nonsense(1)	ovary(1)	1											65.0	56.0	59.0					1																	230513265		2203	4300	6503	228579888	SO:0001587	stop_gained	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.103C>T	1.37:g.230513265G>A	ENSP00000431404:p.Gln35*	Unknown		x	x	x	228579888	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Nonsense_Mutation	SNP	ENST00000525115.1	37		SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462109	0.43736	.	.	ENSG00000177614	ENST00000321327;ENST00000525115	.	.	.	2.84	-5.68	0.02436	.	12.972700	0.00531	U	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	3.3465	7.0964	0.25311	0.2597:0.153:0.5873:0.0	.	.	.	.	X	35	.	ENSP00000322530:Q35X	Q	-	1	0	PGBD5	228579888	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.447000	0.02396	-1.806000	0.01237	-0.300000	0.09419	CAG		0.527	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		Nonsense_Mutation
ZNF670	93474	broad.mit.edu	37	1	247201191	247201191	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr1:247201191C>T	ENST00000366503.2	-	4	888	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E244K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGAGATCTTTCATGTTGGCGA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											82.0	84.0	83.0					1																	247201191		2203	4300	6503	245267814	SO:0001583	missense	93474				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.730G>A	1.37:g.247201191C>T	ENSP00000355459:p.Glu244Lys	Unknown		x	x	x	245267814		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496064	0.26774	.	.	ENSG00000135747	ENST00000366503	T	0.07327	3.2	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.03016	-0.435	0.19775	N	0.999951	B	0.24576	0.106	B	0.29663	0.105	T	0.48559	-0.9025	9	0.18710	T	0.47	.	4.4357	0.11549	1.0E-4:0.5719:0.428:0.0	.	244	Q9BS34	ZN670_HUMAN	K	244	ENSP00000355459:E244K	ENSP00000355459:E244K	E	-	1	0	ZNF670	245267814	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	0.098000	0.15189	0.604000	0.29930	0.467000	0.42956	GAA		0.398	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		Missense_Mutation
FAM21C	253725	broad.mit.edu	37	10	46272810	46272810	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr10:46272810G>C	ENST00000336378.4	+	22	2344	c.2226G>C	c.(2224-2226)aaG>aaC	p.K742N	FAM21C_ENST00000359860.4_Missense_Mutation_p.K686N|FAM21C_ENST00000374362.2_Missense_Mutation_p.K744N|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000540872.1_Missense_Mutation_p.K744N	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	742					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.K741N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTGTGGATAAGAAGGTTGAGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											133.0	133.0	133.0					10																	46272810		1820	4048	5868	45592816	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2226G>C	10.37:g.46272810G>C	ENSP00000337541:p.Lys742Asn	Unknown		x	x	x	45592816	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	3.429	-0.116532	0.06838	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.01	3.01	0.34805	.	1.772090	0.02631	N	0.104260	T	0.48466	0.1501	M	0.65975	2.015	0.09310	N	0.999999	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.33085	-0.9882	9	0.20519	T	0.43	-0.2029	9.7037	0.40203	0.0:0.0:1.0:0.0	.	744;742	Q9Y4E1-4;Q9Y4E1	.;FA21C_HUMAN	N	742;744;744;744;686;656	.	ENSP00000337541:K742N	K	+	3	2	FAM21C	45592816	0.998000	0.40836	0.062000	0.19696	0.384000	0.30261	4.259000	0.58828	1.719000	0.51432	0.289000	0.19496	AAG		0.423	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				Missense_Mutation
PNLIPRP3	119548	broad.mit.edu	37	10	118220544	118220544	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr10:118220544C>G	ENST00000369230.3	+	6	778	c.632C>G	c.(631-633)gCc>gGc	p.A211G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	211					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.A211G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CCCTCGGATGCCAACTTTGTT	0.443																																																1	Substitution - Missense(1)	ovary(1)	10											134.0	119.0	124.0					10																	118220544		2203	4300	6503	118210534	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.632C>G	10.37:g.118220544C>G	ENSP00000358232:p.Ala211Gly	Unknown		x	x	x	118210534		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044638	0.93685	.	.	ENSG00000203837	ENST00000369230	D	0.94931	-3.56	4.93	4.93	0.64822	Lipase, N-terminal (1);	0.102027	0.41001	D	0.000965	D	0.97176	0.9077	M	0.79258	2.445	0.44424	D	0.997341	D	0.89917	1.0	D	0.91635	0.999	D	0.97754	1.0216	10	0.87932	D	0	.	18.318	0.90227	0.0:1.0:0.0:0.0	.	211	Q17RR3	LIPR3_HUMAN	G	211	ENSP00000358232:A211G	ENSP00000358232:A211G	A	+	2	0	PNLIPRP3	118210534	1.000000	0.71417	0.562000	0.28370	0.466000	0.32739	6.273000	0.72581	2.561000	0.86390	0.591000	0.81541	GCC		0.443	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		Missense_Mutation
PAOX	196743	broad.mit.edu	37	10	135195006	135195007	+	Missense_Mutation	DNP	GG	GG	AA	rs138484398		TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr10:135195006_135195007GG>AA	ENST00000278060.5	+	3	794_795	c.711_712GG>AA	c.(709-714)ccGGag>ccAAag	p.E238K	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Missense_Mutation_p.E238K|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.E238K	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	376					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CCGCCCTGCCGGAGGACACTGT	0.574																																																0			10																																								135044997	SO:0001583	missense	196743			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	Exception_encountered	10.37:g.135195006_135195007delinsAA	ENSP00000278060:p.Glu238Lys	Unknown		x	x	x	135044996	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	DNP	ENST00000278060.5	37	CCDS7683.1	DNP	39	Broad																																																																																				0.574	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		Missense_Mutation
MICAL2	9645	broad.mit.edu	37	11	12244975	12244975	+	Silent	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:12244975C>T	ENST00000256194.4	+	12	1755	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	MICAL2_ENST00000379612.3_Silent_p.I489I|MICAL2_ENST00000342902.5_Silent_p.I489I|MICAL2_ENST00000527546.1_Silent_p.I489I|MICAL2_ENST00000537344.1_Silent_p.I489I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	489	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.I489I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTTGTATATCACTAAGGAGC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	11											105.0	98.0	101.0					11																	12244975		2201	4294	6495	12201551	SO:0001819	synonymous_variant	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1467C>T	11.37:g.12244975C>T		Unknown		x	x	x	12201551	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	CCDS7809.1	SNP	29	Broad																																																																																				0.557	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		Silent
MICAL2	9645	broad.mit.edu	37	11	12264259	12264259	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:12264259G>C	ENST00000256194.4	+	20	2886	c.2598G>C	c.(2596-2598)aaG>aaC	p.K866N	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.K866N|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	866					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.K866N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TTCACACAAAGAACATTAAGG	0.502																																																1	Substitution - Missense(1)	ovary(1)	11											123.0	125.0	124.0					11																	12264259		2201	4294	6495	12220835	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2598G>C	11.37:g.12264259G>C	ENSP00000256194:p.Lys866Asn	Unknown		x	x	x	12220835	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	CCDS7809.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711236	0.89112	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.64803	-0.12;-0.12	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000003	T	0.72170	0.3427	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.85130	0.997;0.673	T	0.70802	-0.4773	10	0.48119	T	0.1	.	20.239	0.98366	0.0:0.0:1.0:0.0	.	866;866	G3XAC8;O94851	.;MICA2_HUMAN	N	866	ENSP00000256194:K866N;ENSP00000344894:K866N	ENSP00000256194:K866N	K	+	3	2	MICAL2	12220835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.040000	0.64191	2.884000	0.98904	0.655000	0.94253	AAG		0.502	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		Missense_Mutation
OR8K3	219473	broad.mit.edu	37	11	56085842	56085842	+	Silent	SNP	C	C	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:56085842C>A	ENST00000312711.1	+	1	60	c.60C>A	c.(58-60)atC>atA	p.I20I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I20I(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCACAGATATCGCTGAGCTGC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	11											171.0	153.0	159.0					11																	56085842		2201	4295	6496	55842418	SO:0001819	synonymous_variant	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.60C>A	11.37:g.56085842C>A		Unknown		x	x	x	55842418	Q6IFC4	Silent	SNP	ENST00000312711.1	37	CCDS31527.1	SNP	31	Broad																																																																																				0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		Silent
TAF6L	10629	broad.mit.edu	37	11	62545450	62545450	+	Splice_Site	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:62545450G>A	ENST00000294168.3	+	4	436	c.235G>A	c.(235-237)Gct>Act	p.A79T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	79					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A79T(2)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TTTTCCTCAGGCTGTGTGTGG	0.592																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											86.0	77.0	80.0					11																	62545450		2201	4299	6500	62302026	SO:0001630	splice_region_variant	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.235-1G>A	11.37:g.62545450G>A		Unknown		x	x	x	62302026	B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	CCDS8035.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868615	0.51588	.	.	ENSG00000162227	ENST00000294168;ENST00000529509	T;T	0.47177	0.85;0.9	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	N	0.16478	0.41	0.80722	D	1	B;B	0.17852	0.003;0.024	B;B	0.15052	0.005;0.012	T	0.10683	-1.0619	9	.	.	.	-0.8087	17.5103	0.87758	0.0:0.0:1.0:0.0	.	79;79	B4DVM4;Q9Y6J9	.;TAF6L_HUMAN	T	79	ENSP00000294168:A79T;ENSP00000434662:A79T	.	A	+	1	0	TAF6L	62302026	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	6.833000	0.75334	2.740000	0.93945	0.455000	0.32223	GCT		0.592	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473	Missense_Mutation	Missense_Mutation
FAT3	120114	broad.mit.edu	37	11	92600070	92600070	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:92600070G>A	ENST00000298047.6	+	21	11839	c.11822G>A	c.(11821-11823)cGc>cAc	p.R3941H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3791H|FAT3_ENST00000533797.1_Missense_Mutation_p.R276H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3941H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3941	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3941H(2)|p.R516H(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGAGCGGCGCCGGGCGCCC	0.632										TCGA Ovarian(4;0.039)																																						3	Substitution - Missense(3)	ovary(3)	11											31.0	35.0	34.0					11																	92600070		1936	4115	6051	92239718	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11822G>A	11.37:g.92600070G>A	ENSP00000298047:p.Arg3941His	Unknown		x	x	x	92239718	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	33	5.273966	0.95459	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86439	0.5933	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.74674	0.984;0.915	T	0.82568	-0.0392	9	0.25751	T	0.34	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	3941;3941	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3941;3941;3791;276	ENSP00000298047:R3941H;ENSP00000387040:R3941H;ENSP00000432586:R3791H;ENSP00000436399:R276H	ENSP00000298047:R3941H	R	+	2	0	FAT3	92239718	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	9.394000	0.97261	2.720000	0.93068	0.561000	0.74099	CGC		0.632	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		Missense_Mutation
KDELC2	143888	broad.mit.edu	37	11	108350193	108350193	+	Silent	SNP	G	G	A	rs183206038		TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:108350193G>A	ENST00000323468.5	-	6	1193	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	KDELC2_ENST00000375648.1_Silent_p.T320T|KDELC2_ENST00000434945.2_Silent_p.T320T|KDELC2_ENST00000532730.1_Intron	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	376						endoplasmic reticulum (GO:0005783)		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AAGCAGCCACGGTCCCATCCA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		16437	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	11											68.0	66.0	67.0					11																	108350193		1946	4144	6090	107855403	SO:0001819	synonymous_variant	143888			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1128C>T	11.37:g.108350193G>A		Unknown		x	x	x	107855403	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	ENST00000323468.5	37	CCDS41711.1	SNP	39	Broad																																																																																				0.408	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		Silent
VSIG2	23584	broad.mit.edu	37	11	124621997	124621997	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr11:124621997G>T	ENST00000326621.5	-	1	137	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	VSIG2_ENST00000403470.1_Missense_Mutation_p.L13M	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	13						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.L13M(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AAGCCTAGCAGGGCCCCGCAG	0.731																																																1	Substitution - Missense(1)	ovary(1)	11											9.0	13.0	12.0					11																	124621997		2153	4241	6394	124127207	SO:0001583	missense	23584			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.37C>A	11.37:g.124621997G>T	ENSP00000318684:p.Leu13Met	Unknown		x	x	x	124127207	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695978	0.30052	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.76709	-0.98;-1.04	5.36	2.25	0.28309	.	1.088290	0.07112	N	0.842439	T	0.58935	0.2157	N	0.19112	0.55	0.24642	N	0.993569	P	0.37955	0.612	B	0.31614	0.133	T	0.53294	-0.8459	10	0.45353	T	0.12	.	3.7659	0.08622	0.2039:0.0:0.59:0.2061	.	13	Q96IQ7	VSIG2_HUMAN	M	13	ENSP00000318684:L13M;ENSP00000385013:L13M	ENSP00000318684:L13M	L	-	1	2	VSIG2	124127207	0.913000	0.31002	0.698000	0.30274	0.527000	0.34593	1.203000	0.32284	0.816000	0.34421	0.655000	0.94253	CTG		0.731	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		Missense_Mutation
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr12:18891609G>C	ENST00000317658.3	+	1	565	c.407G>C	c.(406-408)gGa>gCa	p.G136A	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	136					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.G136A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											88.0	81.0	83.0					12																	18891609		2203	4300	6503	18782876	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.407G>C	12.37:g.18891609G>C	ENSP00000326238:p.Gly136Ala	Unknown		x	x	x	18782876	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	CCDS8681.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053792	0.36277	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.52011	1.625	0.49687	D	0.999812	D	0.76494	0.999	D	0.91635	0.999	T	0.76353	-0.2990	9	0.87932	D	0	-16.7324	14.3621	0.66779	0.0:0.0:1.0:0.0	.	136	Q96KX2	CAZA3_HUMAN	A	136	.	ENSP00000326238:G136A	G	+	2	0	CAPZA3	18782876	1.000000	0.71417	0.896000	0.35187	0.204000	0.24138	4.228000	0.58619	2.426000	0.82243	0.462000	0.41574	GGA		0.403	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		Missense_Mutation
ALG10B	144245	broad.mit.edu	37	12	38710737	38710737	+	Missense_Mutation	SNP	C	C	A	rs376126647		TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr12:38710737C>A	ENST00000308742.4	+	1	358	c.42C>A	c.(40-42)agC>agA	p.S14R	ALG10B_ENST00000551464.1_Missense_Mutation_p.S14R	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	14					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.S14R(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCGCCTTGAGCTGTACCTTTT	0.597											OREG0021733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12						C	ARG/SER	0,4406		0,0,2203	199.0	205.0	203.0		42	2.8	1.0	12		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALG10B	NM_001013620.3	110	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	14/474	38710737	1,13005	2203	4300	6503	36997004	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.42C>A	12.37:g.38710737C>A	ENSP00000310120:p.Ser14Arg	Unknown	880	x	x	x	36997004	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	c	18.74	3.689126	0.68271	0.0	1.16E-4	ENSG00000175548	ENST00000308742;ENST00000551464	T;T	0.46451	1.48;0.87	3.64	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.56823	-0.7915	10	0.49607	T	0.09	.	7.3924	0.26917	0.0:0.8804:0.0:0.1196	.	14	Q5I7T1	AG10B_HUMAN	R	14	ENSP00000310120:S14R;ENSP00000448819:S14R	ENSP00000310120:S14R	S	+	3	2	ALG10B	36997004	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.775000	0.62346	1.092000	0.41356	0.655000	0.94253	AGC		0.597	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		Missense_Mutation
OR10A7	121364	broad.mit.edu	37	12	55615709	55615709	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr12:55615709G>A	ENST00000326258.1	+	1	901	c.901G>A	c.(901-903)Gtc>Atc	p.V301I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V301I(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GAAAGGGGCTGTCAAGAGGAC	0.433																																																1	Substitution - Missense(1)	ovary(1)	12											78.0	64.0	69.0					12																	55615709		2203	4299	6502	53901976	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.901G>A	12.37:g.55615709G>A	ENSP00000326718:p.Val301Ile	Unknown		x	x	x	53901976	Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	g	10.39	1.338109	0.24253	.	.	ENSG00000179919	ENST00000326258	T	0.37752	1.18	3.45	1.53	0.23141	.	0.508702	0.14446	N	0.319100	T	0.15955	0.0384	N	0.10972	0.075	0.09310	N	1	B	0.14805	0.011	B	0.16289	0.015	T	0.13818	-1.0495	10	0.51188	T	0.08	.	1.6615	0.02792	0.1103:0.236:0.3349:0.3188	.	301	Q8NGE5	O10A7_HUMAN	I	301	ENSP00000326718:V301I	ENSP00000326718:V301I	V	+	1	0	OR10A7	53901976	0.000000	0.05858	0.037000	0.18230	0.107000	0.19398	-1.256000	0.02869	0.775000	0.33450	0.542000	0.68232	GTC		0.433	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			Missense_Mutation
GALNT4	8693	broad.mit.edu	37	12	89917956	89917956	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr12:89917956C>G	ENST00000529983.2	-	1	627	c.371G>C	c.(370-372)tGt>tCt	p.C124S	POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000413530.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.C121S|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	124					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGACTTACACTCATACAT	0.423											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											196.0	190.0	192.0					12																	89917956		1918	4131	6049	88442087	SO:0001583	missense	8693			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.371G>C	12.37:g.89917956C>G	ENSP00000436604:p.Cys124Ser	Unknown	1271	x	x	x	88442087	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025207	0.75390	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.59638	0.25;0.25	5.62	5.62	0.85841	.	.	.	.	.	T	0.80914	0.4715	M	0.89658	3.05	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84578	0.0659	9	0.87932	D	0	.	16.8057	0.85626	0.0:1.0:0.0:0.0	.	121;124	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	S	121;124	ENSP00000447852:C121S;ENSP00000436604:C124S	ENSP00000436604:C124S	C	-	2	0	GALNT4;RP11-1109F11.4	88442087	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	7.725000	0.84808	2.645000	0.89757	0.655000	0.94253	TGT		0.423	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		Missense_Mutation
AMDHD1	144193	broad.mit.edu	37	12	96356225	96356225	+	Silent	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr12:96356225C>T	ENST00000266736.2	+	6	1012	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	302					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.A302A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGTGCTCTGCCATCCTTCTGC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	12											109.0	76.0	87.0					12																	96356225		2203	4300	6503	94880356	SO:0001819	synonymous_variant	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.906C>T	12.37:g.96356225C>T		Unknown		x	x	x	94880356	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1	SNP	21	Broad																																																																																				0.557	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		Silent
ZFYVE26	23503	broad.mit.edu	37	14	68268819	68268819	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr14:68268819G>A	ENST00000347230.4	-	10	1754	c.1616C>T	c.(1615-1617)gCg>gTg	p.A539V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A539V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	539					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A539V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAGTCATTCGCTGGCTCTGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	14											141.0	129.0	133.0					14																	68268819		2203	4300	6503	67338572	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1616C>T	14.37:g.68268819G>A	ENSP00000251119:p.Ala539Val	Unknown		x	x	x	67338572	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639717	0.29157	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.28255	1.76;1.62	5.97	-8.7	0.00851	.	1.455720	0.03675	N	0.244581	T	0.19208	0.0461	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.18681	-1.0329	10	0.40728	T	0.16	2.6915	3.6315	0.08133	0.4483:0.263:0.2031:0.0856	.	539;539;539	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	539;518;539	ENSP00000251119:A539V;ENSP00000450603:A539V	ENSP00000251119:A539V	A	-	2	0	ZFYVE26	67338572	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.510000	0.06328	-1.288000	0.02378	-0.880000	0.02959	GCG		0.532	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		Missense_Mutation
TTLL5	23093	broad.mit.edu	37	14	76211898	76211898	+	Silent	SNP	T	T	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr14:76211898T>A	ENST00000298832.9	+	17	1666	c.1461T>A	c.(1459-1461)ccT>ccA	p.P487P	TTLL5_ENST00000556893.1_Silent_p.P25P|TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.P501P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	487					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.P487P(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATATTTCCTACATCTGAGA	0.348																																																1	Substitution - coding silent(1)	ovary(1)	14											140.0	132.0	135.0					14																	76211898		2203	4300	6503	75281651	SO:0001819	synonymous_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1461T>A	14.37:g.76211898T>A		Unknown		x	x	x	75281651	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	CCDS32124.1	SNP	53	Broad																																																																																				0.348	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		Silent
PDIA3	2923	broad.mit.edu	37	15	44038793	44038793	+	Missense_Mutation	SNP	C	C	T	rs112946863	byFrequency	TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr15:44038793C>T	ENST00000300289.5	+	1	204	c.56C>T	c.(55-57)gCc>gTc	p.A19V	CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	19				A -> G (in Ref. 6; BAA11928). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.A19V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CTTGCCGCGGCCCGCCTCGCC	0.711													C|||	22	0.00439297	0.0159	0.0	5008	,	,		11016	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	15						C	VAL/ALA	35,3941		1,33,1954	14.0	14.0	14.0		56	4.0	0.9	15	dbSNP_132	14	0,7972		0,0,3986	yes	missense	PDIA3	NM_005313.4	64	1,33,5940	TT,TC,CC		0.0,0.8803,0.2929	possibly-damaging	19/506	44038793	35,11913	1988	3986	5974	41826085	SO:0001583	missense	2923				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.56C>T	15.37:g.44038793C>T	ENSP00000300289:p.Ala19Val	Unknown		x	x	x	41826085	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	CCDS10101.1	SNP	26	Broad	12	0.005494505494505495	11	0.022357723577235773	0	0.0	0	0.0	1	0.0013192612137203166	C	15.14	2.744667	0.49151	0.008803	0.0	ENSG00000167004	ENST00000300289;ENST00000538826	T	0.05081	3.5	4.94	4.01	0.46588	Thioredoxin-like fold (2);	0.185975	0.32593	N	0.005889	T	0.04227	0.0117	L	0.48174	1.505	0.80722	D	1	D	0.57571	0.98	P	0.49451	0.611	T	0.37337	-0.9710	10	0.11485	T	0.65	.	12.7747	0.57441	0.1642:0.8358:0.0:0.0	.	19	P30101	PDIA3_HUMAN	V	19	ENSP00000300289:A19V	ENSP00000300289:A19V	A	+	2	0	PDIA3	41826085	0.984000	0.35163	0.869000	0.34112	0.038000	0.13279	1.230000	0.32612	1.290000	0.44636	0.313000	0.20887	GCC		0.711	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		Missense_Mutation
PAQR5	54852	broad.mit.edu	37	15	69696080	69696080	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr15:69696080C>G	ENST00000340965.3	+	9	1580	c.912C>G	c.(910-912)atC>atG	p.I304M	PAQR5_ENST00000395407.2_Missense_Mutation_p.I304M|PAQR5_ENST00000561153.1_Missense_Mutation_p.I304M|Y_RNA_ENST00000384665.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	304					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.I304M(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TGTGCATCATCTTCAGCCTCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	15											99.0	90.0	93.0					15																	69696080		2199	4298	6497	67483134	SO:0001583	missense	54852				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.912C>G	15.37:g.69696080C>G	ENSP00000343877:p.Ile304Met	Unknown		x	x	x	67483134	Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	CCDS10232.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478764	0.26511	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.24350	1.86;1.86	5.71	4.8	0.61643	.	0.751372	0.13520	N	0.381745	T	0.28532	0.0706	M	0.64997	1.995	0.32452	N	0.545323	B	0.18968	0.032	B	0.23150	0.044	T	0.24657	-1.0154	10	0.34782	T	0.22	-23.2169	10.9428	0.47283	0.0:0.9137:0.0:0.0863	.	304	Q9NXK6	MPRG_HUMAN	M	304	ENSP00000378803:I304M;ENSP00000343877:I304M	ENSP00000343877:I304M	I	+	3	3	PAQR5	67483134	0.996000	0.38824	0.990000	0.47175	0.629000	0.37895	1.528000	0.35985	1.431000	0.47355	-0.143000	0.13931	ATC		0.448	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		Missense_Mutation
NPIPB3	23117	broad.mit.edu	37	16	21416271	21416271	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr16:21416271G>C	ENST00000458643.2	-	7	988	c.437C>G	c.(436-438)aCt>aGt	p.T146S	NPIPB3_ENST00000448012.2_Intron|NPIPB3_ENST00000542817.1_Missense_Mutation_p.T113S			Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	329						integral component of membrane (GO:0016021)											TGGAAGGGGAGTGAGCAGACA	0.562																																																0			16											15.0	16.0	15.0					16																	21416271		1293	2294	3587	21323772	SO:0001583	missense	23117					16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000458643.2:c.437C>G	16.37:g.21416271G>C	ENSP00000399107:p.Thr146Ser	Unknown		x	x	x	21323772	O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	Missense_Mutation	SNP	ENST00000458643.2	37		SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.761869	0.00651	.	.	ENSG00000169246	ENST00000447737;ENST00000319334;ENST00000542817;ENST00000458643;ENST00000504841	T	0.18016	2.24	.	.	.	.	.	.	.	.	T	0.08403	0.0209	.	.	.	0.09310	N	1	B;B	0.30973	0.302;0.165	B;B	0.29663	0.105;0.03	T	0.39702	-0.9601	5	0.17832	T	0.49	.	.	.	.	.	310;329	Q92617-3;Q92617-2	.;.	S	207;146;113;146;329	ENSP00000446048:T329S	ENSP00000346048:T146S	T	-	2	0	NPIPL3	21323772	0.307000	0.24500	.	.	.	.	0.064000	0.14437	.	.	.	.	ACT		0.562	NPIPB3-202	KNOWN	basic	protein_coding	protein_coding		NM_130464		Missense_Mutation
ESRP2	80004	broad.mit.edu	37	16	68265187	68265187	+	Missense_Mutation	SNP	C	C	G	rs568451834	byFrequency	TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr16:68265187C>G	ENST00000565858.1	-	12	1721	c.1635G>C	c.(1633-1635)gaG>gaC	p.E545D	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.E535D	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	545	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E535D(1)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCACGTAGCGCTCCTTCATCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	16											98.0	73.0	81.0					16																	68265187		2198	4300	6498	66822688	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1635G>C	16.37:g.68265187C>G	ENSP00000454554:p.Glu545Asp	Unknown		x	x	x	66822688	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37		SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682178	0.03353	.	.	ENSG00000103067	ENST00000473183	T	0.07688	3.17	5.79	-1.64	0.08318	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.048423	0.85682	D	0.000000	T	0.02455	0.0075	N	0.02830	-0.485	0.37847	D	0.929247	B;B	0.10296	0.003;0.003	B;B	0.20184	0.028;0.011	T	0.48031	-0.9070	10	0.07325	T	0.83	-12.7736	7.7498	0.28890	0.0:0.3461:0.3466:0.3073	.	545;535	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	D	535	ENSP00000418748:E535D	ENSP00000418748:E535D	E	-	3	2	ESRP2	66822688	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.030000	0.30153	-0.096000	0.12329	-1.264000	0.01445	GAG		0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		Missense_Mutation
CLEC18B	497190	broad.mit.edu	37	16	74447537	74447537	+	Missense_Mutation	SNP	C	C	T	rs58016779	byFrequency	TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr16:74447537C>T	ENST00000339953.5	-	4	615	c.494G>A	c.(493-495)cGg>cAg	p.R165Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	165	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R165Q(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCACAGGTGCCGCCCACAGCC	0.617													.|||	4	0.000798722	0.003	0.0	5008	,	,		24937	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	16						C	GLN/ARG	11,4385	14.3+/-33.2	0,11,2187	138.0	132.0	134.0		494	-1.8	0.3	16	dbSNP_129	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLEC18B	NM_001011880.2	43	0,12,6486	TT,TC,CC		0.0116,0.2502,0.0923	benign	165/456	74447537	12,12984	2198	4300	6498	73005038	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.494G>A	16.37:g.74447537C>T	ENSP00000341051:p.Arg165Gln	Unknown		x	x	x	73005038	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	SNP	23	Broad	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	10.96	1.498316	0.26861	0.002502	1.16E-4	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.08102	3.13	3.1	-1.76	0.08006	CAP domain (3);	0.858146	0.10132	N	0.711914	T	0.06325	0.0163	L	0.50993	1.605	0.24516	N	0.994183	B;B;B	0.33448	0.412;0.01;0.002	B;B;B	0.24974	0.057;0.011;0.005	T	0.37911	-0.9685	10	0.23891	T	0.37	.	6.259	0.20889	0.0:0.3707:0.0:0.6293	rs58016779	85;165;165	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	Q	165;165;165;85	ENSP00000341051:R165Q	ENSP00000268492:R165Q	R	-	2	0	CLEC18B	73005038	0.000000	0.05858	0.309000	0.25155	0.918000	0.54935	-0.880000	0.04183	-0.197000	0.10350	-0.311000	0.09066	CGG		0.617	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		Missense_Mutation
PKD1L2	114780	broad.mit.edu	37	16	81190525	81190525	+	RNA	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr16:81190525C>T	ENST00000525539.1	-	0	4063				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.C1355Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGACCACACACAGGCAGCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	16											64.0	66.0	65.0					16																	81190525		2175	4271	6446	79748026			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190525C>T		Unknown		x	x	x	79748026	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		SNP	17	Broad																																																																																				0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Unknown		x	x	x	7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
CD300E	342510	broad.mit.edu	37	17	72613409	72613409	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr17:72613409C>G	ENST00000328630.3	-	2	276	c.236G>C	c.(235-237)aGa>aCa	p.R79T	CD300E_ENST00000426295.2_Missense_Mutation_p.R120T|CD300E_ENST00000392619.1_Missense_Mutation_p.R106T			Q496F6	CLM2_HUMAN	CD300e molecule	79	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R79T(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGGTGGTCTCTGATGGACAC	0.532																																																1	Substitution - Missense(1)	ovary(1)	17											243.0	166.0	192.0					17																	72613409		2203	4300	6503	70125004	SO:0001583	missense	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.236G>C	17.37:g.72613409C>G	ENSP00000329942:p.Arg79Thr	Unknown		x	x	x	70125004	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107407	0.37145	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	4.89	2.87	0.33458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000098	T	0.08223	0.0205	L	0.52364	1.645	0.27218	N	0.95975	D	0.53619	0.961	P	0.58130	0.833	T	0.04991	-1.0913	10	0.56958	D	0.05	-16.9687	5.9519	0.19250	0.0:0.7012:0.1969:0.1019	.	79	Q496F6	CLM2_HUMAN	T	106;120;79;81	ENSP00000376395:R106T;ENSP00000416642:R120T;ENSP00000329942:R79T;ENSP00000415488:R81T	ENSP00000329942:R79T	R	-	2	0	CD300E	70125004	0.013000	0.17824	1.000000	0.80357	0.005000	0.04900	-0.312000	0.08113	1.354000	0.45846	-0.274000	0.10170	AGA		0.532	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		Missense_Mutation
TSEN54	283989	broad.mit.edu	37	17	73519781	73519781	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr17:73519781G>C	ENST00000333213.6	+	10	1387	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	LLGL2_ENST00000578363.1_5'Flank|LLGL2_ENST00000375227.4_5'Flank|LLGL2_ENST00000392550.3_5'Flank|LLGL2_ENST00000167462.5_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	451					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.D451H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AATCATCTTTGATGTTTACCA	0.498																																																1	Substitution - Missense(1)	ovary(1)	17											89.0	86.0	87.0					17																	73519781		2203	4300	6503	71031376	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1351G>C	17.37:g.73519781G>C	ENSP00000327487:p.Asp451His	Unknown		x	x	x	71031376	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064085	0.36373	.	.	ENSG00000182173	ENST00000333213	T	0.66995	-0.24	6.06	5.08	0.68730	.	0.128434	0.64402	D	0.000001	T	0.76593	0.4009	M	0.77313	2.365	0.43267	D	0.99521	D	0.55800	0.973	P	0.57468	0.821	T	0.78753	-0.2081	10	0.87932	D	0	-20.7019	10.1921	0.43032	0.1965:0.0:0.8035:0.0	.	451	Q7Z6J9	SEN54_HUMAN	H	451	ENSP00000327487:D451H	ENSP00000327487:D451H	D	+	1	0	TSEN54	71031376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.385000	0.44371	2.879000	0.98667	0.650000	0.86243	GAT		0.498	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		Missense_Mutation
SLC25A10	1468	broad.mit.edu	37	17	79682763	79682763	+	Silent	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr17:79682763C>G	ENST00000350690.5	+	4	455	c.369C>G	c.(367-369)gtC>gtG	p.V123V	SLC25A10_ENST00000541223.1_Silent_p.V278V|SLC25A10_ENST00000571730.1_Silent_p.V278V|SLC25A10_ENST00000545862.1_Silent_p.V80V|SLC25A10_ENST00000331531.5_Silent_p.V123V	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	123					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)	p.V123V(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CAGACTTGGTCAACGTCAGGT	0.647																																																1	Substitution - coding silent(1)	ovary(1)	17											97.0	101.0	100.0					17																	79682763		2203	4300	6503	77293168	SO:0001819	synonymous_variant	1468				CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.369C>G	17.37:g.79682763C>G		Unknown		x	x	x	77293168	Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	CCDS11786.1	SNP	29	Broad																																																																																				0.647	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			Silent
ZGLP1	100125288	broad.mit.edu	37	19	10415818	10415818	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:10415818C>G	ENST00000403903.3	-	4	1963	c.765G>C	c.(763-765)aaG>aaC	p.K255N	ZGLP1_ENST00000403352.1_Missense_Mutation_p.K171N	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	255					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K255N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CACATAGCCTCTTGGGCTGGA	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											71.0	75.0	73.0					19																	10415818		2037	4191	6228	10276818	SO:0001583	missense	100125288			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.765G>C	19.37:g.10415818C>G	ENSP00000384434:p.Lys255Asn	Unknown		x	x	x	10276818		Missense_Mutation	SNP	ENST00000403903.3	37	CCDS45959.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220244	0.39201	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	D;D	0.98164	-4.76;-4.7	5.67	0.757	0.18427	.	.	.	.	.	D	0.92283	0.7552	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.21546	0.035	D	0.86083	0.1545	9	0.33141	T	0.24	-7.7277	0.6604	0.00842	0.1771:0.3501:0.1527:0.3202	.	255	P0C6A0	ZGLP1_HUMAN	N	255;171	ENSP00000384434:K255N;ENSP00000385403:K171N	ENSP00000385403:K171N	K	-	3	2	ZGLP1	10276818	0.831000	0.29352	0.051000	0.19133	0.103000	0.19146	0.868000	0.27982	0.673000	0.31224	0.561000	0.74099	AAG		0.552	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		Missense_Mutation
MAN2B1	4125	broad.mit.edu	37	19	12774203	12774203	+	Silent	SNP	C	C	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:12774203C>A	ENST00000456935.2	-	6	877	c.837G>T	c.(835-837)gtG>gtT	p.V279V	MAN2B1_ENST00000221363.4_Silent_p.V279V	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	279					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V279V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGGGTCCTCCACCAGCGGCT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	19											115.0	95.0	102.0					19																	12774203		2203	4300	6503	12635203	SO:0001819	synonymous_variant	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.837G>T	19.37:g.12774203C>A		Unknown		x	x	x	12635203	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	CCDS32919.1	SNP	21	Broad																																																																																				0.572	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			Silent
MAST1	22983	broad.mit.edu	37	19	12979505	12979505	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:12979505A>G	ENST00000251472.4	+	21	2654	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.D872G(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGGATGGGGATGCATCAGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											113.0	108.0	110.0					19																	12979505		2203	4300	6503	12840505	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2615A>G	19.37:g.12979505A>G	ENSP00000251472:p.Asp872Gly	Unknown		x	x	x	12840505		Missense_Mutation	SNP	ENST00000251472.4	37	CCDS32921.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346675	0.41599	.	.	ENSG00000105613	ENST00000251472	T	0.66460	-0.21	5.05	5.05	0.67936	.	0.257697	0.36234	N	0.002704	T	0.56934	0.2019	L	0.40543	1.245	0.43724	D	0.996203	P	0.35124	0.485	B	0.34489	0.184	T	0.57406	-0.7817	10	0.35671	T	0.21	-35.5376	12.7388	0.57239	1.0:0.0:0.0:0.0	.	872	Q9Y2H9	MAST1_HUMAN	G	872	ENSP00000251472:D872G	ENSP00000251472:D872G	D	+	2	0	MAST1	12840505	1.000000	0.71417	0.191000	0.23289	0.513000	0.34164	3.899000	0.56288	1.913000	0.55393	0.459000	0.35465	GAT		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		Missense_Mutation
ZSWIM4	65249	broad.mit.edu	37	19	13923970	13923971	+	Missense_Mutation	DNP	CC	CC	TG	rs372756689		TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:13923970_13923971CC>TG	ENST00000254323.2	+	6	1361_1362	c.1172_1173CC>TG	c.(1171-1173)cCC>cTG	p.P391L	RN7SL619P_ENST00000581753.1_RNA|ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P108L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	391							zinc ion binding (GO:0008270)	p.P391L(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCATGGCCCCCGCCCCAGGTA	0.609																																																1	Substitution - Missense(1)	ovary(1)	19																																								13784971	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		Exception_encountered	19.37:g.13923970_13923971delinsTG	ENSP00000254323:p.Pro391Leu	Unknown		x	x	x	13784970		Missense_Mutation	DNP	ENST00000254323.2	37	CCDS32924.1	DNP	22	Broad																																																																																				0.609	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		Missense_Mutation
EMR3	84658	broad.mit.edu	37	19	14752392	14752392	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:14752392C>T	ENST00000253673.5	-	10	1187	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R	EMR3_ENST00000599900.1_Missense_Mutation_p.G148R|EMR3_ENST00000344373.4_Missense_Mutation_p.G311R|EMR3_ENST00000443157.2_Missense_Mutation_p.G237R	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	363					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G363R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACGCTCAGCCCCACGTAGGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	19											80.0	66.0	71.0					19																	14752392		2203	4300	6503	14613392	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1087G>A	19.37:g.14752392C>T	ENSP00000253673:p.Gly363Arg	Unknown		x	x	x	14613392		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717492	0.68844	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.67171	-0.25;-0.25;-0.25	3.68	3.68	0.42216	GPCR, family 2-like (1);	.	.	.	.	D	0.88104	0.6347	H	0.98276	4.19	0.32884	D	0.510943	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92567	0.6063	9	0.87932	D	0	.	12.9483	0.58386	0.0:1.0:0.0:0.0	.	237;311;363	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	R	237;363;311	ENSP00000396208:G237R;ENSP00000253673:G363R;ENSP00000340758:G311R	ENSP00000253673:G363R	G	-	1	0	EMR3	14613392	1.000000	0.71417	0.999000	0.59377	0.635000	0.38103	4.412000	0.59787	1.895000	0.54865	0.561000	0.74099	GGG		0.567	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		Missense_Mutation
UNC13A	23025	broad.mit.edu	37	19	17785535	17785535	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:17785535A>T	ENST00000519716.2	-	3	82	c.83T>A	c.(82-84)gTg>gAg	p.V28E	UNC13A_ENST00000551649.1_Missense_Mutation_p.V28E|UNC13A_ENST00000552293.1_Missense_Mutation_p.V28E|UNC13A_ENST00000428389.2_Missense_Mutation_p.V116E|UNC13A_ENST00000252773.7_Missense_Mutation_p.V28E|UNC13A_ENST00000550896.1_Missense_Mutation_p.V28E	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	28	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.V116E(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACATTCTGCACTTTCAGGGT	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											135.0	131.0	132.0					19																	17785535		2109	4252	6361	17646535	SO:0001583	missense	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.83T>A	19.37:g.17785535A>T	ENSP00000429562:p.Val28Glu	Unknown		x	x	x	17646535	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514560	0.64522	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000002	T	0.81673	0.4872	M	0.67953	2.075	0.50171	D	0.999854	D	0.89917	1.0	D	0.97110	1.0	D	0.83705	0.0184	10	0.87932	D	0	-16.5273	12.5081	0.55991	1.0:0.0:0.0:0.0	.	28	Q9UPW8	UN13A_HUMAN	E	28;116;28;28;28;28	ENSP00000429562:V28E;ENSP00000400409:V116E;ENSP00000252773:V28E;ENSP00000447236:V28E;ENSP00000447572:V28E;ENSP00000446831:V28E	ENSP00000252773:V28E	V	-	2	0	UNC13A	17646535	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	9.156000	0.94705	1.854000	0.53819	0.260000	0.18958	GTG		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		Missense_Mutation
DYRK1B	9149	broad.mit.edu	37	19	40321171	40321171	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr19:40321171C>G	ENST00000593685.1	-	4	684	c.216G>C	c.(214-216)caG>caC	p.Q72H	DYRK1B_ENST00000597639.1_Missense_Mutation_p.Q72H|DYRK1B_ENST00000601972.1_Missense_Mutation_p.Q72H|DYRK1B_ENST00000323039.5_Missense_Mutation_p.Q72H|DYRK1B_ENST00000430012.2_Missense_Mutation_p.Q72H|DYRK1B_ENST00000348817.3_Missense_Mutation_p.Q72H			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	72					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.Q72H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GTGGCGCCTGCTGGGCCCGCC	0.587																																																1	Substitution - Missense(1)	ovary(1)	19											79.0	67.0	71.0					19																	40321171		2203	4300	6503	45013011	SO:0001583	missense	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.216G>C	19.37:g.40321171C>G	ENSP00000469863:p.Gln72His	Unknown		x	x	x	45013011	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913121	0.72983	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58797	0.31;0.36;0.34	4.44	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.82630	2.6	0.58432	D	0.999997	D;B;D;D	0.54397	0.966;0.037;0.966;0.964	P;B;P;P	0.58873	0.497;0.06;0.497;0.847	T	0.69154	-0.5220	10	0.62326	D	0.03	.	7.9729	0.30138	0.0:0.799:0.0:0.201	.	72;72;72;72	B3KQI0;Q9Y463-2;Q9Y463;Q9Y463-3	.;.;DYR1B_HUMAN;.	H	72	ENSP00000312789:Q72H;ENSP00000221803:Q72H;ENSP00000403182:Q72H	ENSP00000312789:Q72H	Q	-	3	2	DYRK1B	45013011	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.421000	0.21280	0.312000	0.23038	0.563000	0.77884	CAG		0.587	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		Missense_Mutation
PXDN	7837	broad.mit.edu	37	2	1652025	1652025	+	Missense_Mutation	SNP	T	T	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:1652025T>G	ENST00000252804.4	-	17	3577	c.3527A>C	c.(3526-3528)tAc>tCc	p.Y1176S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1176					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Y1176S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TAGATTGCAGTAGACCCTGTA	0.567																																																1	Substitution - Missense(1)	ovary(1)	2											118.0	125.0	123.0					2																	1652025		1995	4179	6174	1631032	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3527A>C	2.37:g.1652025T>G	ENSP00000252804:p.Tyr1176Ser	Unknown		x	x	x	1631032	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	SNP	57	Broad	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311577	0.60414	.	.	ENSG00000130508	ENST00000252804	T	0.66815	-0.23	5.48	5.48	0.80851	.	0.062021	0.64402	D	0.000002	T	0.64864	0.2637	L	0.41124	1.26	0.52099	D	0.999941	P	0.41624	0.757	P	0.47626	0.552	T	0.68337	-0.5435	10	0.72032	D	0.01	-53.5128	10.8021	0.46495	0.1412:0.0:0.0:0.8588	.	1176	Q92626	PXDN_HUMAN	S	1176	ENSP00000252804:Y1176S	ENSP00000252804:Y1176S	Y	-	2	0	PXDN	1631032	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.227000	0.58612	2.092000	0.63282	0.529000	0.55759	TAC		0.567	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		Missense_Mutation
EIF2B4	8890	broad.mit.edu	37	2	27590650	27590650	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:27590650A>G	ENST00000347454.4	-	8	916	c.745T>C	c.(745-747)Tcc>Ccc	p.S249P	EIF2B4_ENST00000445933.2_Missense_Mutation_p.S248P|SNX17_ENST00000543024.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000537606.1_5'Flank|EIF2B4_ENST00000493344.2_Missense_Mutation_p.S270P|SNX17_ENST00000233575.2_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S269P	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	249					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATCCCTGGAGAGTTCTTCA	0.438																																																0			2											100.0	92.0	95.0					2																	27590650		2203	4300	6503	27444154	SO:0001583	missense	8890			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.745T>C	2.37:g.27590650A>G	ENSP00000233552:p.Ser249Pro	Unknown		x	x	x	27444154	Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	CCDS33164.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784195	0.70222	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.73	5.73	0.89815	.	0.184175	0.50627	D	0.000117	D	0.97256	0.9103	M	0.87827	2.91	0.58432	D	0.999999	D;D;B;P	0.71674	0.998;0.997;0.36;0.869	D;D;B;P	0.72075	0.976;0.976;0.319;0.561	D	0.97517	1.0070	10	0.54805	T	0.06	-5.1042	13.3914	0.60827	1.0:0.0:0.0:0.0	.	246;248;249;269	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	P	249;246;248;269;270	ENSP00000233552:S249P;ENSP00000394397:S248P;ENSP00000394869:S269P;ENSP00000429323:S270P	ENSP00000233552:S249P	S	-	1	0	EIF2B4	27444154	1.000000	0.71417	0.973000	0.42090	0.666000	0.39218	6.417000	0.73337	2.189000	0.69895	0.523000	0.50628	TCC		0.438	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			Missense_Mutation
PROM2	150696	broad.mit.edu	37	2	95952260	95952260	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:95952260G>A	ENST00000317620.9	+	17	2114	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	PROM2_ENST00000542147.1_Missense_Mutation_p.E612K|PROM2_ENST00000317668.4_Missense_Mutation_p.E661K|PROM2_ENST00000403131.2_Missense_Mutation_p.E661K	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	661					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.E661K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGCAGGAGGAGGCCCAAGG	0.622																																																1	Substitution - Missense(1)	ovary(1)	2											56.0	60.0	58.0					2																	95952260		2203	4300	6503	95315987	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1981G>A	2.37:g.95952260G>A	ENSP00000318270:p.Glu661Lys	Unknown		x	x	x	95315987	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741290	0.49151	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.66	2.86	0.33363	.	0.289691	0.29916	N	0.010873	T	0.60392	0.2265	M	0.77616	2.38	0.48288	D	0.999627	D	0.89917	1.0	D	0.91635	0.999	T	0.61574	-0.7035	10	0.10902	T	0.67	-6.8556	6.8396	0.23955	0.2103:0.0:0.7897:0.0	.	661	Q8N271	PROM2_HUMAN	K	661;661;661;612	ENSP00000385716:E661K;ENSP00000318520:E661K;ENSP00000318270:E661K;ENSP00000442542:E612K	ENSP00000318270:E661K	E	+	1	0	PROM2	95315987	0.999000	0.42202	0.760000	0.31359	0.133000	0.20885	3.313000	0.51935	0.584000	0.29591	0.448000	0.29417	GAG		0.622	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		Missense_Mutation
LRP2	4036	broad.mit.edu	37	2	170070307	170070307	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:170070307G>T	ENST00000263816.3	-	36	6185	c.5900C>A	c.(5899-5901)gCa>gAa	p.A1967E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1967					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A1967E(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCATGGACTGCAATTCCCCA	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											95.0	94.0	94.0					2																	170070307		2203	4300	6503	169778553	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5900C>A	2.37:g.170070307G>T	ENSP00000263816:p.Ala1967Glu	Unknown		x	x	x	169778553	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027486	0.75390	.	.	ENSG00000081479	ENST00000263816	D	0.92965	-3.14	5.96	3.12	0.35913	Six-bladed beta-propeller, TolB-like (1);	0.265184	0.42821	D	0.000657	D	0.94062	0.8097	M	0.81614	2.55	0.80722	D	1	D	0.64830	0.994	P	0.58130	0.833	D	0.92435	0.5957	10	0.66056	D	0.02	.	8.2908	0.31956	0.1358:0.0:0.7368:0.1274	.	1967	P98164	LRP2_HUMAN	E	1967	ENSP00000263816:A1967E	ENSP00000263816:A1967E	A	-	2	0	LRP2	169778553	1.000000	0.71417	0.223000	0.23860	0.711000	0.40976	5.504000	0.66968	0.376000	0.24707	0.650000	0.86243	GCA		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		Missense_Mutation
MTX2	10651	broad.mit.edu	37	2	177191609	177191609	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:177191609G>A	ENST00000249442.6	+	5	476	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	MTX2_ENST00000443241.1_Missense_Mutation_p.V33I|MTX2_ENST00000392529.2_Missense_Mutation_p.V79I	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	89					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.V89I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGTCCAATAGTCCAATTTGT	0.279																																																1	Substitution - Missense(1)	ovary(1)	2											63.0	69.0	67.0					2																	177191609		2201	4279	6480	176899855	SO:0001583	missense	10651			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.265G>A	2.37:g.177191609G>A	ENSP00000249442:p.Val89Ile	Unknown		x	x	x	176899855	A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	ENST00000249442.6	37	CCDS2272.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054357	0.55218	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.37235	2.63;2.63;1.21;2.63	5.44	4.55	0.56014	.	0.059595	0.64402	N	0.000003	T	0.25644	0.0624	L	0.34521	1.04	0.58432	D	0.999999	B;B	0.15141	0.001;0.012	B;B	0.20955	0.032;0.022	T	0.08310	-1.0728	10	0.02654	T	1	-13.1181	14.555	0.68094	0.0716:0.0:0.9284:0.0	.	89;79	O75431;Q8IZ68	MTX2_HUMAN;.	I	89;79;33;89	ENSP00000249442:V89I;ENSP00000376314:V79I;ENSP00000414176:V33I;ENSP00000398757:V89I	ENSP00000249442:V89I	V	+	1	0	MTX2	176899855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.388000	0.79795	1.264000	0.44198	0.557000	0.71058	GTC		0.279	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554		Missense_Mutation
COL4A4	1286	broad.mit.edu	37	2	227872074	227872074	+	Silent	SNP	G	G	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:227872074G>T	ENST00000396625.3	-	48	5247	c.5040C>A	c.(5038-5040)atC>atA	p.I1680I	COL4A4_ENST00000329662.7_Silent_p.I1677I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1680	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.I1680I(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCACCGGCTGATTTTCTGGC	0.502																																																1	Substitution - coding silent(1)	ovary(1)	2											352.0	352.0	352.0					2																	227872074		1963	4164	6127	227580318	SO:0001819	synonymous_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.5040C>A	2.37:g.227872074G>T		Unknown		x	x	x	227580318	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1	SNP	45	Broad																																																																																				0.502	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		Silent
SPHKAP	80309	broad.mit.edu	37	2	228855883	228855883	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:228855883G>T	ENST00000392056.3	-	11	4838	c.4792C>A	c.(4792-4794)Cct>Act	p.P1598T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1569T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1598						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1617T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTCCCGTAGGCGGTCCAGAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											55.0	55.0	55.0					2																	228855883		2203	4300	6503	228564127	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4792C>A	2.37:g.228855883G>T	ENSP00000375909:p.Pro1598Thr	Unknown		x	x	x	228564127	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	1.976	-0.435361	0.04669	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12147	2.71;2.71	6.17	3.05	0.35203	A-kinase anchor 110kDa, C-terminal (1);	0.370884	0.31636	N	0.007315	T	0.13030	0.0316	L	0.47716	1.5	0.09310	N	1	P;B	0.43578	0.811;0.052	P;B	0.46419	0.516;0.016	T	0.09378	-1.0677	10	0.27785	T	0.31	.	2.8837	0.05655	0.3309:0.2347:0.4344:0.0	.	1598;1569	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1598;1569	ENSP00000375909:P1598T;ENSP00000339886:P1569T	ENSP00000339886:P1569T	P	-	1	0	SPHKAP	228564127	0.501000	0.26099	0.005000	0.12908	0.011000	0.07611	1.392000	0.34486	0.927000	0.37143	0.655000	0.94253	CCT		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		Missense_Mutation
GIGYF2	26058	broad.mit.edu	37	2	233684544	233684544	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:233684544C>T	ENST00000409547.1	+	23	2689	c.2378C>T	c.(2377-2379)gCt>gTt	p.A793V	GIGYF2_ENST00000409451.3_Missense_Mutation_p.A814V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A793V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A624V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.A815V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A815V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A787V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	793	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A793V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAGGAAGAGGCTCTGCGTCGC	0.473																																																1	Substitution - Missense(1)	ovary(1)	2											28.0	32.0	31.0					2																	233684544		2203	4300	6503	233392788	SO:0001583	missense	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2378C>T	2.37:g.233684544C>T	ENSP00000386537:p.Ala793Val	Unknown		x	x	x	233392788	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659620	0.67586	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T	0.76968	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.06	5.04	5.04	0.67666	.	0.051269	0.85682	D	0.000000	T	0.79633	0.4479	L	0.40543	1.245	0.58432	D	0.999999	D;P;P;P	0.54207	0.965;0.888;0.888;0.888	P;B;B;B	0.53266	0.722;0.3;0.3;0.3	T	0.78738	-0.2087	10	0.36615	T	0.2	-5.3235	18.3852	0.90464	0.0:1.0:0.0:0.0	.	624;814;793;787	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	V	815;793;815;793;787;814;787;624	ENSP00000362667:A815V;ENSP00000362664:A793V;ENSP00000386765:A815V;ENSP00000386537:A793V;ENSP00000387070:A787V;ENSP00000387170:A814V;ENSP00000410297:A787V;ENSP00000411505:A624V	ENSP00000362664:A793V	A	+	2	0	GIGYF2	233392788	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.007000	0.70731	2.333000	0.79357	0.462000	0.41574	GCT		0.473	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		Missense_Mutation
AGXT	189	broad.mit.edu	37	2	241817519	241817519	+	Missense_Mutation	SNP	C	C	A	rs144007007	byFrequency	TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr2:241817519C>A	ENST00000307503.3	+	10	1410	c.1023C>A	c.(1021-1023)gaC>gaA	p.D341E		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	341					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.D341E(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	ACGTCATAGACCACTTCGACA	0.622													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17181	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	2						C	GLU/ASP	7,4399	12.9+/-30.5	0,7,2196	64.0	57.0	60.0		1023	-1.6	0.0	2	dbSNP_134	60	0,8600		0,0,4300	yes	missense	AGXT	NM_000030.2	45	0,7,6496	AA,AC,CC		0.0,0.1589,0.0538	benign	341/393	241817519	7,12999	2203	4300	6503	241466192	SO:0001583	missense	189			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.1023C>A	2.37:g.241817519C>A	ENSP00000302620:p.Asp341Glu	Unknown		x	x	x	241466192	Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	CCDS2543.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134160	0.01742	0.001589	0.0	ENSG00000172482	ENST00000307503	D	0.85258	-1.96	4.02	-1.64	0.08318	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.184675	0.47455	D	0.000236	T	0.65647	0.2711	L	0.31476	0.935	0.25531	N	0.987273	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47586	-0.9106	10	0.07482	T	0.82	-30.918	2.2717	0.04092	0.1212:0.2918:0.3585:0.2286	.	219;341	Q9UJX1;P21549	.;SPYA_HUMAN	E	341	ENSP00000302620:D341E	ENSP00000302620:D341E	D	+	3	2	AGXT	241466192	0.000000	0.05858	0.041000	0.18516	0.001000	0.01503	-0.486000	0.06513	-0.017000	0.14103	-0.257000	0.10917	GAC		0.622	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		Missense_Mutation
DNMT3B	1789	broad.mit.edu	37	20	31390200	31390200	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr20:31390200G>T	ENST00000328111.2	+	20	2476	c.2155G>T	c.(2155-2157)Gtg>Ttg	p.V719L	DNMT3B_ENST00000456297.2_Missense_Mutation_p.V623L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V657L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V711L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V699L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V699L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V699L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	719	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.V719L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTAATCCAGTGATGATTGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	20											183.0	172.0	175.0					20																	31390200		2203	4300	6503	30853861	SO:0001583	missense	1789				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2155G>T	20.37:g.31390200G>T	ENSP00000328547:p.Val719Leu	Unknown		x	x	x	30853861	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662965	0.88251	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;T;D	0.96365	-3.9;-3.9;-3.99;-3.99;-3.99;1.01;-3.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.81497	2.545	0.80722	D	1	P;D;P;B;P;B;D	0.56287	0.774;0.975;0.93;0.281;0.733;0.281;0.961	P;P;P;B;P;B;D	0.67231	0.627;0.836;0.734;0.323;0.493;0.323;0.95	D	0.98304	1.0520	10	0.62326	D	0.03	-29.1751	19.0954	0.93248	0.0:0.0:1.0:0.0	.	623;657;418;711;699;699;719	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	L	719;699;699;657;623;699;711	ENSP00000328547:V719L;ENSP00000313397:V699L;ENSP00000337764:V699L;ENSP00000403169:V657L;ENSP00000412305:V623L;ENSP00000345105:V699L;ENSP00000201963:V711L	ENSP00000201963:V711L	V	+	1	0	DNMT3B	30853861	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.823000	0.97156	0.650000	0.86243	GTG		0.493	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		Missense_Mutation
BPIFB3	359710	broad.mit.edu	37	20	31644409	31644409	+	Silent	SNP	T	T	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr20:31644409T>C	ENST00000375494.3	+	2	186	c.186T>C	c.(184-186)gcT>gcC	p.A62A	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	62	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A62A(1)									CGGTCACAGCTGTGAACCGGG	0.597																																																1	Substitution - coding silent(1)	ovary(1)	20											94.0	95.0	94.0					20																	31644409		2203	4300	6503	31108070	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.186T>C	20.37:g.31644409T>C		Unknown		x	x	x	31108070	Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1	SNP	55	Broad																																																																																				0.597	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		Silent
RIMS4	140730	broad.mit.edu	37	20	43386740	43386740	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr20:43386740G>A	ENST00000372851.3	-	3	388	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	RIMS4_ENST00000541604.2_Missense_Mutation_p.R109C	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	108					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R108C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AGGGTCTGGCGGCCCACAAAC	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											41.0	44.0	43.0					20																	43386740		2203	4300	6503	42820154	SO:0001583	missense	140730				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.322C>T	20.37:g.43386740G>A	ENSP00000361942:p.Arg108Cys	Unknown		x	x	x	42820154	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916972	0.92249	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.28069	1.63;1.68	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.941;0.999	T	0.63047	-0.6724	10	0.87932	D	0	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	109;108	E1P613;Q9H426	.;RIMS4_HUMAN	C	108;109	ENSP00000361942:R108C;ENSP00000439287:R109C	ENSP00000361942:R108C	R	-	1	0	RIMS4	42820154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.391000	0.73208	2.687000	0.91594	0.655000	0.94253	CGC		0.597	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		Missense_Mutation
ELMO2	63916	broad.mit.edu	37	20	45004386	45004386	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr20:45004386T>A	ENST00000290246.6	-	12	1045	c.851A>T	c.(850-852)cAt>cTt	p.H284L	ELMO2_ENST00000445496.2_Missense_Mutation_p.H101L|ELMO2_ENST00000396391.1_Missense_Mutation_p.H284L|ELMO2_ENST00000372176.1_Missense_Mutation_p.H196L|ELMO2_ENST00000454865.2_Missense_Mutation_p.H16L|ELMO2_ENST00000352077.2_Missense_Mutation_p.H282L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.H296L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	284					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.H284L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATATAGCTGATGGGCCATCTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	20											128.0	113.0	118.0					20																	45004386		2203	4300	6503	44437793	SO:0001583	missense	63916			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.851A>T	20.37:g.45004386T>A	ENSP00000290246:p.His284Leu	Unknown		x	x	x	44437793	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	CCDS13398.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942732	0.92526	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.38077	2.24;1.98;2.24;1.67;1.6;1.29;2.23;1.16;1.18	4.99	4.99	0.66335	Terpene synthase-like (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.978;0.999;0.991;0.98;0.986	T	0.69172	-0.5215	10	0.87932	D	0	-17.0858	14.0317	0.64619	0.0:0.0:0.0:1.0	.	296;16;284;101;284	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	L	284;196;284;296;101;16;282;72;284	ENSP00000290246:H284L;ENSP00000361249:H196L;ENSP00000379673:H284L;ENSP00000396519:H296L;ENSP00000409920:H101L;ENSP00000415641:H16L;ENSP00000326172:H282L;ENSP00000388962:H72L;ENSP00000416181:H284L	ENSP00000290246:H284L	H	-	2	0	ELMO2	44437793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.868000	0.87116	2.096000	0.63516	0.454000	0.30748	CAT		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		Missense_Mutation
CTCFL	140690	broad.mit.edu	37	20	56099088	56099088	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr20:56099088G>T	ENST00000608263.1	-	1	835	c.174C>A	c.(172-174)gaC>gaA	p.D58E	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608158.1_Missense_Mutation_p.D58E|CTCFL_ENST00000429804.3_Missense_Mutation_p.D58E|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.D58E|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Missense_Mutation_p.D58E|CTCFL_ENST00000608440.1_Missense_Mutation_p.D58E|CTCFL_ENST00000423479.3_Missense_Mutation_p.D58E|CTCFL_ENST00000422869.2_Missense_Mutation_p.D58E|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000432255.2_Missense_Mutation_p.D58E|CTCFL_ENST00000608425.1_Missense_Mutation_p.D58E|CTCFL_ENST00000481655.2_Missense_Mutation_p.D58E|CTCFL_ENST00000371196.2_Missense_Mutation_p.D58E|CTCFL_ENST00000608903.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	58					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.D58E(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCAGGACGCTGTCCTGGAAGG	0.592																																																1	Substitution - Missense(1)	ovary(1)	20											129.0	140.0	136.0					20																	56099088		2203	4300	6503	55532494	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.174C>A	20.37:g.56099088G>T	ENSP00000476783:p.Asp58Glu	Unknown		x	x	x	55532494	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	11.54	1.667953	0.29604	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.09350	2.99;3.02;3.02;3.2;3.05;3.38;3.05;3.68;3.05	4.45	2.46	0.29980	.	1.429750	0.04724	N	0.419981	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B;B;B;P;B;B;B;B	0.38565	0.072;0.0;0.033;0.637;0.033;0.033;0.118;0.118	B;B;B;B;B;B;B;B	0.30495	0.021;0.0;0.019;0.116;0.013;0.019;0.021;0.021	T	0.20538	-1.0272	10	0.02654	T	1	-1.0719	6.1325	0.20213	0.1057:0.1905:0.7037:0.0	.	58;58;58;58;58;58;58;58	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	E	58	ENSP00000415579:D58E;ENSP00000243914:D58E;ENSP00000360239:D58E;ENSP00000415329:D58E;ENSP00000392034:D58E;ENSP00000413713:D58E;ENSP00000403369:D58E;ENSP00000409344:D58E;ENSP00000399061:D58E	ENSP00000243914:D58E	D	-	3	2	CTCFL	55532494	0.030000	0.19436	0.000000	0.03702	0.003000	0.03518	1.513000	0.35823	0.314000	0.23086	-0.199000	0.12753	GAC		0.592	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		Missense_Mutation
ABCF3	55324	broad.mit.edu	37	3	183909027	183909027	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr3:183909027A>T	ENST00000429586.2	+	16	1738	c.1553A>T	c.(1552-1554)gAg>gTg	p.E518V	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.E512V	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	518	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E518V(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGATCTCGAGTCTCGCATC	0.537																																																1	Substitution - Missense(1)	ovary(1)	3											188.0	162.0	171.0					3																	183909027		2203	4300	6503	185391721	SO:0001583	missense	55324			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1553A>T	3.37:g.183909027A>T	ENSP00000411471:p.Glu518Val	Unknown		x	x	x	185391721	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	CCDS3254.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834964	0.91036	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	T;T	0.80393	-1.37;-1.37	5.93	5.93	0.95920	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.100946	0.64402	D	0.000003	T	0.79616	0.4476	L	0.43923	1.385	0.80722	D	1	P;P	0.52692	0.897;0.955	P;P	0.46975	0.533;0.52	T	0.82295	-0.0528	10	0.87932	D	0	-25.7026	15.5577	0.76213	1.0:0.0:0.0:0.0	.	512;518	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	V	518;512	ENSP00000411471:E518V;ENSP00000292808:E512V	ENSP00000292808:E512V	E	+	2	0	ABCF3	185391721	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.962000	0.93254	2.263000	0.75096	0.533000	0.62120	GAG		0.537	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		Missense_Mutation
MROH2B	133558	broad.mit.edu	37	5	41048528	41048528	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr5:41048528C>G	ENST00000399564.4	-	16	2032	c.1582G>C	c.(1582-1584)Gct>Cct	p.A528P	MROH2B_ENST00000506092.2_Missense_Mutation_p.A83P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	528								p.A528P(1)									ATTGCACCAGCCCCACGTAAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	5											93.0	86.0	88.0					5																	41048528		1883	4103	5986	41084285	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1582G>C	5.37:g.41048528C>G	ENSP00000382476:p.Ala528Pro	Unknown		x	x	x	41084285	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060365	0.19987	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.09255	3.0;3.0	4.87	1.16	0.20824	Armadillo-type fold (1);	0.866255	0.10125	N	0.712891	T	0.13457	0.0326	L	0.55481	1.735	0.09310	N	1	P	0.35656	0.514	B	0.41332	0.354	T	0.28933	-1.0028	10	0.45353	T	0.12	.	6.4791	0.22053	0.0:0.6078:0.0:0.3922	.	528	Q7Z745	HTRB2_HUMAN	P	83;232;528	ENSP00000441504:A83P;ENSP00000382476:A528P	ENSP00000296803:A232P	A	-	1	0	HEATR7B2	41084285	0.009000	0.17119	0.048000	0.18961	0.082000	0.17680	0.382000	0.20635	0.357000	0.24183	-0.137000	0.14449	GCT		0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		Missense_Mutation
ACOT12	134526	broad.mit.edu	37	5	80689815	80689815	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr5:80689815C>A	ENST00000307624.3	-	1	147	c.119G>T	c.(118-120)tGc>tTc	p.C40F	ACOT12_ENST00000513751.1_Missense_Mutation_p.C40F	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	40	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.C40F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		acccgccAGGCAGGCGGTGGT	0.771																																																1	Substitution - Missense(1)	ovary(1)	5											2.0	2.0	2.0					5																	80689815		1472	3119	4591	80725571	SO:0001583	missense	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.119G>T	5.37:g.80689815C>A	ENSP00000303246:p.Cys40Phe	Unknown		x	x	x	80725571	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911353	0.72983	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.21031	2.03;2.03	4.72	4.72	0.59763	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	N	0.20445	0.575	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.70016	0.967;0.897	T	0.06373	-1.0830	10	0.30854	T	0.27	-0.0183	17.4706	0.87645	0.0:1.0:0.0:0.0	.	40;40	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	F	40	ENSP00000303246:C40F;ENSP00000421628:C40F	ENSP00000303246:C40F	C	-	2	0	ACOT12	80725571	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	6.154000	0.71826	2.435000	0.82474	0.655000	0.94253	TGC		0.771	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		Missense_Mutation
GMPR	2766	broad.mit.edu	37	6	16290697	16290697	+	Silent	SNP	T	T	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr6:16290697T>A	ENST00000259727.4	+	8	816	c.702T>A	c.(700-702)gcT>gcA	p.A234A	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	234			A -> T. {ECO:0000269|PubMed:1757097}.		nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.A234A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTAGGAGCTGGAGCAGATT	0.512																																																1	Substitution - coding silent(1)	ovary(1)	6											272.0	268.0	269.0					6																	16290697		2203	4300	6503	16398676	SO:0001819	synonymous_variant	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.702T>A	6.37:g.16290697T>A		Unknown		x	x	x	16398676	Q96HQ6	Silent	SNP	ENST00000259727.4	37	CCDS4537.1	SNP	55	Broad																																																																																				0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			Silent
OR5V1	81696	broad.mit.edu	37	6	29323191	29323191	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr6:29323191C>T	ENST00000377154.1	-	4	1081	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	OR5V1_ENST00000543825.1_Missense_Mutation_p.R261Q			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAGATGGGCCGTACATATGT	0.433																																					Ovarian(32;43 883 21137 32120 42650)											1	Substitution - Missense(1)	ovary(1)	6											89.0	88.0	88.0					6																	29323191		2203	4299	6502	29431170	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.782G>A	6.37:g.29323191C>T	ENSP00000366359:p.Arg261Gln	Unknown		x	x	x	29431170	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	8.751	0.921178	0.17982	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.37235	1.21;1.21	4.53	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.279943	0.18565	N	0.137514	T	0.29093	0.0723	L	0.39898	1.24	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.08617	-1.0713	10	0.30854	T	0.27	-6.5251	9.5835	0.39501	0.0:0.7573:0.0:0.2427	.	261	Q9UGF6	OR5V1_HUMAN	Q	261	ENSP00000366359:R261Q;ENSP00000443309:R261Q	ENSP00000366356:R261Q	R	-	2	0	OR5V1	29431170	0.000000	0.05858	0.067000	0.19924	0.699000	0.40488	-0.564000	0.05936	0.634000	0.30469	0.543000	0.68304	CGG		0.433	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			Missense_Mutation
TFAP2D	83741	broad.mit.edu	37	6	50740384	50740384	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr6:50740384C>T	ENST00000008391.3	+	8	1394	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.P389L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTTGGGACTCCGGCAATATGT	0.428																																																1	Substitution - Missense(1)	ovary(1)	6											56.0	55.0	55.0					6																	50740384		2203	4300	6503	50848343	SO:0001583	missense	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1166C>T	6.37:g.50740384C>T	ENSP00000008391:p.Pro389Leu	Unknown		x	x	x	50848343		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309643	0.81247	.	.	ENSG00000008197	ENST00000008391	D	0.96992	-4.2	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98903	1.0777	10	0.87932	D	0	-13.8523	19.3034	0.94151	0.0:1.0:0.0:0.0	.	389	Q7Z6R9	AP2D_HUMAN	L	389	ENSP00000008391:P389L	ENSP00000008391:P389L	P	+	2	0	TFAP2D	50848343	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.577000	0.86979	0.467000	0.42956	CCG		0.428	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		Missense_Mutation
BAZ1B	9031	broad.mit.edu	37	7	72907176	72907176	+	Missense_Mutation	SNP	T	T	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr7:72907176T>A	ENST00000339594.4	-	5	985	c.647A>T	c.(646-648)aAa>aTa	p.K216I	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K216I	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	216	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.K216I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCAGAAATTTTGGAGGAGC	0.333																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)											1	Substitution - Missense(1)	ovary(1)	7											121.0	118.0	119.0					7																	72907176		2203	4299	6502	72545112	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.647A>T	7.37:g.72907176T>A	ENSP00000342434:p.Lys216Ile	Unknown		x	x	x	72545112	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	31	5.078816	0.94050	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.62232	0.04;0.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	L	0.34521	1.04	0.58432	D	0.999999	D	0.59767	0.986	P	0.53649	0.731	T	0.64884	-0.6302	10	0.46703	T	0.11	-11.6195	15.1539	0.72723	0.0:0.0:0.0:1.0	.	216	Q9UIG0	BAZ1B_HUMAN	I	216	ENSP00000342434:K216I;ENSP00000385442:K216I	ENSP00000342434:K216I	K	-	2	0	BAZ1B	72545112	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.114000	0.77103	2.172000	0.68678	0.477000	0.44152	AAA		0.333	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		Missense_Mutation
ABCB1	5243	broad.mit.edu	37	7	87173491	87173491	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr7:87173491C>A	ENST00000265724.3	-	18	2582	c.2165G>T	c.(2164-2166)gGa>gTa	p.G722V	ABCB1_ENST00000543898.1_Missense_Mutation_p.G658V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	722	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G722V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTGCAGGCCTCCATTTATAAT	0.358																																																1	Substitution - Missense(1)	ovary(1)	7											111.0	110.0	110.0					7																	87173491		2203	4300	6503	87011427	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2165G>T	7.37:g.87173491C>A	ENSP00000265724:p.Gly722Val	Unknown		x	x	x	87011427	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011495	0.75046	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92048	-2.96;-2.96	6.01	6.01	0.97437	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.098391	0.64402	D	0.000001	D	0.97873	0.9301	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98354	1.0545	10	0.87932	D	0	-21.6625	20.5211	0.99222	0.0:1.0:0.0:0.0	.	658;722	B5AK60;P08183	.;MDR1_HUMAN	V	503;722;658	ENSP00000265724:G722V;ENSP00000444095:G658V	ENSP00000265724:G722V	G	-	2	0	ABCB1	87011427	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	7.243000	0.78219	2.861000	0.98227	0.650000	0.86243	GGA		0.358	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		Missense_Mutation
BAIAP2L1	55971	broad.mit.edu	37	7	97937073	97937073	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr7:97937073C>G	ENST00000005260.8	-	10	1306	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	364	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.G364A(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GATGACATCTCCCTGTGCAAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	7											204.0	148.0	167.0					7																	97937073		2203	4300	6503	97775009	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1091G>C	7.37:g.97937073C>G	ENSP00000005260:p.Gly364Ala	Unknown		x	x	x	97775009	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901586	0.72754	.	.	ENSG00000006453	ENST00000005260	T	0.69435	-0.4	4.87	3.99	0.46301	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.82006	0.4943	M	0.90650	3.135	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.85350	0.1101	10	0.66056	D	0.02	-14.97	12.7419	0.57257	0.0:0.9196:0.0:0.0804	.	364	Q9UHR4	BI2L1_HUMAN	A	364	ENSP00000005260:G364A	ENSP00000005260:G364A	G	-	2	0	AC093799.1	97775009	1.000000	0.71417	0.988000	0.46212	0.775000	0.43874	5.741000	0.68638	1.195000	0.43115	-0.252000	0.11476	GGA		0.557	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		Missense_Mutation
PLOD3	8985	broad.mit.edu	37	7	100849632	100849633	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr7:100849632_100849633GT>TG	ENST00000223127.3	-	19	2544_2545	c.2146_2147AC>CA	c.(2146-2148)ACc>CAc	p.T716H		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	716	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.T716H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTGGTAGTGGGTGAGGCGGCCG	0.639																																																1	Substitution - Missense(1)	ovary(1)	7																																								100636353	SO:0001583	missense	8985			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.2146_2147delinsTG	7.37:g.100849632_100849633delinsTG	ENSP00000223127:p.Thr716His	Unknown		x	x	x	100636352	B2R6W6|Q540C3	Missense_Mutation	DNP	ENST00000223127.3	37	CCDS5715.1	DNP	44	Broad																																																																																				0.639	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			Missense_Mutation
DENND2A	27147	broad.mit.edu	37	7	140302091	140302091	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr7:140302091C>G	ENST00000275884.6	-	2	524	c.107G>C	c.(106-108)aGa>aCa	p.R36T	DENND2A_ENST00000537639.1_Missense_Mutation_p.R36T|DENND2A_ENST00000492720.1_Missense_Mutation_p.R36T|DENND2A_ENST00000496613.1_Missense_Mutation_p.R36T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	36					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R36T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGGTCTGGCTCTGGCAGATGG	0.547																																																1	Substitution - Missense(1)	ovary(1)	7											139.0	129.0	132.0					7																	140302091		1938	4160	6098	139948560	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.107G>C	7.37:g.140302091C>G	ENSP00000275884:p.Arg36Thr	Unknown		x	x	x	139948560	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806522	0.31961	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.91	-1.74	0.08056	.	2.488840	0.01905	N	0.039448	T	0.70272	0.3205	L	0.52573	1.65	0.09310	N	1	B;P	0.37914	0.302;0.611	B;B	0.32533	0.124;0.147	T	0.59778	-0.7390	10	0.72032	D	0.01	5.9864	6.9419	0.24498	0.0:0.2111:0.256:0.5329	.	36;36	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	T	36	ENSP00000275884:R36T;ENSP00000442245:R36T;ENSP00000419654:R36T;ENSP00000419464:R36T;ENSP00000418844:R36T;ENSP00000418088:R36T	ENSP00000275884:R36T	R	-	2	0	DENND2A	139948560	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.429000	0.06982	-0.598000	0.05806	-0.136000	0.14681	AGA		0.547	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		Missense_Mutation
OR2A7	401427	broad.mit.edu	37	7	143955998	143955998	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr7:143955998A>G	ENST00000493325.1	-	1	817	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242P(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CAGAGGTGGGAGAAGCAGGTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	7											199.0	202.0	201.0					7																	143955998		2203	4300	6503	143586931	SO:0001583	missense	401427				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.724T>C	7.37:g.143955998A>G	ENSP00000420502:p.Ser242Pro	Unknown		x	x	x	143586931	B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	CCDS55177.1	SNP	11	Broad	.	.	.	.	.	.	.	.	.	.	a	9.919	1.211737	0.22289	.	.	ENSG00000243896	ENST00000493325	T	0.39592	1.07	3.17	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66297	0.2775	M	0.86864	2.845	0.29099	N	0.881613	D	0.89917	1.0	D	0.97110	1.0	T	0.61098	-0.7131	9	0.87932	D	0	.	10.0247	0.42063	1.0:0.0:0.0:0.0	.	242	Q96R45	OR2A7_HUMAN	P	242	ENSP00000420502:S242P	ENSP00000420502:S242P	S	-	1	0	OR2A7	143586931	0.990000	0.36364	0.997000	0.53966	0.095000	0.18619	2.857000	0.48349	1.676000	0.50930	0.416000	0.27883	TCC		0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			Missense_Mutation
EIF3E	3646	broad.mit.edu	37	8	109240604	109240604	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr8:109240604A>T	ENST00000220849.5	-	7	676	c.614T>A	c.(613-615)cTt>cAt	p.L205H	EIF3E_ENST00000519517.1_5'UTR|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519030.1_Missense_Mutation_p.L112H	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.L205H(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGAGACTGAAGTGGAGAACT	0.348																																					GBM(15;360 410 8460 34179 52246)											1	Substitution - Missense(1)	ovary(1)	8											74.0	74.0	74.0					8																	109240604		2203	4300	6503	109309780	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.614T>A	8.37:g.109240604A>T	ENSP00000220849:p.Leu205His	Unknown		x	x	x	109309780		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575827	0.86645	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.51817	0.69;0.69;0.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.75884	2.315	0.80722	D	1	D;P	0.89917	1.0;0.939	D;B	0.91635	0.999;0.446	T	0.73375	-0.4002	10	0.87932	D	0	-11.5618	15.9153	0.79512	1.0:0.0:0.0:0.0	.	205;205	B2R806;P60228	.;EIF3E_HUMAN	H	205;112;78	ENSP00000220849:L205H;ENSP00000428796:L112H;ENSP00000430839:L78H	ENSP00000220849:L205H	L	-	2	0	EIF3E	109309780	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.287000	0.95975	2.213000	0.71641	0.477000	0.44152	CTT		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		Missense_Mutation
ASAP1	50807	broad.mit.edu	37	8	131073206	131073206	+	Silent	SNP	T	T	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr8:131073206T>C	ENST00000518721.1	-	28	3038	c.2811A>G	c.(2809-2811)ggA>ggG	p.G937G	ASAP1_ENST00000357668.1_Silent_p.G937G	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	937	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.G937G(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGGCAGGTCTCCAGGTGGTG	0.562																																																1	Substitution - coding silent(1)	ovary(1)	8											92.0	110.0	104.0					8																	131073206		2203	4300	6503	131142388	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2811A>G	8.37:g.131073206T>C		Unknown		x	x	x	131142388	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	10.07	1.248660	0.22880	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.43	1.85	0.25348	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47699	-0.9097	4	.	.	.	.	8.2688	0.31831	0.0:0.229:0.0:0.771	.	.	.	.	G	758;294	.	.	R	-	1	2	ASAP1	131142388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.758000	0.26447	0.380000	0.24823	0.533000	0.62120	AGA		0.562	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		Silent
ERMP1	79956	broad.mit.edu	37	9	5801200	5801200	+	Silent	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr9:5801200C>G	ENST00000339450.5	-	11	2132	c.2043G>C	c.(2041-2043)ccG>ccC	p.P681P	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Silent_p.P259P|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	681						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P681P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TCTTTGGCTTCGGATTAGCAG	0.398																																																1	Substitution - coding silent(1)	ovary(1)	9											116.0	113.0	114.0					9																	5801200		2203	4300	6503	5791200	SO:0001819	synonymous_variant	79956			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2043G>C	9.37:g.5801200C>G		Unknown		x	x	x	5791200	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1	SNP	31	Broad																																																																																				0.398	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		Silent
TMEM2	23670	broad.mit.edu	37	9	74365245	74365245	+	Silent	SNP	T	T	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr9:74365245T>C	ENST00000377044.4	-	2	584	c.45A>G	c.(43-45)caA>caG	p.Q15Q	TMEM2_ENST00000377066.5_Silent_p.Q15Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	15					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q15Q(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATTCTGAGGTTGGAGGAAAG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	9											66.0	66.0	66.0					9																	74365245		2203	4300	6503	73555065	SO:0001819	synonymous_variant	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.45A>G	9.37:g.74365245T>C		Unknown		x	x	x	73555065	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	CCDS6638.1	SNP	60	Broad																																																																																				0.453	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		Silent
VAV2	7410	broad.mit.edu	37	9	136677286	136677286	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chr9:136677286C>G	ENST00000371850.3	-	5	533	c.502G>C	c.(502-504)Ggg>Cgg	p.G168R	VAV2_ENST00000371851.1_Missense_Mutation_p.G168R|VAV2_ENST00000406606.3_Missense_Mutation_p.G168R	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	168					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G168R(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ATGTCGTCCCCTCCATCCTCA	0.662																																																1	Substitution - Missense(1)	ovary(1)	9											266.0	166.0	200.0					9																	136677286		2203	4300	6503	135667107	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.502G>C	9.37:g.136677286C>G	ENSP00000360916:p.Gly168Arg	Unknown		x	x	x	135667107	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679558	0.88542	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.61040	0.14;0.14;0.14	5.49	5.49	0.81192	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73538	-0.3951	10	0.72032	D	0.01	.	14.8531	0.70313	0.0:1.0:0.0:0.0	.	168;168	P52735;P52735-3	VAV2_HUMAN;.	R	168	ENSP00000360916:G168R;ENSP00000360917:G168R;ENSP00000385362:G168R	ENSP00000317258:G168R	G	-	1	0	VAV2	135667107	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	7.065000	0.76727	2.574000	0.86865	0.555000	0.69702	GGG		0.662	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			Missense_Mutation
THOC2	57187	broad.mit.edu	37	X	122759896	122759896	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2077-01	TCGA-23-2077-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-23-2077-01	TCGA-23-2077-10	g.chrX:122759896G>C	ENST00000245838.8	-	25	2955	c.2924C>G	c.(2923-2925)aCa>aGa	p.T975R	THOC2_ENST00000355725.4_Missense_Mutation_p.T975R|THOC2_ENST00000491737.1_Missense_Mutation_p.T860R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	975					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.T896R(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TAGAAATTTTGTGATGGTCTC	0.338																																																1	Substitution - Missense(1)	ovary(1)	X											73.0	62.0	65.0					X																	122759896		1800	4067	5867	122587577	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2924C>G	X.37:g.122759896G>C	ENSP00000245838:p.Thr975Arg	Unknown		x	x	x	122587577	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	SNP	48	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880754|3.880754	0.72294|0.72294	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000438358|ENST00000245838;ENST00000355725;ENST00000491737	.|T;T;T	.|0.24350	.|1.86;1.86;1.86	5.83|5.83	4.96|4.96	0.65561|0.65561	.|THO complex, subunitTHOC2, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51126|0.51126	0.1656|0.1656	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.72982	.|0.979	T|T	0.52124|0.52124	-0.8617|-0.8617	5|10	.|0.42905	.|T	.|0.14	-15.7862|-15.7862	16.0817|16.0817	0.81010|0.81010	0.0:0.1303:0.8696:0.0|0.0:0.1303:0.8696:0.0	.|.	.|975	.|Q8NI27	.|THOC2_HUMAN	Q|R	47|975;975;860	.|ENSP00000245838:T975R;ENSP00000347959:T975R;ENSP00000419795:T860R	.|ENSP00000245838:T975R	H|T	-|-	3|2	2|0	THOC2|THOC2	122587577|122587577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.810000|9.810000	0.99221|0.99221	1.207000|1.207000	0.43291|0.43291	0.600000|0.600000	0.82982|0.82982	CAC|ACA		0.338	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			Missense_Mutation
