#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPTA1	6708	broad.mit.edu	37	1	158639553	158639553	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr1:158639553T>C	ENST00000368147.4	-	13	1803	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	541					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCAATCAATTTGGTTGCAG	0.418																																						ENST00000368147.4																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1621-1623)aaA>aaG		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							207.0	191.0	196.0					1																	158639553		1887	4104	5991	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639553T>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1623A>G	1.37:g.158639553T>C			Somatic					p.K541K	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			13	1803	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1623A>G	CCDS41423.1																																																																																				0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		103	170	103	170	---	---	---	---
PDIA6	10130	broad.mit.edu	37	2	10929048	10929048	+	Silent	SNP	A	A	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:10929048A>T	ENST00000272227.3	-	9	1047	c.900T>A	c.(898-900)gcT>gcA	p.A300A	PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000540494.1_Silent_p.A297A|PDIA6_ENST00000404371.2_Silent_p.A352A|PDIA6_ENST00000404824.2_Silent_p.A348A	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGGGCAGCACAGCCACAACAC	0.463																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1054-1056)gcT>gcA		protein disulfide isomerase family A, member 6							148.0	140.0	143.0					2																	10929048		2203	4300	6503	SO:0001819	synonymous_variant	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10929048A>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.900T>A	2.37:g.10929048A>T			Somatic				PDIA6_ENST00000272227.3_Silent_p.A300A|PDIA6_ENST00000381611.4_Silent_p.A305A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000540494.1_Silent_p.A297A	p.A352A	NM_001282704.1	NP_001269633.1	WXS	Illumina GAIIx	Phase_I	Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	11	1393	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		300					B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	c.1056T>A	CCDS1675.1																																																																																				0.463	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		50	81	50	81	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(805-807)gAc>gGc		CD207 molecule, langerin							127.0	137.0	134.0					2																	71058862		2051	4192	6243	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058862T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.806A>G	2.37:g.71058862T>C	ENSP00000386378:p.Asp269Gly		Somatic					p.D269G	NM_015717.3	NP_056532	WXS	Illumina GAIIx	Phase_I	Q9UJ71	CLC4K_HUMAN			5	851	-			269			C-type lectin.			Missense_Mutation	SNP	ENST00000410009.3	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	T	0.278	-0.988373	0.02162	.	.	ENSG00000116031	ENST00000410009	T	0.07021	3.23	4.78	-0.708	0.11241	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.204330	0.06002	N	0.648005	T	0.01835	0.0058	N	0.00300	-1.685	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43621	-0.9380	10	0.02654	T	1	.	7.4699	0.27342	0.0:0.5137:0.0:0.4862	.	269	Q9UJ71	CLC4K_HUMAN	G	269	ENSP00000386378:D269G	ENSP00000386378:D269G	D	-	2	0	CD207	70912370	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.242000	0.18087	0.008000	0.14787	0.523000	0.50628	GAC		0.572	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		33	30	33	30	---	---	---	---
DGUOK	1716	broad.mit.edu	37	2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	rs140307681		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:74166089G>T	ENST00000264093.4	+	2	280	c.195G>T	c.(193-195)tgG>tgT	p.W65C	DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	65					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	ACCCAGAATGGCACGTAGCTA	0.473																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8	GRCh37	CM080194	DGUOK	M	rs140307681	c.(193-195)tgG>tgT		deoxyguanosine kinase							143.0	128.0	133.0					2																	74166089		2203	4300	6503	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74166089G>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.195G>T	2.37:g.74166089G>T	ENSP00000264093:p.Trp65Cys		Somatic				DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C	p.W65C	NM_080916.2	NP_550438.1	WXS	Illumina GAIIx	Phase_I	Q16854	DGUOK_HUMAN			2	280	+			65					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.195G>T	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046798	0.75846	.	.	ENSG00000114956	ENST00000264093;ENST00000348222	D;D	0.94330	-3.4;-3.4	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97388	0.9987	10	0.72032	D	0.01	-9.5802	17.6052	0.88036	0.0:0.0:1.0:0.0	.	65;65	E5KSL6;Q16854	.;DGUOK_HUMAN	C	65	ENSP00000264093:W65C;ENSP00000306964:W65C	ENSP00000264093:W65C	W	+	3	0	DGUOK	74019597	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.382000	0.73167	2.462000	0.83206	0.555000	0.69702	TGG		0.473	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			4	62	4	62	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100055181	100055181	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	365					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATTCACACTTCCACATTG	0.383								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1093-1095)aaG>aaA	Direct reversal of damage	REV1, polymerase (DNA directed)							104.0	108.0	107.0					2																	100055181		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055181C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1095G>A	2.37:g.100055181C>T			Somatic				REV1_ENST00000393445.3_Silent_p.K365K|REV1_ENST00000465835.1_5'UTR	p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	WXS	Illumina GAIIx	Phase_I	Q9UBZ9	REV1_HUMAN			6	1323	-			365					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.1095G>A	CCDS2045.1																																																																																				0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		18	137	18	137	---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:238726721G>T	ENST00000409864.1	+	3	1416	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.D388Y			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	387						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTTTTGATGATTCGATAAT	0.403																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1162-1164)Gat>Tat		RNA binding motif protein 44							48.0	49.0	49.0					2																	238726721		1866	4120	5986	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726721G>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1162G>T	2.37:g.238726721G>T	ENSP00000386727:p.Asp388Tyr		Somatic				RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y|RBM44_ENST00000444524.2_Intron	p.D388Y	NM_001080504.2	NP_001073973.2	WXS	Illumina GAIIx	Phase_I	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1294	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	387					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1162G>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703457	0.48412	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.21543	2.0;2.0	5.76	4.89	0.63831	.	0.553653	0.18502	N	0.139330	T	0.39145	0.1067	M	0.69823	2.125	0.25778	N	0.984768	D	0.71674	0.998	P	0.60173	0.87	T	0.29549	-1.0008	10	0.87932	D	0	-12.2542	9.0364	0.36291	0.167:0.0:0.833:0.0	.	387	Q6ZP01	RBM44_HUMAN	Y	388	ENSP00000321179:D388Y;ENSP00000386727:D388Y	ENSP00000321179:D388Y	D	+	1	0	RBM44	238391460	1.000000	0.71417	0.421000	0.26609	0.797000	0.45037	3.740000	0.55082	1.455000	0.47813	0.591000	0.81541	GAT		0.403	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		15	49	15	49	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:89457246C>A	ENST00000336596.2	+	9	1952	c.1727C>A	c.(1726-1728)gCa>gAa	p.A576E	EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	576					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACATGGGGCAGATGAAAAA	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1726-1728)gCa>gAa		EPH receptor A3							224.0	219.0	220.0					3																	89457246		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89457246C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1727C>A	3.37:g.89457246C>A	ENSP00000337451:p.Ala576Glu	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	p.A576E	NM_005233.5	NP_005224.2	WXS	Illumina GAIIx	Phase_I	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	1952	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	576					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1727C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.036947	0.19669	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.09723	2.95;2.95	5.97	5.09	0.68999	.	0.382752	0.32041	N	0.006673	T	0.07638	0.0192	N	0.20685	0.6	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.32587	-0.9901	9	.	.	.	.	12.46	0.55727	0.0:0.8641:0.0:0.1359	.	576	P29320	EPHA3_HUMAN	E	576	ENSP00000337451:A576E;ENSP00000419190:A576E	.	A	+	2	0	EPHA3	89539936	0.658000	0.27402	0.055000	0.19348	0.957000	0.61999	4.488000	0.60300	1.509000	0.48786	0.585000	0.79938	GCA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		21	131	21	131	---	---	---	---
UBE2D3	7323	broad.mit.edu	37	4	103720584	103720584	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000338145.3_Silent_p.I126I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	126					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTGTTTTATAGATCCGTGCAA	0.358																																						ENST00000453744.2																			0				kidney(1)|lung(3)|skin(1)	5						c.(376-378)atC>atA		ubiquitin-conjugating enzyme E2D 3							61.0	62.0	61.0					4																	103720584		2203	4299	6502	SO:0001819	synonymous_variant	7323				apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr4:103720584G>T	U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.378C>A	4.37:g.103720584G>T			Somatic				UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000350435.7_Silent_p.I120I	p.I126I	NM_181891.1	NP_871620.1	WXS	Illumina GAIIx	Phase_I	P61077	UB2D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)	7	891	-		Hepatocellular(203;0.217)	126					A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Silent	SNP	ENST00000453744.2	37	c.378C>A	CCDS3660.1																																																																																				0.358	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893		9	37	9	37	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:104030222C>A	ENST00000265148.3	-	48	7838	c.7749G>T	c.(7747-7749)gaG>gaT	p.E2583D	CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2583	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTTTGACCTCATTGGAAA	0.353																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7747-7749)gaG>gaT		centromere protein E, 312kDa							77.0	76.0	77.0					4																	104030222		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030222C>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7749G>T	4.37:g.104030222C>A	ENSP00000265148:p.Glu2583Asp		Somatic				CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	p.E2583D	NM_001813.2	NP_001804.2	WXS	Illumina GAIIx	Phase_I	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	7838	-			2583			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7749G>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557457	0.65425	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.71461	-0.57;-0.55	4.95	1.78	0.24846	.	.	.	.	.	T	0.77025	0.4070	L	0.56769	1.78	0.25008	N	0.991422	D;D	0.76494	0.999;0.996	D;P	0.80764	0.994;0.836	T	0.62402	-0.6862	9	0.51188	T	0.08	.	5.2179	0.15352	0.0:0.5687:0.0:0.4313	.	2462;2583	Q02224-3;Q02224	.;CENPE_HUMAN	D	2583;2462	ENSP00000265148:E2583D;ENSP00000369365:E2462D	ENSP00000265148:E2583D	E	-	3	2	CENPE	104249671	0.108000	0.22018	0.518000	0.27811	0.994000	0.84299	-0.136000	0.10405	0.507000	0.28148	0.655000	0.94253	GAG		0.353	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	65	4	65	---	---	---	---
OFCC1	266553	broad.mit.edu	37	6	9933495	9933495	+	Missense_Mutation	SNP	T	T	A	rs181773704		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:9933495T>A	ENST00000316020.6	-	3	262	c.263A>T	c.(262-264)aAg>aTg	p.K88M	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	20										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCAGCCGACTTGGATTTCTT	0.368																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(262-264)aAg>aTg		orofacial cleft 1 candidate 1							90.0	91.0	91.0					6																	9933495		2203	4300	6503	SO:0001583	missense	266553							g.chr6:9933495T>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.263A>T	6.37:g.9933495T>A	ENSP00000325053:p.Lys88Met		Somatic				OFCC1_ENST00000472329.1_5'UTR	p.K88M			WXS	Illumina GAIIx	Phase_I					3	262	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	ENST00000316020.6	37	c.263A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.56|14.56	2.570516|2.570516	0.45798|0.45798	.|.	.|.	ENSG00000181355|ENSG00000181355	ENST00000460363;ENST00000316020;ENST00000491508|ENST00000492169	T;T|.	0.41400|.	1.0;1.0|.	5.93|5.93	4.76|4.76	0.60689|0.60689	.|.	0.059671|.	0.64402|.	D|.	0.000006|.	T|T	0.48926|0.48926	0.1527|0.1527	.|.	.|.	.|.	0.34496|0.34496	D|D	0.705529|0.705529	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.81914|.	0.995;0.995;0.995;0.983|.	T|T	0.51631|0.51631	-0.8681|-0.8681	8|4	.|.	.|.	.|.	-14.9823|-14.9823	13.062|13.062	0.59012|0.59012	0.0:0.0:0.1389:0.8611|0.0:0.0:0.1389:0.8611	.|.	20;88;20;20|.	B7ZLI9;Q8IZS5-2;Q8IZS5;Q8IZS5-3|.	.;.;OFCC1_HUMAN;.|.	M|H	20;88;88|2	ENSP00000325053:K88M;ENSP00000418251:K88M|.	.|.	K|Q	-|-	2|3	0|2	OFCC1|OFCC1	10041481|10041481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.230000|6.230000	0.72301|0.72301	1.040000|1.040000	0.40099|0.40099	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.368	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		11	53	11	53	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32036414	32036414	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:32036414C>T	ENST00000375244.3	-	17	6174	c.5973G>A	c.(5971-5973)ggG>ggA	p.G1991G	TNXB_ENST00000375247.2_Silent_p.G1991G			P22105	TENX_HUMAN	tenascin XB	2073	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTCAGCTCCCCCAGGCGAG	0.612																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5971-5973)ggG>ggA		tenascin XB							46.0	51.0	50.0					6																	32036414		1972	4143	6115	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036414C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5973G>A	6.37:g.32036414C>T			Somatic				TNXB_ENST00000375247.2_Silent_p.G1991G	p.G1991G			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			17	6174	-			2073			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5973G>A																																																																																					0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	76	7	76	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A	rs371584683		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:132722436G>A	ENST00000367963.3	-	1	248	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	44	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGCTGCCCCGCTGGCTCCAG	0.731																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(130-132)Cgg>Tgg		monooxygenase, DBH-like 1		G	TRP/ARG	1,4085		0,1,2042	11.0	10.0	10.0		130	0.0	0.9	6		10	0,8088		0,0,4044	no	missense	MOXD1	NM_015529.2	101	0,1,6086	AA,AG,GG		0.0,0.0245,0.0082	possibly-damaging	44/614	132722436	1,12173	2043	4044	6087	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132722436G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.130C>T	6.37:g.132722436G>A	ENSP00000356940:p.Arg44Trp		Somatic				MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	p.R44W	NM_015529.2	NP_056344.2	WXS	Illumina GAIIx	Phase_I	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	1	248	-	Breast(56;0.0495)		44			DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.130C>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381973	0.42207	2.45E-4	0.0	ENSG00000079931	ENST00000367963;ENST00000392401	T;T	0.77229	-1.08;-1.08	4.24	0.0084	0.14074	DOMON domain (3);	0.489617	0.19770	N	0.106461	T	0.69637	0.3133	L	0.59436	1.845	0.28108	N	0.931126	D	0.58620	0.983	P	0.53185	0.72	T	0.67031	-0.5773	10	0.87932	D	0	-32.154	11.5367	0.50641	0.0:0.2084:0.5763:0.2153	.	44	Q6UVY6	MOXD1_HUMAN	W	44	ENSP00000356940:R44W;ENSP00000376202:R44W	ENSP00000356940:R44W	R	-	1	2	MOXD1	132764129	0.096000	0.21769	0.949000	0.38748	0.355000	0.29361	1.107000	0.31110	0.045000	0.15804	-3.098000	0.00064	CGG		0.731	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		3	15	3	15	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150545C>T	ENST00000350026.5	+	2	1728	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L|ARID1B_ENST00000346085.5_Missense_Mutation_p.P576L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	576	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATGCAGTACCCTCAGCAGCAG	0.542																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1726-1728)cCt>cTt		AT rich interactive domain 1B (SWI1-like)							39.0	37.0	38.0					6																	157150545		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150545C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1727C>T	6.37:g.157150545C>T	ENSP00000055163:p.Pro576Leu		Somatic				ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L	p.P576L	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1728	+		Breast(66;0.000162)|Ovarian(120;0.0265)	576			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1727C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695411	0.48202	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02552	4.44;4.65;4.6;4.55;4.25	5.09	5.09	0.68999	.	0.087594	0.45867	D	0.000328	T	0.02767	0.0083	N	0.14661	0.345	0.53005	D	0.999969	D;D;D	0.56287	0.958;0.975;0.975	P;P;P	0.53861	0.549;0.736;0.736	T	0.62534	-0.6834	10	0.87932	D	0	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	576;576;518	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	L	576;576;576;518;75	ENSP00000344546:P576L;ENSP00000055163:P576L;ENSP00000356116:P576L;ENSP00000275248:P518L;ENSP00000412835:P75L	ENSP00000275248:P518L	P	+	2	0	ARID1B	157192237	0.999000	0.42202	0.983000	0.44433	0.970000	0.65996	4.280000	0.58959	2.515000	0.84797	0.650000	0.86243	CCT		0.542	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	45	4	45	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150550C>T	ENST00000350026.5	+	2	1733	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q578*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	578	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCCTCAGCAGCAGGTTTG	0.547																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1732-1734)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							36.0	35.0	35.0					6																	157150550		2203	4300	6503	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150550C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1732C>T	6.37:g.157150550C>T	ENSP00000055163:p.Gln578*		Somatic				ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*	p.Q578*	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1733	+		Breast(66;0.000162)|Ovarian(120;0.0265)	578			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.1732C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	9.124844	0.99073	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	.	.	.	X	578;578;578;520;77	.	ENSP00000275248:Q520X	Q	+	1	0	ARID1B	157192242	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.602000	0.67612	2.515000	0.84797	0.650000	0.86243	CAG		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		4	45	4	45	---	---	---	---
FAM126A	84668	broad.mit.edu	37	7	22985646	22985646	+	Silent	SNP	A	A	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	376					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTTTCCTATACTTGGCTTGT	0.423																																						ENST00000432176.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1126-1128)agT>agC		family with sequence similarity 126, member A							128.0	136.0	133.0					7																	22985646		2203	4300	6503	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985646A>G	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1128T>C	7.37:g.22985646A>G			Somatic				FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	p.S376S	NM_032581.3	NP_115970.2	WXS	Illumina GAIIx	Phase_I	Q9BYI3	HYCCI_HUMAN			11	1360	-			376					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1128T>C	CCDS5377.1																																																																																				0.423	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581		67	139	67	139	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:137294314G>T	ENST00000288490.5	-	9	1035	c.1035C>A	c.(1033-1035)agC>agA	p.S345R	DGKI_ENST00000453654.2_Missense_Mutation_p.S45R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	345					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTTTTAAAGCTTGTTCTCT	0.438																																						ENST00000453654.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(133-135)agC>agA		diacylglycerol kinase, iota							163.0	136.0	145.0					7																	137294314		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137294314G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1035C>A	7.37:g.137294314G>T	ENSP00000288490:p.Ser345Arg		Somatic				DGKI_ENST00000288490.5_Missense_Mutation_p.S345R|DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R	p.S45R			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			9	674	-								A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.135C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654422	0.47467	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.38077	1.78;1.16;1.36	5.61	0.913	0.19354	.	0.196432	0.53938	D	0.000051	T	0.52869	0.1761	M	0.76838	2.35	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.46048	-0.9219	10	0.40728	T	0.16	.	6.5356	0.22352	0.448:0.0:0.438:0.1139	.	45;345	E9PFX6;O75912	.;DGKI_HUMAN	R	45;293;345;345;345	ENSP00000392161:S45R;ENSP00000288490:S345R;ENSP00000399131:S345R	ENSP00000288490:S345R	S	-	3	2	DGKI	136944854	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.330000	0.19715	0.115000	0.18071	-0.794000	0.03295	AGC		0.438	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	42	8	42	---	---	---	---
BNIP3L	665	broad.mit.edu	37	8	26239000	26239000	+	5'Flank	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr8:26239000G>C	ENST00000380629.2	+	0	0				BNIP3L_ENST00000523515.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000520409.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CTGCAGTCAGGTTGCTGGGCA	0.488																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	157489							g.chr8:26239000G>C	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26239000G>C	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	948	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.488	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		5	15	5	15	---	---	---	---
OLFM1	10439	broad.mit.edu	37	9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:138011425G>A	ENST00000371793.3	+	6	1110	c.859G>A	c.(859-861)Gac>Aac	p.D287N	OLFM1_ENST00000252854.4_Missense_Mutation_p.D269N|OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	287	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGAACACGGACAATTTCAC	0.547																																						ENST00000252854.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21						c.(805-807)Gac>Aac		olfactomedin 1							133.0	119.0	124.0					9																	138011425		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011425G>A	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.859G>A	9.37:g.138011425G>A	ENSP00000360858:p.Asp287Asn		Somatic				OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	p.D269N	NM_014279.4	NP_055094.1	WXS	Illumina GAIIx	Phase_I	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	992	+		Myeloproliferative disorder(178;0.0333)	287			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.805G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.359909	0.82353	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.07	5.07	0.68467	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	L	0.27053	0.805	0.80722	D	1	D;P	0.76494	0.999;0.891	D;P	0.72338	0.977;0.698	D	0.89371	0.3675	10	0.30078	T	0.28	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	287;269	Q99784;Q6IMJ8	NOE1_HUMAN;.	N	269;260;287;184	ENSP00000252854:D269N;ENSP00000360861:D260N;ENSP00000360858:D287N;ENSP00000443806:D184N	ENSP00000252854:D269N	D	+	1	0	OLFM1	137151246	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GAC		0.547	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		32	60	32	60	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38343826	38343826	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:38343826T>C	ENST00000458705.2	+	5	929	c.771T>C	c.(769-771)gaT>gaC	p.D257D	ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000374618.3_Silent_p.D258D|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTTGTGTGATAGTTCATCCC	0.388																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(772-774)gaT>gaC		zinc finger protein 33A							75.0	70.0	72.0					10																	38343826		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343826T>C	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.771T>C	10.37:g.38343826T>C			Somatic				ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000307441.9_Silent_p.D257D	p.D258D	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	WXS	Illumina GAIIx	Phase_I	Q06730	ZN33A_HUMAN			5	952	+			257					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.774T>C	CCDS31182.1																																																																																				0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		11	64	11	64	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		37	91	37	91	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:55579666G>T	ENST00000333973.2	+	1	813	c.724G>T	c.(724-726)Gct>Tct	p.A242S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCACCTGTGCTTCCCACCT	0.512																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(724-726)Gct>Tct		olfactory receptor, family 5, subfamily L, member 1							181.0	149.0	160.0					11																	55579666		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579666G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.724G>T	11.37:g.55579666G>T	ENSP00000335529:p.Ala242Ser		Somatic					p.A242S	NM_001004738.1	NP_001004738.1	WXS	Illumina GAIIx	Phase_I	Q8NGL2	OR5L1_HUMAN			1	813	+		all_epithelial(135;0.208)	242					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.724G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	14.93	2.681971	0.47991	.	.	ENSG00000186117	ENST00000333973	T	0.38887	1.11	4.12	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.122216	0.37261	N	0.002169	T	0.43942	0.1270	L	0.27944	0.81	0.23727	N	0.997009	D	0.64830	0.994	D	0.68039	0.955	T	0.15954	-1.0419	10	0.37606	T	0.19	-18.2241	7.4069	0.26995	0.2048:0.0:0.7952:0.0	.	242	Q8NGL2	OR5L1_HUMAN	S	242	ENSP00000335529:A242S	ENSP00000335529:A242S	A	+	1	0	OR5L1	55336242	0.000000	0.05858	0.996000	0.52242	0.772000	0.43724	-0.705000	0.05052	0.740000	0.32651	0.428000	0.28381	GCT		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		25	109	25	109	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	161					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGCAGTTCAAATCGGAAA	0.373																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(481-483)Gaa>Caa		sodium leak channel, non-selective							68.0	69.0	69.0					13																	102029302		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029302C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.481G>C	13.37:g.102029302C>G	ENSP00000251127:p.Glu161Gln		Somatic				NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q	p.E161Q	NM_052867.2	NP_443099.1	WXS	Illumina GAIIx	Phase_I	Q8IZF0	NALCN_HUMAN			5	562	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		161					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.481G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630300	0.46944	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98732	-5.1;-5.1;-5.1	4.92	4.92	0.64577	Ion transport (1);	0.051849	0.85682	D	0.000000	D	0.94115	0.8113	N	0.01874	-0.695	0.80722	D	1	B;B	0.20887	0.049;0.049	B;B	0.26416	0.069;0.042	D	0.91054	0.4880	10	0.24483	T	0.36	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	161;161	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	161	ENSP00000251127:E161Q;ENSP00000365367:E161Q;ENSP00000365373:E161Q	ENSP00000251127:E161Q	E	-	1	0	NALCN	100827303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	GAA		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		11	60	11	60	---	---	---	---
SNW1	22938	broad.mit.edu	37	14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	121					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTCCTTTGGAACCAGGTCA	0.383																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(361-363)Cca>Tca		SNW domain containing 1							244.0	255.0	251.0					14																	78205374		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205374G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.361C>T	14.37:g.78205374G>A	ENSP00000261531:p.Pro121Ser		Somatic				SNW1_ENST00000555761.1_Missense_Mutation_p.P121S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Intron	p.P121S	NM_012245.2	NP_036377.1	WXS	Illumina GAIIx	Phase_I	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	4	423	-			121					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.361C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689194	0.88735	.	.	ENSG00000100603	ENST00000261531;ENST00000555761;ENST00000416259;ENST00000554324	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.85777	2.775	0.80722	D	1	P;B	0.35033	0.481;0.02	P;B	0.45856	0.495;0.007	T	0.81064	-0.1102	9	0.66056	D	0.02	.	19.6779	0.95945	0.0:0.0:1.0:0.0	.	121;121	G3V3A4;Q13573	.;SNW1_HUMAN	S	121	.	ENSP00000261531:P121S	P	-	1	0	SNW1	77275127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.656000	0.90262	0.460000	0.39030	CCA		0.383	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		30	346	30	346	---	---	---	---
DLL4	54567	broad.mit.edu	37	15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:41229089A>C	ENST00000249749.5	+	9	2180	c.1904A>C	c.(1903-1905)gAc>gCc	p.D635A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	635					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCCACAGTGACAAGAGCTTA	0.602																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1903-1905)gAc>gCc		delta-like 4 (Drosophila)							20.0	22.0	21.0					15																	41229089		1919	4112	6031	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41229089A>C	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1904A>C	15.37:g.41229089A>C	ENSP00000249749:p.Asp635Ala		Somatic					p.D635A	NM_019074.3	NP_061947.1	WXS	Illumina GAIIx	Phase_I	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	9	2180	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	635					Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1904A>C	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.508371	0.64410	.	.	ENSG00000128917	ENST00000249749	D	0.88586	-2.4	5.47	5.47	0.80525	.	0.345459	0.37393	N	0.002112	T	0.81740	0.4886	N	0.16790	0.44	0.58432	D	0.999991	P	0.46395	0.877	B	0.40636	0.335	D	0.83797	0.0234	10	0.45353	T	0.12	.	15.7063	0.77583	1.0:0.0:0.0:0.0	.	635	Q9NR61	DLL4_HUMAN	A	635	ENSP00000249749:D635A	ENSP00000249749:D635A	D	+	2	0	DLL4	39016381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.293000	0.77203	0.528000	0.53228	GAC		0.602	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			17	7	17	7	---	---	---	---
FAM227B	196951	broad.mit.edu	37	15	49800527	49800527	+	Missense_Mutation	SNP	C	C	A	rs185086177	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:49800527C>A	ENST00000299338.6	-	11	1196	c.893G>T	c.(892-894)gGc>gTc	p.G298V	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	298																	GATCCAAAAGCCTTTTTGAGG	0.313													C|||	3	0.000599042	0.0	0.0029	5008	,	,		14354	0.0		0.001	False		,,,				2504	0.0					ENST00000299338.6																			0											c.(892-894)gGc>gTc		family with sequence similarity 227, member B							106.0	106.0	106.0					15																	49800527		2196	4295	6491	SO:0001583	missense	196951							g.chr15:49800527C>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.893G>T	15.37:g.49800527C>A	ENSP00000299338:p.Gly298Val		Somatic				FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	p.G298V	NM_152647.2	NP_689860.2	WXS	Illumina GAIIx	Phase_I					11	1196	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.893G>T	CCDS32237.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.74	2.029336	0.35797	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.01	1.05	0.20165	.	0.567736	0.15839	N	0.242132	T	0.48484	0.1502	M	0.65975	2.015	0.24652	N	0.993513	D;D	0.61080	0.989;0.974	P;P	0.55391	0.775;0.731	T	0.33343	-0.9872	9	0.40728	T	0.16	-19.6793	5.9562	0.19275	0.0:0.6564:0.0:0.3436	.	264;298	Q96M60-2;Q96M60	.;CO033_HUMAN	V	298;264	.	ENSP00000299338:G298V	G	-	2	0	C15orf33	47587819	0.053000	0.20554	0.815000	0.32552	0.971000	0.66376	1.198000	0.32223	0.118000	0.18165	0.557000	0.71058	GGC		0.313	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		24	35	24	35	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:1556317C>T	ENST00000262319.6	+	17	2392	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	705					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCCCTCCTTCAGCGCTTTGA	0.637																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2113-2115)Cag>Tag		telomere maintenance 2							86.0	90.0	89.0					16																	1556317		2199	4300	6499	SO:0001587	stop_gained	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1556317C>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2113C>T	16.37:g.1556317C>T	ENSP00000262319:p.Gln705*		Somatic				TELO2_ENST00000564507.1_3'UTR	p.Q705*	NM_016111.3	NP_057195.2	WXS	Illumina GAIIx	Phase_I	Q9Y4R8	TELO2_HUMAN			17	2392	+		Hepatocellular(780;0.219)	705					D3DU73|O75168|Q7LDV4|Q9BR21	Nonsense_Mutation	SNP	ENST00000262319.6	37	c.2113C>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374649	0.95923	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	.	.	.	4.32	2.25	0.28309	.	0.164454	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-11.9493	8.4149	0.32666	0.0:0.755:0.1549:0.0901	.	.	.	.	X	228;705	.	ENSP00000262319:Q705X	Q	+	1	0	TELO2	1496318	0.026000	0.19158	0.201000	0.23476	0.128000	0.20619	1.657000	0.37366	0.815000	0.34398	0.462000	0.41574	CAG		0.637	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		10	82	10	82	---	---	---	---
PAQR4	124222	broad.mit.edu	37	16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000574988.1_5'Flank|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	45						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCTCTTCTACCTGCACAACGA	0.697																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(133-135)Ctg>Gtg		progestin and adipoQ receptor family member IV							15.0	17.0	16.0					16																	3019808		2182	4283	6465	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3019808C>G		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.133C>G	16.37:g.3019808C>G	ENSP00000321804:p.Leu45Val		Somatic				PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V|PKMYT1_ENST00000571102.1_Intron	p.L45V	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	WXS	Illumina GAIIx	Phase_I	Q8N4S7	PAQR4_HUMAN			1	563	+			45					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.133C>G	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776761	0.49786	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.34472	1.52;1.36	4.61	2.46	0.29980	.	0.250386	0.33457	N	0.004899	T	0.31670	0.0804	L	0.46885	1.475	0.80722	D	1	P;B;B	0.35033	0.481;0.004;0.007	B;B;B	0.38842	0.283;0.006;0.017	T	0.06092	-1.0846	10	0.29301	T	0.29	-5.169	10.5849	0.45278	0.3643:0.6357:0.0:0.0	.	45;45;45	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	V	45	ENSP00000321804:L45V;ENSP00000293978:L45V	ENSP00000293978:L45V	L	+	1	2	PAQR4	2959809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.923000	0.56469	0.893000	0.36288	0.462000	0.41574	CTG		0.697	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		3	38	3	38	---	---	---	---
PAQR4	124222	broad.mit.edu	37	16	3021853	3021853	+	Silent	SNP	C	C	T	rs570979634		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3021853C>T	ENST00000318782.8	+	3	1156	c.726C>T	c.(724-726)atC>atT	p.I242I	PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000574988.1_Silent_p.I175I|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Silent_p.I203I|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Silent_p.I168I	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	242						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCCACCAGATCATGCACCTGC	0.677																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(724-726)atC>atT		progestin and adipoQ receptor family member IV							40.0	43.0	42.0					16																	3021853		2197	4300	6497	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021853C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.726C>T	16.37:g.3021853C>T			Somatic				PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000572687.1_Silent_p.I168I|PAQR4_ENST00000574988.1_Silent_p.I175I	p.I242I	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	WXS	Illumina GAIIx	Phase_I	Q8N4S7	PAQR4_HUMAN			3	1156	+			242					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.726C>T	CCDS10485.1																																																																																				0.677	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		7	39	7	39	---	---	---	---
COQ7	10229	broad.mit.edu	37	16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:19089458T>C	ENST00000321998.5	+	6	698	c.632T>C	c.(631-633)aTa>aCa	p.I211T	COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	211	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAGTGGCGATATATTTATCA	0.388																																						ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(631-633)aTa>aCa		coenzyme Q7 homolog, ubiquinone (yeast)							113.0	104.0	107.0					16																	19089458		2197	4300	6497	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19089458T>C	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.632T>C	16.37:g.19089458T>C	ENSP00000322316:p.Ile211Thr		Somatic				COQ7_ENST00000569127.1_Missense_Mutation_p.I188T|COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000544894.2_Missense_Mutation_p.I173T	p.I211T	NM_016138.4	NP_057222.2	WXS	Illumina GAIIx	Phase_I	Q99807	COQ7_HUMAN			6	698	+			211			2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.632T>C	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981235	0.53827	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.60424	0.19;0.19	5.33	5.33	0.75918	.	0.039673	0.85682	D	0.000000	D	0.82328	0.5013	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.987;0.992	D	0.85360	0.1107	10	0.29301	T	0.29	-13.7839	14.9797	0.71303	0.0:0.0:0.0:1.0	.	188;211	Q49A71;Q99807	.;COQ7_HUMAN	T	211;173	ENSP00000322316:I211T;ENSP00000442923:I173T	ENSP00000322316:I211T	I	+	2	0	COQ7	18996959	1.000000	0.71417	0.435000	0.26784	0.223000	0.24884	6.321000	0.72881	2.008000	0.58898	0.482000	0.46254	ATA		0.388	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		8	47	8	47	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23080883G>A	ENST00000219689.7	-	16	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	USP31_ENST00000567975.1_Missense_Mutation_p.S141F	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGATCTGGATGACAAACT	0.468																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2542-2544)tCc>tTc		ubiquitin specific peptidase 31							44.0	39.0	40.0					16																	23080883		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080883G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2543C>T	16.37:g.23080883G>A	ENSP00000219689:p.Ser848Phe		Somatic				USP31_ENST00000567975.1_Missense_Mutation_p.S141F	p.S848F	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2542	-			848			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2543C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140117	0.56936	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10099	2.91	6.16	5.19	0.71726	.	0.155509	0.44902	D	0.000417	T	0.29355	0.0731	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.998	P;D;D	0.66351	0.884;0.943;0.917	T	0.01375	-1.1371	10	0.39692	T	0.17	-11.6848	16.5774	0.84705	0.0:0.1302:0.8698:0.0	.	151;848;141	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	F	848;151	ENSP00000219689:S848F	ENSP00000219689:S848F	S	-	2	0	USP31	22988384	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.607000	0.82883	1.574000	0.49760	0.650000	0.86243	TCC		0.468	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		9	49	9	49	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23364121	23364121	+	Splice_Site	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCCATCCAGGTATTCCAAA	0.502																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e3-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						78.0	77.0	78.0					16																	23364121		2197	4300	6497	SO:0001630	splice_region_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23364121G>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.312-1G>T	16.37:g.23364121G>T			Somatic				SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site|SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site		NM_000336.2	NP_000327.2	WXS	Illumina GAIIx	Phase_I	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	3	487	+								C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37		CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381879	0.61845	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9864	0.86340	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCNN1B	23271622	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.199000	0.72112	2.220000	0.72140	0.462000	0.41574	.		0.502	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Intron	8	104	8	104	---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42455141	42455141	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:42455141G>T	ENST00000262407.5	-	21	2143	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	ITGA2B_ENST00000353281.4_Silent_p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	704					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TCTGATTACAGATGAGTCTCT	0.478																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2110-2112)atC>atA		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						79.0	70.0	73.0					17																	42455141		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455141G>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2112C>A	17.37:g.42455141G>T			Somatic				ITGA2B_ENST00000353281.4_Silent_p.I704I	p.I704I	NM_000419.3	NP_000410.2	WXS	Illumina GAIIx	Phase_I	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	21	2143	-		Prostate(33;0.0181)	704					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.2112C>A	CCDS32665.1																																																																																				0.478	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			7	52	7	52	---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	236					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTACTGTGATCACACCAT	0.478																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(706-708)atC>atG		Meckel syndrome, type 1							169.0	164.0	166.0					17																	56291167		1975	4165	6140	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56291167G>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.708C>G	17.37:g.56291167G>C	ENSP00000376827:p.Ile236Met		Somatic				MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M|MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M	p.I236M	NM_017777.3	NP_060247.2	WXS	Illumina GAIIx	Phase_I	Q9NXB0	MKS1_HUMAN			7	782	-			236					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.708C>G	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.80|19.80	3.895248|3.895248	0.72639|0.72639	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.76060|.	-0.57;-0.57;-0.33;-0.99|.	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	0.196469|.	0.53938|.	D|.	0.000055|.	T|.	0.73133|.	0.3548|.	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999992|0.999992	D;P|.	0.53312|.	0.959;0.668|.	P;B|.	0.49887|.	0.625;0.323|.	T|.	0.68454|.	-0.5404|.	10|.	0.51188|.	T|.	0.08|.	-13.256|-13.256	19.0799|19.0799	0.93178|0.93178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236;236|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	M|X	226;236;236;236;33|237	ENSP00000442096:I226M;ENSP00000376827:I236M;ENSP00000338407:I236M;ENSP00000443012:I33M|.	ENSP00000338407:I236M|.	I|S	-|-	3|2	3|0	MKS1|MKS1	53646166|53646166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.832000|2.832000	0.48152|0.48152	2.852000|2.852000	0.98041|0.98041	0.643000|0.643000	0.83706|0.83706	ATC|TCA		0.478	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		28	37	28	37	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:64683317T>A	ENST00000413366.3	+	6	644	c.618T>A	c.(616-618)aaT>aaA	p.N206K		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	206	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ATCCCAAGAATGAAAGCAAGC	0.408																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(616-618)aaT>aaA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						159.0	162.0	161.0					17																	64683317		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64683317T>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.618T>A	17.37:g.64683317T>A	ENSP00000408695:p.Asn206Lys		Somatic					p.N206K	NM_002737.2	NP_002728	WXS	Illumina GAIIx	Phase_I	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		6	644	+			206			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.618T>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786350	0.31593	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.40225	1.04	4.98	-0.0522	0.13823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.15825	0.0381	N	0.02345	-0.59	0.53688	D	0.999972	B;B	0.18863	0.001;0.031	B;B	0.21708	0.006;0.036	T	0.09662	-1.0664	10	0.19590	T	0.45	.	9.4334	0.38624	0.0:0.3899:0.0:0.6101	.	206;117	P17252;Q59FI5	KPCA_HUMAN;.	K	206;113	ENSP00000408695:N206K	ENSP00000284384:N113K	N	+	3	2	PRKCA	62113779	0.284000	0.24287	0.995000	0.50966	0.899000	0.52679	-0.380000	0.07427	-0.352000	0.08237	-0.736000	0.03550	AAT		0.408	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			62	124	62	124	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L|ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	309					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACTTACAGATGATAATCCATA	0.323																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(925-927)tCa>tTa		ATP-binding cassette, sub-family A (ABC1), member 5							33.0	32.0	32.0					17																	67300814		2202	4296	6498	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300814G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.926C>T	17.37:g.67300814G>A	ENSP00000376443:p.Ser309Leu		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L	p.S309L			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			7	990	-	Breast(10;3.72e-11)		309					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.926C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051192	0.93740	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88741	-2.42;-2.42	5.13	5.13	0.70059	.	0.238434	0.29775	N	0.011224	D	0.95284	0.8470	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95562	0.8630	9	.	.	.	.	18.6555	0.91452	0.0:0.0:1.0:0.0	.	309;309	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	L	309	ENSP00000376444:S309L;ENSP00000376443:S309L	.	S	-	2	0	ABCA5	64812409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.884000	0.75600	2.381000	0.81170	0.558000	0.71614	TCA		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		5	34	5	34	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67300891	67300891	+	Silent	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000392677.2_Silent_p.V283V|ABCA5_ENST00000588877.1_Silent_p.V283V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	283					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTGTCGCAATGACTGCCATAA	0.323																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(847-849)gtC>gtG		ATP-binding cassette, sub-family A (ABC1), member 5							72.0	73.0	73.0					17																	67300891		2203	4294	6497	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67300891G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.849C>G	17.37:g.67300891G>C			Somatic				ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V	p.V283V			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			7	913	-	Breast(10;3.72e-11)		283					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.849C>G	CCDS11685.1																																																																																				0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		13	73	13	73	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCATCAGGTAGATGATCAGTA	0.313																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(298-300)Cta>Gta		ATP-binding cassette, sub-family A (ABC1), member 5							80.0	81.0	81.0					17																	67309242		2203	4294	6497	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309242G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.298C>G	17.37:g.67309242G>C	ENSP00000376443:p.Leu100Val		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V	p.L100V			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			3	362	-	Breast(10;3.72e-11)		100					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.298C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	5.170	0.216893	0.09810	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87412	-2.25;-2.25	5.0	4.03	0.46877	.	0.108732	0.41396	D	0.000900	T	0.79493	0.4455	L	0.38531	1.155	0.26377	N	0.976796	B;P	0.35684	0.43;0.515	B;B	0.37387	0.112;0.248	T	0.68614	-0.5362	9	.	.	.	.	6.9099	0.24329	0.1196:0.0:0.7155:0.1649	.	100;100	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	100	ENSP00000376444:L100V;ENSP00000376443:L100V	.	L	-	1	2	ABCA5	64820837	1.000000	0.71417	0.367000	0.25926	0.402000	0.30811	3.831000	0.55776	1.096000	0.41439	0.585000	0.79938	CTA		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		8	69	8	69	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	79					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GTATATCCAAGAATTAGATTA	0.318																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(235-237)Ctt>Gtt		ATP-binding cassette, sub-family A (ABC1), member 5							86.0	91.0	89.0					17																	67309305		2203	4291	6494	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309305G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.235C>G	17.37:g.67309305G>C	ENSP00000376443:p.Leu79Val		Somatic				ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V	p.L79V			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			3	299	-	Breast(10;3.72e-11)		79					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.235C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	1.970	-0.436801	0.04636	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.44482	0.92;0.92	5.0	2.76	0.32466	.	0.245479	0.29342	N	0.012433	T	0.22003	0.0530	N	0.12637	0.245	0.20926	N	0.999829	B;B	0.14438	0.002;0.01	B;B	0.21708	0.015;0.036	T	0.17653	-1.0362	9	.	.	.	.	8.3682	0.32399	0.0:0.1618:0.4888:0.3493	.	79;79	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	79	ENSP00000376444:L79V;ENSP00000376443:L79V	.	L	-	1	0	ABCA5	64820900	0.987000	0.35691	0.834000	0.33040	0.791000	0.44710	1.858000	0.39408	1.096000	0.41439	0.585000	0.79938	CTT		0.318	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	66	7	66	---	---	---	---
RAB37	326624	broad.mit.edu	37	17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:72741156G>A	ENST00000392613.5	+	8	555	c.499G>A	c.(499-501)Gtt>Att	p.V167I	RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000340415.3_Missense_Mutation_p.V160I|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	167					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGTACGGTGTTCCCTTCCT	0.617											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(478-480)Gtt>Att		RAB37, member RAS oncogene family							88.0	78.0	82.0					17																	72741156		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741156G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.499G>A	17.37:g.72741156G>A	ENSP00000376389:p.Val167Ile		Somatic	OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392610.1_Missense_Mutation_p.V167I	p.V160I	NM_175738.4	NP_783865.1	WXS	Illumina GAIIx	Phase_I	Q96AX2	RAB37_HUMAN			8	1487	+			167					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.478G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819952	0.16678	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.064069	0.64402	D	0.000010	T	0.68559	0.3014	N	0.17872	0.535	0.54753	D	0.999981	B;B;B;B;B;B	0.33919	0.187;0.432;0.156;0.128;0.038;0.08	B;B;B;B;B;B	0.42625	0.21;0.393;0.1;0.075;0.079;0.074	T	0.63492	-0.6625	10	0.02654	T	1	.	17.9083	0.88926	0.0:0.0:1.0:0.0	.	130;135;172;160;167;160	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	I	160;160;160;140;135;172;167;130;167	ENSP00000341354:V160I;ENSP00000383934:V160I;ENSP00000432086:V140I;ENSP00000376391:V135I;ENSP00000376390:V172I;ENSP00000376389:V167I;ENSP00000376388:V130I;ENSP00000376387:V167I	ENSP00000341354:V160I	V	+	1	0	RAB37	70252751	1.000000	0.71417	0.948000	0.38648	0.771000	0.43674	6.093000	0.71422	2.598000	0.87819	0.549000	0.68633	GTT		0.617	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		7	65	7	65	---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:15586948G>T	ENST00000340880.4	-	2	1013	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P178Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	178					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGACATCTGGAGAGCCATC	0.542																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(532-534)cCa>cAa		peptidoglycan recognition protein 2							127.0	114.0	118.0					19																	15586948		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586948G>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.533C>A	19.37:g.15586948G>T	ENSP00000345968:p.Pro178Gln		Somatic				PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q	p.P178Q			WXS	Illumina GAIIx	Phase_I	Q96PD5	PGRP2_HUMAN			2	662	-			178					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.533C>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	13.73	2.322973	0.41096	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.06294	3.33;3.32	4.11	1.83	0.25207	.	0.165536	0.28354	N	0.015645	T	0.14013	0.0339	M	0.62723	1.935	0.09310	N	1	D;D	0.63880	0.993;0.966	P;P	0.60682	0.878;0.641	T	0.03344	-1.1046	10	0.66056	D	0.02	.	5.1013	0.14760	0.1128:0.0:0.6852:0.2021	.	178;178	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	178	ENSP00000345968:P178Q;ENSP00000292609:P178Q	ENSP00000292609:P178Q	P	-	2	0	PGLYRP2	15447948	0.000000	0.05858	0.019000	0.16419	0.024000	0.10985	0.102000	0.15272	0.730000	0.32425	-0.251000	0.11542	CCA		0.542	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		7	127	7	127	---	---	---	---
FUT2	2524	broad.mit.edu	37	19	49207194	49207194	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49207194G>T	ENST00000425340.2	+	2	1098	c.981G>T	c.(979-981)ctG>ctT	p.L327L	FUT2_ENST00000391876.4_Silent_p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	327					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CAGCCTTCCTGCCGGAGTGGA	0.567																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(979-981)ctG>ctT		fucosyltransferase 2 (secretor status included)							64.0	61.0	62.0					19																	49207194		2203	4300	6503	SO:0001819	synonymous_variant	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207194G>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.981G>T	19.37:g.49207194G>T			Somatic				FUT2_ENST00000391876.4_Silent_p.L327L	p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	WXS	Illumina GAIIx	Phase_I	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	1098	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	327					Q0VAG5|Q14338|Q5D0G2	Silent	SNP	ENST00000425340.2	37	c.981G>T	CCDS33069.1																																																																																				0.567	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		18	97	18	97	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49633700	49633700	+	Silent	SNP	C	C	T	rs142815673	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49633700C>T	ENST00000334186.4	+	7	1072	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIA3_ENST00000602351.1_Silent_p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	241					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAGGAGGCCCTGGAGCGGC	0.687													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15678	0.0		0.0	False		,,,				2504	0.0					ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(721-723)gcC>gcT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3		C		17,4343		0,17,2163	12.0	14.0	13.0		723	-1.0	1.0	19	dbSNP_134	13	0,8562		0,0,4281	no	coding-synonymous	PPFIA3	NM_003660.2		0,17,6444	TT,TC,CC		0.0,0.3899,0.1316		241/1195	49633700	17,12905	2180	4281	6461	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49633700C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.723C>T	19.37:g.49633700C>T			Somatic				PPFIA3_ENST00000602351.1_Silent_p.A241A	p.A241A	NM_003660.2	NP_003651.1	WXS	Illumina GAIIx	Phase_I	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	7	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	241					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.723C>T	CCDS12758.1																																																																																				0.687	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	11	4	11	---	---	---	---
TRMT6	51605	broad.mit.edu	37	20	5931051	5931051	+	Start_Codon_SNP	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr20:5931051T>A	ENST00000203001.2	-	1	131	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	MCM8_ENST00000378896.3_5'Flank|TRMT6_ENST00000473131.1_5'UTR|MCM8_ENST00000378883.1_5'Flank|MCM8_ENST00000265187.4_5'Flank|MCM8_ENST00000378886.2_5'Flank|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	1					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GAGCCCTCCATGACGCTCAGC	0.677																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(1-3)Atg>Ttg		tRNA methyltransferase 6 homolog (S. cerevisiae)							43.0	40.0	41.0					20																	5931051		2203	4299	6502	SO:0001582	initiator_codon_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5931051T>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1A>T	20.37:g.5931051T>A	ENSP00000203001:p.Met1Leu		Somatic				TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.M1L	NM_015939.3	NP_057023.2	WXS	Illumina GAIIx	Phase_I	Q9UJA5	TRM6_HUMAN			1	131	-			1					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Translation_Start_Site	SNP	ENST00000203001.2	37	c.1A>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867362	0.32977	.	.	ENSG00000089195	ENST00000203001	T	0.19105	2.17	5.28	5.28	0.74379	.	0.272569	0.44902	D	0.000411	T	0.16385	0.0394	.	.	.	0.80722	D	1	B	0.18863	0.031	B	0.16722	0.016	T	0.09997	-1.0649	9	0.87932	D	0	-15.5843	5.4009	0.16295	0.0:0.2034:0.0:0.7966	.	1	Q9UJA5	TRM6_HUMAN	L	1	ENSP00000203001:M1L	ENSP00000203001:M1L	M	-	1	0	TRMT6	5879051	0.995000	0.38212	0.994000	0.49952	0.113000	0.19764	1.398000	0.34554	2.343000	0.79666	0.496000	0.49642	ATG		0.677	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2		Missense_Mutation	8	33	8	33	---	---	---	---
