#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
PRKAA2	5563	broad.mit.edu	37	1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:57173364T>A	ENST00000371244.4	+	9	1703	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	546					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.L546Q(3)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGTGCCAGTCTGATTACTACT	0.388																																						ENST00000371244.4																			3	Substitution - Missense(3)	p.L546Q(3)	prostate(3)	breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1636-1638)cTg>cAg		protein kinase, AMP-activated, alpha 2 catalytic subunit							117.0	110.0	112.0					1																	57173364		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57173364T>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1637T>A	1.37:g.57173364T>A	ENSP00000360290:p.Leu546Gln		Somatic					p.L546Q	NM_006252.3	NP_006243.2	WXS	Illumina GAIIx	Phase_I	P54646	AAPK2_HUMAN			9	1703	+			546					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1637T>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776978	0.90195	.	.	ENSG00000162409	ENST00000371244	T	0.79845	-1.31	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	D	0.88537	0.6463	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89438	0.3721	10	0.87932	D	0	-13.8105	16.4943	0.84223	0.0:0.0:0.0:1.0	.	546	P54646	AAPK2_HUMAN	Q	546	ENSP00000360290:L546Q	ENSP00000360290:L546Q	L	+	2	0	PRKAA2	56945952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	CTG		0.388	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		4	142	4	142	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:158637764T>C	ENST00000368147.4	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	641					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)	p.Q641R(1)		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)					GCCAGTTTTCTGTATGTTTTC	0.468																																						ENST00000368147.4																			1	Substitution - Missense(1)	p.Q641R(1)	prostate(1)	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.(1921-1923)cAg>cGg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							172.0	166.0	168.0					1																	158637764		1863	4099	5962	SO:0001583	missense	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.chr1:158637764T>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.1922A>G	1.37:g.158637764T>C	ENSP00000357129:p.Gln641Arg		Somatic					p.Q641R	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			15	2102	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1922A>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519401	0.27211	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50813	0.73;0.73	4.95	4.95	0.65309	.	1.390910	0.05520	N	0.561957	T	0.25901	0.0631	L	0.46157	1.445	0.29970	N	0.818626	B	0.06786	0.001	B	0.11329	0.006	T	0.17531	-1.0366	10	0.19147	T	0.46	.	13.6072	0.62054	0.0:0.0:0.0:1.0	.	641	P02549	SPTA1_HUMAN	R	641	ENSP00000357130:Q641R;ENSP00000357129:Q641R	ENSP00000357129:Q641R	Q	-	2	0	SPTA1	156904388	1.000000	0.71417	0.312000	0.25196	0.300000	0.27592	6.793000	0.75130	2.080000	0.62538	0.528000	0.53228	CAG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	130	12	130	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662																																						ENST00000361200.2																			1	Substitution - coding silent(1)	p.Y351Y(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1051-1053)taC>taT		dual specificity phosphatase 27 (putative)							37.0	41.0	40.0					1																	167095421		2203	4299	6502	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095421C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1053C>T	1.37:g.167095421C>T			Somatic				DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y	p.Y351Y			WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			6	1219	+			351					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1053C>T	CCDS30932.1																																																																																				0.662	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	18	5	18	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:179432336G>A	ENST00000591111.1	-	276	73824	c.73600C>T	c.(73600-73602)Ccc>Tcc	p.P24534S	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26175S|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24534	Fibronectin type-III 78. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAGAGGGTTTACTTATT	0.388																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78523-78525)Ccc>Tcc		titin							84.0	79.0	80.0					2																	179432336		1897	4122	6019	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432336G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73600C>T	2.37:g.179432336G>A	ENSP00000465570:p.Pro24534Ser		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.P26175S	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	78747	-			24534			Fibronectin type-III 90.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78523C>T		.	.	.	.	.	.	.	.	.	.	G	13.58	2.278252	0.40294	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.66	5.66	0.87406	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76793	0.4037	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.999	D	0.83731	0.0198	9	0.87932	D	0	.	19.7292	0.96176	0.0:0.0:1.0:0.0	.	17110;17235;17302;24534	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23607;17110;17302;17235;17108	ENSP00000343764:P23607S;ENSP00000434586:P17110S;ENSP00000340554:P17302S;ENSP00000352154:P17235S	ENSP00000340554:P17302S	P	-	1	0	TTN	179140582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.022000	0.88759	2.654000	0.90174	0.561000	0.74099	CCC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	92	6	92	---	---	---	---
TKT	7086	broad.mit.edu	37	3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	424					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.D424V(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GGAGGGCCCGTCTTCCCCTGG	0.572																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			1	Substitution - Missense(1)	p.D424V(1)	prostate(1)	endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1270-1272)gAc>gTc		transketolase	Thiamine(DB00152)						109.0	114.0	112.0					3																	53263147		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53263147T>A		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1271A>T	3.37:g.53263147T>A	ENSP00000417773:p.Asp424Val		Somatic				TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V	p.D424V			WXS	Illumina GAIIx	Phase_I	P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	10	1359	-		Prostate(884;0.0959)	424					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.1271A>T	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735992	0.89482	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.61	5.61	0.85477	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97056	0.9038	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.997	D;D;D	0.78314	0.964;0.991;0.98	D	0.98087	1.0407	10	0.87932	D	0	-26.2822	15.8074	0.78524	0.0:0.0:0.0:1.0	.	432;341;424	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	V	424;424;432;377;258	ENSP00000417773:D424V;ENSP00000405455:D424V;ENSP00000391481:D432V;ENSP00000296289:D377V	ENSP00000296289:D377V	D	-	2	0	TKT	53238187	1.000000	0.71417	0.957000	0.39632	0.955000	0.61496	8.037000	0.88933	2.127000	0.65507	0.533000	0.62120	GAC		0.572	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			5	157	5	157	---	---	---	---
CEP97	79598	broad.mit.edu	37	3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	170					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.R170S(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373																																						ENST00000341893.3																			2	Substitution - Missense(2)	p.R170S(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(508-510)agA>agT		centrosomal protein 97kDa							171.0	167.0	169.0					3																	101450746		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101450746A>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.510A>T	3.37:g.101450746A>T	ENSP00000342510:p.Arg170Ser		Somatic				CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S	p.R170S			WXS	Illumina GAIIx	Phase_I	Q8IW35	CEP97_HUMAN			5	1262	+			170					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.510A>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713408	0.48517	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.53423	0.62;0.62;0.62	5.95	-2.15	0.07102	.	0.222643	0.47455	D	0.000228	T	0.15478	0.0373	N	0.01656	-0.775	0.29573	N	0.849768	B;B;B	0.31769	0.339;0.063;0.037	B;B;B	0.22753	0.035;0.041;0.018	T	0.19321	-1.0309	10	0.36615	T	0.2	-16.8323	10.6555	0.45673	0.2755:0.1277:0.5968:0.0	.	170;170;170	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	S	170	ENSP00000342510:R170S;ENSP00000325881:R170S;ENSP00000418185:R170S	ENSP00000325881:R170S	R	+	3	2	CEP97	102933436	0.875000	0.30112	0.978000	0.43139	0.998000	0.95712	0.189000	0.17037	-0.343000	0.08351	0.528000	0.53228	AGA		0.373	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		7	140	7	140	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr4:155506852A>G	ENST00000302053.3	-	5	1807	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_ENST00000403106.3_Missense_Mutation_p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	577					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.S577P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.S577P(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1729-1731)Tca>Cca		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						114.0	110.0	111.0					4																	155506852		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506852A>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1729T>C	4.37:g.155506852A>G	ENSP00000306361:p.Ser577Pro		Somatic				FGA_ENST00000403106.3_Missense_Mutation_p.S577P	p.S577P	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			5	1807	-	all_hematologic(180;0.215)	Renal(120;0.0458)	577					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1729T>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477705	0.63849	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.58940	0.3;2.6	5.93	-1.77	0.07982	.	14.928900	0.00166	N	0.000012	T	0.66237	0.2769	M	0.67397	2.05	0.09310	N	1	D;D	0.67145	0.98;0.996	P;P	0.58331	0.837;0.806	T	0.52653	-0.8547	10	0.59425	D	0.04	.	2.3897	0.04375	0.4219:0.1208:0.0716:0.3858	.	577;577	P02671-2;P02671	.;FIBA_HUMAN	P	577	ENSP00000306361:S577P;ENSP00000385981:S577P	ENSP00000306361:S577P	S	-	1	0	FGA	155726302	0.174000	0.23070	0.030000	0.17652	0.205000	0.24178	0.414000	0.21164	-0.173000	0.10761	0.533000	0.62120	TCA		0.443	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		25	82	25	82	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889273	889273	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:889273G>A	ENST00000467963.1	-	5	635	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000323510.4_Missense_Mutation_p.P41S|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	157	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343																																						ENST00000323510.4																			2	Substitution - Missense(2)	p.P41S(1)|p.P157S(1)	prostate(2)	breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(121-123)Ccc>Tcc		bromodomain containing 9							46.0	46.0	46.0					5																	889273		2202	4298	6500	SO:0001583	missense	65980						nucleic acid binding	g.chr5:889273G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.469C>T	5.37:g.889273G>A	ENSP00000419765:p.Pro157Ser		Somatic				BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S	p.P41S			WXS	Illumina GAIIx	Phase_I	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		2	120	-			157					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.121C>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494494	0.44352	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.27890	1.64;1.64;2.26;1.64;1.64;1.64	5.68	5.68	0.88126	Bromodomain (5);	0.100278	0.64402	D	0.000001	T	0.44540	0.1298	L	0.38692	1.165	0.80722	D	1	D;B;B;D	0.64830	0.986;0.306;0.286;0.994	P;B;B;P	0.58660	0.843;0.125;0.123;0.699	T	0.33523	-0.9865	10	0.87932	D	0	.	19.3811	0.94536	0.0:0.0:1.0:0.0	.	104;157;41;41	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	S	41;41;104;157;41;41	ENSP00000323557:P41S;ENSP00000373542:P41S;ENSP00000419845:P104S;ENSP00000419765:P157S;ENSP00000402984:P41S;ENSP00000420722:P41S	ENSP00000323557:P41S	P	-	1	0	BRD9	942273	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.187000	0.77730	2.676000	0.91093	0.563000	0.77884	CCC		0.343	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		13	15	13	15	---	---	---	---
GFM2	84340	broad.mit.edu	37	5	74056731	74056731	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338																																						ENST00000296805.3																			1	Substitution - coding silent(1)	p.L48L(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(142-144)ctA>ctG		G elongation factor, mitochondrial 2							94.0	104.0	101.0					5																	74056731		2203	4300	6503	SO:0001819	synonymous_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74056731T>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.144A>G	5.37:g.74056731T>C			Somatic				GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L	p.L48L	NM_032380.3	NP_115756.2	WXS	Illumina GAIIx	Phase_I	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	3	601	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	48						Silent	SNP	ENST00000296805.3	37	c.144A>G	CCDS4023.1																																																																																				0.338	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		6	174	6	174	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140516811G>A	ENST00000231134.5	+	1	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A599T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716																																						ENST00000231134.5																			1	Substitution - Missense(1)	p.A599T(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1795-1797)Gcc>Acc									33.0	36.0	35.0					5																	140516811		1894	3839	5733	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516811G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1795G>A	5.37:g.140516811G>A	ENSP00000231134:p.Ala599Thr		Somatic					p.A599T	NM_015669.2	NP_056484.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2012	+			599			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1795G>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755915	0.69648	.	.	ENSG00000113209	ENST00000231134	T	0.22134	1.97	4.65	3.62	0.41486	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53110	0.1776	M	0.93016	3.37	0.30631	N	0.75745	D	0.76494	0.999	D	0.68353	0.957	T	0.61043	-0.7142	9	0.87932	D	0	.	12.4712	0.55787	0.0:0.0:0.7006:0.2994	.	599	Q9Y5E4	PCDB5_HUMAN	T	599	ENSP00000231134:A599T	ENSP00000231134:A599T	A	+	1	0	PCDHB5	140496995	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.215000	0.17562	2.301000	0.77427	0.430000	0.28490	GCC		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		20	62	20	62	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716																																						ENST00000239450.2																			1	Substitution - Missense(1)	p.A600T(1)	prostate(1)	NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1798-1800)Gcc>Acc																																						SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590277G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1798G>A	5.37:g.140590277G>A	ENSP00000239450:p.Ala600Thr		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	p.A600T	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1987	+			600			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1798G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685796	0.68157	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.22134	1.97;1.97	3.25	2.1	0.27182	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57651	0.2068	H	0.97340	3.985	0.33069	D	0.535096	D	0.89917	1.0	D	0.87578	0.998	T	0.72760	-0.4196	9	0.87932	D	0	.	9.6764	0.40043	0.0:0.0:0.6081:0.3919	.	600	Q9Y5F1	PCDBC_HUMAN	T	263;600;220	ENSP00000440199:A263T;ENSP00000239450:A600T	ENSP00000239450:A600T	A	+	1	0	PCDHB12	140570461	0.003000	0.15002	1.000000	0.80357	0.985000	0.73830	0.337000	0.19841	1.529000	0.49120	0.479000	0.44913	GCC		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		7	234	7	234	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10586319	10586319	+	Intron	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:10586319T>C	ENST00000379597.3	+	2	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.Y33H|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.Y33H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCAAAAAGTTATGAGAAGCT	0.388																																						ENST00000265012.4																			1	Substitution - Missense(1)	p.Y33H(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(97-99)Tat>Cat		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							144.0	139.0	141.0					6																	10586319		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586319T>C	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35265T>C	6.37:g.10586319T>C			Somatic				GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.Y33H	NM_145655.3	NP_663630.2	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	341	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	34						Missense_Mutation	SNP	ENST00000379597.3	37	c.97T>C	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	T	8.459	0.854811	0.17106	.	.	ENSG00000111846	ENST00000265012	T	0.09723	2.95	4.8	0.907	0.19321	.	.	.	.	.	T	0.01029	0.0034	N	0.04018	-0.295	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48364	-0.9042	9	0.16420	T	0.52	.	3.9066	0.09185	0.1635:0.3608:0.0:0.4757	.	33	Q8NFS9	GNT2C_HUMAN	H	33	ENSP00000265012:Y33H	ENSP00000265012:Y33H	Y	+	1	0	GCNT2	10694305	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.270000	0.18607	-0.091000	0.12440	0.460000	0.39030	TAT		0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		4	156	4	156	---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:47763181C>T	ENST00000371211.2	+	4	666	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000489301.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			1	Substitution - Missense(1)	p.A213V(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(637-639)gCt>gTt		opsin 5							119.0	105.0	109.0					6																	47763181		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47763181C>T	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.638C>T	6.37:g.47763181C>T	ENSP00000360255:p.Ala213Val		Somatic				OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR	p.A213V			WXS	Illumina GAIIx	Phase_I	Q6U736	OPN5_HUMAN			4	723	+			213					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.638C>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669947	0.29693	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.35421	1.31;1.31;1.31	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.173853	0.56097	D	0.000028	T	0.11239	0.0274	N	0.16656	0.425	0.40391	D	0.979548	B	0.12013	0.005	B	0.12156	0.007	T	0.11155	-1.0599	10	0.16896	T	0.51	.	13.479	0.61324	0.0:0.9289:0.0:0.0711	.	213	Q6U736	OPN5_HUMAN	V	213	ENSP00000426991:A213V;ENSP00000360255:A213V;ENSP00000377302:A213V	ENSP00000360255:A213V	A	+	2	0	OPN5	47871140	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	2.803000	0.96430	0.650000	0.86243	GCT		0.542	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		32	80	32	80	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30491719	30491719	+	Silent	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:30491719G>T	ENST00000222823.4	-	6	1839	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	438	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCAGGCTGCTGGGCTGCATCC	0.652																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1312-1314)ccC>ccA		nucleotide-binding oligomerization domain containing 1							56.0	54.0	55.0					7																	30491719		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491719G>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1314C>A	7.37:g.30491719G>T			Somatic					p.P438P	NM_006092.2	NP_006083.1	WXS	Illumina GAIIx	Phase_I	Q9Y239	NOD1_HUMAN			6	1839	-			438			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1314C>A	CCDS5427.1																																																																																				0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			4	83	4	83	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44185094	44185094	+	Splice_Site	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000395796.3_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627																																						ENST00000403799.3																			2	Unknown(2)	p.?(2)	prostate(2)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.e9+1		glucokinase (hexokinase 4)							23.0	24.0	23.0					7																	44185094		2203	4300	6503	SO:0001630	splice_region_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185094A>G	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1253+1T>C	7.37:g.44185094A>G			Somatic				GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site		NM_000162.3	NP_000153.1	WXS	Illumina GAIIx	Phase_I	P35557	HXK4_HUMAN			9	1723	-								A4D2J2|A4D2J3|Q05810	Splice_Site	SNP	ENST00000403799.3	37		CCDS5479.1	.	.	.	.	.	.	.	.	.	.	a	27.2	4.812864	0.90707	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3896	0.74731	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCK	44151619	1.000000	0.71417	0.979000	0.43373	0.964000	0.63967	9.286000	0.95898	2.122000	0.65172	0.459000	0.35465	.		0.627	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		Intron	3	9	3	9	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53586756	53586756	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:53586756C>A	ENST00000025008.5	-	7	1174	c.651G>T	c.(649-651)ttG>ttT	p.L217F	RB1CC1_ENST00000539297.1_Missense_Mutation_p.L217F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L217F|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	217					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCAGTCTTCCCAAACATTCTC	0.403																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(649-651)ttG>ttT		RB1-inducible coiled-coil 1							180.0	173.0	175.0					8																	53586756		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586756C>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.651G>T	8.37:g.53586756C>A	ENSP00000025008:p.Leu217Phe		Somatic				RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L217F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L217F	p.L217F	NM_014781.4	NP_055596.3	WXS	Illumina GAIIx	Phase_I	Q8TDY2	RBCC1_HUMAN			7	1174	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	217					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.651G>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857563	0.71834	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15718	2.4;2.4;2.4	5.36	4.45	0.53987	.	0.150825	0.44688	D	0.000430	T	0.30978	0.0782	L	0.58810	1.83	0.58432	D	0.999994	D;D	0.67145	0.996;0.993	D;P	0.65010	0.931;0.855	T	0.04537	-1.0944	10	0.72032	D	0.01	-8.1605	6.3054	0.21135	0.0:0.6539:0.0:0.3461	.	217;217	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	F	217	ENSP00000025008:L217F;ENSP00000396067:L217F;ENSP00000445960:L217F	ENSP00000025008:L217F	L	-	3	2	RB1CC1	53749309	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.713000	0.37951	1.305000	0.44909	0.467000	0.42956	TTG		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		4	157	4	157	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:68950516A>T	ENST00000288368.4	+	7	1105	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	276	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.K276N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.K276N(2)	prostate(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(826-828)aaA>aaT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							72.0	69.0	70.0					8																	68950516		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68950516A>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.828A>T	8.37:g.68950516A>T	ENSP00000288368:p.Lys276Asn		Somatic				PREX2_ENST00000529398.1_3'UTR	p.K276N	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	Q70Z35	PREX2_HUMAN			7	1105	+			276			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.828A>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872754	0.72180	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.91740	-2.9	5.62	3.24	0.37175	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	L	0.47016	1.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.986;0.997	D	0.91923	0.5549	10	0.87932	D	0	.	8.9814	0.35968	0.7897:0.0:0.2103:0.0	.	276;276;276	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	N	276	ENSP00000288368:K276N	ENSP00000288368:K276N	K	+	3	2	PREX2	69113070	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.390000	0.59646	0.420000	0.25954	-0.256000	0.11100	AAA		0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		14	33	14	33	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139642957	139642957	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:139642957G>T	ENST00000303045.6	-	50	4090	c.3644C>A	c.(3643-3645)cCa>cAa	p.P1215Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1215	Collagen-like 11.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1215Q(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGATTCCTGGTGGTCCAGC	0.478										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.P1215Q(1)	prostate(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3643-3645)cCa>cAa		collagen, type XXII, alpha 1							141.0	140.0	140.0					8																	139642957		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139642957G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3644C>A	8.37:g.139642957G>T	ENSP00000303153:p.Pro1215Gln	HNSCC(7;0.00092)	Somatic				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195Q|COL22A1_ENST00000341807.4_5'UTR	p.P1215Q	NM_152888.1	NP_690848.1	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		50	4090	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1215			Collagen-like 11.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3644C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885855	0.33348	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96716	-4.1;-4.1	5.65	5.65	0.86999	.	0.136345	0.33438	N	0.004918	D	0.97005	0.9022	L	0.51853	1.615	0.45015	D	0.998039	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95296	0.8399	10	0.27785	T	0.31	.	15.093	0.72211	0.0:0.0:1.0:0.0	.	1195;1215	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	1215;1195;908	ENSP00000303153:P1215Q;ENSP00000387655:P1195Q	ENSP00000303153:P1215Q	P	-	2	0	COL22A1	139712139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.785000	0.62418	2.941000	0.99782	0.655000	0.94253	CCA		0.478	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		4	172	4	172	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	45	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C45R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607																																						ENST00000380548.4																			2	Substitution - Missense(2)	p.C45R(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(133-135)Tgc>Cgc		ADAMTS-like 1							54.0	57.0	56.0					9																	18504896		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504896T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.133T>C	9.37:g.18504896T>C	ENSP00000369921:p.Cys45Arg		Somatic				ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R	p.C45R	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	472	+			45			TSP type-1 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.133T>C	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572993	0.86542	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.31	5.31	0.75309	.	.	.	.	.	D	0.99378	0.9781	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98376	1.0556	9	0.87932	D	0	.	15.2592	0.73610	0.0:0.0:0.0:1.0	.	45;45	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	R	45	ENSP00000369921:C45R;ENSP00000327887:C45R;ENSP00000401157:C45R;ENSP00000369944:C45R;ENSP00000369940:C45R;ENSP00000276935:C45R	ENSP00000276935:C45R	C	+	1	0	ADAMTSL1	18494896	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.873000	0.87193	2.009000	0.58944	0.402000	0.26972	TGC		0.607	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	98	11	98	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19360324	19360324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:19360324C>A	ENST00000380432.2	+	24	4421	c.4388C>A	c.(4387-4389)tCt>tAt	p.S1463Y	DENND4C_ENST00000602925.1_Missense_Mutation_p.S1699Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1748Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1463					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S1463Y(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAACTTGAATCTTTGCTAGAA	0.378																																						ENST00000380432.2																			1	Substitution - Missense(1)	p.S1463Y(1)	prostate(1)	breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4387-4389)tCt>tAt		DENN/MADD domain containing 4C							138.0	133.0	134.0					9																	19360324		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19360324C>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4388C>A	9.37:g.19360324C>A	ENSP00000369797:p.Ser1463Tyr		Somatic				DENND4C_ENST00000602925.1_Missense_Mutation_p.S1699Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1748Y	p.S1463Y			WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			24	4421	+			1463					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.4388C>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.294705	0.81025	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.37411	1.21;1.2	5.68	5.68	0.88126	.	0.050050	0.85682	D	0.000000	T	0.65852	0.2731	M	0.82323	2.585	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.996;0.997;0.942	T	0.66901	-0.5806	9	.	.	.	-19.0738	19.7905	0.96454	0.0:1.0:0.0:0.0	.	793;645;1463	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	Y	1463;936;645;793;936;645;460	ENSP00000305795:S936Y;ENSP00000443804:S793Y	.	S	+	2	0	DENND4C	19350324	0.796000	0.28864	1.000000	0.80357	0.992000	0.81027	1.593000	0.36686	2.666000	0.90696	0.655000	0.94253	TCT		0.378	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		4	146	4	146	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117052373	117052373	+	Silent	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:117052373A>G	ENST00000356083.3	+	46	4633	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P1414P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642																																						ENST00000356083.3																			1	Substitution - coding silent(1)	p.P1414P(1)	prostate(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4240-4242)ccA>ccG		collagen, type XXVII, alpha 1							35.0	42.0	40.0					9																	117052373		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117052373A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4242A>G	9.37:g.117052373A>G			Somatic					p.P1414P	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			46	4633	+			1414			Collagen-like 13.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.4242A>G	CCDS6802.1																																																																																				0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		3	89	3	89	---	---	---	---
OR4X1	390113	broad.mit.edu	37	11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:48286184A>G	ENST00000320048.1	+	1	772	c.772A>G	c.(772-774)Agg>Ggg	p.R258G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGTCTATATTAGGCCCTGTGT	0.493																																						ENST00000320048.1																			1	Substitution - Missense(1)	p.R258G(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(772-774)Agg>Ggg		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							165.0	153.0	157.0					11																	48286184		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286184A>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.772A>G	11.37:g.48286184A>G	ENSP00000321506:p.Arg258Gly		Somatic					p.R258G	NM_001004726.1	NP_001004726.1	WXS	Illumina GAIIx	Phase_I	Q8NH49	OR4X1_HUMAN			1	772	+			258					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.772A>G	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997212	0.35226	.	.	ENSG00000176567	ENST00000320048	T	0.35973	1.28	4.29	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59810	0.2221	M	0.88105	2.93	0.21762	N	0.999551	D	0.89917	1.0	D	0.91635	0.999	T	0.45440	-0.9261	9	0.87932	D	0	.	6.1234	0.20165	0.3815:0.4626:0.0:0.1559	.	258	Q8NH49	OR4X1_HUMAN	G	258	ENSP00000321506:R258G	ENSP00000321506:R258G	R	+	1	2	OR4X1	48242760	0.000000	0.05858	1.000000	0.80357	0.295000	0.27426	-0.455000	0.06762	0.244000	0.21351	0.460000	0.39030	AGG		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		3	221	3	221	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6058267	6058267	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:6058267G>T	ENST00000261405.5	-	52	8610	c.8356C>A	c.(8356-8358)Ctg>Atg	p.L2786M	ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000546188.1_5'Flank|ANO2_ENST00000356134.5_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2786	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTGCAGTGCAGGGCCACCTGC	0.567																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(8356-8358)Ctg>Atg		von Willebrand factor	Antihemophilic Factor(DB00025)						99.0	77.0	85.0					12																	6058267		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058267G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8356C>A	12.37:g.6058267G>T	ENSP00000261405:p.Leu2786Met		Somatic					p.L2786M	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			52	8610	-			2786			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8356C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764627	0.49574	.	.	ENSG00000110799	ENST00000261405	T	0.60548	0.18	5.01	4.1	0.47936	Cystine knot, C-terminal (3);	0.000000	0.27581	N	0.018727	T	0.73016	0.3533	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.74728	-0.3567	10	0.72032	D	0.01	.	10.2628	0.43436	0.0989:0.0:0.9011:0.0	.	2786	P04275	VWF_HUMAN	M	2786	ENSP00000261405:L2786M	ENSP00000261405:L2786M	L	-	1	2	VWF	5928528	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	3.608000	0.54109	1.084000	0.41184	0.555000	0.69702	CTG		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	33	3	33	---	---	---	---
CLEC1A	51267	broad.mit.edu	37	12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	107					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.N107I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448																																						ENST00000315330.4																			1	Substitution - Missense(1)	p.N107I(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(319-321)aAt>aTt		C-type lectin domain family 1, member A							122.0	122.0	122.0					12																	10233907		2203	4300	6503	SO:0001583	missense	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10233907T>A	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.320A>T	12.37:g.10233907T>A	ENSP00000326407:p.Asn107Ile		Somatic				CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	p.N107I	NM_016511.2	NP_057595.2	WXS	Illumina GAIIx	Phase_I	Q8NC01	CLC1A_HUMAN			3	382	-			107					Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.320A>T	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928778	0.34002	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.15952	2.38;2.38	5.24	5.24	0.73138	.	0.352697	0.24256	N	0.040128	T	0.21509	0.0518	L	0.43598	1.365	0.58432	D	0.999993	P;D	0.54397	0.952;0.966	P;P	0.52267	0.694;0.543	T	0.03043	-1.1079	10	0.15066	T	0.55	.	11.5257	0.50578	0.0:0.0:0.0:1.0	.	74;107	E9PFB4;Q8NC01	.;CLC1A_HUMAN	I	107;74	ENSP00000326407:N107I;ENSP00000415048:N74I	ENSP00000326407:N107I	N	-	2	0	CLEC1A	10125174	0.584000	0.26766	0.147000	0.22382	0.074000	0.17049	3.724000	0.54962	1.975000	0.57531	0.460000	0.39030	AAT		0.448	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		5	92	5	92	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13155157	13155157	+	5'Flank	SNP	T	T	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:13155157T>G	ENST00000014930.4	-	0	0				RP11-377D9.3_ENST00000543321.1_lincRNA|HEBP1_ENST00000536942.1_5'Flank	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)	p.S537A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CACGATTTACTCCACCGCAGT	0.478																																						ENST00000543321.1																			1	Substitution - Missense(1)	p.S537A(1)	prostate(1)																																														SO:0001631	upstream_gene_variant	93164							g.chr12:13155157T>G	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13155157T>G	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	31	+								A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37		CCDS31749.1																																																																																				0.478	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			3	13	3	13	---	---	---	---
ANAPC7	51434	broad.mit.edu	37	12	110815282	110815282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:110815282C>A	ENST00000455511.3	-	9	1375	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.E459*	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	459					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.E425*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTGGCTTTCTCCTGTGTCACT	0.418																																						ENST00000455511.3																			1	Substitution - Nonsense(1)	p.E425*(1)	prostate(1)	breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1375-1377)Gag>Tag		anaphase promoting complex subunit 7							248.0	210.0	223.0					12																	110815282		2203	4300	6503	SO:0001587	stop_gained	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110815282C>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1375G>T	12.37:g.110815282C>A	ENSP00000394394:p.Glu459*		Somatic				ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.E459*|ANAPC7_ENST00000481473.1_5'UTR	p.E459*	NM_016238.2	NP_057322.2	WXS	Illumina GAIIx	Phase_I	Q9UJX3	APC7_HUMAN			9	1375	-			459					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	c.1375G>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	42	9.235192	0.99110	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	.	.	.	5.79	5.79	0.91817	.	0.044930	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.4707	20.0313	0.97540	0.0:1.0:0.0:0.0	.	.	.	.	X	459;33;57;459;152	.	ENSP00000402314:E459X	E	-	1	0	ANAPC7	109299665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.746000	0.94184	0.655000	0.94253	GAG		0.418	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		4	123	4	123	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118480735	118480735	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:118480735C>A	ENST00000315436.3	-	4	611	c.470G>T	c.(469-471)aGa>aTa	p.R157I	WSB2_ENST00000441406.2_Missense_Mutation_p.R174I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R159I|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	157					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R157I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCAGATCTCTCACGACATC	0.562																																						ENST00000315436.3																			1	Substitution - Missense(1)	p.R157I(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(469-471)aGa>aTa		WD repeat and SOCS box containing 2							106.0	105.0	105.0					12																	118480735		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118480735C>A	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.470G>T	12.37:g.118480735C>A	ENSP00000319474:p.Arg157Ile		Somatic				WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.R159I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.R174I|WSB2_ENST00000544233.1_Intron	p.R157I	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina GAIIx	Phase_I	Q9NYS7	WSB2_HUMAN			4	611	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		157					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.470G>T	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125533	0.94429	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047272	0.85682	D	0.000000	T	0.73768	0.3629	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.68277	-0.5451	10	0.28530	T	0.3	-9.4694	18.7952	0.91991	0.0:1.0:0.0:0.0	.	157	Q9NYS7	WSB2_HUMAN	I	157;174;159;159	ENSP00000319474:R157I;ENSP00000409131:R174I;ENSP00000439450:R159I;ENSP00000440386:R159I	ENSP00000319474:R157I	R	-	2	0	WSB2	116965118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.037000	0.70956	2.727000	0.93392	0.644000	0.83932	AGA		0.562	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		4	141	4	141	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:122669084C>T	ENST00000339777.4	+	2	197	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562																																						ENST00000339777.4																			1	Substitution - Missense(1)	p.P57S(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(169-171)Cct>Tct		leucine rich repeat containing 43							42.0	43.0	42.0					12																	122669084		1953	4147	6100	SO:0001583	missense	254050							g.chr12:122669084C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.169C>T	12.37:g.122669084C>T	ENSP00000344233:p.Pro57Ser		Somatic				LRRC43_ENST00000425921.1_5'UTR	p.P57S	NM_152759.4	NP_689972.3	WXS	Illumina GAIIx	Phase_I	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	197	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		57					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.169C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.248263	0.39697	.	.	ENSG00000158113	ENST00000339777	T	0.55413	0.52	4.94	4.04	0.47022	.	.	.	.	.	T	0.47728	0.1461	L	0.55481	1.735	0.39715	D	0.971389	P	0.40970	0.734	B	0.43478	0.421	T	0.42616	-0.9441	9	0.27785	T	0.31	-8.7263	7.7175	0.28712	0.0:0.7425:0.1669:0.0906	.	57	Q8N309	LRC43_HUMAN	S	57	ENSP00000344233:P57S	ENSP00000344233:P57S	P	+	1	0	LRRC43	121235037	0.003000	0.15002	0.241000	0.24154	0.295000	0.27426	0.484000	0.22308	2.272000	0.75746	0.462000	0.41574	CCT		0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		3	33	3	33	---	---	---	---
CHMP4A	29082	broad.mit.edu	37	14	24682652	24682652	+	5'UTR	SNP	C	C	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr14:24682652C>G	ENST00000609024.1	-	0	42				AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|MDP1_ENST00000532557.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E41D|TM9SF1_ENST00000556387.1_5'UTR			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.E41D(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCATCGCGAGCTCGCCTCTCC	0.672																																						ENST00000347519.6																			1	Substitution - Missense(1)	p.E41D(1)	prostate(1)	NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(121-123)gaG>gaC		charged multivesicular body protein 4A							44.0	42.0	43.0					14																	24682652		2203	4300	6503	SO:0001623	5_prime_UTR_variant	29082							g.chr14:24682652C>G	AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.-7G>C	14.37:g.24682652C>G			Somatic				CHMP4A_ENST00000609024.1_5'UTR|TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|CHMP4A_ENST00000530996.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	p.E41D	NM_014169.3	NP_054888.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(265;0.0181)	1	423	-								Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37	c.123G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.075884|2.075884	0.36662|0.36662	.|.	.|.	ENSG00000254505|ENSG00000254505	ENST00000548308|ENST00000347519	.|T	.|0.58797	.|0.31	5.08|5.08	2.21|2.21	0.28008|0.28008	.|.	.|.	.|.	.|.	.|.	T|T	0.30479|0.30479	0.0766|0.0766	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.21042|0.21042	-1.0257|-1.0257	5|9	.|0.13853	.|T	.|0.58	0.3283|0.3283	5.4231|5.4231	0.16411|0.16411	0.0:0.6543:0.1642:0.1815|0.0:0.6543:0.1642:0.1815	.|.	.|41	.|Q14D22	.|.	P|D	18|41	.|ENSP00000324205:E41D	.|ENSP00000324205:E41D	A|E	-|-	1|3	0|2	AL096870.1|AL096870.1	23752492|23752492	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.259000|0.259000	0.26198|0.26198	0.882000|0.882000	0.28186|0.28186	0.291000|0.291000	0.22468|0.22468	0.609000|0.609000	0.83330|0.83330	GCT|GAG		0.672	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		6	50	6	50	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:3658496G>A	ENST00000294008.3	-	2	1110	c.470C>T	c.(469-471)gCa>gTa	p.A157V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	157	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.A157V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGTTTTGTGCTGTTTCCCG	0.522								Direct reversal of damage																														ENST00000294008.3																			1	Substitution - Missense(1)	p.A157V(1)	prostate(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(469-471)gCa>gTa	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							115.0	115.0	115.0					16																	3658496		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658496G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.470C>T	16.37:g.3658496G>A	ENSP00000294008:p.Ala157Val		Somatic					p.A157V	NM_032444.2	NP_115820.2	WXS	Illumina GAIIx	Phase_I	Q8IY92	SLX4_HUMAN			2	1110	-			157			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.470C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536400	0.65085	.	.	ENSG00000188827	ENST00000294008	T	0.01369	4.97	4.94	-0.0417	0.13866	.	0.978779	0.08330	N	0.962511	T	0.01061	0.0035	N	0.22421	0.69	0.09310	N	1	B	0.20550	0.046	B	0.15870	0.014	T	0.49312	-0.8953	10	0.17832	T	0.49	.	3.2878	0.06937	0.295:0.0:0.482:0.223	.	157	Q8IY92	SLX4_HUMAN	V	157	ENSP00000294008:A157V	ENSP00000294008:A157V	A	-	2	0	SLX4	3598497	0.000000	0.05858	0.000000	0.03702	0.891000	0.51852	-0.231000	0.09069	0.232000	0.21100	0.650000	0.86243	GCA		0.522	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		6	142	6	142	---	---	---	---
ZNF747	65988	broad.mit.edu	37	16	30545567	30545567	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:30545567C>A	ENST00000252799.3	-	1	1101	c.434G>T	c.(433-435)cGg>cTg	p.R145L	AC002310.12_ENST00000569752.1_RNA|AC002310.13_ENST00000568114.1_Silent_p.P87P|ZNF747_ENST00000568028.1_Silent_p.P98P|ZNF747_ENST00000395094.3_Missense_Mutation_p.R145L|ZNF747_ENST00000569360.1_Silent_p.P98P|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000535210.1_Silent_p.P98P	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	145					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R145L(1)		kidney(1)|lung(3)|prostate(1)	5						CCTGGGCAGCCGGATCCCACA	0.637																																						ENST00000252799.3																			1	Substitution - Missense(1)	p.R145L(1)	prostate(1)	kidney(1)|lung(3)|prostate(1)	5						c.(433-435)cGg>cTg		zinc finger protein 747							25.0	21.0	22.0					16																	30545567		2196	4298	6494	SO:0001583	missense	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30545567C>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.434G>T	16.37:g.30545567C>A	ENSP00000252799:p.Arg145Leu		Somatic				ZNF747_ENST00000395094.3_Missense_Mutation_p.R145L|ZNF747_ENST00000568028.1_Silent_p.P98P|AC002310.13_ENST00000568114.1_Silent_p.P87P|ZNF747_ENST00000569360.1_Silent_p.P98P|ZNF747_ENST00000535210.1_Silent_p.P98P	p.R145L	NM_023931.2	NP_076420.1	WXS	Illumina GAIIx	Phase_I	Q9BV97	ZN747_HUMAN			1	1101	-			145					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.434G>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448402	0.26074	.	.	ENSG00000169955	ENST00000252799;ENST00000395094	T;T	0.02395	4.31;4.42	2.43	-4.87	0.03123	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.22253	N	0.999255	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.005	T	0.44019	-0.9355	9	0.37606	T	0.19	.	2.6395	0.04967	0.1141:0.3925:0.1191:0.3744	.	145;145	Q9BV97-2;Q9BV97	.;ZN747_HUMAN	L	145	ENSP00000252799:R145L;ENSP00000378528:R145L	ENSP00000252799:R145L	R	-	2	0	ZNF747	30453068	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-3.089000	0.00610	-2.274000	0.00680	-1.842000	0.00583	CGG		0.637	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		3	5	3	5	---	---	---	---
SERPINF1	5176	broad.mit.edu	37	17	1679918	1679918	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:1679918C>T	ENST00000254722.4	+	7	1042	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	293					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L293L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522																																						ENST00000254722.4																			1	Substitution - coding silent(1)	p.L293L(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(877-879)ctC>ctT		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							143.0	132.0	136.0					17																	1679918		2203	4300	6503	SO:0001819	synonymous_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1679918C>T	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.879C>T	17.37:g.1679918C>T			Somatic					p.L293L	NM_002615.5	NP_002606.3	WXS	Illumina GAIIx	Phase_I	P36955	PEDF_HUMAN			7	1042	+			293					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	c.879C>T	CCDS11012.1																																																																																				0.522	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		5	166	5	166	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:27844648A>C	ENST00000261716.3	+	16	2401	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	628					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.N628H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393																																						ENST00000261716.3																			2	Substitution - Missense(2)	p.N628H(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1882-1884)Aac>Cac		TAO kinase 1							114.0	119.0	117.0					17																	27844648		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27844648A>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1882A>C	17.37:g.27844648A>C	ENSP00000261716:p.Asn628His		Somatic				TAOK1_ENST00000536202.1_Intron	p.N628H	NM_020791.2	NP_065842.1	WXS	Illumina GAIIx	Phase_I	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		16	2401	+			628					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1882A>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.817879	0.90790	.	.	ENSG00000160551	ENST00000261716	T	0.42900	0.96	5.93	5.93	0.95920	Protein kinase-like domain (1);	0.042434	0.85682	D	0.000000	T	0.59998	0.2235	M	0.74881	2.28	0.80722	D	1	P	0.42248	0.774	P	0.52909	0.713	T	0.61088	-0.7133	10	0.52906	T	0.07	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	628	Q7L7X3	TAOK1_HUMAN	H	628	ENSP00000261716:N628H	ENSP00000261716:N628H	N	+	1	0	TAOK1	24868774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.512000	0.81728	2.281000	0.76405	0.533000	0.62120	AAC		0.393	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		28	97	28	97	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	685					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E685G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572																																						ENST00000268876.5																			1	Substitution - Missense(1)	p.E685G(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2053-2055)gAg>gGg		unc-45 homolog B (C. elegans)							139.0	112.0	121.0					17																	33504058		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33504058A>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2054A>G	17.37:g.33504058A>G	ENSP00000268876:p.Glu685Gly		Somatic				UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	p.E685G	NM_173167.2	NP_775259.1	WXS	Illumina GAIIx	Phase_I	Q8IWX7	UN45B_HUMAN			16	2151	+		Ovarian(249;0.17)	685					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2054A>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077960	0.94000	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.51325	0.71;3.06;0.71	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.113820	0.64402	D	0.000009	T	0.70254	0.3203	M	0.83603	2.65	0.80722	D	1	D;P;D	0.76494	0.999;0.953;0.97	D;P;P	0.78314	0.991;0.628;0.662	T	0.74917	-0.3501	10	0.62326	D	0.03	-47.432	14.4831	0.67597	1.0:0.0:0.0:0.0	.	604;683;685	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	G	685;685;683;604	ENSP00000268876:E685G;ENSP00000412840:E683G;ENSP00000367710:E604G	ENSP00000268876:E685G	E	+	2	0	UNC45B	30528171	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.270000	0.75569	0.460000	0.39030	GAG		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		3	133	3	133	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80726352	80726352	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473																																						ENST00000355528.4																			0											c.(490-492)ccT>ccC		tubulin folding cofactor D							217.0	222.0	220.0					17																	80726352		1965	4153	6118	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80726352T>C	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.492T>C	17.37:g.80726352T>C			Somatic				TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	p.P164P	NM_005993.4	NP_005984.3	WXS	Illumina GAIIx	Phase_I	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		5	622	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	164					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.492T>C	CCDS45818.1																																																																																				0.473	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		4	297	4	297	---	---	---	---
ZNF709	163051	broad.mit.edu	37	19	12575501	12575501	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:12575501C>A	ENST00000397732.3	-	4	1406	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R412I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCTTTCATGCAT	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.R412I(2)	large_intestine(1)|prostate(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1234-1236)aGa>aTa		zinc finger protein 709							105.0	109.0	108.0					19																	12575501		2201	4299	6500	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575501C>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1235G>T	19.37:g.12575501C>A	ENSP00000380840:p.Arg412Ile		Somatic				ZNF709_ENST00000428311.1_Missense_Mutation_p.R412I|CTD-3105H18.18_ENST00000598753.1_Intron	p.R412I	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1406	-			412					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1235G>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267803	0.40095	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24908	1.83;1.83	3.05	0.858	0.19030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002044	T	0.29716	0.0742	M	0.87971	2.92	0.41667	D	0.989214	B	0.29646	0.253	B	0.23018	0.043	T	0.21381	-1.0247	10	0.72032	D	0.01	.	8.6789	0.34196	0.0:0.7924:0.0:0.2076	.	412	Q8N972	ZN709_HUMAN	I	412	ENSP00000380840:R412I;ENSP00000404127:R412I	ENSP00000404127:R412I	R	-	2	0	ZNF709;CTD-2192J16.17	12436501	0.000000	0.05858	0.293000	0.24932	0.963000	0.63663	-1.379000	0.02554	0.337000	0.23665	0.591000	0.81541	AGA		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	123	4	123	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	348					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.L348R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.L348R(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1042-1044)cTt>cGt		egf-like module containing, mucin-like, hormone receptor-like 2							68.0	63.0	65.0					19																	14875286		2203	4299	6502	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875286A>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1043T>G	19.37:g.14875286A>C	ENSP00000319883:p.Leu348Arg		Somatic				EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R	p.L348R	NM_013447.3	NP_038475.2	WXS	Illumina GAIIx	Phase_I	Q9UHX3	EMR2_HUMAN			11	1494	-			348					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1043T>G	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432922	0.43224	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;D;T;T;T;D;T;D	0.85484	-1.46;-1.68;-1.01;-0.2;0.46;-1.99;0.54;-1.97	3.54	3.54	0.40534	.	.	.	.	.	D	0.89086	0.6615	M	0.70275	2.135	0.30363	N	0.783662	P;B;P;D;P;B;B;P	0.55800	0.771;0.147;0.712;0.973;0.534;0.032;0.375;0.903	B;B;P;P;P;B;B;P	0.59825	0.424;0.099;0.534;0.864;0.647;0.04;0.24;0.857	D	0.85061	0.0934	9	0.56958	D	0.05	.	9.0755	0.36519	1.0:0.0:0.0:0.0	.	348;255;348;206;299;348;348;348	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	R	348;348;299;255;206;348;87;299	ENSP00000319883:L348R;ENSP00000376694:L348R;ENSP00000263380:L299R;ENSP00000319454:L255R;ENSP00000319838:L206R;ENSP00000376692:L348R;ENSP00000376691:L87R;ENSP00000376689:L299R	ENSP00000319883:L348R	L	-	2	0	EMR2	14736286	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	0.964000	0.29306	1.568000	0.49683	0.416000	0.27883	CTT		0.577	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			3	63	3	63	---	---	---	---
PSG11	5680	broad.mit.edu	37	19	43519267	43519267	+	Splice_Site	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473																																						ENST00000401740.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.e4+1		pregnancy specific beta-1-glycoprotein 11							136.0	130.0	132.0					19																	43519267		2199	4298	6497	SO:0001630	splice_region_variant	5680				female pregnancy	extracellular region		g.chr19:43519267C>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.964+1G>T	19.37:g.43519267C>A			Somatic				PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UQ72	PSG11_HUMAN			4	1068	-		Prostate(69;0.00682)						B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000401740.1	37		CCDS12614.2	.	.	.	.	.	.	.	.	.	.	C	4.093	0.015276	0.07959	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	.	.	.	0.976	0.976	0.19727	.	.	.	.	.	.	.	.	.	.	.	0.21527	N	0.999653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2168	0.15346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG11	48211107	0.247000	0.23920	0.014000	0.15608	0.019000	0.09904	0.414000	0.21164	0.453000	0.26858	0.184000	0.17185	.		0.473	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	Intron	12	158	12	158	---	---	---	---
KLK3	354	broad.mit.edu	37	19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:51361766A>C	ENST00000326003.2	+	4	586	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000360617.3_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D182A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			2	Substitution - Missense(2)	p.D182A(2)	prostate(2)	breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(544-546)gAc>gCc		kallikrein-related peptidase 3							204.0	177.0	186.0					19																	51361766		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361766A>C	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.545A>C	19.37:g.51361766A>C	ENSP00000314151:p.Asp182Ala		Somatic				KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A	p.D182A			WXS	Illumina GAIIx	Phase_I	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	4	545	+		all_neural(266;0.057)	182			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.545A>C	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728014	0.30593	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617;ENST00000326052	D;D	0.88277	-2.36;-2.36	3.11	0.671	0.17929	.	0.885835	0.09357	N	0.813326	T	0.76176	0.3951	N	0.02658	-0.545	0.09310	N	1	P;P;B	0.47910	0.902;0.846;0.371	P;B;B	0.53722	0.733;0.432;0.142	T	0.67039	-0.5771	10	0.06891	T	0.86	.	3.7596	0.08599	0.5619:0.2224:0.0:0.2157	.	141;182;139	Q8NCW4;G3XAE3;G3V0H4	.;.;.	A	182;139;182;141	ENSP00000314151:D182A;ENSP00000353829:D182A	ENSP00000314151:D182A	D	+	2	0	KLK3	56053578	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.440000	0.06888	-0.075000	0.12798	0.329000	0.21502	GAC		0.547	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		6	175	6	175	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|TSEN34_ENST00000429671.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	64					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)	p.I64M(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			1	Substitution - Missense(1)	p.I64M(1)	prostate(1)	endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(190-192)atT>atG		membrane bound O-acyltransferase domain containing 7							57.0	66.0	63.0					19																	54692085		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692085A>C	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.192T>G	19.37:g.54692085A>C	ENSP00000245615:p.Ile64Met		Somatic				MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A	p.I64M	NM_024298.3	NP_077274.3	WXS	Illumina GAIIx	Phase_I	Q96N66	MBOA7_HUMAN			3	672	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		64					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.192T>G	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.69|12.69	2.012418|2.012418	0.35511|0.35511	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.43688|0.18810	2.28;1.54;0.94|2.19;2.19	4.06|4.06	-0.178|-0.178	0.13303|0.13303	.|.	0.440054|.	0.22301|.	N|.	0.061877|.	T|T	0.11239|0.11239	0.0274|0.0274	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999981|0.999981	B;B|B	0.20368|0.02656	0.026;0.044|0.0	B;B|B	0.20577|0.01281	0.03;0.024|0.0	T|T	0.32455|0.32455	-0.9906|-0.9906	9|8	0.28530|0.45353	T|T	0.3|0.12	-3.0742|-3.0742	0.5963|0.5963	0.00736|0.00736	0.3811:0.2412:0.22:0.1578|0.3811:0.2412:0.22:0.1578	.|.	46;64|34	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	M|A	64;16;64;64;64|34	ENSP00000245615:I64M;ENSP00000375634:I64M;ENSP00000388250:I64M|ENSP00000410503:S34A;ENSP00000344377:S34A	ENSP00000245615:I64M|ENSP00000344377:S34A	I|S	-|-	3|1	3|0	MBOAT7|MBOAT7	59383897|59383897	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	0.210000|0.210000	0.17455|0.17455	0.089000|0.089000	0.17243|0.17243	0.459000|0.459000	0.35465|0.35465	ATT|TCA		0.607	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		3	97	3	97	---	---	---	---
AGPAT3	56894	broad.mit.edu	37	21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	316					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			1	Substitution - Missense(1)	p.T316N(1)	prostate(1)	large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(946-948)aCc>aAc		1-acylglycerol-3-phosphate O-acyltransferase 3							127.0	114.0	119.0					21																	45400973		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45400973C>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.947C>A	21.37:g.45400973C>A	ENSP00000381140:p.Thr316Asn		Somatic				AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N	p.T316N	NM_001037553.1	NP_001032642.1	WXS	Illumina GAIIx	Phase_I	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	8	1439	+			316					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.947C>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599480	0.46318	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.93	4.93	0.64822	.	0.048823	0.85682	D	0.000000	D	0.82577	0.5067	M	0.72894	2.215	0.58432	D	0.999999	P;B	0.45902	0.868;0.071	P;B	0.48425	0.577;0.065	D	0.85158	0.0990	10	0.62326	D	0.03	-18.4501	18.1548	0.89687	0.0:1.0:0.0:0.0	.	336;316	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	N	316	ENSP00000291572:T316N;ENSP00000381138:T316N;ENSP00000332989:T316N;ENSP00000381140:T316N;ENSP00000381135:T316N;ENSP00000443510:T316N	ENSP00000291572:T316N	T	+	2	0	AGPAT3	44225401	1.000000	0.71417	0.893000	0.35052	0.405000	0.30901	4.494000	0.60347	2.286000	0.76751	0.467000	0.42956	ACC		0.552	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		4	121	4	121	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:42609419_42609427delCTAGTAAAC	ENST00000372899.1	+	17	2278_2286	c.2020_2028delCTAGTAAAC	c.(2020-2028)ctagtaaacdel	p.LVN674del	UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	674					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2020-2028)ctagtaaacdel		ubiquitin protein ligase E3 component n-recognin 2																																				SO:0001651	inframe_deletion	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42609419_42609427delCTAGTAAAC	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2020_2028delCTAGTAAAC	6.37:g.42609419_42609427delCTAGTAAAC	ENSP00000361990:p.Leu674_Asn676del		Somatic				UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	p.LVN674del	NM_015255.2	NP_056070.1	WXS	Illumina GAIIx	Phase_I	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		17	2278_2286	+	Colorectal(47;0.196)		674					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	In_Frame_Del	DEL	ENST00000372899.1	37	c.2020_2028delCTAGTAAAC	CCDS4870.1																																																																																				0.411	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		31	88	31	88	---	---	---	---
