#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y			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						DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000443333.1_Silent_p.Y351Y	p.Y351Y			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	0	0	0	0.001168	0	5	18				
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						p.A157V	NM_032444.2	NP_115820.2	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	0	0	0	0.001984	0	6	142				
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_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000595312.1_5'Flank			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						PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site				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	1	0	1.08611e-07	0.000978	1.3935e-07	12	158				
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_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_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						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	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	0	0	0	0.003080	0	6	174				
OR2G6	391211	broad.mit.edu	37	1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A	rs375204402		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.chr1:248685462G>A	ENST00000343414.4	+	1	547	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.R172H(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(514-516)cGc>cAc		olfactory receptor, family 2, subfamily G, member 6		G	HIS/ARG	1,4405		0,1,2202	100.0	89.0	93.0		515	-0.1	0.2	1		93	0,8600		0,0,4300	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	172/317	248685462	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685462G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.515G>A	1.37:g.248685462G>A	ENSP00000341291:p.Arg172His						p.R172H	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	547	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	172					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.515G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	0.686	-0.796343	0.02862	2.27E-4	0.0	ENSG00000188558	ENST00000343414	T	0.00107	8.72	3.68	-0.126	0.13515	GPCR, rhodopsin-like superfamily (1);	0.334216	0.21536	U	0.072969	T	0.00073	0.0002	N	0.11560	0.145	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.09037	-1.0693	10	0.22706	T	0.39	.	3.4306	0.07426	0.4969:0.0:0.3217:0.1814	.	172	Q5TZ20	OR2G6_HUMAN	H	172	ENSP00000341291:R172H	ENSP00000341291:R172H	R	+	2	0	OR2G6	246752085	0.000000	0.05858	0.158000	0.22627	0.255000	0.26057	0.009000	0.13219	-0.069000	0.12931	0.400000	0.26472	CGC		0.552	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	66	0	0	0	0.000248	0	4	66				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	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.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	69	0	0	0	0.008291	0	9	69				
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_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I	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					CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	p.N107I	NM_016511.2	NP_057595.2	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	0	0	0	0.000602	0	5	92				
CDH1	999	broad.mit.edu	37	16	68846165	68846165	+	Splice_Site	SNP	C	C	T	rs587782856		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.chr16:68846165C>T	ENST00000261769.5	+	8	1327	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	CDH1_ENST00000422392.2_Splice_Site_p.T379M|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		4	Substitution - Missense(2)|Unknown(1)|Deletion - In frame(1)	p.T379M(2)|p.S337_T379del(1)|p.?(1)	prostate(2)|stomach(1)|breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.e8+1		cadherin 1, type 1, E-cadherin (epithelial)							109.0	91.0	97.0					16																	68846165		2198	4300	6498	SO:0001630	splice_region_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68846165C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1137+1C>T	16.37:g.68846165C>T						CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR	p.T379_splice	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	8	1327	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	379			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	ENST00000261769.5	37	c.1137_splice	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126343	0.08931	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.61510	0.1;0.47	5.72	-4.73	0.03259	Cadherin (3);Cadherin-like (1);	0.860656	0.10032	N	0.724544	T	0.42607	0.1210	L	0.52011	1.625	0.09310	N	1	B;B	0.30033	0.266;0.031	B;B	0.20955	0.032;0.024	T	0.28933	-1.0028	10	0.51188	T	0.08	.	7.3914	0.26911	0.1951:0.2388:0.0:0.5661	.	379;379	Q9UII8;P12830	.;CADH1_HUMAN	M	379	ENSP00000261769:T379M;ENSP00000414946:T379M	ENSP00000261769:T379M	T	+	2	0	CDH1	67403666	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.046000	0.03525	-0.810000	0.04375	-1.130000	0.01982	ACG		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Missense_Mutation	6	65	0	0	0	0.001984	0	6	65				
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					BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S	p.P41S			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	0	0	0	0.003163	0	13	15				
LRP8	7804	broad.mit.edu	37	1	53728131	53728131	+	Silent	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.chr1:53728131G>A	ENST00000306052.6	-	11	1862	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000347547.2_Silent_p.N417N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	587					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N587N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGTGATTCCGTTGGGCCATT	0.537																																						ENST00000306052.6																			1	Substitution - coding silent(1)	p.N587N(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1759-1761)aaC>aaT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							180.0	174.0	176.0					1																	53728131		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728131G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1761C>T	1.37:g.53728131G>A						LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.N417N	p.N587N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1862	-			587					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1761C>T	CCDS578.1																																																																																				0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	206	0	0	0	0.001168	0	5	206				
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						p.L546Q	NM_006252.3	NP_006243.2	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	0	0	0	0.000602	0	4	142				
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	0				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						p.A599T	NM_015669.2	NP_056484.1	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	0	0	0	0.002299	0	20	62				
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_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26175S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000592600.1_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					TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.P26175S	NM_001267550.1	NP_001254479.1	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	0	0	0	0.001168	0	6	92				
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_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.Y33H|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						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron	p.Y33H	NM_145655.3	NP_663630.2	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	0	0	0	0.000602	0	4	156				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		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.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	68	0	0	0	0.004672	0	3	68				
DLGAP2	9228	broad.mit.edu	37	8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T	rs368030190		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.chr8:1626466C>T	ENST00000421627.2	+	9	2269	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622																																						ENST00000421627.2																			2	Substitution - Missense(2)	p.T756M(1)|p.T720M(1)	prostate(2)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2134-2136)aCg>aTg		discs, large (Drosophila) homolog-associated protein 2							58.0	66.0	64.0					8																	1626466		2127	4221	6348	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626466C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2135C>T	8.37:g.1626466C>T	ENSP00000400258:p.Thr712Met					DLGAP2_ENST00000524065.1_3'UTR	p.T712M	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2269	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	791					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2135C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.997|6.997	0.554083|0.554083	0.13374|0.13374	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.18338	.|2.22	5.19|5.19	-7.58|-7.58	0.01313|0.01313	.|.	.|0.241686	.|0.42294	.|N	.|0.000738	T|T	0.06005|0.06005	0.0156|0.0156	N|N	0.03608|0.03608	-0.345|-0.345	0.20196|0.20196	N|N	0.999924|0.999924	.|B;B	.|0.13594	.|0.008;0.003	.|B;B	.|0.15870	.|0.005;0.014	T|T	0.10683|0.10683	-1.0619|-1.0619	5|10	.|0.24483	.|T	.|0.36	-7.5861|-7.5861	15.5649|15.5649	0.76284|0.76284	0.0:0.5437:0.0:0.4563|0.0:0.5437:0.0:0.4563	.|.	.|777;791	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	715|743;712	.|ENSP00000400258:T712M	.|ENSP00000348366:T743M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613873|1613873	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.659000|0.659000	0.38960|0.38960	0.443000|0.443000	0.21644|0.21644	-2.466000|-2.466000	0.00533|0.00533	-1.418000|-1.418000	0.01112|0.01112	CGG|ACG		0.622	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		17	53	0	0	0	0.004007	0	17	53				
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				CHMP4A_ENST00000347519.6_Missense_Mutation_p.E41D|MDP1_ENST00000532557.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_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						TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	p.E41D	NM_014169.3	NP_054888.2				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	0	0	0	0.001168	0	6	50				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	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.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	86	0	0	0	0.000602	0	3	86				
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_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D424V			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					TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V	p.D424V			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	0	0	0	0.001168	0	5	157				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514946	95514946	+	RNA	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.chr2:95514946C>T	ENST00000432432.2	-	0	711				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)																																																0							g.chr2:95514946C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514946C>T								NR_040113.1						0	711	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	228	0	0	0	0.000602	0	4	228				
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_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R	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					EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R	p.L348R	NM_013447.2	NP_038475.2	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	0	0	0	0.000248	0	3	63				
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_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000276935.6_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					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R	p.C45R	NM_001040272.5	NP_001035362.3	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	0	0	0	0.008291	0	11	98				
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					FGA_ENST00000403106.3_Missense_Mutation_p.S577P	p.S577P	NM_000508.3	NP_000499.1	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	0	0	0	0.003330	0	25	82				
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					PREX2_ENST00000529398.1_3'UTR	p.K276N	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	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	0	0	0	0.002450	0	14	33				
KIAA1217	56243	broad.mit.edu	37	10	24508665	24508665	+	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.chr10:24508665C>T	ENST00000376454.3	+	2	211	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498																																						ENST00000376454.3																			1	Substitution - Missense(1)	p.R61C(1)	prostate(1)	breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(181-183)Cgc>Tgc		KIAA1217							72.0	70.0	71.0					10																	24508665		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508665C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.181C>T	10.37:g.24508665C>T	ENSP00000365637:p.Arg61Cys					KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C	p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	211	+			61					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.181C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857343	0.91433	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.77	5.77	0.91146	.	0.093558	0.39985	N	0.001204	T	0.75384	0.3842	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;0.999	T	0.76236	-0.3033	10	0.87932	D	0	.	19.9927	0.97374	0.0:1.0:0.0:0.0	.	61;61;61;61	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	C	61	ENSP00000365639:R61C;ENSP00000392625:R61C;ENSP00000365637:R61C;ENSP00000365635:R61C	ENSP00000365635:R61C	R	+	1	0	KIAA1217	24548671	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.386000	0.59620	2.745000	0.94114	0.655000	0.94253	CGC		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		12	57	0	0	0	0.001368	0	12	57				
TRIM51HP	440041	broad.mit.edu	37	11	55064978	55064978	+	RNA	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.chr11:55064978T>C	ENST00000526016.1	-	0	447					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GTTCTGGTGGTTTCCATGTTC	0.408																																						ENST00000526016.1																			0																																																			0							g.chr11:55064978T>C			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55064978T>C								NR_038174.2						0	447	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.408	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			12	36	0	0	0	0.001855	0	12	36				
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							p.L293L	NM_002615.5	NP_002606.3	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	0	0	0	0.000602	0	5	166				
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	0				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					PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	p.A600T	NM_018932.3	NP_061755.1	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	0	0	0	0.008291	0	7	234				
VAC14	55697	broad.mit.edu	37	16	70818709	70818709	+	Silent	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.chr16:70818709G>A	ENST00000261776.5	-	4	716	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	152					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.S152S(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502																																						ENST00000261776.5																			1	Substitution - coding silent(1)	p.S152S(1)	prostate(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(454-456)agC>agT		Vac14 homolog (S. cerevisiae)							108.0	116.0	113.0					16																	70818709		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818709G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.456C>T	16.37:g.70818709G>A							p.S152S	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			4	716	-		Ovarian(137;0.0699)	152					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.456C>T	CCDS10896.1																																																																																				0.502	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		8	165	0	0	0	0.004482	0	8	165				
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_ENST00000360617.3_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A	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					KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A	p.D182A			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	0	0	0	0.001984	0	6	175				
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	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.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468																																						ENST00000359682.2																			2	Substitution - Missense(2)	p.R234H(2)	prostate(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(700-702)cGt>cAt		olfactory receptor, family 2, subfamily M, member 2							175.0	154.0	161.0					1																	248343988		2203	4299	6502	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343988G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.701G>A	1.37:g.248343988G>A	ENSP00000352710:p.Arg234His						p.R234H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.701G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436111	0.12104	.	.	ENSG00000198601	ENST00000359682	T	0.00333	8.07	2.03	-0.0998	0.13623	GPCR, rhodopsin-like superfamily (1);	1.102670	0.07291	N	0.872436	T	0.00412	0.0013	M	0.83603	2.65	0.09310	N	1	B	0.21606	0.058	B	0.21708	0.036	T	0.38478	-0.9659	10	0.72032	D	0.01	.	10.5714	0.45202	0.1236:0.0:0.8764:0.0	.	234	Q96R28	OR2M2_HUMAN	H	234	ENSP00000352710:R234H	ENSP00000352710:R234H	R	+	2	0	OR2M2	246410611	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.169000	0.10834	-1.847000	0.00572	CGT		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		35	79	0	0	0	0.004289	0	35	79				
GNAS	2778	broad.mit.edu	37	20	57415470	57415470	+	Silent	SNP	C	C	T	rs373276011		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.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS_ENST00000371075.3_Silent_p.Y103Y			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		1	Substitution - coding silent(1)	p.Y103Y(1)	prostate(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(307-309)taC>taT		GNAS complex locus		C		2,4404	4.2+/-10.8	0,2,2201	79.0	81.0	80.0		309	4.2	1.0	20		80	0,8600		0,0,4300	no	coding-synonymous	GNAS	NM_016592.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		103/246	57415470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415470C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.309C>T	20.37:g.57415470C>T		TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y	p.Y103Y			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	698	+	all_lung(29;0.0104)		105					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.309C>T	CCDS13471.1																																																																																				0.627	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		32	91	0	0	0	0.002096	0	32	91				
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					LRRC43_ENST00000425921.1_5'UTR	p.P57S	NM_152759.4	NP_689972.3	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	0	0	0	0.004672	0	3	33				
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_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_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					CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S	p.R170S			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	0	0	0	0.001984	0	7	140				
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						p.R258G	NM_001004726.1	NP_001004726.1	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	0	0	0	0.000248	0	3	221				
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_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR	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					OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V	p.A213V			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	0	0	0	0.008361	0	32	80				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		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.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	59	0	0	0	0.004672	0	3	59				
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_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_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						GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site		NM_000162.3	NP_000153.1	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	0	0	0	0.000248	0	3	9				
ATP6V1F	9296	broad.mit.edu	37	7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	rs10958		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.chr7:128503029G>A	ENST00000249289.4	+	1	150	c.71G>A	c.(70-72)gGc>gAc	p.G24D	ATP6V1F_ENST00000492758.1_Missense_Mutation_p.G24D|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	24			G -> V (in dbSNP:rs10958).		ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.G24D(1)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000492758.1																			1	Substitution - Missense(1)	p.G24D(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(70-72)gGc>gAc		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							89.0	77.0	81.0					7																	128503029		2203	4300	6503	SO:0001583	missense	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128503029G>A	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.71G>A	7.37:g.128503029G>A	ENSP00000249289:p.Gly24Asp		OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D	p.G24D	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN			1	72	+			24		G -> V (in dbSNP:rs10958).			C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	c.71G>A	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343090	0.95783	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	D;T	0.84873	-1.91;-1.45	4.83	4.83	0.62350	.	0.051224	0.85682	D	0.000000	D	0.95417	0.8512	H	0.98351	4.21	0.80722	D	1	D	0.60160	0.987	D	0.68192	0.956	D	0.97415	1.0005	10	0.72032	D	0.01	-23.656	16.7528	0.85490	0.0:0.0:1.0:0.0	.	24	Q16864	VATF_HUMAN	D	24	ENSP00000249289:G24D;ENSP00000417378:G24D	ENSP00000249289:G24D	G	+	2	0	ATP6V1F	128290265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.716000	0.91420	2.235000	0.73313	0.478000	0.44815	GGC		0.582	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		4	99	0	0	0	0.000248	0	4	99				
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					TAOK1_ENST00000536202.1_Intron	p.N628H	NM_020791.2	NP_065842.1	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	0	0	0	0.001786	0	28	97				
GSTM5	2949	broad.mit.edu	37	1	110257972	110257972	+	Intron	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.chr1:110257972C>T	ENST00000256593.3	+	7	625				GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000369813.1_Missense_Mutation_p.T185M|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	gtattgagtacgggcttcatg	0.433																																						ENST00000369813.1																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(553-555)aCg>aTg		glutathione S-transferase mu 5	Glutathione(DB00143)																																			SO:0001627	intron_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110257972C>T	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.567+110C>T	1.37:g.110257972C>T						GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron	p.T185M			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	1459	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	0			GST C-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.554C>T	CCDS811.1	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113998	0.20795	.	.	ENSG00000134201	ENST00000369813	T	0.09350	2.99	3.76	-0.51	0.11973	.	.	.	.	.	T	0.01387	0.0045	.	.	.	0.09310	N	1	P	0.43633	0.813	B	0.27608	0.081	T	0.47812	-0.9088	7	.	.	.	.	6.6747	0.23087	0.0:0.5359:0.0:0.4641	.	185	Q5T8Q9	.	M	185	ENSP00000358828:T185M	.	T	+	2	0	GSTM5	110059495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-0.079000	0.12707	-0.224000	0.12420	ACG		0.433	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		6	6	0	0	0	0.001168	0	6	6				
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_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	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					UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G	p.E685G	NM_173167.2	NP_775259.1	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	0	0	0	0.000602	0	3	133				
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							p.P1414P	NM_032888.2	NP_116277.2	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	0	0	0	0.000248	0	3	89				
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_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_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					AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N	p.T316N	NM_001037553.1	NP_001032642.1	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	1	0	1.23904e-05	0.000602	1.56027e-05	4	121				
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_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR	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						TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	p.P164P	NM_005993.4	NP_005984.3	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	0	0	0	0.000248	0	4	297				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	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.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	48	0	0	0	0.000248	0	4	48				
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_ENST00000338624.6_Missense_Mutation_p.S34A|TSEN34_ENST00000429671.2_5'Flank|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M	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					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	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	0	0	0	0.004672	0	3	97				
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				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	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	0							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					HTR7P1_ENST00000535469.1_RNA								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	0	0	0	0.000248	0	3	13				
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																																						ENST00000368148.3																			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					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R	p.Q641R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2102	-	all_hematologic(112;0.0378)		641					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	0	0	0	0.003163	0	12	130				
PSPC1	55269	broad.mit.edu	37	13	20277328	20277328	+	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.chr13:20277328C>T	ENST00000338910.4	-	9	1718	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	520					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R520H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433																																						ENST00000338910.4																			1	Substitution - Missense(1)	p.R520H(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1558-1560)cGt>cAt		paraspeckle component 1							46.0	50.0	49.0					13																	20277328		1840	4088	5928	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20277328C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1559G>A	13.37:g.20277328C>T	ENSP00000343966:p.Arg520His						p.R520H	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	9	1718	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	520					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1559G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046708	0.75846	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.22743	1.94	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	N	0.24115	0.695	0.53005	D	0.999964	D	0.71674	0.998	D	0.69479	0.964	T	0.15723	-1.0427	10	0.87932	D	0	-5.0547	19.572	0.95425	0.0:1.0:0.0:0.0	.	520	Q8WXF1	PSPC1_HUMAN	H	520;460	ENSP00000343966:R520H	ENSP00000343966:R520H	R	-	2	0	PSPC1	19175328	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.912000	0.69948	2.631000	0.89168	0.484000	0.47621	CGT		0.433	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			7	81	0	0	0	0.006214	0	7	81				
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y			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						DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y	p.Y351Y			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	0	0	0	0.001168	0	5	18				
SLX4	84464	broad.mit.edu	37	16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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						p.A157V	NM_032444.2	NP_115820.2	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	0	0	0	0.001984	0	6	142				
PSG11	5680	broad.mit.edu	37	19	43519267	43519267	+	Splice_Site	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000595312.1_5'Flank			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						PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site				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	1	0	1.08611e-07	0.000978	1.3935e-07	12	158				
GFM2	84340	broad.mit.edu	37	5	74056731	74056731	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_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						GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L	p.L48L	NM_032380.3	NP_115756.2	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	0	0	0	0.003080	0	6	174				
OR2G6	391211	broad.mit.edu	37	1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A	rs375204402		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:248685462G>A	ENST00000343414.4	+	1	547	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.R172H(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(514-516)cGc>cAc		olfactory receptor, family 2, subfamily G, member 6		G	HIS/ARG	1,4405		0,1,2202	100.0	89.0	93.0		515	-0.1	0.2	1		93	0,8600		0,0,4300	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	172/317	248685462	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685462G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.515G>A	1.37:g.248685462G>A	ENSP00000341291:p.Arg172His						p.R172H	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	547	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	172					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.515G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	0.686	-0.796343	0.02862	2.27E-4	0.0	ENSG00000188558	ENST00000343414	T	0.00107	8.72	3.68	-0.126	0.13515	GPCR, rhodopsin-like superfamily (1);	0.334216	0.21536	U	0.072969	T	0.00073	0.0002	N	0.11560	0.145	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.09037	-1.0693	10	0.22706	T	0.39	.	3.4306	0.07426	0.4969:0.0:0.3217:0.1814	.	172	Q5TZ20	OR2G6_HUMAN	H	172	ENSP00000341291:R172H	ENSP00000341291:R172H	R	+	2	0	OR2G6	246752085	0.000000	0.05858	0.158000	0.22627	0.255000	0.26057	0.009000	0.13219	-0.069000	0.12931	0.400000	0.26472	CGC		0.552	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		4	66	0	0	0	0.000248	0	4	66				
CLEC1A	51267	broad.mit.edu	37	12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I	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					CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	p.N107I	NM_016511.2	NP_057595.2	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	0	0	0	0.000602	0	5	92				
AFF3	3899	broad.mit.edu	37	2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.A486T(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1381-1383)Gca>Aca		AF4/FMR2 family, member 3							124.0	137.0	133.0					2																	100210742		2058	4218	6276	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr					AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T	p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1616	-			461					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	AFF3	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	232	0	0	0	0.000602	0	4	232				
BRD9	65980	broad.mit.edu	37	5	889273	889273	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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					BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S	p.P41S			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	0	0	0	0.003163	0	13	15				
LRP8	7804	broad.mit.edu	37	1	53728131	53728131	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:53728131G>A	ENST00000306052.6	-	11	1862	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000347547.2_Silent_p.N417N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	587					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N587N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGTGATTCCGTTGGGCCATT	0.537																																						ENST00000306052.6																			1	Substitution - coding silent(1)	p.N587N(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1759-1761)aaC>aaT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							180.0	174.0	176.0					1																	53728131		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728131G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1761C>T	1.37:g.53728131G>A						LRP8_ENST00000347547.2_Silent_p.N417N|LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR	p.N587N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1862	-			587					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1761C>T	CCDS578.1																																																																																				0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	206	0	0	0	0.001168	0	5	206				
PRKAA2	5563	broad.mit.edu	37	1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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						p.L546Q	NM_006252.3	NP_006243.2	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	0	0	0	0.000602	0	4	142				
PCDHB5	26167	broad.mit.edu	37	5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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	0				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						p.A599T	NM_015669.2	NP_056484.1	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	0	0	0	0.002299	0	20	62				
TTN	7273	broad.mit.edu	37	2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:179432336G>A	ENST00000591111.1	-	276	73824	c.73600C>T	c.(73600-73602)Ccc>Tcc	p.P24534S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P26175S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000592600.1_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					TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.P26175S	NM_001267550.1	NP_001254479.1	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	0	0	0	0.001168	0	6	92				
GCNT2	2651	broad.mit.edu	37	6	10586319	10586319	+	Intron	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr6:10586319T>C	ENST00000379597.3	+	2	1481				GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.Y33H|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						GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	p.Y33H	NM_145655.3	NP_663630.2	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	0	0	0	0.000602	0	4	156				
DLGAP2	9228	broad.mit.edu	37	8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T	rs368030190		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr8:1626466C>T	ENST00000421627.2	+	9	2269	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622																																						ENST00000421627.2																			2	Substitution - Missense(2)	p.T756M(1)|p.T720M(1)	prostate(2)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2134-2136)aCg>aTg		discs, large (Drosophila) homolog-associated protein 2							58.0	66.0	64.0					8																	1626466		2127	4221	6348	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626466C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2135C>T	8.37:g.1626466C>T	ENSP00000400258:p.Thr712Met					DLGAP2_ENST00000524065.1_3'UTR	p.T712M	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2269	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	791					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2135C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.997|6.997	0.554083|0.554083	0.13374|0.13374	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.18338	.|2.22	5.19|5.19	-7.58|-7.58	0.01313|0.01313	.|.	.|0.241686	.|0.42294	.|N	.|0.000738	T|T	0.06005|0.06005	0.0156|0.0156	N|N	0.03608|0.03608	-0.345|-0.345	0.20196|0.20196	N|N	0.999924|0.999924	.|B;B	.|0.13594	.|0.008;0.003	.|B;B	.|0.15870	.|0.005;0.014	T|T	0.10683|0.10683	-1.0619|-1.0619	5|10	.|0.24483	.|T	.|0.36	-7.5861|-7.5861	15.5649|15.5649	0.76284|0.76284	0.0:0.5437:0.0:0.4563|0.0:0.5437:0.0:0.4563	.|.	.|777;791	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	715|743;712	.|ENSP00000400258:T712M	.|ENSP00000348366:T743M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1613873|1613873	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.659000|0.659000	0.38960|0.38960	0.443000|0.443000	0.21644|0.21644	-2.466000|-2.466000	0.00533|0.00533	-1.418000|-1.418000	0.01112|0.01112	CGG|ACG		0.622	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		17	53	0	0	0	0.004007	0	17	53				
CHMP4A	29082	broad.mit.edu	37	14	24682652	24682652	+	5'UTR	SNP	C	C	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr14:24682652C>G	ENST00000609024.1	-	0	42				CHMP4A_ENST00000347519.6_Missense_Mutation_p.E41D|MDP1_ENST00000532557.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'UTR|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'UTR|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_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						TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	p.E41D	NM_014169.3	NP_054888.2				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	0	0	0	0.001168	0	6	50				
CDH1	999	broad.mit.edu	37	16	68846165	68846165	+	Splice_Site	SNP	C	C	T	rs587782856		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr16:68846165C>T	ENST00000261769.5	+	8	1327	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	CDH1_ENST00000422392.2_Splice_Site_p.T379M|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		4	Substitution - Missense(2)|Unknown(1)|Deletion - In frame(1)	p.T379M(2)|p.S337_T379del(1)|p.?(1)	prostate(2)|stomach(1)|breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.e8+1		cadherin 1, type 1, E-cadherin (epithelial)							109.0	91.0	97.0					16																	68846165		2198	4300	6498	SO:0001630	splice_region_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68846165C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1137+1C>T	16.37:g.68846165C>T						CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR	p.T379_splice	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	8	1327	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	379			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	ENST00000261769.5	37	c.1137_splice	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	4.680	0.126343	0.08931	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.61510	0.1;0.47	5.72	-4.73	0.03259	Cadherin (3);Cadherin-like (1);	0.860656	0.10032	N	0.724544	T	0.42607	0.1210	L	0.52011	1.625	0.09310	N	1	B;B	0.30033	0.266;0.031	B;B	0.20955	0.032;0.024	T	0.28933	-1.0028	10	0.51188	T	0.08	.	7.3914	0.26911	0.1951:0.2388:0.0:0.5661	.	379;379	Q9UII8;P12830	.;CADH1_HUMAN	M	379	ENSP00000261769:T379M;ENSP00000414946:T379M	ENSP00000261769:T379M	T	+	2	0	CDH1	67403666	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.046000	0.03525	-0.810000	0.04375	-1.130000	0.01982	ACG		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Missense_Mutation	6	65	0	0	0	0.001984	0	6	65				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	68	0	0	0	0.000248	0	3	68				
TKT	7086	broad.mit.edu	37	3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D424V			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					TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.D377V	p.D424V			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	0	0	0	0.001168	0	5	157				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:95514946C>T	ENST00000432432.2	-	0	711				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)																																																0							g.chr2:95514946C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514946C>T								NR_040113.1						0	711	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	228	0	0	0	0.000602	0	4	228				
EMR2	30817	broad.mit.edu	37	19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R	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					EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R	p.L348R	NM_013447.2	NP_038475.2	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	0	0	0	0.000248	0	3	63				
ADAMTSL1	92949	broad.mit.edu	37	9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000276935.6_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					ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R	p.C45R	NM_001040272.5	NP_001035362.3	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	0	0	0	0.008291	0	11	98				
FGA	2243	broad.mit.edu	37	4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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					FGA_ENST00000403106.3_Missense_Mutation_p.S577P	p.S577P	NM_000508.3	NP_000499.1	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	0	0	0	0.003330	0	25	82				
PREX2	80243	broad.mit.edu	37	8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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					PREX2_ENST00000529398.1_3'UTR	p.K276N	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	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	0	0	0	0.002450	0	14	33				
PSPC1	55269	broad.mit.edu	37	13	20277328	20277328	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr13:20277328C>T	ENST00000338910.4	-	9	1718	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	520					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R520H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433																																						ENST00000338910.4																			1	Substitution - Missense(1)	p.R520H(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1558-1560)cGt>cAt		paraspeckle component 1							46.0	50.0	49.0					13																	20277328		1840	4088	5928	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20277328C>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1559G>A	13.37:g.20277328C>T	ENSP00000343966:p.Arg520His						p.R520H	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	9	1718	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	520					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.1559G>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046708	0.75846	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.22743	1.94	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	N	0.24115	0.695	0.53005	D	0.999964	D	0.71674	0.998	D	0.69479	0.964	T	0.15723	-1.0427	10	0.87932	D	0	-5.0547	19.572	0.95425	0.0:1.0:0.0:0.0	.	520	Q8WXF1	PSPC1_HUMAN	H	520;460	ENSP00000343966:R520H	ENSP00000343966:R520H	R	-	2	0	PSPC1	19175328	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.912000	0.69948	2.631000	0.89168	0.484000	0.47621	CGT		0.433	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			7	81	0	0	0	0.006214	0	7	81				
KIAA1217	56243	broad.mit.edu	37	10	24508665	24508665	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr10:24508665C>T	ENST00000376454.3	+	2	211	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498																																						ENST00000376454.3																			1	Substitution - Missense(1)	p.R61C(1)	prostate(1)	breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(181-183)Cgc>Tgc		KIAA1217							72.0	70.0	71.0					10																	24508665		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508665C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.181C>T	10.37:g.24508665C>T	ENSP00000365637:p.Arg61Cys					KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000376462.1_5'UTR	p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	211	+			61					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.181C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857343	0.91433	.	.	ENSG00000120549	ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.77	5.77	0.91146	.	0.093558	0.39985	N	0.001204	T	0.75384	0.3842	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;0.999	T	0.76236	-0.3033	10	0.87932	D	0	.	19.9927	0.97374	0.0:1.0:0.0:0.0	.	61;61;61;61	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	C	61	ENSP00000365639:R61C;ENSP00000392625:R61C;ENSP00000365637:R61C;ENSP00000365635:R61C	ENSP00000365635:R61C	R	+	1	0	KIAA1217	24548671	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.386000	0.59620	2.745000	0.94114	0.655000	0.94253	CGC		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		12	57	0	0	0	0.001368	0	12	57				
TRIM51HP	440041	broad.mit.edu	37	11	55064978	55064978	+	RNA	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr11:55064978T>C	ENST00000526016.1	-	0	447					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GTTCTGGTGGTTTCCATGTTC	0.408																																						ENST00000526016.1																			0																																																			0							g.chr11:55064978T>C			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55064978T>C								NR_038174.2						0	447	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.408	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			12	36	0	0	0	0.001855	0	12	36				
SERPINF1	5176	broad.mit.edu	37	17	1679918	1679918	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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							p.L293L	NM_002615.5	NP_002606.3	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	0	0	0	0.000602	0	5	166				
PCDHB12	56124	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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	0				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					PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	p.A600T	NM_018932.3	NP_061755.1	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	0	0	0	0.008291	0	7	234				
VAC14	55697	broad.mit.edu	37	16	70818709	70818709	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr16:70818709G>A	ENST00000261776.5	-	4	716	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	152					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.S152S(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502																																						ENST00000261776.5																			1	Substitution - coding silent(1)	p.S152S(1)	prostate(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(454-456)agC>agT		Vac14 homolog (S. cerevisiae)							108.0	116.0	113.0					16																	70818709		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818709G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.456C>T	16.37:g.70818709G>A							p.S152S	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			4	716	-		Ovarian(137;0.0699)	152					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.456C>T	CCDS10896.1																																																																																				0.502	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		8	165	0	0	0	0.004482	0	8	165				
KLK3	354	broad.mit.edu	37	19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:51361766A>C	ENST00000326003.2	+	4	586	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000360617.3_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A	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					KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A	p.D182A			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	0	0	0	0.001984	0	6	175				
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468																																						ENST00000359682.2																			2	Substitution - Missense(2)	p.R234H(2)	prostate(1)|kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(700-702)cGt>cAt		olfactory receptor, family 2, subfamily M, member 2							175.0	154.0	161.0					1																	248343988		2203	4299	6502	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343988G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.701G>A	1.37:g.248343988G>A	ENSP00000352710:p.Arg234His						p.R234H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.701G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	6.369	0.436111	0.12104	.	.	ENSG00000198601	ENST00000359682	T	0.00333	8.07	2.03	-0.0998	0.13623	GPCR, rhodopsin-like superfamily (1);	1.102670	0.07291	N	0.872436	T	0.00412	0.0013	M	0.83603	2.65	0.09310	N	1	B	0.21606	0.058	B	0.21708	0.036	T	0.38478	-0.9659	10	0.72032	D	0.01	.	10.5714	0.45202	0.1236:0.0:0.8764:0.0	.	234	Q96R28	OR2M2_HUMAN	H	234	ENSP00000352710:R234H	ENSP00000352710:R234H	R	+	2	0	OR2M2	246410611	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.047000	0.30367	-0.169000	0.10834	-1.847000	0.00572	CGT		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		35	79	0	0	0	0.004289	0	35	79				
GNAS	2778	broad.mit.edu	37	20	57415470	57415470	+	Silent	SNP	C	C	T	rs373276011		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS_ENST00000371075.3_Silent_p.Y103Y			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		1	Substitution - coding silent(1)	p.Y103Y(1)	prostate(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(307-309)taC>taT		GNAS complex locus		C		2,4404	4.2+/-10.8	0,2,2201	79.0	81.0	80.0		309	4.2	1.0	20		80	0,8600		0,0,4300	no	coding-synonymous	GNAS	NM_016592.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		103/246	57415470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415470C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.309C>T	20.37:g.57415470C>T		TSP Lung(22;0.16)				GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA	p.Y103Y			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	698	+	all_lung(29;0.0104)		105					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.309C>T	CCDS13471.1																																																																																				0.627	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		32	91	0	0	0	0.002096	0	32	91				
LRRC43	254050	broad.mit.edu	37	12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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					LRRC43_ENST00000425921.1_5'UTR	p.P57S	NM_152759.4	NP_689972.3	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	0	0	0	0.004672	0	3	33				
CEP97	79598	broad.mit.edu	37	3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_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					CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S	p.R170S			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	0	0	0	0.001984	0	7	140				
OR4X1	390113	broad.mit.edu	37	11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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						p.R258G	NM_001004726.1	NP_001004726.1	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	0	0	0	0.000248	0	3	221				
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR	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					OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR	p.A213V			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	0	0	0	0.008361	0	32	80				
GCK	2645	broad.mit.edu	37	7	44185094	44185094	+	Splice_Site	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_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						GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000345378.2_Splice_Site		NM_000162.3	NP_000153.1	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	0	0	0	0.000248	0	3	9				
ATP6V1F	9296	broad.mit.edu	37	7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	rs10958		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr7:128503029G>A	ENST00000249289.4	+	1	150	c.71G>A	c.(70-72)gGc>gAc	p.G24D	ATP6V1F_ENST00000492758.1_Missense_Mutation_p.G24D|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	24			G -> V (in dbSNP:rs10958).		ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.G24D(1)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000492758.1																			1	Substitution - Missense(1)	p.G24D(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(70-72)gGc>gAc		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							89.0	77.0	81.0					7																	128503029		2203	4300	6503	SO:0001583	missense	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128503029G>A	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.71G>A	7.37:g.128503029G>A	ENSP00000249289:p.Gly24Asp		OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D	p.G24D	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN			1	72	+			24		G -> V (in dbSNP:rs10958).			C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	c.71G>A	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343090	0.95783	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	D;T	0.84873	-1.91;-1.45	4.83	4.83	0.62350	.	0.051224	0.85682	D	0.000000	D	0.95417	0.8512	H	0.98351	4.21	0.80722	D	1	D	0.60160	0.987	D	0.68192	0.956	D	0.97415	1.0005	10	0.72032	D	0.01	-23.656	16.7528	0.85490	0.0:0.0:1.0:0.0	.	24	Q16864	VATF_HUMAN	D	24	ENSP00000249289:G24D;ENSP00000417378:G24D	ENSP00000249289:G24D	G	+	2	0	ATP6V1F	128290265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.716000	0.91420	2.235000	0.73313	0.478000	0.44815	GGC		0.582	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		4	99	0	0	0	0.000248	0	4	99				
TAOK1	57551	broad.mit.edu	37	17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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					TAOK1_ENST00000536202.1_Intron	p.N628H	NM_020791.2	NP_065842.1	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	0	0	0	0.001786	0	28	97				
GSTM5	2949	broad.mit.edu	37	1	110257972	110257972	+	Intron	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:110257972C>T	ENST00000256593.3	+	7	625				GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000369813.1_Missense_Mutation_p.T185M|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	gtattgagtacgggcttcatg	0.433																																						ENST00000369813.1																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(553-555)aCg>aTg		glutathione S-transferase mu 5	Glutathione(DB00143)																																			SO:0001627	intron_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110257972C>T	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.567+110C>T	1.37:g.110257972C>T						GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron	p.T185M			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	1459	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	0			GST C-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.554C>T	CCDS811.1	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113998	0.20795	.	.	ENSG00000134201	ENST00000369813	T	0.09350	2.99	3.76	-0.51	0.11973	.	.	.	.	.	T	0.01387	0.0045	.	.	.	0.09310	N	1	P	0.43633	0.813	B	0.27608	0.081	T	0.47812	-0.9088	7	.	.	.	.	6.6747	0.23087	0.0:0.5359:0.0:0.4641	.	185	Q5T8Q9	.	M	185	ENSP00000358828:T185M	.	T	+	2	0	GSTM5	110059495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-0.079000	0.12707	-0.224000	0.12420	ACG		0.433	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		6	6	0	0	0	0.001168	0	6	6				
UNC45B	146862	broad.mit.edu	37	17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	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					UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G	p.E685G	NM_173167.2	NP_775259.1	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	0	0	0	0.000602	0	3	133				
COL27A1	85301	broad.mit.edu	37	9	117052373	117052373	+	Silent	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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							p.P1414P	NM_032888.2	NP_116277.2	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	0	0	0	0.000248	0	3	89				
AGPAT3	56894	broad.mit.edu	37	21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_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					AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N	p.T316N	NM_001037553.1	NP_001032642.1	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	1	0	1.23904e-05	0.000602	1.56027e-05	4	121				
TBCD	6904	broad.mit.edu	37	17	80726352	80726352	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR	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						TBCD_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR	p.P164P	NM_005993.4	NP_005984.3	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	0	0	0	0.000248	0	4	297				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	48	0	0	0	0.000248	0	4	48				
MBOAT7	79143	broad.mit.edu	37	19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|TSEN34_ENST00000429671.2_5'Flank|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M	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					MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A	p.I64M	NM_024298.3	NP_077274.3	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	0	0	0	0.004672	0	3	97				
HEBP1	50865	broad.mit.edu	37	12	13155157	13155157	+	5'Flank	SNP	T	T	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr12:13155157T>G	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	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	0							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					HTR7P1_ENST00000535469.1_RNA								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	0	0	0	0.000248	0	3	13				
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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																																						ENST00000368148.3																			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					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R	p.Q641R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2102	-	all_hematologic(112;0.0378)		641					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	0	0	0	0.003163	0	12	130				
EOMES	8320	broad.mit.edu	37	3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-			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.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gccgcg>gcg	p.126_127AA>A	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.126_127AA>A			O95936	EOMES_HUMAN	eomesodermin	126	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(376-381)gcg>gc		eomesodermin				85,33,494		40,0,5,13,7,241						-3.4	0.0		dbSNP_126	1	353,77,1382		157,0,39,28,21,661	no	codingComplex	EOMES	NM_005442.2		197,0,44,41,28,902	A1A1,A1A2,A1R,A2A2,A2R,RR		23.7307,19.281,22.6073				438,110,1876				SO:0001651	inframe_deletion	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763406_27763408delGCG	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380delCGC	3.37:g.27763415_27763417delGCG	ENSP00000295743:p.Ala130del					EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del|EOMES_ENST00000461503.1_Intron	p.AA128del			O95936	EOMES_HUMAN			1	581_583	-			128			Ala-rich.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Del	DEL	ENST00000295743.4	37	c.378_380delCGC	CCDS2646.1																																																																																				0.778	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	4						2	4	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48688391	48688391	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:48688391C>A	ENST00000164024.4	-	15	6584	c.6304G>T	c.(6304-6306)Gcc>Tcc	p.A2102S	CELSR3_ENST00000544264.1_Missense_Mutation_p.A2102S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2102	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCCAAGGGCTCCTGGGCGA	0.677																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6304-6306)Gcc>Tcc		cadherin, EGF LAG seven-pass G-type receptor 3							37.0	41.0	40.0					3																	48688391		2197	4296	6493	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48688391C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6304G>T	3.37:g.48688391C>A	ENSP00000164024:p.Ala2102Ser					CELSR3_ENST00000164024.4_Missense_Mutation_p.A2102S	p.A2102S			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	15	6584	-			2102			Laminin EGF-like.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6304G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987169	0.74589	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.61742	0.08;0.08	5.14	5.14	0.70334	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.62502	0.2433	L	0.35723	1.085	0.48135	D	0.999597	P;P	0.51537	0.853;0.946	P;P	0.53146	0.464;0.719	T	0.64765	-0.6330	9	0.56958	D	0.05	.	18.9822	0.92758	0.0:1.0:0.0:0.0	.	2102;2172	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	2102	ENSP00000164024:A2102S;ENSP00000445694:A2102S	ENSP00000164024:A2102S	A	-	1	0	CELSR3	48663395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.567000	0.86603	0.655000	0.94253	GCC		0.677	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		6	77	1	0	3.59834e-05	0.001168	4.44885e-05	6	77				
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	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.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			0							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		2	4						2	4	---	---	---	---
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)del		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					UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del|UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del	p.LVN674del	NM_015255.2	NP_056070.1	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	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	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.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			3	5						3	5	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	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.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		7	167						7	167	---	---	---	---
TPM3P9	147804	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555|rs398101275	byFrequency	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.chr19:53946133delA	ENST00000424846.3	+	0	1130				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TCATGTTGTGAAAAAAAAAAT	0.348													|||unknown(HR)	3191	0.637181	0.6241	0.6614	5008	,	,		21949	0.4008		0.7127	False		,,,				2504	0.8037					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53946133delA			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53946133delA						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	DEL	ENST00000424846.3	37																																																																																						0.348	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		3	4						3	4	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	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)del		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					UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	p.LVN674del	NM_015255.2	NP_056070.1	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	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		7	167						7	167	---	---	---	---
RP11-464F9.1	0	broad.mit.edu	37	10	75486922	75486923	+	RNA	INS	-	-	A	rs11387949|rs397749653	byFrequency	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr10:75486922_75486923insA	ENST00000399449.3	-	0	427				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							GCTAACTTAGTAAAGTATAAGA	0.386													|||unknown(NO_COVERAGE)	2495	0.498203	0.4939	0.4769	5008	,	,		22389	0.2778		0.7594	False		,,,				2504	0.4775					ENST00000399449.3																			0																																																			0							g.chr10:75486922_75486923insA																													10.37:g.75486925_75486925dupA						BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA								0	427	-									RNA	INS	ENST00000399449.3	37																																																																																						0.386	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000048674.2			4	4						4	4	---	---	---	---
