#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		43.850190	-1	-1	80	80	NM_002067		14	43.912763	43.912763	17	0.451613	0	0	0	1	0	14	17	0.451613
FRMD7	90167	broad.mit.edu	37	X	131212668	131212668	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:131212668T>C	ENST00000298542.4	-	12	1552	c.1377A>G	c.(1375-1377)atA>atG	p.I459M	FRMD7_ENST00000370879.1_Missense_Mutation_p.I339M|FRMD7_ENST00000464296.1_Missense_Mutation_p.I444M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	459					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGCCAGAATATATGCTCATGT	0.453																																						ENST00000298542.4											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1375-1377)atA>atG	FERM domain containing 7						174.0	164.0	167.0					X																	131212668		2203	4300	6503	SO:0001583	missense	90167			regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212668T>C	AL161984	AL161984	CCDS35397.1	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694	ENSG00000165694	ENSG00000165694				8079	8079	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300628	300628	"""nystagmus 1, congenital"""	NYS, NYS1	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	2063919, 17013395	Standard	Standard	NM_194277	NM_194277		Approved	FLJ43346	uc004ewn.3	uc004ewn.3	Q6ZUT3	Q6ZUT3	OTTHUMG00000022421	OTTHUMG00000022421	ENST00000298542.4:c.1377A>G	X.37:g.131212668T>C	ENSP00000298542:p.Ile459Met		FRMD7_ENST00000464296.1_Missense_Mutation_p.I444M|FRMD7_ENST00000370879.1_Missense_Mutation_p.I339M	p.I459M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1552	-	Acute lymphoblastic leukemia(192;0.000127)		459		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1377A>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	0.220	-1.029676	0.02045	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85861	-2.04;-1.69;-1.81	5.39	1.34	0.21922	5.39	1.34	0.21922	.	0.716976	0.13440	N	0.387740	T	0.67344	0.2883	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.54748	-0.8247	10	0.44086	T	0.13	.	1.2566	0.01993	0.1252:0.2626:0.2007:0.4115	.	444;459	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	M	339;459;444	ENSP00000359916:I339M;ENSP00000298542:I459M;ENSP00000417996:I444M	ENSP00000298542:I459M	I	-	3	3	3	FRMD7	131040349	131040349	0.955000	0.32602	0.425000	0.26659	0.247000	0.25773	0.165000	0.16564	0.691000	0.31592	-0.360000	0.07572	ATA		0.453	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1		180.756382	-37	-37	186	186	NM_194277		57	183.030375	183.030375	97	0.370130	0	0	0	1	0	57	97	0.37013
DCDC2B	149069	broad.mit.edu	37	1	32677692	32677692	+	Silent	SNP	G	G	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:32677692G>A	ENST00000409358.1	+	4	417	c.417G>A	c.(415-417)ctG>ctA	p.L139L		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	139	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGGGGACCTGGTAAGTCCCC	0.567																																						ENST00000409358.1											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(415-417)ctG>ctA	doublecortin domain containing 2B						44.0	46.0	46.0					1																	32677692		1904	4116	6020	SO:0001819	synonymous_variant	149069			intracellular signal transduction			g.chr1:32677692G>A	BC128073	BC128073	CCDS44100.1	CCDS44100.1	1p35.1	2008-05-13			2008-05-13			ENSG00000222046	ENSG00000222046	ENSG00000222046	ENSG00000222046				32576	32576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001099434	NM_001099434		Approved		uc001bun.2	uc001bun.2	A2VCK2	A2VCK2	OTTHUMG00000005741	OTTHUMG00000005741	ENST00000409358.1:c.417G>A	1.37:g.32677692G>A				p.L139L	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			4	417	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	139	Doublecortin 2.	B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.417G>A	CCDS44100.1																																																																																									0.567	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1		6.685775	-7	-7	29	29	XM_940631		4	9.662737	9.662737	22	0.153846	0	0	0	1	0	4	22	0.153846
ITGB8	3696	broad.mit.edu	37	7	20421427	20421427	+	Silent	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr7:20421427T>C	ENST00000222573.4	+	6	1563	c.879T>C	c.(877-879)gaT>gaC	p.D293D	ITGB8_ENST00000537992.1_Silent_p.D158D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	293	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCGCTCTTGATAGCAAATTGG	0.428																																						ENST00000222573.4											0			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(877-879)gaT>gaC	integrin, beta 8						143.0	126.0	132.0					7																	20421427		2203	4300	6503	SO:0001819	synonymous_variant	3696			cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20421427T>C			CCDS5370.1	CCDS5370.1	7p15.3	2010-03-23			2010-03-23			ENSG00000105855	ENSG00000105855	ENSG00000105855	ENSG00000105855		"""Integrins"""	"""Integrins"""	6163	6163	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604160	604160								Standard	Standard	XM_005249751	XM_005249751		Approved		uc003suu.3	uc003suu.3	P26012	P26012	OTTHUMG00000023594	OTTHUMG00000023594	ENST00000222573.4:c.879T>C	7.37:g.20421427T>C			ITGB8_ENST00000537992.1_Silent_p.D158D	p.D293D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			6	1563	+				VWFA.	A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.879T>C	CCDS5370.1																																																																																									0.428	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3		23.284390	3	3	79	79	NM_002214		11	30.457791	30.457791	56	0.164179	0	0	0	1	0	11	56	0.164179
PCDHA2	56146	broad.mit.edu	37	5	140174912	140174912	+	Silent	SNP	G	G	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr5:140174912G>T	ENST00000526136.1	+	1	363	c.363G>T	c.(361-363)gtG>gtT	p.V121V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.V121V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.V121V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	121	Cadherin 1. {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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGAAGTGGAGGTGAAGG	0.547																																						ENST00000526136.1											0			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(361-363)gtG>gtT							101.0	111.0	107.0					5																	140174912		2203	4300	6503	SO:0001819	synonymous_variant	0						g.chr5:140174912G>T	AF152480	AF152480	CCDS54914.1, CCDS64269.1	CCDS54914.1, CCDS64269.1	5q31	2010-11-26			2010-11-26				ENSG00000204969		ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8668	8668	other	complex locus constituent	other	complex locus constituent	"""KIAA0345-like 12"""	"""KIAA0345-like 12"""	606308	606308						10380929	10380929	Standard	Standard	NM_018905	NM_018905		Approved				Q9Y5H9	Q9Y5H9			ENST00000526136.1:c.363G>T	5.37:g.140174912G>T			PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.V121V|PCDHA2_ENST00000520672.2_Silent_p.V121V|PCDHA1_ENST00000394633.3_Intron	p.V121V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	363	+					O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.363G>T	CCDS54914.1																																																																																									0.547	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		5.143067	8	8	168	168	NM_018905		11	23.240528	23.240528	101	0.098214	1	0	1.58986e-06	1	1.64875e-06	11	101	0.098214
PADI2	11240	broad.mit.edu	37	1	17395607	17395607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:17395607C>A	ENST00000375486.4	-	16	1993	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E528*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	644					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGTGGACTTCCCCCAGAAAT	0.612																																						ENST00000375486.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1930-1932)Gaa>Taa	peptidyl arginine deiminase, type II						111.0	102.0	105.0					1																	17395607		2203	4300	6503	SO:0001587	stop_gained	11240			peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395607C>A	AB030176	AB030176	CCDS177.1	CCDS177.1	1p35.2-p35.1	2008-02-05			2008-02-05			ENSG00000117115	ENSG00000117115	ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	"""Peptidyl arginine deiminases"""	18341	18341	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607935	607935						2768262	2768262	Standard	Standard	NM_007365	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	uc001baf.3	Q9Y2J8	Q9Y2J8	OTTHUMG00000002295	OTTHUMG00000002295	ENST00000375486.4:c.1930G>T	1.37:g.17395607C>A	ENSP00000364635:p.Glu644*		PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E528*	p.E644*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	1993	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	644		Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	ENST00000375486.4	37	c.1930G>T	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	39	7.423699	0.98275	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.4562	17.5705	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	X	644;528	.	ENSP00000364635:E644X	E	-	1	0	0	PADI2	17268194	17268194	1.000000	0.71417	0.921000	0.36526	0.900000	0.52787	7.513000	0.81739	2.494000	0.84150	0.655000	0.94253	GAA		0.612	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1		65.423026	-6	-6	97	97			23	66.046162	66.046162	36	0.389831	1	0	7.88262e-20	1	8.82854e-20	23	36	0.389831
ELTD1	64123	broad.mit.edu	37	1	79383680	79383680	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:79383680G>A	ENST00000370742.3	-	11	1580	c.1517C>T	c.(1516-1518)gCa>gTa	p.A506V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	506					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCACATCCATGCAAAAGCAGC	0.348																																						ENST00000370742.3											0			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1516-1518)gCa>gTa	EGF, latrophilin and seven transmembrane domain containing 1						132.0	125.0	127.0					1																	79383680		1884	4114	5998	SO:0001583	missense	64123			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383680G>A	AF192403	AF192403	CCDS41352.1	CCDS41352.1	1p33-p32	2014-08-08			2014-08-08			ENSG00000162618	ENSG00000162618	ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	"""-"", ""GPCR / Class B : Orphans"""	20822	20822	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11050079	11050079	Standard	Standard	NM_022159	NM_022159		Approved	ETL	uc001diq.4	uc001diq.4	Q9HBW9	Q9HBW9	OTTHUMG00000009738	OTTHUMG00000009738	ENST00000370742.3:c.1517C>T	1.37:g.79383680G>A	ENSP00000359778:p.Ala506Val			p.A506V	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1580	-			506		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1517C>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343919	0.95807	.	.	ENSG00000162618	ENST00000370742	T	0.43294	0.95	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.050733	0.85682	D	0.000000	T	0.48502	0.1503	M	0.67700	2.07	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.29274	-1.0017	9	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	506	Q9HBW9	ELTD1_HUMAN	V	506	ENSP00000359778:A506V	.	A	-	2	0	0	ELTD1	79156268	79156268	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GCA		0.348	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1		97.452591	-23	-23	98	98	NM_022159		33	98.564964	98.564964	54	0.379310	0	0	0	1	0	33	54	0.37931
SMC1A	8243	broad.mit.edu	37	X	53410065	53410065	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:53410065A>G	ENST00000322213.4	-	20	3210	c.3083T>C	c.(3082-3084)aTg>aCg	p.M1028T	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1028					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGCTTTTCCATGGCCTTCAT	0.507																																						ENST00000322213.4											0			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(3082-3084)aTg>aCg	structural maintenance of chromosomes 1A						119.0	90.0	100.0					X																	53410065		2203	4300	6503	SO:0001583	missense	8243			cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53410065A>G	S78271	S78271	CCDS14352.1, CCDS75985.1	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	"""Structural maintenance of chromosomes proteins"""	11111	11111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300040	300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	7757074	Standard	Standard	NM_006306	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	uc004dsg.3	Q14683	Q14683	OTTHUMG00000021614	OTTHUMG00000021614	ENST00000322213.4:c.3083T>C	X.37:g.53410065A>G	ENSP00000323421:p.Met1028Thr			p.M1028T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			20	3210	-			1028		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.3083T>C	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475957	0.44044	.	.	ENSG00000072501	ENST00000322213	T	0.76709	-1.04	5.36	5.36	0.76844	5.36	5.36	0.76844	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	L	0.55213	1.73	0.80722	D	1	B	0.21688	0.059	B	0.20184	0.028	T	0.71020	-0.4713	10	0.49607	T	0.09	.	13.367	0.60689	1.0:0.0:0.0:0.0	.	1028	Q14683	SMC1A_HUMAN	T	1028	ENSP00000323421:M1028T	ENSP00000323421:M1028T	M	-	2	0	0	SMC1A	53426790	53426790	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.346000	0.79347	1.798000	0.52647	0.430000	0.28490	ATG		0.507	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		45.548485	-7	-7	35	35	NM_006306		14	45.577411	45.577411	16	0.466667	0	0	0	1	0	14	16	0.466667
RHO	6010	broad.mit.edu	37	3	129249761	129249761	+	Missense_Mutation	SNP	G	G	A	rs104893774		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr3:129249761G>A	ENST00000296271.3	+	2	498	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	135			R -> G (in RP4). {ECO:0000269|PubMed:8317502}.|R -> L (in RP4).|R -> W (in RP4). {ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:8554077}.		G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GCCATCGAGCGGTACGTGGTG	0.622																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3											0			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22	GRCh37	CM920610|CM973324|CP910713	RHO	M|X	rs104893774	c.(403-405)cGg>cAg	rhodopsin						256.0	202.0	220.0					3																	129249761		2203	4300	6503	SO:0001583	missense	6010			protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129249761G>A	AB065668	AB065668	CCDS3063.1	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914	ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	"""GPCR / Class A : Opsin receptors"""	10012	10012	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	"""opsin 2, rod pigment"""	180380	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	2016091	Standard	Standard	NM_000539	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	uc003emt.3	P08100	P08100	OTTHUMG00000159542	OTTHUMG00000159542	ENST00000296271.3:c.404G>A	3.37:g.129249761G>A	ENSP00000296271:p.Arg135Gln			p.R135Q	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	2	498	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	135		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.404G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	36	5.758799	0.96898	.	.	ENSG00000163914	ENST00000296271	D	0.97161	-4.27	5.26	5.26	0.73747	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98270	1.0503	10	0.87932	D	0	.	18.8606	0.92270	0.0:0.0:1.0:0.0	.	135	P08100	OPSD_HUMAN	Q	135	ENSP00000296271:R135Q	ENSP00000296271:R135Q	R	+	2	0	0	RHO	130732451	130732451	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.863000	0.99569	2.448000	0.82819	0.462000	0.41574	CGG		0.622	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1		-22.008008	-45	-45	166	166	NM_000539		4	7.926643	7.926643	121	0.032000	0	0	0	1	0	4	121	0.032
DVL2	1856	broad.mit.edu	37	17	7133647	7133647	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:7133647C>T	ENST00000005340.5	-	3	649	c.367G>A	c.(367-369)Gag>Aag	p.E123K	DVL2_ENST00000575458.1_Missense_Mutation_p.E123K|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	123					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTGGTCCTCTCGGGTGGCAAA	0.617																																						ENST00000005340.5											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(367-369)Gag>Aag	dishevelled segment polarity protein 2						80.0	89.0	86.0					17																	7133647		2203	4300	6503	SO:0001583	missense	1856			canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7133647C>T	BC014844	BC014844	CCDS11091.1	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975	ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	"""Dishevelled homologs"""	3086	3086	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602151	602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""		"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	8662242	Standard	Standard	NM_004422	NM_004422		Approved		uc002gez.1	uc002gez.1	O14641	O14641	OTTHUMG00000102155	OTTHUMG00000102155	ENST00000005340.5:c.367G>A	17.37:g.7133647C>T	ENSP00000005340:p.Glu123Lys		DVL2_ENST00000575458.1_Missense_Mutation_p.E123K|DVL2_ENST00000574642.1_5'UTR	p.E123K	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			3	649	-			123		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.367G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884765	0.91814	.	.	ENSG00000004975	ENST00000005340	T	0.05319	3.46	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.76838	2.35	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;0.999;1.0;0.997	D;P;D;P	0.78314	0.972;0.89;0.991;0.833	T	0.00313	-1.1825	10	0.44086	T	0.13	-21.3078	14.4834	0.67599	0.0:1.0:0.0:0.0	.	30;123;123;123	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	K	123	ENSP00000005340:E123K	ENSP00000005340:E123K	E	-	1	0	0	DVL2	7074371	7074371	1.000000	0.71417	0.989000	0.46669	0.818000	0.46254	7.459000	0.80802	2.492000	0.84095	0.609000	0.83330	GAG		0.617	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2		83.448029	-13	-13	87	87	NM_004422		26	83.509854	83.509854	30	0.464286	0	0	0	1	0	26	30	0.464286
CA2	760	broad.mit.edu	37	8	86389348	86389348	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr8:86389348G>A	ENST00000285379.5	+	6	737		c.e6-1			NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II						angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CCTTGTTCTAGGGCAAGAGTG	0.502																																						ENST00000285379.5											0			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11	GRCh37	CS920730	CA2	S		c.e6-1	carbonic anhydrase II						222.0	188.0	200.0					8																	86389348		2203	4300	6503	SO:0001630	splice_region_variant	760			one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389348G>A	J03037	J03037	CCDS6239.1	CCDS6239.1	8q21.2	2012-10-02			2012-10-02			ENSG00000104267	ENSG00000104267	ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	"""Carbonic anhydrases"""	1373	1373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611492	611492						3107918	3107918	Standard	Standard	NM_000067	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	uc003ydk.2	P00918	P00918	OTTHUMG00000164944	OTTHUMG00000164944	ENST00000285379.5:c.508-1G>A	8.37:g.86389348G>A					NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			6	737	+					B2R7G8|Q6FI12|Q96ET9	Splice_Site	SNP	ENST00000285379.5	37		CCDS6239.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091146	0.36855	.	.	ENSG00000104267	ENST00000285379	.	.	.	5.09	5.09	0.68999	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8355	0.88694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CA2	86576600	86576600	1.000000	0.71417	0.945000	0.38365	0.013000	0.08279	9.773000	0.98989	2.531000	0.85337	0.555000	0.69702	.		0.502	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2		300.590150	15	15	128	128	NM_000067	Intron	90	302.697345	302.697345	53	0.629371	0	0	0	1	0	90	53	0.629371
DSCAM	1826	broad.mit.edu	37	21	42064866	42064866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr21:42064866A>T	ENST00000400454.1	-	3	855	c.378T>A	c.(376-378)taT>taA	p.Y126*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	126	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACGGACTGTATAGGGCTCCC	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1											0			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(376-378)taT>taA	Down syndrome cell adhesion molecule						109.0	107.0	108.0					21																	42064866		2023	4177	6200	SO:0001587	stop_gained	1826			cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42064866A>T	AF023449	AF023449	CCDS42929.1	CCDS42929.1	21q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000171587	ENSG00000171587	ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	3039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602523	602523						9426258	9426258	Standard	Standard	NM_001271534	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	uc002yyq.1	O60469	O60469	OTTHUMG00000086732	OTTHUMG00000086732	ENST00000400454.1:c.378T>A	21.37:g.42064866A>T	ENSP00000383303:p.Tyr126*			p.Y126*	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN			3	855	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	126	Ig-like C2-type 1.|Ig-like C2-type 2.	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.378T>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	43	9.994410	0.99313	.	.	ENSG00000171587	ENST00000400454	.	.	.	5.93	3.58	0.41010	5.93	3.58	0.41010	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4685	0.32971	0.7908:0.0:0.2092:0.0	.	.	.	.	X	126	.	ENSP00000383303:Y126X	Y	-	3	2	2	DSCAM	40986736	40986736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.917000	0.39996	0.504000	0.28082	0.533000	0.62120	TAT		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		34.045141	-16	-16	59	59	NM_001389		19	48.308229	48.308229	105	0.153226	0	0	0	1	0	19	105	0.153226
CD163	9332	broad.mit.edu	37	12	7649512	7649512	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr12:7649512G>C	ENST00000359156.4	-	5	1198	c.996C>G	c.(994-996)agC>agG	p.S332R	CD163_ENST00000432237.2_Missense_Mutation_p.S332R|CD163_ENST00000396620.3_Missense_Mutation_p.S332R|CD163_ENST00000541972.1_Missense_Mutation_p.S320R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	332	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCAAGAAACGCTGTCAAGCC	0.488																																						ENST00000359156.4											0			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(994-996)agC>agG	CD163 molecule						149.0	102.0	118.0					12																	7649512		2203	4300	6503	SO:0001583	missense	9332			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649512G>C	Z22968	Z22968	CCDS8578.1, CCDS53742.1	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575	ENSG00000177575	ENSG00000177575		"""CD molecules"""	"""CD molecules"""	1631	1631	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605545	605545	"""CD163 antigen"""		"""CD163 antigen"""			10403791, 8370408	10403791, 8370408	Standard	Standard	NM_004244	NM_004244		Approved	M130, MM130	uc001qsz.3	uc001qsz.3	Q86VB7	Q86VB7	OTTHUMG00000168353	OTTHUMG00000168353	ENST00000359156.4:c.996C>G	12.37:g.7649512G>C	ENSP00000352071:p.Ser332Arg		CD163_ENST00000396620.3_Missense_Mutation_p.S332R|CD163_ENST00000541972.1_Missense_Mutation_p.S320R|CD163_ENST00000432237.2_Missense_Mutation_p.S332R	p.S332R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			5	1198	-			332	SRCR 3.	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.996C>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974559	0.34848	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.03	-4.84	0.03151	5.03	-4.84	0.03151	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.110760	0.06454	N	0.728203	T	0.24431	0.0592	N	0.17872	0.535	0.09310	N	1	P;B;P	0.50819	0.939;0.003;0.939	P;B;P	0.51135	0.66;0.005;0.66	T	0.28650	-1.0037	10	0.33141	T	0.24	.	7.7812	0.29066	0.4294:0.0:0.4558:0.1147	.	332;332;332	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	332;320;332;332	ENSP00000352071:S332R;ENSP00000444071:S320R;ENSP00000379863:S332R;ENSP00000403885:S332R	ENSP00000352071:S332R	S	-	3	2	2	CD163	7540779	7540779	0.000000	0.05858	0.022000	0.16811	0.784000	0.44337	-2.057000	0.01395	-0.866000	0.04068	-0.415000	0.06103	AGC		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		82.483798	-13	-13	52	52	NM_004244, NM_203416		25	83.03241	83.032410	15	0.625000	0	0	0	1	0	25	15	0.625
MUSK	4593	broad.mit.edu	37	9	113449430	113449430	+	Silent	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr9:113449430T>C	ENST00000374448.4	+	3	374	c.240T>C	c.(238-240)aaT>aaC	p.N80N	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374439.1_5'Flank|MUSK_ENST00000189978.5_Silent_p.N80N|MUSK_ENST00000416899.2_Silent_p.N80N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	80	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCGGGAGAATGGGCAGCTCC	0.488																																						ENST00000416899.2											0			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(238-240)aaT>aaC	muscle, skeletal, receptor tyrosine kinase						161.0	164.0	163.0					9																	113449430		2009	4179	6188	SO:0001819	synonymous_variant	4593			transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113449430T>C	AF006464	AF006464	CCDS48005.1, CCDS75874.1	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			2013-01-29			ENSG00000030304	ENSG00000030304	ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	7525	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601296	601296						7546737	7546737	Standard	Standard	NM_005592	NM_005592		Approved		uc022blv.1	uc022blv.1	O15146	O15146	OTTHUMG00000020485	OTTHUMG00000020485	ENST00000374448.4:c.240T>C	9.37:g.113449430T>C			MUSK_ENST00000374448.4_Silent_p.N80N|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Silent_p.N80N	p.N80N			O15146	MUSK_HUMAN			3	366	+			80	Ig-like 1.	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.240T>C	CCDS48005.1																																																																																									0.488	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			8.144414	5	5	95	95			8	19.412045	19.412045	66	0.108108	0	0	0	1	0	8	66	0.108108
ST8SIA3	51046	broad.mit.edu	37	18	55024275	55024275	+	Missense_Mutation	SNP	G	G	A	rs201032971		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr18:55024275G>A	ENST00000324000.3	+	3	2468	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	145					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATAACTTCCGGTCACTTCTT	0.383																																						ENST00000324000.3											0			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(433-435)cGg>cAg	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	G	GLN/ARG	0,4406		0,0,2203	114.0	115.0	115.0		434	5.7	1.0	18		115	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ST8SIA3	NM_015879.2	43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	145/381	55024275	4,13002	2203	4300	6503	SO:0001583	missense	51046			glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024275G>A	AF004668	AF004668	CCDS32834.1	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	"""Sialyltransferases"""	14269	14269	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ST8Sia III"""	"""ST8Sia III"""	609478	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C				Standard	Standard	NM_015879	NM_015879		Approved		uc002lgn.3	uc002lgn.3	O43173	O43173	OTTHUMG00000180101	OTTHUMG00000180101	ENST00000324000.3:c.434G>A	18.37:g.55024275G>A	ENSP00000320431:p.Arg145Gln			p.R145Q	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	2468	+			145		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.434G>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415396	0.42817	0.0	4.65E-4	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.29655	1.56	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.051831	0.85682	D	0.000000	T	0.28699	0.0711	L	0.47716	1.5	0.49687	D	0.999819	P	0.48407	0.91	B	0.35470	0.203	T	0.09400	-1.0676	10	0.51188	T	0.08	-9.2619	19.5308	0.95228	0.0:0.0:1.0:0.0	.	145	O43173	SIA8C_HUMAN	Q	252;145	ENSP00000320431:R145Q	ENSP00000320431:R145Q	R	+	2	0	0	ST8SIA3	53175273	53175273	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.487000	0.60293	2.715000	0.92844	0.655000	0.94253	CGG		0.383	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1		79.330365	-15	-15	99	99	NM_015879		26	81.002892	81.002892	50	0.342105	0	0	0	1	0	26	50	0.342105
MCEE	84693	broad.mit.edu	37	2	71351503	71351503	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr2:71351503C>T	ENST00000244217.5	-	2	228	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	71					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTACCTGGGCCCCCAGAATA	0.478																																						ENST00000244217.5											0			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(211-213)Gcc>Acc	methylmalonyl CoA epimerase						97.0	102.0	100.0					2																	71351503		2203	4300	6503	SO:0001583	missense	84693			fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71351503C>T	AF364547	AF364547	CCDS1915.1	CCDS1915.1	2p13.3	2011-05-12			2011-05-12			ENSG00000124370	ENSG00000124370	ENSG00000124370	ENSG00000124370	5.1.99.1			16732	16732	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	"""glyoxalase domain containing 2"""	608419	608419						16697227, 16752391, 16843692	16697227, 16752391, 16843692	Standard	Standard	NM_032601	NM_032601		Approved	GLOD2	uc002shs.2	uc002shs.2	Q96PE7	Q96PE7	OTTHUMG00000129709	OTTHUMG00000129709	ENST00000244217.5:c.211G>A	2.37:g.71351503C>T	ENSP00000244217:p.Ala71Thr			p.A71T	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN			2	228	-			71		Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.211G>A	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341316	0.81911	.	.	ENSG00000124370	ENST00000413592;ENST00000244217	T;T	0.70631	-0.5;-0.07	5.33	5.33	0.75918	5.33	5.33	0.75918	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.049051	0.85682	D	0.000000	D	0.85414	0.5691	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86094	0.1552	10	0.48119	T	0.1	-21.6199	16.8888	0.86082	0.0:1.0:0.0:0.0	.	71	Q96PE7	MCEE_HUMAN	T	27;71	ENSP00000391140:A27T;ENSP00000244217:A71T	ENSP00000244217:A71T	A	-	1	0	0	MCEE	71205011	71205011	1.000000	0.71417	0.989000	0.46669	0.355000	0.29361	7.090000	0.76916	2.661000	0.90470	0.650000	0.86243	GCC		0.478	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3		81.352059	-20	-20	98	98	NM_032601		29	82.027984	82.027984	44	0.397260	0	0	0	1	0	29	44	0.39726
STAG1	10274	broad.mit.edu	37	3	136141361	136141361	+	Nonsense_Mutation	SNP	A	A	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr3:136141361A>C	ENST00000383202.2	-	19	2184	c.1928T>G	c.(1927-1929)tTa>tGa	p.L643*	STAG1_ENST00000434713.2_Nonsense_Mutation_p.L417*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.L643*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.L227*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	643					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACTGCATAAGATACTATA	0.388																																						ENST00000383202.2											0			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1927-1929)tTa>tGa	stromal antigen 1						140.0	140.0	140.0					3																	136141361		2203	4300	6503	SO:0001587	stop_gained	10274			cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141361A>C	Z75330	Z75330	CCDS3090.1	CCDS3090.1	3q22.2-q22.3	2011-08-12			2011-08-12			ENSG00000118007	ENSG00000118007	ENSG00000118007	ENSG00000118007				11354	11354	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604358	604358						9305759	9305759	Standard	Standard	XM_006713471	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	uc003era.1	Q8WVM7	Q8WVM7	OTTHUMG00000159798	OTTHUMG00000159798	ENST00000383202.2:c.1928T>G	3.37:g.136141361A>C	ENSP00000372689:p.Leu643*		STAG1_ENST00000536929.1_Nonsense_Mutation_p.L227*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.L417*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.L643*	p.L643*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			19	2184	-			643		O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	c.1928T>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072045	0.93950	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9214	0.79580	1.0:0.0:0.0:0.0	.	.	.	.	X	643;643;417;227	.	ENSP00000236698:L643X	L	-	2	0	0	STAG1	137624051	137624051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.156000	0.67533	0.524000	0.50904	TTA		0.388	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		19.389449	-53	-53	146	146	NM_005862		16	42.925789	42.925789	136	0.105263	0	0	0	1	0	16	136	0.105263
HSPA6	3310	broad.mit.edu	37	1	161495096	161495096	+	Silent	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:161495096T>C	ENST00000309758.4	+	1	1061	c.648T>C	c.(646-648)gcT>gcC	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.A216A(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCATTGACGCTGGTGTCTTTG	0.597																																						ENST00000309758.4											1	Substitution - coding silent(1)	endometrium(1)	endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(646-648)gcT>gcC	heat shock 70kDa protein 6 (HSP70B')						45.0	48.0	47.0					1																	161495096		2203	4300	6503	SO:0001819	synonymous_variant	3310			response to unfolded protein		ATP binding	g.chr1:161495096T>C			CCDS1231.1	CCDS1231.1	1q23.3	2011-09-02	2002-08-29		2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110	ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	"""Heat shock proteins / HSP70"""	5239	5239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			140555	140555	"""heat shock 70kD protein 6 (HSP70B')"""		"""heat shock 70kD protein 6 (HSP70B')"""			1346391	1346391	Standard	Standard	NM_002155	NM_002155		Approved		uc001gaq.3	uc001gaq.3	P17066	P17066	OTTHUMG00000034461	OTTHUMG00000034461	ENST00000309758.4:c.648T>C	1.37:g.161495096T>C			RP11-25K21.6_ENST00000537821.2_RNA	p.A216A	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1061	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		216		Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	c.648T>C	CCDS1231.1																																																																																									0.597	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1		3.672462	-2	-2	40	40	NM_002155		4	9.306377	9.306377	33	0.108108	0	0	0	1	0	4	33	0.108108
OR2B2	81697	broad.mit.edu	37	6	27879977	27879977	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr6:27879977C>A	ENST00000303324.2	-	1	197	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTCAGATTGCCAAAGATTGTC	0.398																																						ENST00000303324.2											0			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(121-123)Ggc>Tgc	olfactory receptor, family 2, subfamily B, member 2						103.0	102.0	103.0					6																	27879977		2203	4300	6503	SO:0001583	missense	81697			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879977C>A	Z98744	Z98744	CCDS4641.1	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131	ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	13966	13966	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9	"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9				Standard	Standard	NM_033057	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	uc011dkw.2	Q9GZK3	Q9GZK3	OTTHUMG00000014495	OTTHUMG00000014495	ENST00000303324.2:c.121G>T	6.37:g.27879977C>A	ENSP00000304419:p.Gly41Cys			p.G41C	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	197	-			41		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.121G>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268499	0.40095	.	.	ENSG00000168131	ENST00000303324	T	0.04454	3.62	4.37	4.37	0.52481	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	U	0.001263	T	0.26629	0.0651	H	0.98682	4.3	0.28609	N	0.908775	D	0.89917	1.0	D	0.74023	0.982	T	0.48502	-0.9030	10	0.87932	D	0	.	15.2222	0.73320	0.0:1.0:0.0:0.0	.	41	Q9GZK3	OR2B2_HUMAN	C	41	ENSP00000304419:G41C	ENSP00000304419:G41C	G	-	1	0	0	OR2B2	27987956	27987956	0.012000	0.17670	0.997000	0.53966	0.225000	0.24961	2.428000	0.44749	2.346000	0.79739	0.563000	0.77884	GGC		0.398	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		71.209905	-20	-20	55	55			26	75.273405	75.273405	67	0.279570	1	0	4.22769e-11	1	4.5529e-11	26	67	0.27957
SPECC1	92521	broad.mit.edu	37	17	20108455	20108455	+	Missense_Mutation	SNP	G	G	A	rs367591049		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:20108455G>A	ENST00000261503.5	+	4	1144	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	SPECC1_ENST00000395529.3_Missense_Mutation_p.V365I|SPECC1_ENST00000395527.4_Missense_Mutation_p.V365I|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.V284I|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395530.2_Missense_Mutation_p.V284I|SPECC1_ENST00000395525.3_Missense_Mutation_p.V284I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_5'Flank	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	365	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCCAAACAGCGTAAGTGAATT	0.473																																						ENST00000395530.2											0			breast(1)|large_intestine(3)|ovary(4)	8						c.(850-852)Gta>Ata	sperm antigen with calponin homology and coiled-coil domains 1	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	110.0	118.0	116.0		1093,850,850,1093	3.2	0.0	17		116	1,8599		0,1,4299	no	missense,missense,missense,missense	SPECC1	NM_152904.4,NM_001033555.2,NM_001033554.2,NM_001033553.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	365/791,284/988,284/710,365/1069	20108455	1,13005	2203	4300	6503	SO:0001583	missense	92521				nucleus		g.chr17:20108455G>A	AY816329, AB041533	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487	ENSG00000128487	ENSG00000128487				30615	30615	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793	608793						15602574, 18763323, 15087372	15602574, 18763323, 15087372	Standard	Standard	NM_001033553	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	uc002gwq.3	Q5M775	Q5M775	OTTHUMG00000179808	OTTHUMG00000179808	ENST00000261503.5:c.1093G>A	17.37:g.20108455G>A	ENSP00000261503:p.Val365Ile		SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.V284I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.V365I|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.V365I|SPECC1_ENST00000395527.4_Missense_Mutation_p.V365I|SPECC1_ENST00000395522.2_Missense_Mutation_p.V284I	p.V284I	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1058	+			365	Ser-rich.	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.850G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.106177	0.00356	0.0	1.16E-4	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.38	3.22	0.36961	5.38	3.22	0.36961	.	1.379630	0.04502	N	0.381470	T	0.03095	0.0091	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001	B;B;B;B;B	0.10450	0.001;0.002;0.005;0.003;0.001	T	0.41627	-0.9498	10	0.19590	T	0.45	-0.5243	6.0425	0.19742	0.3356:0.0:0.6644:0.0	.	365;284;284;365;365	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	I	365;365;365;284;284;284	ENSP00000261503:V365I;ENSP00000378900:V365I;ENSP00000378893:V284I;ENSP00000378896:V284I	ENSP00000261503:V365I	V	+	1	0	0	SPECC1	20049047	20049047	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.601000	0.36773	0.729000	0.32403	0.655000	0.94253	GTA		0.473	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		0.555028	-28	-28	92	92	NM_152904		7	16.696593	16.696593	82	0.078652	0	0	0	1	0	7	82	0.078652
SOX3	6658	broad.mit.edu	37	X	139586345	139586347	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:139586345_139586347delGGC	ENST00000370536.2	-	1	878_880	c.879_881delGCC	c.(877-882)ccgccc>ccc	p.293_294PP>P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	293	Poly-Pro.				central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					cggcagcgcgggcggcggcggcg	0.719																																						ENST00000370536.2											0			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(877-882)ccgccc>ccc	SRY (sex determining region Y)-box 3			7,1691		1,4,1,733,221						0.5	0.9			2	24,3539		2,8,12,1386,759	no	coding	SOX3	NM_005634.2		3,12,13,2119,980	A1A1,A1R,A1,RR,R		0.6736,0.4122,0.5892				31,5230				SO:0001651	inframe_deletion	6658			face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586345_139586347delGGC			CCDS14669.1	CCDS14669.1	Xq27.1	2013-10-17			2013-10-17			ENSG00000134595	ENSG00000134595	ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	"""SRY (sex determining region Y)-boxes"""	11199	11199	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			313430	313430	"""panhypopituitarism"""	PHP	"""panhypopituitarism"""	PHP		15800844	15800844	Standard	Standard	NM_005634	NM_005634		Approved		uc004fbd.1	uc004fbd.1	P41225	P41225	OTTHUMG00000022544	OTTHUMG00000022544	ENST00000370536.2:c.879_881delGCC	X.37:g.139586354_139586356delGGC	ENSP00000359567:p.Pro294del			p.293_294PP>P	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	878_880	-	Acute lymphoblastic leukemia(192;7.65e-05)		293	Poly-Pro.	P35714|Q5JWI3|Q9NP49	In_Frame_Del	DEL	ENST00000370536.2	37	c.879_881delGCC	CCDS14669.1																																																																																									0.719	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1	.	.	9	9	13	13			2			4	0.33						2	4	0.33
KIF7	374654	broad.mit.edu	37	15	90185583	90185583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr15:90185583delC	ENST00000394412.3	-	11	2321	c.2245delG	c.(2245-2247)gagfs	p.E749fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	749	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTCCTGCTCCAGCTCCCGG	0.667																																						ENST00000394412.3											0			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2245-2247)gagfs	kinesin family member 7						15.0	15.0	15.0					15																	90185583		2198	4298	6496	SO:0001589	frameshift_variant	374654			microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90185583delC	AY358384	AY358384	CCDS32325.2	CCDS32325.2	15q26.1	2011-06-02			2011-06-02			ENSG00000166813	ENSG00000166813	ENSG00000166813	ENSG00000166813		"""Kinesins"""	"""Kinesins"""	30497	30497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611254	611254						11416179, 15547730	11416179, 15547730	Standard	Standard	NM_198525	NM_198525		Approved	JBTS12	uc002bof.2	uc002bof.2	Q2M1P5	Q2M1P5	OTTHUMG00000157177	OTTHUMG00000157177	ENST00000394412.3:c.2245delG	15.37:g.90185583delC	ENSP00000377934:p.Glu749fs			p.E749fs	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		11	2321	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		749		Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Del	DEL	ENST00000394412.3	37	c.2245delG	CCDS32325.2																																																																																									0.667	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	.	.	8	8	15	15	NM_198525		2			4	0.33						2	4	0.33
TTC25	83538	broad.mit.edu	37	17	40107073	40107073	+	RNA	DEL	G	G	-			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:40107073delG	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGGAAAGGATGGTGCTGAGCA	0.587																																						ENST00000591658.1											0			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12							tetratricopeptide repeat domain 25						61.0	58.0	59.0					17																	40107073		2100	4212	6312			83538				cytoplasm	protein binding	g.chr17:40107073delG	AK055498	AK055498	CCDS74063.1	CCDS74063.1	17q21.2	2014-08-12			2014-08-12			ENSG00000204815	ENSG00000204815	ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	25280	25280	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006722129	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	uc002hyj.4	Q96NG3	Q96NG3	OTTHUMG00000175837	OTTHUMG00000175837		17.37:g.40107073delG							Q96NG3	TTC25_HUMAN			0	1213	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)			Q6NX40|Q6PJ04|Q9H0K5	RNA	DEL	ENST00000591658.1	37																																																																																											0.587	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	.	.	1	1	13	13	NM_031421		2			4	0.33						2	4	0.33
