#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
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	161	0	0	0	1	0	4	161				
C9orf3	84909	broad.mit.edu	37	9	97843033	97843033	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:97843033A>G	ENST00000375315.2	+	14	2290	c.2290A>G	c.(2290-2292)Agt>Ggt	p.S764G	C9orf3_ENST00000433691.2_Missense_Mutation_p.S105G|C9orf3_ENST00000425634.2_Missense_Mutation_p.S126G|C9orf3_ENST00000297979.5_Missense_Mutation_p.S665G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	764					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCCTACAAAAGTGTGGAGAG	0.512																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2290-2292)Agt>Ggt		chromosome 9 open reading frame 3							167.0	146.0	153.0					9																	97843033		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97843033A>G	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2290A>G	9.37:g.97843033A>G	ENSP00000364464:p.Ser764Gly					C9orf3_ENST00000297979.5_Missense_Mutation_p.S665G|C9orf3_ENST00000433691.2_Missense_Mutation_p.S105G|C9orf3_ENST00000425634.2_Missense_Mutation_p.S126G	p.S764G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2290	+			764					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2290A>G	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.88|12.88	2.069963|2.069963	0.36566|0.36566	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000445181|ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	T|T;T;T;T;T;T	0.43294|0.43294	0.95|0.95;0.95;0.95;0.95;0.95;0.95	5.57|5.57	-2.53|-2.53	0.06326|0.06326	.|Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	.|0.565185	.|0.19234	.|N	.|0.119332	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.27932	.|0.194;0.194;0.064;0.022;0.113	.|B;B;B;B;B	.|0.29663	.|0.073;0.105;0.034;0.009;0.033	T|T	0.22836|0.22836	-1.0205|-1.0205	7|10	0.15066|0.23302	T|T	0.55|0.38	7.9333|7.9333	9.2386|9.2386	0.37481|0.37481	0.2207:0.3203:0.459:0.0|0.2207:0.3203:0.459:0.0	.|.	.|105;126;764;665;665	.|B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.|.;.;AMPO_HUMAN;.;.	R|G	128|665;764;488;546;126;105;128	ENSP00000413927:K128R|ENSP00000297979:S665G;ENSP00000364464:S764G;ENSP00000402171:S488G;ENSP00000401854:S546G;ENSP00000411815:S126G;ENSP00000399365:S105G	ENSP00000413927:K128R|ENSP00000297979:S665G	K|S	+|+	2|1	0|0	C9orf3|C9orf3	96882854|96882854	0.785000|0.785000	0.28726|0.28726	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	1.718000|1.718000	0.38001|0.38001	-0.527000|-0.527000	0.06374|0.06374	0.454000|0.454000	0.30748|0.30748	AAG|AGT		0.512	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		24	65	0	0	0	1	0	24	65				
KIF12	113220	broad.mit.edu	37	9	116858369	116858369	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:116858369A>G	ENST00000374118.3	-	6	680	c.443T>C	c.(442-444)cTt>cCt	p.L148P	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	281	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTTAGCCTCAAGCATCAGCTC	0.627																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(442-444)cTt>cCt		kinesin family member 12							56.0	62.0	60.0					9																	116858369		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116858369A>G	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.443T>C	9.37:g.116858369A>G	ENSP00000363232:p.Leu148Pro					KIF12_ENST00000473174.1_Intron	p.L148P	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			6	680	-			281			Kinesin-motor.		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.443T>C	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664394	0.47572	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.75050	-0.9	5.69	3.27	0.37495	Kinesin, motor domain (4);	0.270973	0.26851	N	0.022170	T	0.75946	0.3919	L	0.46819	1.47	0.51012	D	0.999903	D	0.58970	0.984	P	0.61132	0.884	T	0.73401	-0.3994	10	0.66056	D	0.02	.	5.2892	0.15717	0.7608:0.0:0.0841:0.1551	.	281	Q96FN5	KIF12_HUMAN	P	148;281	ENSP00000363232:L148P	ENSP00000259410:L281P	L	-	2	0	KIF12	115898190	0.189000	0.23263	0.444000	0.26895	0.931000	0.56810	1.042000	0.30303	0.396000	0.25283	0.528000	0.53228	CTT		0.627	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		6	116	0	0	0	1	0	6	116				
ELK3	2004	broad.mit.edu	37	12	96641092	96641092	+	Silent	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:96641092C>T	ENST00000228741.3	+	3	908	c.582C>T	c.(580-582)gtC>gtT	p.V194V	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	194					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					ACAAGCACGTCACCAGGCCGG	0.607																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(580-582)gtC>gtT		ELK3, ETS-domain protein (SRF accessory protein 2)							77.0	79.0	78.0					12																	96641092		2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641092C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.582C>T	12.37:g.96641092C>T						ELK3_ENST00000552142.1_Intron	p.V194V	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	908	+	all_cancers(2;0.00173)		194					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.582C>T	CCDS9060.1																																																																																				0.607	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		7	76	0	0	0	1	0	7	76				
GLRA1	2741	broad.mit.edu	37	5	151239422	151239422	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:151239422C>T	ENST00000455880.2	-	4	686	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	GLRA1_ENST00000545569.1_Missense_Mutation_p.A51T|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Missense_Mutation_p.A134T			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	134					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGAAGTGGGCCCCCTTCTCG	0.522																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(400-402)Gcc>Acc		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						187.0	166.0	173.0					5																	151239422		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151239422C>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.400G>A	5.37:g.151239422C>T	ENSP00000411593:p.Ala134Thr					GLRA1_ENST00000455880.2_Missense_Mutation_p.A134T|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.A51T	p.A134T	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	692	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	134					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.400G>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571039	0.96553	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	T;T;T	0.79653	-1.29;-1.29;-1.29	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel ligand-binding (3);	0.103704	0.64402	D	0.000003	D	0.82765	0.5108	M	0.66378	2.025	0.80722	D	1	P;P;P	0.39551	0.529;0.678;0.473	B;B;B	0.41619	0.361;0.361;0.247	D	0.84453	0.0589	10	0.72032	D	0.01	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	134;51;134	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	T	134;134;51	ENSP00000274576:A134T;ENSP00000411593:A134T;ENSP00000445913:A51T	ENSP00000274576:A134T	A	-	1	0	GLRA1	151219615	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.616000	0.83018	2.746000	0.94184	0.655000	0.94253	GCC		0.522	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			25	64	0	0	0	1	0	25	64				
SLC4A2	6522	broad.mit.edu	37	7	150761318	150761318	+	Silent	SNP	G	G	A	rs142515597	byFrequency	TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr7:150761318G>A	ENST00000485713.1	+	3	1121	c.81G>A	c.(79-81)acG>acA	p.T27T	SLC4A2_ENST00000461735.1_Silent_p.T13T|SLC4A2_ENST00000413384.2_Silent_p.T27T|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Silent_p.T18T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	27	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCTGGGACGCCTGGGTTCC	0.622													G|||	6	0.00119808	0.0038	0.0	5008	,	,		11998	0.0		0.0	False		,,,				2504	0.001					ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(79-81)acG>acA		solute carrier family 4 (anion exchanger), member 2		G	,,,	6,4400	12.9+/-30.5	0,6,2197	60.0	55.0	57.0		81,54,39,81	-8.6	0.0	7	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	,,,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,,	27/1242,18/1233,13/1228,27/1242	150761318	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761318G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.81G>A	7.37:g.150761318G>A						SLC4A2_ENST00000413384.2_Silent_p.T27T|SLC4A2_ENST00000392826.2_Silent_p.T18T|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Silent_p.T13T	p.T27T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1121	+			27			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.81G>A	CCDS5917.1																																																																																				0.622	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		20	58	0	0	0	1	0	20	58				
NT5C1B	93034	broad.mit.edu	37	2	18745235	18745235	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:18745235G>A	ENST00000359846.2	-	10	1737	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R554C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R554C|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R494C	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	554					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGACCCCAGCGTCGAAGGGTC	0.522																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(1480-1482)Cgc>Tgc		5'-nucleotidase, cytosolic IB							82.0	82.0	82.0					2																	18745235		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18745235G>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1660C>T	2.37:g.18745235G>A	ENSP00000352904:p.Arg554Cys					NT5C1B_ENST00000359846.2_Missense_Mutation_p.R554C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R554C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R554C	p.R494C	NM_033253.3	NP_150278.2					9	1580	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1480C>T	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.589018|4.589018	0.86851|0.86851	.|.	.|.	ENSG00000250741;ENSG00000185013;ENSG00000185013|ENSG00000185013	ENST00000532967;ENST00000304081;ENST00000359846|ENST00000418427	.|.	.|.	.|.	6.16|6.16	4.31|4.31	0.51392|0.51392	.|.	0.206930|.	0.64402|.	D|.	0.000019|.	T|T	0.55194|0.55194	0.1905|0.1905	L|L	0.43152|0.43152	1.355|1.355	0.45648|0.45648	D|D	0.99857|0.99857	D;D;D;D;D;D;D|.	0.89917|.	0.999;0.999;0.999;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D;D|.	0.72625|.	0.953;0.953;0.953;0.953;0.921;0.953;0.978|.	T|T	0.47032|0.47032	-0.9148|-0.9148	9|5	0.66056|.	D|.	0.02|.	-20.4093|-20.4093	8.4862|8.4862	0.33074|0.33074	0.0:0.1221:0.5396:0.3383|0.0:0.1221:0.5396:0.3383	.|.	537;571;494;537;494;554;554|.	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;Q96P26-2;Q96P26;Q96P26-4|.	.;.;.;.;.;5NT1B_HUMAN;.|.	C|M	554;494;554|208	.|.	ENSP00000305979:R494C|.	R|T	-|-	1|2	0|0	NT5C1B-RDH14;NT5C1B|NT5C1B	18608716|18608716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.867000|3.867000	0.56047|0.56047	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.522	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			16	63	0	0	0	1	0	16	63				
PRAMEF12	390999	broad.mit.edu	37	1	12836145	12836145	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:12836145C>G	ENST00000357726.4	+	2	774	c.747C>G	c.(745-747)gaC>gaG	p.D249E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	249					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCCTAGACAGGAAGGAGC	0.498																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(745-747)gaC>gaG		PRAME family member 12							130.0	135.0	133.0					1																	12836145		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12836145C>G		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.747C>G	1.37:g.12836145C>G	ENSP00000350358:p.Asp249Glu						p.D249E	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	774	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	249						Missense_Mutation	SNP	ENST00000357726.4	37	c.747C>G	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.796742	0.00617	.	.	ENSG00000116726	ENST00000357726	T	0.43294	0.95	2.73	-0.293	0.12835	.	1.404070	0.04582	N	0.395194	T	0.12603	0.0306	N	0.01417	-0.88	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27468	-1.0073	10	0.02654	T	1	.	2.99	0.05980	0.3014:0.2492:0.4494:0.0	.	249	O95522	PRA12_HUMAN	E	249	ENSP00000350358:D249E	ENSP00000350358:D249E	D	+	3	2	PRAMEF12	12758732	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.061000	0.11693	-0.065000	0.13021	0.205000	0.17691	GAC		0.498	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		22	105	0	0	0	1	0	22	105				
USP3	9960	broad.mit.edu	37	15	63852135	63852135	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr15:63852135A>G	ENST00000380324.3	+	7	742	c.613A>G	c.(613-615)Aca>Gca	p.T205A	USP3_ENST00000268049.7_Missense_Mutation_p.T183A|USP3_ENST00000559711.1_Missense_Mutation_p.T116A|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Missense_Mutation_p.T161A|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.T188A|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000560350.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	205	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGGAAGGCGGACATACCACAC	0.413																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(547-549)Aca>Gca		ubiquitin specific peptidase 3							105.0	97.0	100.0					15																	63852135		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63852135A>G	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.613A>G	15.37:g.63852135A>G	ENSP00000369681:p.Thr205Ala					USP3_ENST00000380324.3_Missense_Mutation_p.T205A|USP3_ENST00000536001.1_Intron|USP3_ENST00000558285.1_Missense_Mutation_p.T188A|USP3_ENST00000540797.1_Missense_Mutation_p.T161A|USP3_ENST00000539772.1_Intron|USP3_ENST00000559711.1_Missense_Mutation_p.T116A|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560350.1_RNA	p.T183A			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	8	871	+			205					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.547A>G	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924718	0.52653	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000536848;ENST00000538686	T;T;T	0.20598	2.06;2.16;2.25	6.1	6.1	0.99115	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.040476	0.85682	D	0.000000	T	0.10208	0.0250	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.001;0.003;0.002;0.004	T	0.21245	-1.0251	10	0.08599	T	0.76	.	16.686	0.85306	1.0:0.0:0.0:0.0	.	161;161;183;205	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	A	161;205;183;120;36	ENSP00000445828:T161A;ENSP00000369681:T205A;ENSP00000268049:T183A	ENSP00000268049:T183A	T	+	1	0	USP3	61639188	1.000000	0.71417	0.885000	0.34714	0.963000	0.63663	9.327000	0.96396	2.340000	0.79590	0.528000	0.53228	ACA		0.413	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			5	22	0	0	0	1	0	5	22				
ZNF101	94039	broad.mit.edu	37	19	19790542	19790542	+	Silent	SNP	T	T	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:19790542T>C	ENST00000592502.1	+	4	854	c.744T>C	c.(742-744)acT>acC	p.T248T	ZNF101_ENST00000415784.2_Silent_p.T128T|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAACTCACACTGGAGAAAAAC	0.383																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(742-744)acT>acC		zinc finger protein 101							34.0	34.0	34.0					19																	19790542		2203	4300	6503	SO:0001819	synonymous_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790542T>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.744T>C	19.37:g.19790542T>C						ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.T128T	p.T248T			Q8IZC7	ZN101_HUMAN			4	854	+			248					C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	c.744T>C	CCDS32971.1																																																																																				0.383	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		6	23	0	0	0	1	0	6	23				
CAT	847	broad.mit.edu	37	11	34474685	34474685	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr11:34474685A>G	ENST00000241052.4	+	5	618	c.529A>G	c.(529-531)Aag>Gag	p.K177E		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	177					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	gacacatctgaaggatccgga	0.398																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(529-531)Aag>Gag		catalase	Fomepizole(DB01213)						80.0	77.0	78.0					11																	34474685		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34474685A>G	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.529A>G	11.37:g.34474685A>G	ENSP00000241052:p.Lys177Glu						p.K177E	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	5	618	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	177					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.529A>G	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558986	0.86231	.	.	ENSG00000121691	ENST00000241052	D	0.91577	-2.87	6.08	6.08	0.98989	Catalase domain (1);Catalase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	H	0.95043	3.615	0.80722	D	1	D	0.57257	0.979	P	0.53809	0.735	D	0.96834	0.9613	10	0.87932	D	0	-31.5767	16.6438	0.85155	1.0:0.0:0.0:0.0	.	177	P04040	CATA_HUMAN	E	177	ENSP00000241052:K177E	ENSP00000241052:K177E	K	+	1	0	CAT	34431261	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	6.053000	0.71089	2.333000	0.79357	0.533000	0.62120	AAG		0.398	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		7	23	0	0	0	1	0	7	23				
ZNF326	284695	broad.mit.edu	37	1	90473286	90473286	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:90473286A>G	ENST00000340281.4	+	5	735	c.592A>G	c.(592-594)Aca>Gca	p.T198A	ZNF326_ENST00000370447.3_Missense_Mutation_p.T109A|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	198	Gly-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGACCATCAACAGGCAGAGG	0.463																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(592-594)Aca>Gca		zinc finger protein 326							71.0	74.0	73.0					1																	90473286		2203	4300	6503	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90473286A>G	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.592A>G	1.37:g.90473286A>G	ENSP00000340796:p.Thr198Ala					ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Missense_Mutation_p.T109A	p.T198A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	5	735	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	198			Gly-rich.		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.592A>G	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066685	0.36470	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447	T;T	0.43688	0.98;0.94	5.84	4.7	0.59300	.	0.138436	0.50627	D	0.000112	T	0.15262	0.0368	L	0.40543	1.245	0.80722	D	1	P;P	0.43431	0.807;0.702	B;B	0.39217	0.294;0.182	T	0.04386	-1.0955	10	0.08599	T	0.76	-10.08	12.3571	0.55182	0.8734:0.0:0.0:0.1266	.	198;198	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	A	198;198;109	ENSP00000340796:T198A;ENSP00000359476:T109A	ENSP00000340796:T198A	T	+	1	0	ZNF326	90245874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.521000	0.67086	1.000000	0.39049	-0.336000	0.08194	ACA		0.463	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		7	51	0	0	0	1	0	7	51				
TSGA10	80705	broad.mit.edu	37	2	99725896	99725896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:99725896G>A	ENST00000393483.3	-	6	851	c.7C>T	c.(7-9)Cga>Tga	p.R3*	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R3*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R3*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	3					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GACCTACTTCGCATCATCTTT	0.393																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(7-9)Cga>Tga		testis specific, 10							152.0	137.0	142.0					2																	99725896		2203	4300	6503	SO:0001587	stop_gained	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99725896G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.7C>T	2.37:g.99725896G>A	ENSP00000377123:p.Arg3*					TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R3*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R3*	p.R3*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			6	851	-			3					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	c.7C>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	41	9.160297	0.99085	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	5.18	4.02	0.46733	.	0.068641	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2188	11.0639	0.47964	0.0:0.0:0.4985:0.5015	.	.	.	.	X	3	.	ENSP00000347161:R3X	R	-	1	2	TSGA10	99092328	0.417000	0.25432	0.994000	0.49952	0.985000	0.73830	0.434000	0.21494	0.988000	0.38734	-0.335000	0.08231	CGA		0.393	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		9	52	0	0	0	1	0	9	52				
SYTL1	84958	broad.mit.edu	37	1	27674032	27674032	+	Silent	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:27674032G>A	ENST00000543823.1	+	2	774	c.312G>A	c.(310-312)gcG>gcA	p.A104A	SYTL1_ENST00000318074.5_Silent_p.A104A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCGAGCGTCTATGCGCA	0.632																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(310-312)gcG>gcA		synaptotagmin-like 1							60.0	57.0	58.0					1																	27674032		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27674032G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.312G>A	1.37:g.27674032G>A						SYTL1_ENST00000318074.5_Silent_p.A104A	p.A104A			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	774	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	104					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.312G>A	CCDS53286.1																																																																																				0.632	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		19	53	0	0	0	1	0	19	53				
CDH4	1002	broad.mit.edu	37	20	60448832	60448832	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr20:60448832C>T	ENST00000360469.5	+	7	1014	c.926C>T	c.(925-927)aCg>aTg	p.T309M	CDH4_ENST00000543233.1_Missense_Mutation_p.T235M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	309	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACAGCACCACGGCCAACGGG	0.602																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(925-927)aCg>aTg		cadherin 4, type 1, R-cadherin (retinal)							150.0	116.0	127.0					20																	60448832		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448832C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.926C>T	20.37:g.60448832C>T	ENSP00000353656:p.Thr309Met					CDH4_ENST00000543233.1_Missense_Mutation_p.T235M	p.T309M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1014	+			309			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.926C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275387	0.80580	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76099	-0.3083	9	.	.	.	.	17.8138	0.88624	0.0:1.0:0.0:0.0	.	309	P55283	CADH4_HUMAN	M	309;217;235	ENSP00000353656:T309M;ENSP00000443301:T235M	.	T	+	2	0	CDH4	59882227	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	4.621000	0.61233	2.196000	0.70406	0.460000	0.39030	ACG		0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		26	73	0	0	0	1	0	26	73				
DYNC1H1	1778	broad.mit.edu	37	14	102482730	102482730	+	Silent	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr14:102482730C>T	ENST00000360184.4	+	37	7682	c.7518C>T	c.(7516-7518)agC>agT	p.S2506S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGACAGCCGGCTAAAAA	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7516-7518)agC>agT		dynein, cytoplasmic 1, heavy chain 1							67.0	66.0	66.0					14																	102482730		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482730C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7518C>T	14.37:g.102482730C>T							p.S2506S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7682	+			2506					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7518C>T	CCDS9966.1																																																																																				0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	56	0	0	0	1	0	4	56				
SZT2	23334	broad.mit.edu	37	1	43906957	43906957	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:43906957A>T	ENST00000562955.1	+	52	7246	c.7246A>T	c.(7246-7248)Act>Tct	p.T2416S	SZT2_ENST00000372442.1_Missense_Mutation_p.T1574S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2473					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCAGAAGACACTCGGGGCCG	0.552																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7246-7248)Act>Tct		seizure threshold 2 homolog (mouse)							84.0	93.0	90.0					1																	43906957		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43906957A>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7246A>T	1.37:g.43906957A>T	ENSP00000457168:p.Thr2416Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.T1574S	p.T2416S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			52	7246	+			2473					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.7246A>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281779	0.23392	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.41	5.41	0.78517	.	0.411672	0.28549	N	0.014953	T	0.13970	0.0338	N	0.04508	-0.205	0.19300	N	0.999972	B	0.02656	0.0	B	0.04013	0.001	T	0.29027	-1.0025	9	0.07813	T	0.8	.	6.6541	0.22979	0.7604:0.1558:0.0838:0.0	.	2416	Q5T011-5	.	S	1574	.	ENSP00000361519:T1574S	T	+	1	0	SZT2	43679544	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.573000	0.46007	2.186000	0.69663	0.482000	0.46254	ACT		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		39	131	0	0	0	1	0	39	131				
FAM183B	340286	broad.mit.edu	37	7	38725370	38725370	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr7:38725370G>A	ENST00000409072.3	-	2	1170	c.236C>T	c.(235-237)aCg>aTg	p.T79M				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	79										endometrium(1)|lung(7)	8						GTACTTCTTCGTTGGCCCCTG	0.547																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(235-237)aCg>aTg		family with sequence similarity 183, member B							112.0	113.0	113.0					7																	38725370		1929	4115	6044	SO:0001583	missense	340286							g.chr7:38725370G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.236C>T	7.37:g.38725370G>A	ENSP00000386657:p.Thr79Met						p.T79M							2	1170	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.236C>T		.	.	.	.	.	.	.	.	.	.	G	5.458	0.269576	0.10349	.	.	ENSG00000164556	ENST00000409072	.	.	.	1.16	-1.13	0.09775	.	0.564020	0.17226	N	0.182144	T	0.26085	0.0636	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.17107	-1.0380	6	0.48119	T	0.1	.	2.3145	0.04195	0.0:0.3804:0.3474:0.2721	.	.	.	.	M	79	.	ENSP00000386657:T79M	T	-	2	0	FAM183B	38691895	0.970000	0.33590	0.010000	0.14722	0.010000	0.07245	-0.818000	0.04467	-0.238000	0.09724	-0.232000	0.12228	ACG		0.547	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		42	115	0	0	0	1	0	42	115				
ANAPC5	51433	broad.mit.edu	37	12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGATGCTGATATCGATGAG	0.547																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1258-1260)aTc>aCc		anaphase promoting complex subunit 5							136.0	106.0	116.0					12																	121766164		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766164A>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1259T>C	12.37:g.121766164A>G	ENSP00000261819:p.Ile420Thr					ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T	p.I420T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			10	1380	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		420					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1259T>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	8.805	0.933876	0.18206	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.45581	1.43	0.80722	D	1	B;B;B;B	0.30326	0.234;0.043;0.129;0.276	B;B;B;B	0.33196	0.046;0.046;0.113;0.159	T	0.51980	-0.8636	9	0.10377	T	0.69	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	86;22;308;420	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	308;407;420;86;22;308	.	ENSP00000261819:I420T	I	-	2	0	ANAPC5	120250547	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.468000	0.90393	2.279000	0.76181	0.533000	0.62120	ATC		0.547	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			11	36	0	0	0	1	0	11	36				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	46	0	0	0	1	0	4	46				
ITGAX	3687	broad.mit.edu	37	16	31372440	31372440	+	Silent	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:31372440G>A	ENST00000268296.4	+	9	1039	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ITGAX_ENST00000562522.1_Silent_p.S306S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACATTGCATCGAAGCCCTCCC	0.363																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(916-918)tcG>tcA		integrin, alpha X (complement component 3 receptor 4 subunit)							120.0	129.0	126.0					16																	31372440		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31372440G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.918G>A	16.37:g.31372440G>A						ITGAX_ENST00000562522.1_Silent_p.S306S	p.S306S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			9	1039	+			306			VWFA.		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.918G>A	CCDS10711.1																																																																																				0.363	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		30	104	0	0	0	1	0	30	104				
NELFB	25920	broad.mit.edu	37	9	140161398	140161398	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:140161398G>C	ENST00000343053.4	+	9	1435	c.1098G>C	c.(1096-1098)gaG>gaC	p.E366D		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	366					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCTCGTAGGAGGTAGAGCTCA	0.642																																						ENST00000343053.4																			0											c.(1096-1098)gaG>gaC		negative elongation factor complex member B							69.0	48.0	55.0					9																	140161398		2203	4300	6503	SO:0001583	missense	25920							g.chr9:140161398G>C	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1098G>C	9.37:g.140161398G>C	ENSP00000339495:p.Glu366Asp						p.E366D	NM_015456.3	NP_056271.2					9	1435	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.1098G>C	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	2.256	-0.370408	0.05069	.	.	ENSG00000188986	ENST00000343053	.	.	.	5.32	0.801	0.18679	.	0.205916	0.50627	D	0.000104	T	0.06416	0.0165	N	0.01003	-1.06	0.28000	N	0.935338	B	0.02656	0.0	B	0.06405	0.002	T	0.35076	-0.9803	9	0.02654	T	1	-36.071	3.502	0.07676	0.493:0.0:0.3216:0.1853	.	366	Q8WX92	NELFB_HUMAN	D	366	.	ENSP00000339495:E366D	E	+	3	2	COBRA1	139281219	0.207000	0.23482	0.989000	0.46669	0.805000	0.45488	0.035000	0.13797	0.249000	0.21456	0.478000	0.44815	GAG		0.642	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		8	35	0	0	0	1	0	8	35				
ZNF626	199777	broad.mit.edu	37	19	20828569	20828569	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:20828569C>A	ENST00000601440.1	-	3	293	c.147G>T	c.(145-147)aaG>aaT	p.K49N	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.K49N	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCAGGTCTGGCTTAGAAACAG	0.378																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(145-147)aaG>aaT		zinc finger protein 626							83.0	79.0	80.0					19																	20828569		2203	4300	6503	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20828569C>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.147G>T	19.37:g.20828569C>A	ENSP00000469958:p.Lys49Asn					CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.K49N	p.K49N	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			3	293	-			49			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.147G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.239	-1.014971	0.02078	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.00932	5.53	0.171	-0.342	0.12635	Krueppel-associated box (3);	.	.	.	.	T	0.01558	0.0050	M	0.78456	2.415	0.09310	N	1	B;B	0.32753	0.383;0.032	B;B	0.35182	0.197;0.077	T	0.38436	-0.9661	8	0.49607	T	0.09	.	.	.	.	.	49;49	Q96QM1;Q68DY1	.;ZN626_HUMAN	N	49	ENSP00000291750:K49N	ENSP00000291750:K49N	K	-	3	2	ZNF626	20620409	0.009000	0.17119	0.014000	0.15608	0.014000	0.08584	-0.621000	0.05559	-0.843000	0.04189	-0.850000	0.03035	AAG		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		10	37	1	0	1.5842e-08	1	1.60935e-08	10	37				
P2RX5	5026	broad.mit.edu	37	17	3593952	3593952	+	Missense_Mutation	SNP	G	G	A	rs374084034		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr17:3593952G>A	ENST00000225328.5	-	4	781	c.383C>T	c.(382-384)gCg>gTg	p.A128V	P2RX5_ENST00000550772.1_5'Flank|P2RX5_ENST00000552276.1_Missense_Mutation_p.A128V|P2RX5_ENST00000435558.1_Missense_Mutation_p.A128V|P2RX5_ENST00000551178.1_Missense_Mutation_p.A104V|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.A128V|P2RX5_ENST00000547178.1_Missense_Mutation_p.A128V|P2RX5_ENST00000345901.3_Missense_Mutation_p.A104V|P2RX5_ENST00000552050.1_Missense_Mutation_p.A68V	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	128					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTTGGAGCACGCGCCATCAGG	0.637																																						ENST00000550383.1																			0											c.(382-384)gCg>gTg				G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	50.0	47.0	48.0		383,311,383,311	-9.9	0.0	17		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	P2RX5	NM_001204519.1,NM_001204520.1,NM_002561.3,NM_175080.2	64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	128/422,104/399,128/423,104/398	3593952	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr17:3593952G>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.383C>T	17.37:g.3593952G>A	ENSP00000225328:p.Ala128Val					P2RX5_ENST00000435558.1_Missense_Mutation_p.A128V|P2RX5_ENST00000552276.1_Missense_Mutation_p.A128V|P2RX5_ENST00000552050.1_Missense_Mutation_p.A68V|P2RX5_ENST00000225328.5_Missense_Mutation_p.A128V|P2RX5_ENST00000551178.1_Missense_Mutation_p.A104V|P2RX5_ENST00000547178.1_Missense_Mutation_p.A128V|P2RX5_ENST00000345901.3_Missense_Mutation_p.A104V	p.A128V							4	571	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.383C>T	CCDS11034.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013257	0.07912	0.0	1.16E-4	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050;ENST00000440619	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	4.95	-9.9	0.00461	.	5.299570	0.00166	N	0.000000	T	0.01558	0.0050	N	0.03016	-0.435	0.09310	N	1	B;B;B;B;B;B	0.20052	0.041;0.006;0.004;0.004;0.004;0.004	B;B;B;B;B;B	0.15870	0.005;0.008;0.011;0.008;0.014;0.008	T	0.42666	-0.9438	10	0.16420	T	0.52	-12.735	1.2496	0.01980	0.1565:0.316:0.256:0.2715	.	68;104;128;104;128;128	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	V	128;104;128;128;104;68;128	ENSP00000415370:A128V;ENSP00000447545:A104V;ENSP00000448355:A128V;ENSP00000225328:A128V;ENSP00000342161:A104V;ENSP00000450006:A68V	ENSP00000225328:A128V	A	-	2	0	P2RX5	3540701	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.836000	0.01690	-3.379000	0.00175	-1.851000	0.00568	GCG		0.637	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		14	39	0	0	0	1	0	14	39				
SULT1C3	442038	broad.mit.edu	37	2	108863658	108863658	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:108863658A>G	ENST00000329106.2	+	1	8	c.8A>G	c.(7-9)aAg>aGg	p.K3R	SULT1C3_ENST00000376700.1_Missense_Mutation_p.K3R	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	3					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAATGGCGAAGATTGAGAAA	0.358																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(7-9)aAg>aGg		sulfotransferase family, cytosolic, 1C, member 3							71.0	75.0	74.0					2																	108863658		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863658A>G	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.8A>G	2.37:g.108863658A>G	ENSP00000333310:p.Lys3Arg					SULT1C3_ENST00000376700.1_Missense_Mutation_p.K3R	p.K3R	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	8	+			3					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.8A>G	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.285746	0.01387	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.01484	4.84;4.84	2.13	-0.641	0.11490	.	6.948220	0.01455	U	0.015648	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.47045	-0.9147	10	0.14252	T	0.57	.	5.9517	0.19250	0.595:0.0:0.0:0.405	.	3	Q6IMI6	ST1C3_HUMAN	R	3	ENSP00000333310:K3R;ENSP00000365890:K3R	ENSP00000333310:K3R	K	+	2	0	SULT1C3	108230090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.235000	0.09016	-0.604000	0.05760	-2.086000	0.00376	AAG		0.358	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		13	63	0	0	0	1	0	13	63				
SWI5	375757	broad.mit.edu	37	9	131038453	131038453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:131038453G>A	ENST00000320188.5	+	1	29	c.29G>A	c.(28-30)tGg>tAg	p.W10*	GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000495313.1_Intron|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000421699.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	10					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.W10L(1)									AGGGACCTGTGGCGTCACAAC	0.642																																						ENST00000320188.4																			1	Substitution - Missense(1)	p.W10L(1)	large_intestine(1)								c.(28-30)tGg>tAg		SWI5 recombination repair homolog (yeast)							40.0	48.0	46.0					9																	131038453		2031	4133	6164	SO:0001587	stop_gained	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038453G>A	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.29G>A	9.37:g.131038453G>A	ENSP00000316609:p.Trp10*						p.W10*	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN			1	29	+			10					Q5SYX7|Q5SYX8|Q8N2W6	Nonsense_Mutation	SNP	ENST00000320188.5	37	c.29G>A	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110626	0.56398	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.3	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9625	0.24605	0.0994:0.1749:0.7257:0.0	.	.	.	.	X	10	.	ENSP00000316609:W10X	W	+	2	0	SWI5	130078274	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.018000	0.12568	1.011000	0.39340	0.557000	0.71058	TGG		0.642	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		25	100	0	0	0	1	0	25	100				
TENM2	57451	broad.mit.edu	37	5	167655091	167655091	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:167655091G>C	ENST00000518659.1	+	25	5515	c.5476G>C	c.(5476-5478)Gaa>Caa	p.E1826Q	TENM2_ENST00000519204.1_Missense_Mutation_p.E1705Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1825Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1587Q|CTB-178M22.2_ENST00000519795.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.E1650Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1826					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCTAAGAAAGGAACAGATTAA	0.517																																						ENST00000519204.1																			0											c.(5113-5115)Gaa>Caa		teneurin transmembrane protein 2							49.0	49.0	49.0					5																	167655091		1997	4178	6175	SO:0001583	missense	57451							g.chr5:167655091G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5476G>C	5.37:g.167655091G>C	ENSP00000429430:p.Glu1826Gln					TENM2_ENST00000518659.1_Missense_Mutation_p.E1826Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1587Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1650Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1825Q	p.E1705Q							24	5231	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5113G>C		.	.	.	.	.	.	.	.	.	.	G	25.4	4.638968	0.87760	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90385	-2.18;-2.17;-2.29;-2.62;-2.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.999;0.999;0.986	D	0.94784	0.7956	10	0.45353	T	0.12	.	19.7398	0.96223	0.0:0.0:1.0:0.0	.	1825;1826;1587	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	1826;1825;1705;1587;1650	ENSP00000429430:E1826Q;ENSP00000438635:E1825Q;ENSP00000428964:E1705Q;ENSP00000427874:E1587Q;ENSP00000384905:E1650Q	ENSP00000384905:E1650Q	E	+	1	0	ODZ2	167587669	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.830000	0.99415	2.665000	0.90641	0.561000	0.74099	GAA		0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	21	0	0	0	1	0	3	21				
RAB4B	53916	broad.mit.edu	37	19	41289852	41289852	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:41289852C>T	ENST00000594800.1	+	5	462	c.302C>T	c.(301-303)gCc>gTc	p.A101V	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.A101V|RAB4B_ENST00000357052.2_Missense_Mutation_p.A101V			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	101					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCACTGGCTGCCTGGCTGACG	0.642																																						ENST00000594136.1																			0											c.(301-303)gCc>gTc									40.0	39.0	39.0					19																	41289852		2203	4300	6503	SO:0001583	missense	0							g.chr19:41289852C>T	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.302C>T	19.37:g.41289852C>T	ENSP00000470246:p.Ala101Val					RAB4B_ENST00000594800.1_Missense_Mutation_p.A101V|RAB4B_ENST00000357052.2_Missense_Mutation_p.A101V|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR	p.A101V							5	407	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.302C>T	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147680	0.57151	.	.	ENSG00000167578	ENST00000357052	T	0.77229	-1.08	4.75	2.47	0.30058	Small GTP-binding protein domain (1);	0.264898	0.33670	U	0.004676	T	0.60560	0.2278	N	0.16656	0.425	0.80722	D	1	B;B	0.29232	0.238;0.023	B;B	0.26614	0.071;0.045	T	0.60347	-0.7281	10	0.54805	T	0.06	.	10.4186	0.44338	0.6071:0.3929:0.0:0.0	.	136;101	P61018-2;P61018	.;RAB4B_HUMAN	V	101	ENSP00000349560:A101V	ENSP00000349560:A101V	A	+	2	0	RAB4B	45981692	1.000000	0.71417	0.991000	0.47740	0.950000	0.60333	5.471000	0.66762	0.962000	0.38057	0.491000	0.48974	GCC		0.642	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		15	36	0	0	0	1	0	15	36				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	46	0	0	0	1	0	4	46				
GCC2	9648	broad.mit.edu	37	2	109086210	109086210	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:109086210G>T	ENST00000309863.6	+	6	1139	c.425G>T	c.(424-426)cGt>cTt	p.R142L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	142					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGGCAGTACGTTCCAAATAC	0.338																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(424-426)cGt>cTt		GRIP and coiled-coil domain containing 2							78.0	82.0	80.0					2																	109086210		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086210G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.425G>T	2.37:g.109086210G>T	ENSP00000307939:p.Arg142Leu					GCC2_ENST00000485546.1_3'UTR	p.R142L	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	1139	+			142					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.425G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	1.048	-0.676657	0.03378	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.30182	1.54	5.37	2.92	0.33932	.	0.573392	0.19060	N	0.123788	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	10	0.07482	T	0.82	.	13.6164	0.62110	0.9323:0.0:0.0677:0.0	.	142	Q8IWJ2	GCC2_HUMAN	L	142;142;145;105	ENSP00000307939:R142L	ENSP00000307939:R142L	R	+	2	0	GCC2	108452642	0.997000	0.39634	0.016000	0.15963	0.007000	0.05969	3.564000	0.53791	0.413000	0.25759	-1.799000	0.00621	CGT		0.338	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		22	52	1	0	4.35082e-09	1	4.49117e-09	22	52				
ILVBL	10994	broad.mit.edu	37	19	15234004	15234004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:15234004C>A	ENST00000263383.3	-	4	527	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Missense_Mutation_p.V23L|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	130						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACCGCAGTCACCGTGTTGGTG	0.627																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(388-390)Gtg>Ttg		ilvB (bacterial acetolactate synthase)-like							92.0	89.0	90.0					19																	15234004		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15234004C>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.388G>T	19.37:g.15234004C>A	ENSP00000263383:p.Val130Leu					ILVBL_ENST00000534378.1_Missense_Mutation_p.V23L|ILVBL_ENST00000531635.1_5'UTR	p.V130L	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			4	527	-			130					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.388G>T	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128087	0.56721	.	.	ENSG00000105135	ENST00000263383;ENST00000269733;ENST00000527093;ENST00000533747	T	0.32272	1.46	4.52	4.52	0.55395	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	L	0.50919	1.6	0.58432	D	0.999999	P	0.41848	0.763	P	0.48982	0.597	T	0.35992	-0.9766	10	0.72032	D	0.01	-19.601	14.7176	0.69280	0.0:1.0:0.0:0.0	.	130	A1L0T0	ILVBL_HUMAN	L	130	ENSP00000263383:V130L	ENSP00000263383:V130L	V	-	1	0	ILVBL	15095004	0.998000	0.40836	0.323000	0.25347	0.056000	0.15407	3.775000	0.55349	2.085000	0.62840	0.462000	0.41574	GTG		0.627	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		25	103	1	0	7.38237e-10	1	7.87453e-10	25	103				
TJAP1	93643	broad.mit.edu	37	6	43473228	43473228	+	Missense_Mutation	SNP	G	G	A	rs142853495		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr6:43473228G>A	ENST00000372445.5	+	11	1685	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	TJAP1_ENST00000372452.1_Missense_Mutation_p.D427N|TJAP1_ENST00000259751.1_Missense_Mutation_p.D427N|TJAP1_ENST00000372449.1_Missense_Mutation_p.D437N|TJAP1_ENST00000438588.2_Missense_Mutation_p.D437N|TJAP1_ENST00000372444.2_Missense_Mutation_p.D427N|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.D427N	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	437					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTTGGACGCGATGCCCTCCC	0.622																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(1279-1281)Gat>Aat		tight junction associated protein 1 (peripheral)		G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	69.0	67.0	68.0		1309,1309,1279,1279,1279,1279	4.7	0.3	6	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	TJAP1	NM_001146016.1,NM_001146017.1,NM_001146018.1,NM_001146019.1,NM_001146020.1,NM_080604.2	23,23,23,23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	437/558,437/558,427/548,427/548,427/548,427/548	43473228	1,13005	2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43473228G>A	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1309G>A	6.37:g.43473228G>A	ENSP00000361522:p.Asp437Asn					TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.D437N|TJAP1_ENST00000438588.2_Missense_Mutation_p.D437N|TJAP1_ENST00000436109.2_Missense_Mutation_p.D427N|TJAP1_ENST00000372452.1_Missense_Mutation_p.D427N|TJAP1_ENST00000259751.1_Missense_Mutation_p.D427N|TJAP1_ENST00000372445.5_Missense_Mutation_p.D437N	p.D427N	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1712	+	all_lung(25;0.00536)		437					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.1279G>A	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910068	0.52439	2.27E-4	0.0	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.56	4.69	0.59074	.	0.216848	0.48767	D	0.000179	T	0.47040	0.1424	L	0.60455	1.87	0.43226	D	0.995119	D;D	0.57899	0.981;0.981	P;P	0.44696	0.458;0.458	T	0.54833	-0.8234	9	0.56958	D	0.05	-40.1993	13.8357	0.63408	0.0732:0.0:0.9268:0.0	.	437;427	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	N	427;437;427;427;427;427;437;437	.	ENSP00000259751:D427N	D	+	1	0	TJAP1	43581206	1.000000	0.71417	0.300000	0.25030	0.155000	0.21991	5.434000	0.66526	2.601000	0.87937	0.655000	0.94253	GAT		0.622	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		18	58	0	0	0	1	0	18	58				
PBXIP1	57326	broad.mit.edu	37	1	154924328	154924328	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:154924328G>A	ENST00000368463.3	-	3	192	c.121C>T	c.(121-123)Cct>Tct	p.P41S	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P12S|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P41S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	41					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCTGTGAGGGGCCTGCAGG	0.582																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(121-123)Cct>Tct		pre-B-cell leukemia homeobox interacting protein 1							126.0	131.0	129.0					1																	154924328		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154924328G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.121C>T	1.37:g.154924328G>A	ENSP00000357448:p.Pro41Ser					PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P12S|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P41S|PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron	p.P41S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	192	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		41					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.121C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305493	0.23736	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	T;T;T	0.14391	2.51;2.51;2.51	4.15	2.09	0.27110	.	1.057230	0.07491	N	0.905557	T	0.03915	0.0110	L	0.36672	1.1	0.09310	N	0.999997	B	0.16396	0.017	B	0.16289	0.015	T	0.42447	-0.9451	10	0.66056	D	0.02	-0.0109	5.0079	0.14297	0.2811:0.0:0.7189:0.0	.	41	Q96AQ6	PBIP1_HUMAN	S	12;41;41;41	ENSP00000357450:P12S;ENSP00000357448:P41S;ENSP00000357445:P41S	ENSP00000295523:P41S	P	-	1	0	PBXIP1	153190952	0.018000	0.18449	0.002000	0.10522	0.007000	0.05969	1.085000	0.30840	0.963000	0.38082	0.555000	0.69702	CCT		0.582	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		39	190	0	0	0	1	0	39	190				
SKIDA1	387640	broad.mit.edu	37	10	21805058	21805058	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr10:21805058T>A	ENST00000449193.2	-	4	3946	c.1694A>T	c.(1693-1695)aAg>aTg	p.K565M	SKIDA1_ENST00000444772.3_Missense_Mutation_p.K486M	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	484						nucleus (GO:0005634)											GTCAGTTCTCTTTACAGCATT	0.483																																						ENST00000449193.2																			0											c.(1693-1695)aAg>aTg		SKI/DACH domain containing 1							88.0	89.0	89.0					10																	21805058		1923	4137	6060	SO:0001583	missense	387640							g.chr10:21805058T>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1694A>T	10.37:g.21805058T>A	ENSP00000410041:p.Lys565Met					SKIDA1_ENST00000444772.3_Missense_Mutation_p.K486M	p.K565M	NM_207371.3	NP_997254.3					4	3946	-								B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.1694A>T	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781147	0.49891	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.88	4.73	0.59995	.	0.408336	0.26859	N	0.022133	T	0.61961	0.2389	L	0.29908	0.895	0.43160	D	0.994949	D	0.76494	0.999	D	0.64042	0.921	T	0.65001	-0.6274	9	0.87932	D	0	-0.4755	11.3886	0.49800	0.0:0.0712:0.0:0.9288	.	565	E9PAX1	.	M	565;486	.	ENSP00000442432:K486M	K	-	2	0	C10orf140	21845064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.903000	0.28475	1.019000	0.39547	0.528000	0.53228	AAG		0.483	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		20	65	0	0	0	1	0	20	65				
FCGBP	8857	broad.mit.edu	37	19	40374061	40374061	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:40374061T>C	ENST00000221347.6	-	26	12024	c.12017A>G	c.(12016-12018)aAc>aGc	p.N4006S	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4006	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCGACAGTTGTCAATGAG	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12016-12018)aAc>aGc		Fc fragment of IgG binding protein							7.0	8.0	8.0					19																	40374061		1956	3876	5832	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40374061T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12017A>G	19.37:g.40374061T>C	ENSP00000221347:p.Asn4006Ser						p.N4006S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		26	12024	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4006			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12017A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	8.461	0.855272	0.17106	.	.	ENSG00000090920	ENST00000221347	T	0.05319	3.46	2.99	-2.0	0.07433	von Willebrand factor, type C (1);	.	.	.	.	T	0.04724	0.0128	L	0.41027	1.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48525	-0.9028	9	0.10636	T	0.68	.	7.6372	0.28274	0.0:0.4375:0.0:0.5625	.	4006	Q9Y6R7	FCGBP_HUMAN	S	4006	ENSP00000221347:N4006S	ENSP00000221347:N4006S	N	-	2	0	FCGBP	45065901	0.984000	0.35163	0.046000	0.18839	0.213000	0.24496	-0.057000	0.11768	-0.739000	0.04809	0.254000	0.18369	AAC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	11	0	0	0	1	0	4	11				
NES	10763	broad.mit.edu	37	1	156641138	156641138	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:156641138C>T	ENST00000368223.3	-	4	2974	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	948	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCTCTGCACATCTGCAGAC	0.552																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(2842-2844)Gtg>Atg		nestin							173.0	186.0	182.0					1																	156641138		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156641138C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2842G>A	1.37:g.156641138C>T	ENSP00000357206:p.Val948Met						p.V948M	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	2974	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		948			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.2842G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345374	0.24426	.	.	ENSG00000132688	ENST00000368223	D	0.86956	-2.19	4.68	0.0275	0.14155	.	.	.	.	.	T	0.66015	0.2747	L	0.29908	0.895	0.09310	N	1	B	0.21071	0.051	B	0.25405	0.06	T	0.59820	-0.7382	9	0.48119	T	0.1	.	10.1171	0.42598	0.0903:0.6283:0.2813:0.0	.	948	P48681	NEST_HUMAN	M	948	ENSP00000357206:V948M	ENSP00000357206:V948M	V	-	1	0	NES	154907762	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.110000	0.15437	0.028000	0.15324	-0.300000	0.09419	GTG		0.552	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	247	0	0	0	1	0	5	247				
SPOPL	339745	broad.mit.edu	37	2	139318404	139318404	+	Silent	SNP	T	T	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:139318404T>C	ENST00000280098.4	+	8	1123	c.744T>C	c.(742-744)ccT>ccC	p.P248P		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	248	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATTTAGACCCTGAAGTTTTTA	0.333																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(742-744)ccT>ccC		speckle-type POZ protein-like							71.0	75.0	74.0					2																	139318404		2203	4300	6503	SO:0001819	synonymous_variant	339745					nucleus		g.chr2:139318404T>C		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.744T>C	2.37:g.139318404T>C							p.P248P	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	8	1123	+			248			BTB.			Silent	SNP	ENST00000280098.4	37	c.744T>C	CCDS33298.1																																																																																				0.333	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			3	52	0	0	0	1	0	3	52				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		11	19	0	0	0	1	0	11	19				
HCN1	348980	broad.mit.edu	37	5	45695922	45695922	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:45695922C>T	ENST00000303230.4	-	1	331	c.274G>A	c.(274-276)Ggc>Agc	p.G92S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	92	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCATGAAGCCGTACTGCCGC	0.697																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(274-276)Ggc>Agc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							21.0	24.0	23.0					5																	45695922		2175	4241	6416	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695922C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.274G>A	5.37:g.45695922C>T	ENSP00000307342:p.Gly92Ser						p.G92S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			1	331	-			92			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.274G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670384	0.47677	.	.	ENSG00000164588	ENST00000303230	D	0.97232	-4.3	4.18	4.18	0.49190	.	0.000000	0.46758	D	0.000279	D	0.91133	0.7208	N	0.17082	0.46	0.58432	D	0.999997	P	0.42161	0.772	B	0.32805	0.153	D	0.90932	0.4791	10	0.15066	T	0.55	.	16.2688	0.82603	0.0:1.0:0.0:0.0	.	92	O60741	HCN1_HUMAN	S	92	ENSP00000307342:G92S	ENSP00000307342:G92S	G	-	1	0	HCN1	45731679	0.984000	0.35163	0.999000	0.59377	0.902000	0.53008	2.679000	0.46909	2.132000	0.65825	0.462000	0.41574	GGC		0.697	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	28	0	0	0	1	0	7	28				
IL1RAPL2	26280	broad.mit.edu	37	X	104999297	104999297	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chrX:104999297G>T	ENST00000372582.1	+	10	2075	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G440V|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	440	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACACTATGGATATAAACTC	0.368																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1318-1320)gGa>gTa		interleukin 1 receptor accessory protein-like 2							114.0	107.0	110.0					X																	104999297		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104999297G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1319G>T	X.37:g.104999297G>T	ENSP00000361663:p.Gly440Val					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G440V|IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G45V	p.G440V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			10	2075	+			440			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1319G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919564	0.73098	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04406	3.63;3.63;3.63	5.62	5.62	0.85841	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000007	T	0.30355	0.0762	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26087	-1.0113	10	0.87932	D	0	.	17.5212	0.87787	0.0:0.0:1.0:0.0	.	440	Q9NP60	IRPL2_HUMAN	V	440;440;45	ENSP00000361663:G440V;ENSP00000344976:G440V;ENSP00000445576:G45V	ENSP00000344976:G440V	G	+	2	0	IL1RAPL2	104885953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.353000	0.79882	0.600000	0.82982	GGA		0.368	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		33	40	1	0	1.36161e-19	1	1.47701e-19	33	40				
LRIF1	55791	broad.mit.edu	37	1	111494344	111494344	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:111494344C>T	ENST00000369763.4	-	2	1552	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTGGAGTATCAGGAGAAACA	0.373																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1162-1164)Gat>Aat		ligand dependent nuclear receptor interacting factor 1							173.0	178.0	176.0					1																	111494344		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494344C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1162G>A	1.37:g.111494344C>T	ENSP00000358778:p.Asp388Asn					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	p.D388N	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1552	-			388					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1162G>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709654	0.48517	.	.	ENSG00000121931	ENST00000369763	T	0.26957	1.7	5.7	4.8	0.61643	.	0.275250	0.33691	N	0.004659	T	0.07908	0.0198	L	0.27053	0.805	0.80722	D	1	B	0.12630	0.006	B	0.17433	0.018	T	0.07443	-1.0772	10	0.42905	T	0.14	-1.705	8.2218	0.31545	0.0:0.7595:0.1574:0.0831	.	388	Q5T3J3	LRIF1_HUMAN	N	388	ENSP00000358778:D388N	ENSP00000358778:D388N	D	-	1	0	LRIF1	111295867	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	1.670000	0.37502	1.433000	0.47394	-0.229000	0.12294	GAT		0.373	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		44	158	0	0	0	1	0	44	158				
PDPK1	5170	broad.mit.edu	37	16	2636776	2636776	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:2636776G>A	ENST00000342085.4	+	11	1374	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S	PDPK1_ENST00000389224.3_Missense_Mutation_p.G382S|PDPK1_ENST00000354836.5_Missense_Mutation_p.G385S|PDPK1_ENST00000441549.3_Missense_Mutation_p.G409S|PDPK1_ENST00000268673.7_Missense_Mutation_p.G282S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	409					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCAGAGGTCAGGCAGCAACAT	0.527																																						ENST00000342085.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(1225-1227)Ggc>Agc		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						129.0	121.0	124.0					16																	2636776		2198	4300	6498	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2636776G>A	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1225G>A	16.37:g.2636776G>A	ENSP00000344220:p.Gly409Ser					PDPK1_ENST00000268673.7_Missense_Mutation_p.G282S|PDPK1_ENST00000441549.3_Missense_Mutation_p.G409S|PDPK1_ENST00000389224.3_Missense_Mutation_p.G382S|PDPK1_ENST00000354836.5_Missense_Mutation_p.G385S	p.G409S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN			11	1374	+		Ovarian(90;0.17)	409					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.1225G>A	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024077	0.19433	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.69685	-0.42;1.14;0.09;-0.42	5.05	4.07	0.47477	.	0.232209	0.44285	D	0.000462	T	0.36303	0.0962	N	0.02973	-0.45	0.47778	D	0.999513	B;B;B	0.19583	0.011;0.037;0.0	B;B;B	0.18561	0.005;0.022;0.001	T	0.39375	-0.9617	10	0.02654	T	1	-12.6287	12.8121	0.57645	0.0826:0.0:0.9174:0.0	.	447;282;409	Q59EH6;O15530-4;O15530	.;.;PDPK1_HUMAN	S	409;447;282;385;382	ENSP00000344220:G409S;ENSP00000268673:G282S;ENSP00000346895:G385S;ENSP00000373876:G382S	ENSP00000268673:G282S	G	+	1	0	PDPK1	2576777	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	4.466000	0.60148	2.627000	0.88993	0.655000	0.94253	GGC		0.527	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			36	111	0	0	0	1	0	36	111				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S48R(2)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	182	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	71	0	0	0	1	0	5	71				
NOL4	8715	broad.mit.edu	37	18	31802972	31802972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr18:31802972G>T	ENST00000261592.5	-	1	543	c.246C>A	c.(244-246)taC>taA	p.Y82*	NOL4_ENST00000589544.1_Nonsense_Mutation_p.Y82*|NOL4_ENST00000590846.1_5'Flank|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'Flank|NOL4_ENST00000538587.1_5'Flank	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	82						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGACAGGCACGTAGAGCACTT	0.627																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(244-246)taC>taA		nucleolar protein 4							38.0	41.0	40.0					18																	31802972		2041	4190	6231	SO:0001587	stop_gained	8715					nucleolus	RNA binding	g.chr18:31802972G>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.246C>A	18.37:g.31802972G>T	ENSP00000261592:p.Tyr82*					NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Nonsense_Mutation_p.Y82*	p.Y82*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			1	543	-			82					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Nonsense_Mutation	SNP	ENST00000261592.5	37	c.246C>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	39	7.803996	0.98498	.	.	ENSG00000101746	ENST00000261592	.	.	.	5.72	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8724	11.8733	0.52534	0.0817:0.0:0.9183:0.0	.	.	.	.	X	82	.	ENSP00000261592:Y82X	Y	-	3	2	NOL4	30056970	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.172000	0.58243	1.419000	0.47118	0.561000	0.74099	TAC		0.627	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		9	38	1	0	7.48243e-07	1	7.48243e-07	9	38				
ZFAT	57623	broad.mit.edu	37	8	135612780	135612780	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr8:135612780T>G	ENST00000377838.3	-	7	2548	c.2374A>C	c.(2374-2376)Aaa>Caa	p.K792Q	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.K730Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.K780Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.K780Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	792					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTACTGTGTTTCTGAATTACG	0.438																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2338-2340)Aaa>Caa		zinc finger and AT hook domain containing							165.0	163.0	163.0					8																	135612780		1973	4150	6123	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135612780T>G	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2374A>C	8.37:g.135612780T>G	ENSP00000367069:p.Lys792Gln					ZFAT_ENST00000377838.3_Missense_Mutation_p.K792Q|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.K780Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.K730Q	p.K780Q	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		8	2637	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		792					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2338A>C	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454245	0.84209	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	L	0.37507	1.11	0.53005	D	0.99996	D;D;D;D	0.89917	1.0;0.999;0.999;0.994	D;D;D;D	0.77557	0.986;0.969;0.99;0.918	T	0.03750	-1.1007	10	0.72032	D	0.01	-19.4701	14.9503	0.71067	0.0:0.0:0.0:1.0	.	730;780;780;792	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	Q	780;780;780;792;780;679;730;780	ENSP00000427879:K780Q;ENSP00000427831:K780Q;ENSP00000394501:K780Q;ENSP00000367069:K792Q;ENSP00000428483:K780Q;ENSP00000429091:K730Q	ENSP00000326997:K679Q	K	-	1	0	ZFAT	135681962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.189000	0.69895	0.533000	0.62120	AAA		0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		31	109	0	0	0	1	0	31	109				
CACNA1I	8911	broad.mit.edu	37	22	40066135	40066135	+	Silent	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr22:40066135C>T	ENST00000402142.3	+	25	4287	c.4287C>T	c.(4285-4287)gtC>gtT	p.V1429V	CACNA1I_ENST00000336649.4_Silent_p.V1435V|CACNA1I_ENST00000404898.1_Silent_p.V1394V|CACNA1I_ENST00000407673.1_Silent_p.V1394V|CACNA1I_ENST00000400164.3_Silent_p.V1394V|CACNA1I_ENST00000401624.1_Silent_p.V1429V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1429					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGTGGGTGTCGTGGTGGAGA	0.602																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4303-4305)gtC>gtT		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						250.0	252.0	251.0					22																	40066135		2125	4238	6363	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066135C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4287C>T	22.37:g.40066135C>T						CACNA1I_ENST00000401624.1_Silent_p.V1429V|CACNA1I_ENST00000400164.3_Silent_p.V1394V|CACNA1I_ENST00000402142.3_Silent_p.V1429V|CACNA1I_ENST00000404898.1_Silent_p.V1394V|CACNA1I_ENST00000407673.1_Silent_p.V1394V	p.V1435V			Q9P0X4	CAC1I_HUMAN			28	4305	+	Melanoma(58;0.0749)		1429					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.4305C>T	CCDS46710.1																																																																																				0.602	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	265	0	0	0	1	0	4	265				
TOX3	27324	broad.mit.edu	37	16	52484190	52484190	+	Splice_Site	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:52484190C>T	ENST00000219746.9	-	4	961	c.677G>A	c.(676-678)aGa>aAa	p.R226K	TOX3_ENST00000407228.3_Splice_Site_p.R221K	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	226					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTAACTTACTCTGTTGGCTTC	0.463																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.e4+1		TOX high mobility group box family member 3							84.0	82.0	82.0					16																	52484190		1981	4190	6171	SO:0001630	splice_region_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484190C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.678+1G>A	16.37:g.52484190C>T						TOX3_ENST00000407228.3_Splice_Site_p.R221_splice	p.R226_splice	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	961	-			226					B4DRD0|B5MCW4	Splice_Site	SNP	ENST00000219746.9	37	c.678_splice	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373115	0.61624	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10288	2.9;2.89	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.10594	0.0259	N	0.01209	-0.955	0.58432	D	0.999999	D;D	0.58268	0.982;0.982	D;D	0.67548	0.952;0.952	T	0.57388	-0.7820	10	0.15066	T	0.55	.	18.1038	0.89513	0.0:1.0:0.0:0.0	.	221;226	B4DRD0;O15405	.;TOX3_HUMAN	K	226;221	ENSP00000219746:R226K;ENSP00000385705:R221K	ENSP00000219746:R226K	R	-	2	0	TOX3	51041691	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.029000	0.70895	2.704000	0.92352	0.591000	0.81541	AGA		0.463	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037	Missense_Mutation	13	41	0	0	0	1	0	13	41				
FLG	2312	broad.mit.edu	37	1	152279919	152279919	+	Silent	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:152279919C>T	ENST00000368799.1	-	3	7478	c.7443G>A	c.(7441-7443)ttG>ttA	p.L2481L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTATCTACCAATTGCTCGT	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7441-7443)ttG>ttA		filaggrin							353.0	325.0	335.0					1																	152279919		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279919C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7443G>A	1.37:g.152279919C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.L2481L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7478	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2481			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.7443G>A	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	523	0	0	0	1	0	8	523				
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	rs142863825		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3526-3528)tCg>tTg		brain-specific angiogenesis inhibitor 3		C	LEU/SER	0,4406		0,0,2203	182.0	166.0	172.0		3527	5.1	1.0	6	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BAI3	NM_001704.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1176/1523	70064192	1,13005	2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70064192C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3527C>T	6.37:g.70064192C>T	ENSP00000359630:p.Ser1176Leu					BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	p.S1176L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			27	4348	+		all_lung(197;0.212)	1176			Poly-Ser.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3527C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852500	0.51270	0.0	1.16E-4	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.53423	1.1;1.1;0.62	5.08	5.08	0.68730	.	0.165899	0.56097	D	0.000040	T	0.32882	0.0844	L	0.55213	1.73	0.48901	D	0.999722	P;P	0.45428	0.672;0.858	B;B	0.35114	0.057;0.196	T	0.47275	-0.9130	10	0.87932	D	0	.	18.8309	0.92139	0.0:1.0:0.0:0.0	.	382;1176	B7Z356;O60242	.;BAI3_HUMAN	L	1176;382;140	ENSP00000359630:S1176L;ENSP00000238918:S382L;ENSP00000441821:S140L	ENSP00000238918:S382L	S	+	2	0	BAI3	70120913	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.431000	0.80335	2.536000	0.85505	0.591000	0.81541	TCG		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			23	77	0	0	0	1	0	23	77				
FUT2	2524	broad.mit.edu	37	19	49206416	49206416	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:49206416C>T	ENST00000425340.2	+	2	320	c.203C>T	c.(202-204)gCa>gTa	p.A68V	FUT2_ENST00000391876.4_Missense_Mutation_p.A68V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	68					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACGATCAATGCAATAGGCCGC	0.607																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(202-204)gCa>gTa		fucosyltransferase 2 (secretor status included)							68.0	64.0	65.0					19																	49206416		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206416C>T		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.203C>T	19.37:g.49206416C>T	ENSP00000387498:p.Ala68Val					FUT2_ENST00000391876.4_Missense_Mutation_p.A68V	p.A68V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	320	+		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	68					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.203C>T	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359501	0.24598	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96136	-3.92;-3.92;-3.92	4.3	1.49	0.22878	.	.	.	.	.	D	0.92401	0.7588	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	D	0.84435	0.0579	9	0.44086	T	0.13	.	8.2317	0.31601	0.0:0.7593:0.0:0.2407	.	68	Q10981	FUT2_HUMAN	V	68	ENSP00000430227:A68V;ENSP00000387498:A68V;ENSP00000375748:A68V	ENSP00000375748:A68V	A	+	2	0	FUT2	53898228	0.006000	0.16342	0.001000	0.08648	0.048000	0.14542	2.194000	0.42668	0.309000	0.22966	0.543000	0.68304	GCA		0.607	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		9	43	0	0	0	1	0	9	43				
PCDH15	65217	broad.mit.edu	37	10	55591182	55591182	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr10:55591182C>A	ENST00000320301.6	-	30	4489	c.4095G>T	c.(4093-4095)aaG>aaT	p.K1365N	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.K976N|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1365N|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1372N|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1343N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1328N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.K1370N|PCDH15_ENST00000395438.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1294N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Missense_Mutation_p.K1372N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1365					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTCCTCTCTTTTTAATGC	0.483										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4114-4116)aaG>aaT		protocadherin-related 15							252.0	215.0	228.0					10																	55591182		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591182C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4095G>T	10.37:g.55591182C>A	ENSP00000322604:p.Lys1365Asn	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Missense_Mutation_p.K1294N|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1365N|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1372N|PCDH15_ENST00000409834.1_Missense_Mutation_p.K976N|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1343N|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1328N|PCDH15_ENST00000395438.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000414778.1_Missense_Mutation_p.K1370N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1365N|PCDH15_ENST00000395440.1_Intron	p.K1372N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4510	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1365					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4116G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688995	0.68271	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59502	0.4;0.45;0.39;0.4;0.35;0.3;0.26;0.32;0.27;0.27;0.26	5.75	2.53	0.30540	.	.	.	.	.	T	0.63248	0.2495	L	0.34521	1.04	0.46586	D	0.999119	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.996;0.999;0.999;0.999;0.997;0.999;0.999;0.997;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.997;0.979;0.979;0.933;0.985;0.979;0.997;0.928;0.971;0.971;0.947;0.947;0.979	T	0.63139	-0.6704	9	0.59425	D	0.04	.	10.8101	0.46543	0.0:0.7278:0.0:0.2722	.	1343;1365;1365;1370;1294;1328;1365;1365;1372;1372;1365;1370;1365	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1372;1370;1365;1365;976;1372;1328;1365;1343;1365;1365;1370;1294	ENSP00000363076:K1372N;ENSP00000410304:K1370N;ENSP00000378826:K1365N;ENSP00000386693:K976N;ENSP00000378832:K1372N;ENSP00000378820:K1328N;ENSP00000354950:K1365N;ENSP00000378821:K1343N;ENSP00000322604:K1365N;ENSP00000378818:K1365N;ENSP00000412628:K1294N	ENSP00000322604:K1365N	K	-	3	2	PCDH15	55261188	0.981000	0.34729	0.999000	0.59377	0.976000	0.68499	0.296000	0.19083	0.773000	0.33404	0.585000	0.79938	AAG		0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	51	1	0	2.80697e-09	1	2.94502e-09	12	51				
NUP133	55746	broad.mit.edu	37	1	229577702	229577702	+	Silent	SNP	G	G	A			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:229577702G>A	ENST00000261396.3	-	26	3511	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	NUP133_ENST00000537506.1_Silent_p.F1124F|RP5-1068B5.3_ENST00000434311.1_lincRNA	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1140					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAACAAACTCGAAGTAAGGAT	0.363																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3418-3420)ttC>ttT		nucleoporin 133kDa							91.0	99.0	96.0					1																	229577702		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577702G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3420C>T	1.37:g.229577702G>A						NUP133_ENST00000537506.1_Silent_p.F1124F|NUP133_ENST00000366679.1_Intron	p.F1140F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			26	3511	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1140					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.3420C>T	CCDS1579.1																																																																																				0.363	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		24	68	0	0	0	1	0	24	68				
RPL37	6167	broad.mit.edu	37	5	40834355	40834355	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:40834355G>C	ENST00000274242.5	-	3	301	c.152C>G	c.(151-153)gCc>gGc	p.A51G	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Missense_Mutation_p.A51G|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000509877.1_Intron	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				TTTAGCCTTGGCACTCCAGTT	0.408																																					Colon(188;1411 2035 4978 19588 31462)	ENST00000274242.5																			0				lung(3)|ovary(1)	4						c.(151-153)gCc>gGc		ribosomal protein L37							106.0	99.0	101.0					5																	40834355		2203	4300	6503	SO:0001583	missense	6167				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr5:40834355G>C	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.152C>G	5.37:g.40834355G>C	ENSP00000274242:p.Ala51Gly					RPL37_ENST00000509877.1_Intron|RPL37_ENST00000508493.1_Missense_Mutation_p.A51G|RPL37_ENST00000504562.1_5'UTR	p.A51G	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN			3	301	-		Breast(839;0.238)	51					B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	37	c.152C>G	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297490	0.60086	.	.	ENSG00000145592	ENST00000274242;ENST00000508493	T	0.45668	0.89	5.21	5.21	0.72293	Ribosomal protein L37ae/L37e, N-terminal (1);Ribosomal protein, zinc-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.20955	0.032	T	0.10870	-1.0611	9	0.34782	T	0.22	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	51	P61927	RL37_HUMAN	G	51	ENSP00000274242:A51G	ENSP00000274242:A51G	A	-	2	0	RPL37	40870112	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.027000	0.88791	2.435000	0.82474	0.563000	0.77884	GCC		0.408	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		15	57	0	0	0	1	0	15	57				
TTC1	7265	broad.mit.edu	37	5	159476556	159476556	+	Silent	SNP	T	T	C			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:159476556T>C	ENST00000231238.5	+	6	687	c.577T>C	c.(577-579)Ttg>Ctg	p.L193L	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.L193L	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	193					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CAGGGCAATATTGAGGAGAGC	0.348																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(577-579)Ttg>Ctg		tetratricopeptide repeat domain 1							68.0	70.0	69.0					5																	159476556		2203	4300	6503	SO:0001819	synonymous_variant	7265				protein folding		unfolded protein binding	g.chr5:159476556T>C	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.577T>C	5.37:g.159476556T>C						TTC1_ENST00000522793.1_Silent_p.L193L|TTC1_ENST00000520274.1_3'UTR	p.L193L	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	6	687	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	193					B2RCT2|D3DQJ8|Q9BVT3	Silent	SNP	ENST00000231238.5	37	c.577T>C	CCDS4348.1																																																																																				0.348	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		12	30	0	0	0	1	0	12	30				
USHBP1	83878	broad.mit.edu	37	19	17370705	17370705	+	Splice_Site	SNP	C	C	T			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:17370705C>T	ENST00000252597.3	-	5	942		c.e5+1		USHBP1_ENST00000431146.2_Splice_Site|USHBP1_ENST00000598570.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCGCACTCACCTGAGTCTCC	0.542																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.e5+1		Usher syndrome 1C binding protein 1							73.0	67.0	69.0					19																	17370705		2203	4300	6503	SO:0001630	splice_region_variant	83878						PDZ domain binding	g.chr19:17370705C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.768+1G>A	19.37:g.17370705C>T						USHBP1_ENST00000431146.2_Splice_Site		NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			5	942	-									Splice_Site	SNP	ENST00000252597.3	37		CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957679	0.53400	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0713	0.53618	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USHBP1	17231705	1.000000	0.71417	0.991000	0.47740	0.785000	0.44390	3.353000	0.52247	2.560000	0.86352	0.655000	0.94253	.		0.542	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	Intron	11	49	0	0	0	1	0	11	49				
PPFIA2	8499	broad.mit.edu	37	12	81671195	81671195	+	Splice_Site	DEL	T	T	-			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:81671195delT	ENST00000549396.1	-	28	3373		c.e28-2		PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.R1059fs|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333																																						ENST00000333447.7																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3175-3177)gafs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2			,,,,,,,,	31,81,3200		1,0,29,4,73,1549	43.0	38.0	40.0		,,,,,,,,	5.7	1.0	12		43	81,103,7316		0,0,81,6,91,3572	no	splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3	PPFIA2	NM_003625.3,NM_001220480.1,NM_001220479.1,NM_001220478.1,NM_001220477.1,NM_001220476.1,NM_001220475.1,NM_001220474.1,NM_001220473.1	,,,,,,,,	1,0,110,10,164,5121	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4533,3.3816,2.7377	,,,,,,,,	,,,,,,,,	81671195	112,184,10516	1760	4021	5781	SO:0001630	splice_region_variant	8499							g.chr12:81671195delT	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3213-2A>-	12.37:g.81671195delT						PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site	p.R1059fs			B7Z663	B7Z663_HUMAN			26	3174	-			970					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Del	DEL	ENST00000549396.1	37	c.3175delA	CCDS55857.1																																																																																				0.333	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	2	4						2	4	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46997016	46997017	+	Intron	INS	-	-	CGGCCT	rs147338403	byFrequency	TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:46997016_46997017insCGGCCT	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_In_Frame_Ins_p.569_569R>RGR|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGTGACGCCCCGGCCTCGGCC	0.777														399	0.0796725	0.0877	0.1311	5008	,	,		7999	0.0069		0.1541	False		,,,				2504	0.0307					ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(1705-1707)cgg>cAGGCCGgg		paraneoplastic Ma antigen family-like 2			,	157,1431		64,29,701					,	-3.0	0.0		dbSNP_134	2	473,3237		187,99,1569	no	coding,intron	PNMAL2,LOC100506012	NM_020709.1,NM_001205281.1	,	251,128,2270	A1A1,A1R,RR		12.7493,9.8866,11.8913	,	,		630,4668				SO:0001627	intron_variant	57469							g.chr19:46997016_46997017insCGGCCT	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+971->AGGCCG	19.37:g.46997017_46997022dupCGGCCT						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	p.569_569R>QAG	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2738_2739	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	571					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	In_Frame_Ins	INS	ENST00000377655.2	37	c.1706_1707insAGGCCG																																																																																					0.777	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		2	4						2	4	---	---	---	---
