#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
TLN2	83660	broad.mit.edu	37	15	62978869	62978869	+	Silent	SNP	G	G	T	rs369934703		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:62978869G>T	ENST00000561311.1	+	11	1217	c.987G>T	c.(985-987)gtG>gtT	p.V329V	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V			Q9Y4G6	TLN2_HUMAN	talin 2	329	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V329V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCTGGTGCCTCGCCTGC	0.537																																						ENST00000561311.1																			1	Substitution - coding silent(1)	p.V329V(1)	prostate(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(985-987)gtG>gtT		talin 2		G		0,4406		0,0,2203	57.0	47.0	50.0		987	1.6	1.0	15		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TLN2	NM_015059.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		329/2543	62978869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62978869G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.987G>T	15.37:g.62978869G>T						RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Silent_p.V329V	p.V329V			Q9Y4G6	TLN2_HUMAN			11	1217	+			329			FERM.|Interaction with PIP5K1C (By similarity).		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.987G>T	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			12	31	1	0	2.80697e-09	0.080935	3.2868e-09	12	31				
DYRK1A	1859	broad.mit.edu	37	21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:38884778G>C	ENST00000398960.2	+	11	2311	c.2236G>C	c.(2236-2238)Gaa>Caa	p.E746Q	DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E737Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	746					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.E746Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			1	Substitution - Missense(1)	p.E746Q(1)	prostate(1)	breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2209-2211)Gaa>Caa		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							103.0	105.0	104.0					21																	38884778		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884778G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2236G>C	21.37:g.38884778G>C	ENSP00000381932:p.Glu746Gln					DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E746Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q	p.E737Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3679	+			746					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.2209G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670215	0.67814	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.60548	0.18;0.23;0.79	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	L	0.27053	0.805	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.70487	0.932;0.969	T	0.65681	-0.6109	10	0.41790	T	0.15	.	18.9479	0.92628	0.0:0.0:1.0:0.0	.	746;737	Q13627;Q13627-2	DYR1A_HUMAN;.	Q	737;746;518	ENSP00000340373:E737Q;ENSP00000381932:E746Q;ENSP00000407854:E518Q	ENSP00000340373:E737Q	E	+	1	0	DYRK1A	37806648	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.691000	0.98679	2.556000	0.86216	0.591000	0.81541	GAA		0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		7	178	0	0	0	0.029380	0	7	178				
KRTAP5-11	440051	broad.mit.edu	37	11	71293806	71293806	+	Silent	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:71293806A>T	ENST00000398530.1	-	1	115	c.78T>A	c.(76-78)tcT>tcA	p.S26S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	26						keratin filament (GO:0045095)		p.S26S(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACAGCCAGAGCCACAGC	0.637																																						ENST00000398530.1																			1	Substitution - coding silent(1)	p.S26S(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(76-78)tcT>tcA		keratin associated protein 5-11							38.0	53.0	48.0					11																	71293806		2197	4281	6478	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293806A>T	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.78T>A	11.37:g.71293806A>T						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.S26S	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	115	-			26						Silent	SNP	ENST00000398530.1	37	c.78T>A	CCDS41685.1																																																																																				0.637	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		8	32	0	0	0	0.105934	0	8	32				
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	lincRNA	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16959603G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGCAGTGACGCCTGCCTCAT	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16959603G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959603G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	44	0	0	0	0.014758	0	5	44				
ARSB	411	broad.mit.edu	37	5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:78260259T>G	ENST00000264914.4	-	3	1206	c.670A>C	c.(670-672)Act>Cct	p.T224P	ARSB_ENST00000565165.1_Missense_Mutation_p.T224P|ARSB_ENST00000396151.3_Missense_Mutation_p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	224					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGATGGTTAGTTATGAGGGCT	0.363																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(670-672)Act>Cct		arylsulfatase B							79.0	80.0	80.0					5																	78260259		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260259T>G	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.670A>C	5.37:g.78260259T>G	ENSP00000264914:p.Thr224Pro					ARSB_ENST00000396151.3_Missense_Mutation_p.T224P|ARSB_ENST00000565165.1_Missense_Mutation_p.T224P	p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1206	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	224					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.670A>C	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073368	0.36566	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96365	-3.99;-3.99	5.36	-0.353	0.12594	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.863758	0.10545	N	0.662193	D	0.93151	0.7819	L	0.54323	1.7	0.29528	N	0.852985	B;B	0.23185	0.081;0.006	B;B	0.23018	0.043;0.015	D	0.85835	0.1394	10	0.46703	T	0.11	.	6.7585	0.23528	0.1146:0.6655:0.0:0.2199	.	224;224	Q8N322;P15848	.;ARSB_HUMAN	P	224	ENSP00000264914:T224P;ENSP00000379455:T224P	ENSP00000264914:T224P	T	-	1	0	ARSB	78296015	0.965000	0.33210	0.884000	0.34674	0.980000	0.70556	0.213000	0.17521	-0.315000	0.08703	-0.256000	0.11100	ACT		0.363	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		3	191	0	0	0	0.115264	0	3	191				
DDX27	55661	broad.mit.edu	37	20	47845307	47845307	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:47845307C>T	ENST00000371764.4	+	8	864	c.855C>T	c.(853-855)cgC>cgT	p.R285R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R285R(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAAACCCCGCCAGGCTCCAG	0.572																																						ENST00000371764.4																			2	Substitution - coding silent(2)	p.R285R(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(853-855)cgC>cgT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							111.0	118.0	116.0					20																	47845307		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47845307C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.855C>T	20.37:g.47845307C>T						DDX27_ENST00000484427.1_3'UTR	p.R285R	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	864	+			285			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.855C>T	CCDS13416.1																																																																																				0.572	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			109	226	0	0	0	0.139131	0	109	226				
MICU1	10367	broad.mit.edu	37	10	74135571	74135571	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:74135571C>G	ENST00000361114.5	-	11	1336	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	MICU1_ENST00000398761.4_Missense_Mutation_p.D416H|MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	414	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.D414H(1)|p.D416H(1)									AACACCACATCACACACGTGG	0.537																																						ENST00000398761.4																			2	Substitution - Missense(2)	p.D414H(1)|p.D416H(1)	prostate(2)								c.(1246-1248)Gat>Cat		mitochondrial calcium uptake 1							74.0	75.0	75.0					10																	74135571		2102	4225	6327	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74135571C>G	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1240G>C	10.37:g.74135571C>G	ENSP00000354415:p.Asp414His					MICU1_ENST00000398763.4_Missense_Mutation_p.D216H|MICU1_ENST00000361114.5_Missense_Mutation_p.D414H|MICU1_ENST00000418483.2_Missense_Mutation_p.D216H|MICU1_ENST00000401998.3_Missense_Mutation_p.D414H	p.D416H			Q9BPX6	MICU1_HUMAN			13	1378	-			414			EF-hand 2.		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.1246G>C	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136449	0.77662	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998;ENST00000418483;ENST00000398763	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.75	5.75	0.90469	EF-hand-like domain (1);	0.053416	0.64402	D	0.000001	D	0.84165	0.5412	M	0.79258	2.445	0.80722	D	1	B;B;P	0.45672	0.113;0.113;0.864	B;B;B	0.43386	0.214;0.214;0.418	D	0.85832	0.1392	10	0.59425	D	0.04	.	20.0116	0.97452	0.0:1.0:0.0:0.0	.	216;216;414	Q9BPX6-4;Q9BPX6-5;Q9BPX6	.;.;MICU1_HUMAN	H	414;416;414;216;216	ENSP00000354415:D414H;ENSP00000381745:D416H;ENSP00000384068:D414H;ENSP00000402470:D216H;ENSP00000381747:D216H	ENSP00000354415:D414H	D	-	1	0	MICU1	73805577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.050000	0.71063	2.742000	0.94016	0.650000	0.86243	GAT		0.537	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		6	22	0	0	0	0.038147	0	6	22				
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:43259290G>T	ENST00000306511.4	-	4	935	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG8_ENST00000404209.4_Missense_Mutation_p.L280I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I|PSG8_ENST00000406636.3_Missense_Mutation_p.L158I	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448																																						ENST00000404209.4																			1	Substitution - Missense(1)	p.L280I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(838-840)Ctc>Atc		pregnancy specific beta-1-glycoprotein 8							73.0	79.0	77.0					19																	43259290		2202	4280	6482	SO:0001583	missense	0					extracellular region		g.chr19:43259290G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.838C>A	19.37:g.43259290G>T	ENSP00000305005:p.Leu280Ile					PSG8_ENST00000306511.4_Missense_Mutation_p.L280I|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.L158I|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I	p.L280I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	934	-		Prostate(69;0.00899)	280			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.838C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	9.920	1.211781	0.22289	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30665	0.0772	M	0.81239	2.535	0.09310	N	1	D;D;D;D;D;D	0.89917	0.994;1.0;0.972;0.999;0.982;0.986	D;D;P;D;P;D	0.91635	0.966;0.999;0.896;0.996;0.852;0.909	T	0.10543	-1.0625	9	0.42905	T	0.14	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	I	280;158;187;92;187;280	ENSP00000385869:L280I;ENSP00000385081:L158I;ENSP00000386090:L187I;ENSP00000305005:L280I	ENSP00000305005:L280I	L	-	1	0	PSG8	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			95	584	1	0	6.01484e-32	0.139131	7.42372e-32	95	584				
OR5B12	390191	broad.mit.edu	37	11	58207266	58207266	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:58207266C>T	ENST00000302572.2	-	1	380	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120H(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.433																																						ENST00000302572.2																			1	Substitution - Missense(1)	p.R120H(1)	prostate(1)	large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(358-360)cGc>cAc		olfactory receptor, family 5, subfamily B, member 12							128.0	121.0	123.0					11																	58207266		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207266C>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.359G>A	11.37:g.58207266C>T	ENSP00000306657:p.Arg120His						p.R120H	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	380	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.359G>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671700	0.67928	.	.	ENSG00000172362	ENST00000302572	T	0.77489	-1.1	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.130653	0.35525	N	0.003143	T	0.78880	0.4353	M	0.84156	2.68	0.44908	D	0.997921	P	0.37781	0.608	B	0.33521	0.165	D	0.83695	0.0179	10	0.66056	D	0.02	-10.6595	16.5752	0.84634	0.0:1.0:0.0:0.0	.	120	Q96R08	OR5BC_HUMAN	H	120	ENSP00000306657:R120H	ENSP00000306657:R120H	R	-	2	0	OR5B12	57963842	0.582000	0.26749	0.999000	0.59377	0.881000	0.50899	2.046000	0.41260	2.471000	0.83476	0.462000	0.41574	CGC		0.433	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		48	112	0	0	0	0.139131	0	48	112				
ZMYM4	9202	broad.mit.edu	37	1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:35855556A>G	ENST00000314607.6	+	15	2524	c.2444A>G	c.(2443-2445)aAa>aGa	p.K815R	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	815					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K815R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATGGCCAAATGTGATGCT	0.368																																						ENST00000314607.6																			1	Substitution - Missense(1)	p.K815R(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2443-2445)aAa>aGa		zinc finger, MYM-type 4							122.0	116.0	118.0					1																	35855556		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35855556A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2444A>G	1.37:g.35855556A>G	ENSP00000322915:p.Lys815Arg					ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	p.K815R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			15	2524	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	815					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.2444A>G	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580002	0.46006	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.21543	2.1;2.0	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	N	0.21617	0.685	0.42463	D	0.992792	B	0.23490	0.086	B	0.27715	0.082	T	0.03493	-1.1031	10	0.02654	T	1	-13.9773	15.1003	0.72269	1.0:0.0:0.0:0.0	.	815	Q5VZL5	ZMYM4_HUMAN	R	815;726	ENSP00000322915:K815R;ENSP00000362394:K726R	ENSP00000322915:K815R	K	+	2	0	ZMYM4	35628143	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.812000	0.55628	1.976000	0.57569	0.383000	0.25322	AAA		0.368	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		24	87	0	0	0	0.083992	0	24	87				
WHSC1	7468	broad.mit.edu	37	4	1976594	1976594	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:1976594G>A	ENST00000382895.3	+	21	3808	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	WHSC1_ENST00000382888.3_Missense_Mutation_p.R474H|WHSC1_ENST00000508803.1_Missense_Mutation_p.R1126H|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1126H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1126H|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1126	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTACAGGACCGTATAATAGAC	0.428			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(3376-3378)cGt>cAt		Wolf-Hirschhorn syndrome candidate 1							115.0	114.0	114.0					4																	1976594		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1976594G>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3377G>A	4.37:g.1976594G>A	ENSP00000372351:p.Arg1126His					WHSC1_ENST00000508803.1_Missense_Mutation_p.R1126H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1126H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R474H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1126H	p.R1126H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	21	3808	+		all_epithelial(65;1.34e-05)	1126			SET.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3377G>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253460	0.80135	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	4.96	4.96	0.65561	SET domain (3);	0.000000	0.49916	D	0.000130	D	0.93572	0.7948	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.907;1.0	D	0.93652	0.6974	10	0.56958	D	0.05	.	18.3824	0.90455	0.0:0.0:1.0:0.0	.	474;1126	A2A2T2;O96028	.;NSD2_HUMAN	H	1126;1126;1126;1126;474	ENSP00000423972:R1126H;ENSP00000372347:R1126H;ENSP00000372348:R1126H;ENSP00000372351:R1126H;ENSP00000372344:R474H	ENSP00000372344:R474H	R	+	2	0	WHSC1	1946392	1.000000	0.71417	0.962000	0.40283	0.322000	0.28314	9.575000	0.98187	2.587000	0.87381	0.467000	0.42956	CGT		0.428	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		4	220	0	0	0	0.150653	0	4	220				
ZNF492	57615	broad.mit.edu	37	19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22836734C>A	ENST00000456783.2	+	3	291	c.47C>A	c.(46-48)tCt>tAt	p.S16Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	16	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)	p.S16Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTGCTGCCTCTAAGCCAGAC	0.398																																						ENST00000456783.2																			1	Substitution - Missense(1)	p.S16Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(46-48)tCt>tAt		zinc finger protein 492							50.0	59.0	56.0					19																	22836734		2182	4274	6456	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836734C>A	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.47C>A	19.37:g.22836734C>A	ENSP00000413660:p.Ser16Tyr						p.S16Y	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	291	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	16			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.47C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452477	0.26074	.	.	ENSG00000229676	ENST00000456783	T	0.00864	5.6	0.458	0.458	0.16670	Krueppel-associated box (3);	.	.	.	.	T	0.03477	0.0100	M	0.87097	2.86	0.09310	N	1	D	0.55605	0.972	P	0.53549	0.729	T	0.24799	-1.0150	8	0.87932	D	0	.	.	.	.	.	16	Q9P255	ZN492_HUMAN	Y	16	ENSP00000413660:S16Y	ENSP00000413660:S16Y	S	+	2	0	ZNF492	22628574	0.553000	0.26513	0.276000	0.24689	0.263000	0.26337	1.097000	0.30988	0.482000	0.27582	0.484000	0.47621	TCT		0.398	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		14	151	1	0	3.8784e-16	0.062417	4.58053e-16	14	151				
PCDHB2	56133	broad.mit.edu	37	5	140476346	140476346	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:140476346G>A	ENST00000194155.4	+	1	2120	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	658	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A658T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711																																						ENST00000194155.4																			1	Substitution - Missense(1)	p.A658T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1972-1974)Gcc>Acc									35.0	35.0	35.0					5																	140476346		1915	3814	5729	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476346G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1972G>A	5.37:g.140476346G>A	ENSP00000194155:p.Ala658Thr						p.A658T	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2120	+			658			Cadherin 6.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1972G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104468	0.37145	.	.	ENSG00000112852	ENST00000194155	T	0.50548	0.74	3.99	3.99	0.46301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.44871	0.1314	L	0.49571	1.57	0.28971	N	0.889222	B	0.29590	0.25	B	0.24848	0.056	T	0.50406	-0.8832	9	0.66056	D	0.02	.	16.1298	0.81418	0.0:0.0:1.0:0.0	.	658	Q9Y5E7	PCDB2_HUMAN	T	658	ENSP00000194155:A658T	ENSP00000194155:A658T	A	+	1	0	PCDHB2	140456530	0.260000	0.24053	1.000000	0.80357	0.344000	0.29017	3.030000	0.49720	1.921000	0.55644	0.456000	0.33151	GCC		0.711	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		23	58	0	0	0	0.108266	0	23	58				
NAT8L	339983	broad.mit.edu	37	4	2065543	2065543	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:2065543C>T	ENST00000423729.2	+	3	598	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	NAT8L_ENST00000331662.3_Missense_Mutation_p.R32W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	200	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGTGGCTGCACGGGCCCACGA	0.662																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(598-600)Cgg>Tgg		N-acetyltransferase 8-like (GCN5-related, putative)							68.0	55.0	59.0					4																	2065543		2202	4300	6502	SO:0001583	missense	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065543C>T	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.598C>T	4.37:g.2065543C>T	ENSP00000413064:p.Arg200Trp					NAT8L_ENST00000331662.3_Missense_Mutation_p.R32W	p.R200W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	598	+			200			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000423729.2	37	c.598C>T	CCDS3359.2	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662507	0.67700	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.24350	1.86;1.86	5.54	4.69	0.59074	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.300322	0.27891	U	0.017434	T	0.46171	0.1379	L	0.60455	1.87	0.53005	D	0.999969	D	0.89917	1.0	D	0.70935	0.971	T	0.44483	-0.9325	10	0.66056	D	0.02	-9.7079	13.8721	0.63626	0.2775:0.7225:0.0:0.0	.	200	Q8N9F0	NAT8L_HUMAN	W	200;32	ENSP00000413064:R200W;ENSP00000328464:R32W	ENSP00000328464:R32W	R	+	1	2	NAT8L	2035341	0.921000	0.31238	0.919000	0.36401	0.483000	0.33249	1.978000	0.40598	1.322000	0.45245	-0.553000	0.04205	CGG		0.662	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		4	101	0	0	0	0.150653	0	4	101				
DYNC2H1	79659	broad.mit.edu	37	11	103090670	103090670	+	Silent	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:103090670T>G	ENST00000375735.2	+	56	9003	c.8859T>G	c.(8857-8859)ctT>ctG	p.L2953L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2953L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2953	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L386L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACAGAACTTGAAAGACTGA	0.259																																						ENST00000375735.2																			1	Substitution - coding silent(1)	p.L386L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(8857-8859)ctT>ctG		dynein, cytoplasmic 2, heavy chain 1							43.0	41.0	41.0					11																	103090670		1786	4044	5830	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103090670T>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8859T>G	11.37:g.103090670T>G						DYNC2H1_ENST00000398093.3_Silent_p.L2953L|DYNC2H1_ENST00000334267.7_Intron	p.L2953L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	56	9003	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2953			Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.8859T>G	CCDS53701.1																																																																																				0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	8	0	0	0	0.115264	0	3	8				
TSPAN7	7102	broad.mit.edu	37	X	38540490	38540490	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:38540490G>C	ENST00000378482.2	+	6	807	c.630G>C	c.(628-630)gaG>gaC	p.E210D	TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	210					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.E210D(2)|p.E205D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTTCATGGAGACTAACATGG	0.478																																						ENST00000378482.2																			3	Substitution - Missense(3)	p.E210D(2)|p.E205D(1)	prostate(3)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(628-630)gaG>gaC		tetraspanin 7							201.0	166.0	178.0					X																	38540490		2202	4300	6502	SO:0001583	missense	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38540490G>C	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.630G>C	X.37:g.38540490G>C	ENSP00000367743:p.Glu210Asp					TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D	p.E210D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN			6	807	+			210					B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	c.630G>C	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394450	0.83011	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.0	5.0	0.66597	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	M	0.78916	2.43	0.80722	D	1	P;P;P	0.51240	0.943;0.771;0.943	P;P;P	0.53722	0.733;0.53;0.733	D	0.87501	0.2433	9	.	.	.	.	17.6913	0.88269	0.0:0.0:1.0:0.0	.	227;236;210	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	D	240;210;236;227;184	ENSP00000417050:E240D;ENSP00000367743:E210D;ENSP00000388954:E236D;ENSP00000286824:E227D;ENSP00000441540:E184D	.	E	+	3	2	RP5-972B16.2;TSPAN7	38425434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.368000	0.52357	2.453000	0.82957	0.600000	0.82982	GAG		0.478	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			59	105	0	0	0	0.139131	0	59	105				
ZNF536	9745	broad.mit.edu	37	19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:31039026A>G	ENST00000355537.3	+	4	2647	c.2500A>G	c.(2500-2502)Agg>Ggg	p.R834G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	834					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R834G(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGTTCATCAGGCCAGACAT	0.587																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.R834G(1)	prostate(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2500-2502)Agg>Ggg		zinc finger protein 536							71.0	79.0	76.0					19																	31039026		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039026A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2500A>G	19.37:g.31039026A>G	ENSP00000347730:p.Arg834Gly						p.R834G	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2647	+	Esophageal squamous(110;0.0834)		834					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2500A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213363	0.39102	.	.	ENSG00000198597	ENST00000355537	T	0.09911	2.93	5.98	2.67	0.31697	.	0.045704	0.85682	D	0.000000	T	0.19927	0.0479	L	0.34521	1.04	0.43164	D	0.994952	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.00376	-1.1779	10	0.25106	T	0.35	-36.8699	13.871	0.63619	0.6411:0.3589:0.0:0.0	.	834;834	A7E228;O15090	.;ZN536_HUMAN	G	834	ENSP00000347730:R834G	ENSP00000347730:R834G	R	+	1	2	ZNF536	35730866	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	2.408000	0.44574	0.111000	0.17947	0.482000	0.46254	AGG		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	225	0	0	0	0.029380	0	5	225				
LRIG2	9860	broad.mit.edu	37	1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:113655223A>G	ENST00000361127.5	+	14	2119	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	641	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T641A(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGGTGGTACTGACTTTCC	0.493																																						ENST00000361127.4																			2	Substitution - Missense(2)	p.T641A(2)	prostate(2)	breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1921-1923)Act>Gct		leucine-rich repeats and immunoglobulin-like domains 2							142.0	129.0	133.0					1																	113655223		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655223A>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1921A>G	1.37:g.113655223A>G	ENSP00000355396:p.Thr641Ala					LRIG2_ENST00000492207.1_3'UTR	p.T641A	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2119	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	641			Ig-like C2-type 2.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1921A>G	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	32	5.166345	0.94768	.	.	ENSG00000198799	ENST00000361127	T	0.66280	-0.2	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	N	0.26130	0.795	0.50813	D	0.999899	P	0.51933	0.949	P	0.60886	0.88	T	0.65500	-0.6153	10	0.62326	D	0.03	.	15.5171	0.75833	1.0:0.0:0.0:0.0	.	641	O94898	LRIG2_HUMAN	A	641	ENSP00000355396:T641A	ENSP00000355396:T641A	T	+	1	0	LRIG2	113456746	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.474000	0.81024	2.070000	0.61991	0.482000	0.46254	ACT		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		5	201	0	0	0	0.021553	0	5	201				
VWCE	220001	broad.mit.edu	37	11	61034970	61034970	+	Silent	SNP	C	C	T	rs192323431		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:61034970C>T	ENST00000335613.5	-	16	2315	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	VWCE_ENST00000535710.1_Silent_p.P108P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P643P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCAGCACAGACGGGAAGGTCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17829	0.0		0.001	False		,,,				2504	0.0					ENST00000335613.5																			1	Substitution - coding silent(1)	p.P643P(1)	prostate(1)	biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1927-1929)ccG>ccA		von Willebrand factor C and EGF domains							141.0	113.0	123.0					11																	61034970		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61034970C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1929G>A	11.37:g.61034970C>T						VWCE_ENST00000535710.1_Silent_p.P108P	p.P643P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			16	2315	-			643			VWFC 5.		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.1929G>A	CCDS8002.1																																																																																				0.597	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		40	83	0	0	0	0.080422	0	40	83				
ABCB5	340273	broad.mit.edu	37	7	20685387	20685387	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I	ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000443026.2_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	229	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(685-687)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							124.0	113.0	116.0					7																	20685387		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20685387C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.687C>T	7.37:g.20685387C>T							p.I229I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			8	1339	+			415					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.687C>T	CCDS55090.1																																																																																				0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		4	231	0	0	0	0.014758	0	4	231				
ZC3H6	376940	broad.mit.edu	37	2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:113089935A>G	ENST00000409871.1	+	12	3841	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1147							metal ion binding (GO:0046872)	p.D1147G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTACAGTGATCCAAGGCAG	0.517																																						ENST00000409871.1																			1	Substitution - Missense(1)	p.D1147G(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3439-3441)gAt>gGt		zinc finger CCCH-type containing 6							38.0	45.0	43.0					2																	113089935		1974	4168	6142	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089935A>G	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3440A>G	2.37:g.113089935A>G	ENSP00000386764:p.Asp1147Gly					ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	p.D1147G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3841	+			1147					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.3440A>G	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643819	0.67244	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.16743	2.32;2.32	5.31	5.31	0.75309	.	0.155439	0.39083	N	0.001475	T	0.40015	0.1100	M	0.65498	2.005	0.54753	D	0.99998	D	0.76494	0.999	D	0.69654	0.965	T	0.28332	-1.0047	10	0.87932	D	0	-12.0768	15.2583	0.73601	1.0:0.0:0.0:0.0	.	1147	P61129	ZC3H6_HUMAN	G	1147	ENSP00000386764:D1147G;ENSP00000340298:D1147G	ENSP00000340298:D1147G	D	+	2	0	ZC3H6	112806406	1.000000	0.71417	0.783000	0.31826	0.986000	0.74619	8.664000	0.91139	1.991000	0.58162	0.533000	0.62120	GAT		0.517	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		6	149	0	0	0	0.021553	0	6	149				
C20orf194	25943	broad.mit.edu	37	20	3251194	3251194	+	Missense_Mutation	SNP	C	C	T	rs368282556		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:3251194C>T	ENST00000252032.9	-	30	2732	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	889								p.V889M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTGAATACCACGTTACTCACC	0.557																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.V889M(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2665-2667)Gtg>Atg		chromosome 20 open reading frame 194							47.0	52.0	50.0					20																	3251194		2151	4258	6409	SO:0001583	missense	25943							g.chr20:3251194C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2665G>A	20.37:g.3251194C>T	ENSP00000252032:p.Val889Met					C20orf194_ENST00000453730.2_3'UTR	p.V889M	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			30	2732	-			889					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2665G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164435	0.78339	.	.	ENSG00000088854	ENST00000252032	T	0.25912	1.77	5.26	5.26	0.73747	.	0.067883	0.56097	D	0.000021	T	0.50086	0.1595	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51180	-0.8738	10	0.87932	D	0	.	18.8657	0.92292	0.0:1.0:0.0:0.0	.	628;889	Q0IIP3;Q5TEA3	.;CT194_HUMAN	M	889	ENSP00000252032:V889M	ENSP00000252032:V889M	V	-	1	0	C20orf194	3199194	0.996000	0.38824	0.993000	0.49108	0.852000	0.48524	3.610000	0.54125	2.450000	0.82876	0.643000	0.83706	GTG		0.557	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		11	103	0	0	0	0.069234	0	11	103				
CDH6	1004	broad.mit.edu	37	5	31317551	31317551	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:31317551G>A	ENST00000265071.2	+	10	1847	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	CDH6_ENST00000514738.1_Missense_Mutation_p.A473T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	528	Cadherin 5. {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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A528T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTTCCTTGGCCCCTGAAGC	0.413																																						ENST00000265071.2																			1	Substitution - Missense(1)	p.A528T(1)	prostate(1)	NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1582-1584)Gcc>Acc		cadherin 6, type 2, K-cadherin (fetal kidney)							90.0	88.0	88.0					5																	31317551		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317551G>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1582G>A	5.37:g.31317551G>A	ENSP00000265071:p.Ala528Thr					CDH6_ENST00000514738.1_Missense_Mutation_p.A473T	p.A528T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			10	1847	+			528			Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1582G>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154431	0.57259	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.51325	0.71;0.71	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.354854	0.32473	N	0.006041	T	0.50257	0.1605	L	0.43646	1.37	0.58432	D	0.999998	P;P	0.48998	0.918;0.846	P;P	0.49451	0.604;0.611	T	0.38415	-0.9662	10	0.26408	T	0.33	.	18.3208	0.90238	0.0:0.0:1.0:0.0	.	528;528	P55285;P55285-2	CADH6_HUMAN;.	T	473;528	ENSP00000424843:A473T;ENSP00000265071:A528T	ENSP00000265071:A528T	A	+	1	0	CDH6	31353308	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.921000	0.70028	2.621000	0.88768	0.650000	0.86243	GCC		0.413	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		51	163	0	0	0	0.139131	0	51	163				
GNAO1	2775	broad.mit.edu	37	16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:56362633T>C	ENST00000262493.6	+	4	1240	c.394T>C	c.(394-396)Tgg>Cgg	p.W132R	GNAO1_ENST00000262494.7_Missense_Mutation_p.W132R	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	132					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)	p.W132R(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GATGCGGCTCTGGGGCGACTC	0.587																																						ENST00000262494.7																			3	Substitution - Missense(3)	p.W132R(3)	prostate(3)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(394-396)Tgg>Cgg		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							88.0	80.0	83.0					16																	56362633		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56362633T>C		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.394T>C	16.37:g.56362633T>C	ENSP00000262493:p.Trp132Arg					GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R	p.W132R	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			4	654	+		all_neural(199;0.159)	132					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.394T>C	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303420	0.81136	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.93659	-3.26;-3.26	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99517	1.0957	10	0.87932	D	0	.	14.6119	0.68522	0.0:0.0:0.0:1.0	.	132;132	P09471;P09471-2	GNAO_HUMAN;.	R	132	ENSP00000262493:W132R;ENSP00000262494:W132R	ENSP00000262493:W132R	W	+	1	0	GNAO1	54920134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	1.846000	0.53633	0.379000	0.24179	TGG		0.587	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		16	91	0	0	0	0.132662	0	16	91				
RYR3	6263	broad.mit.edu	37	15	33990173	33990173	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:33990173C>T	ENST00000389232.4	+	40	6295	c.6225C>T	c.(6223-6225)aaC>aaT	p.N2075N	RYR3_ENST00000415757.3_Silent_p.N2075N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2075	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.N2075N(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGGTGAACGTGTTGGGTA	0.493																																						ENST00000389232.4																			2	Substitution - coding silent(2)	p.N2075N(2)	prostate(2)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6223-6225)aaC>aaT		ryanodine receptor 3							197.0	191.0	193.0					15																	33990173		2087	4239	6326	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33990173C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6225C>T	15.37:g.33990173C>T						RYR3_ENST00000415757.3_Silent_p.N2075N	p.N2075N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	40	6295	+		all_lung(180;7.18e-09)	2075			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6225C>T	CCDS45210.1																																																																																				0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			47	212	0	0	0	0.139131	0	47	212				
SPEN	23013	broad.mit.edu	37	1	16257094	16257094	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16257094C>T	ENST00000375759.3	+	11	4563	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1453					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1453S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTAAATCCCTCTCTTCAT	0.363																																						ENST00000375759.3																			1	Substitution - coding silent(1)	p.S1453S(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4357-4359)tcC>tcT		spen family transcriptional repressor							76.0	80.0	79.0					1																	16257094		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257094C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4359C>T	1.37:g.16257094C>T							p.S1453S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4563	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1453					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.4359C>T	CCDS164.1																																																																																				0.363	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		66	163	0	0	0	0.139131	0	66	163				
PON2	5445	broad.mit.edu	37	7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:95053856A>G	ENST00000222572.3	-	2	362	c.116T>C	c.(115-117)cTt>cCt	p.L39P	PON2_ENST00000536183.1_Missense_Mutation_p.L60P|PON2_ENST00000433091.2_Missense_Mutation_p.L39P			Q15165	PON2_HUMAN	paraoxonase 2	39					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L39P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCAGTGTGGAAGGTCTACAGA	0.333																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			1	Substitution - Missense(1)	p.L39P(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(178-180)cTt>cCt		paraoxonase 2							132.0	124.0	127.0					7																	95053856		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95053856A>G	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.116T>C	7.37:g.95053856A>G	ENSP00000222572:p.Leu39Pro					PON2_ENST00000222572.3_Missense_Mutation_p.L39P|PON2_ENST00000433091.2_Missense_Mutation_p.L39P	p.L60P	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	362	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		39					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.179T>C	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392271	0.25118	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.42513	0.97;0.97;0.97	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	N	0.05467	-0.045	0.80722	D	1	B;B	0.29671	0.254;0.254	B;B	0.30855	0.121;0.121	T	0.09862	-1.0655	10	0.25106	T	0.35	-9.1417	10.6205	0.45476	1.0:0.0:0.0:0.0	.	39;39	A4D1H7;Q15165	.;PON2_HUMAN	P	60;37;39;39	ENSP00000440282:L60P;ENSP00000404622:L39P;ENSP00000222572:L39P	ENSP00000222572:L39P	L	-	2	0	PON2	94891792	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.499000	0.60380	2.075000	0.62263	0.377000	0.23210	CTT		0.333	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		16	183	0	0	0	0.160694	0	16	183				
BTN3A1	11119	broad.mit.edu	37	6	26407900	26407900	+	Splice_Site	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26407900A>T	ENST00000289361.6	+	4	803	c.435A>T	c.(433-435)gcA>gcT	p.A145A	BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Splice_Site_p.A145A|BTN3A1_ENST00000425234.2_Splice_Site_p.A145A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	145	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A145A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACAGCACTGGGTTCTG	0.473																																						ENST00000289361.6																			1	Substitution - coding silent(1)	p.A145A(1)	prostate(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e4-1		butyrophilin, subfamily 3, member A1							85.0	74.0	78.0					6																	26407900		2203	4300	6503	SO:0001630	splice_region_variant	0				lipid metabolic process	integral to membrane		g.chr6:26407900A>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.434-1A>T	6.37:g.26407900A>T						BTN3A1_ENST00000425234.2_Splice_Site_p.A145_splice|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Splice_Site_p.A145_splice	p.A145_splice	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			4	803	+			145			Ig-like V-type 2.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Splice_Site	SNP	ENST00000289361.6	37	c.433_splice	CCDS4608.1																																																																																				0.473	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3		Silent	4	111	0	0	0	0.150653	0	4	111				
DPP3	10072	broad.mit.edu	37	11	66259193	66259193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:66259193C>T	ENST00000360510.2	+	9	1019	c.954C>T	c.(952-954)taC>taT	p.Y318Y	DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000453114.1_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000532677.1_Silent_p.Y337Y			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	318					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y318Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGAGAGCTACCGCGACCCCT	0.612																																						ENST00000532677.1																			1	Substitution - coding silent(1)	p.Y318Y(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1009-1011)taC>taT		dipeptidyl-peptidase 3							165.0	168.0	167.0					11																	66259193		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259193C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.954C>T	11.37:g.66259193C>T						DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000453114.1_Silent_p.Y318Y	p.Y337Y	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			9	1412	+			318					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.1011C>T	CCDS8141.1																																																																																				0.612	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			6	390	0	0	0	0.029380	0	6	390				
PTEN	5728	broad.mit.edu	37	10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	rs139767111		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:89692871G>T	ENST00000371953.3	+	5	1712	c.355G>T	c.(355-357)Gtt>Ttt	p.V119F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	119	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		V -> L (in multiple cancers). {ECO:0000269|PubMed:10807691}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGACAATCATGTTGCAGCAAT	0.403		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(2)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)	prostate(17)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM001318	PTEN	M	rs139767111	c.(355-357)Gtt>Ttt		phosphatase and tensin homolog							137.0	126.0	130.0					10																	89692871		2203	4298	6501	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692871G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.355G>T	10.37:g.89692871G>T	ENSP00000361021:p.Val119Phe	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.V119F	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1712	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	119		V -> L (in multiple cancers).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.355G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037334	0.93630	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	H	0.97214	3.96	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98043	1.0383	9	.	.	.	-4.8547	18.7776	0.91918	0.0:0.0:1.0:0.0	.	119	P60484	PTEN_HUMAN	F	119	ENSP00000361021:V119F	.	V	+	1	0	PTEN	89682851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GTT		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		58	83	1	0	5.00936e-31	0.139131	6.12752e-31	58	83				
SLC4A8	9498	broad.mit.edu	37	12	51883662	51883662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:51883662G>A	ENST00000453097.2	+	19	2844	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R903Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGCATCCGAGAACAGAGA	0.473																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2626-2628)cGa>cAa		solute carrier family 4, sodium bicarbonate cotransporter, member 8							143.0	132.0	136.0					12																	51883662		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51883662G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2627G>A	12.37:g.51883662G>A	ENSP00000405812:p.Arg876Gln					SLC4A8_ENST00000358657.3_Missense_Mutation_p.R903Q	p.R876Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	19	2844	+			876						Missense_Mutation	SNP	ENST00000453097.2	37	c.2627G>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760873	0.69763	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.81163	-1.46;-1.46	5.17	5.17	0.71159	Bicarbonate transporter, C-terminal (1);	0.061232	0.64402	D	0.000003	D	0.84065	0.5390	M	0.69358	2.11	0.80722	D	1	P;P;P	0.49783	0.812;0.928;0.912	B;P;P	0.48921	0.261;0.595;0.538	D	0.86326	0.1695	10	0.72032	D	0.01	.	17.8274	0.88669	0.0:0.0:1.0:0.0	.	903;876;876	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	Q	903;876;876;823	ENSP00000351483:R903Q;ENSP00000405812:R876Q	ENSP00000315789:R876Q	R	+	2	0	SLC4A8	50169929	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.984000	0.88150	2.574000	0.86865	0.491000	0.48974	CGA		0.473	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		5	329	0	0	0	0.021553	0	5	329				
SUMF2	25870	broad.mit.edu	37	7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:56142370G>A	ENST00000413756.1	+	5	499	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000434526.2_Missense_Mutation_p.R178Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	159					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)	p.R159L(1)|p.R178L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTGCTTGGCGGGGAAAACGA	0.587											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			2	Substitution - Missense(2)	p.R159L(1)|p.R178L(1)	lung(2)	breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(532-534)cGg>cAg		sulfatase modifying factor 2							95.0	96.0	96.0					7																	56142370		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142370G>A	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.476G>A	7.37:g.56142370G>A	ENSP00000406445:p.Arg159Gln		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000395435.2_Intron	p.R178Q	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	564	+	Breast(14;0.214)		159					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.533G>A		.	.	.	.	.	.	.	.	.	.	G	16.50	3.140926	0.56936	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.39	2.44	0.29823	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.378761	0.29113	N	0.013113	T	0.28234	0.0697	L	0.48935	1.535	0.30202	N	0.798556	B;B;B	0.30741	0.293;0.225;0.241	B;B;B	0.15870	0.014;0.013;0.005	T	0.25328	-1.0135	10	0.66056	D	0.02	-25.4066	4.1729	0.10337	0.3643:0.0:0.485:0.1507	.	163;159;178	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	Q	163;178;71;181;178;159;176	ENSP00000378824:R163Q;ENSP00000400922:R178Q;ENSP00000275607:R71Q;ENSP00000414434:R181Q;ENSP00000341938:R178Q;ENSP00000406445:R159Q;ENSP00000410796:R176Q	ENSP00000275607:R71Q	R	+	2	0	SUMF2	56109864	0.992000	0.36948	0.995000	0.50966	0.962000	0.63368	1.069000	0.30641	0.278000	0.22164	0.591000	0.81541	CGG		0.587	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		5	226	0	0	0	0.014758	0	5	226				
G2E3	55632	broad.mit.edu	37	14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:31066642C>T	ENST00000206595.6	+	7	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V|G2E3_ENST00000438909.2_Missense_Mutation_p.A136V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A182V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313																																						ENST00000206595.6																			1	Substitution - Missense(1)	p.A182V(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(544-546)gCg>gTg		G2/M-phase specific E3 ubiquitin protein ligase							147.0	164.0	158.0					14																	31066642		2203	4299	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31066642C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.545C>T	14.37:g.31066642C>T	ENSP00000206595:p.Ala182Val					G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.A136V|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V	p.A182V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			7	699	+			182					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.545C>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216967	0.95104	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.62941	-0.01;-0.01;-0.01	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.934;0.996	D	0.83933	0.0307	10	0.66056	D	0.02	-16.4834	20.1169	0.97940	0.0:1.0:0.0:0.0	.	136;182	B4DIF9;Q7L622	.;G2E3_HUMAN	V	182;136;212	ENSP00000206595:A182V;ENSP00000391068:A136V;ENSP00000451653:A212V	ENSP00000206595:A182V	A	+	2	0	G2E3	30136393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.774000	0.75012	2.835000	0.97688	0.591000	0.81541	GCG		0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		9	380	0	0	0	0.058154	0	9	380				
TAS2R16	50833	broad.mit.edu	37	7	122635274	122635274	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:122635274C>A	ENST00000249284.2	-	1	480	c.415G>T	c.(415-417)Gta>Tta	p.V139L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	139					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.V139L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATTGTTACACAAGTAATC	0.403																																						ENST00000249284.2																			1	Substitution - Missense(1)	p.V139L(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(415-417)Gta>Tta		taste receptor, type 2, member 16							129.0	124.0	126.0					7																	122635274		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635274C>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.415G>T	7.37:g.122635274C>A	ENSP00000249284:p.Val139Leu						p.V139L	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	480	-			139					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.415G>T	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.139574	0.01728	.	.	ENSG00000128519	ENST00000249284	T	0.35421	1.31	4.56	0.134	0.14771	.	0.919034	0.08945	N	0.871040	T	0.19644	0.0472	N	0.20483	0.58	0.09310	N	1	B	0.21520	0.057	B	0.26094	0.066	T	0.32981	-0.9886	10	0.07030	T	0.85	.	6.7869	0.23677	0.3423:0.3458:0.3119:0.0	.	139	Q9NYV7	T2R16_HUMAN	L	139	ENSP00000249284:V139L	ENSP00000249284:V139L	V	-	1	0	TAS2R16	122422510	0.000000	0.05858	0.008000	0.14137	0.029000	0.11900	-0.197000	0.09518	0.208000	0.20626	-0.176000	0.13171	GTA		0.403	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		4	171	1	0	0.150653	0.150653	0.158766	4	171				
ATM	472	broad.mit.edu	37	11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:108205768G>A	ENST00000452508.2	+	56	8272	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2695S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). {ECO:0000269|PubMed:10023947, ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTAGCAGGAGGTGTAAATTT	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		6	Substitution - Missense(6)	p.G2695S(4)|p.G2695C(2)	lung(4)|prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8083-8085)Ggt>Agt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							101.0	100.0	100.0					11																	108205768		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108205768G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8083G>A	11.37:g.108205768G>A	ENSP00000388058:p.Gly2695Ser	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.G2695S|C11orf65_ENST00000525729.1_Intron	p.G2695S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	55	8468	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2695		G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8083G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.908021	0.97093	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94232	-3.38;-3.38	5.67	5.67	0.87782	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.31065	0.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94347	0.7576	10	0.44086	T	0.13	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	2695	Q13315	ATM_HUMAN	S	2695	ENSP00000278616:G2695S;ENSP00000388058:G2695S	ENSP00000278616:G2695S	G	+	1	0	ATM	107710978	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.107000	0.94261	2.680000	0.91292	0.655000	0.94253	GGT		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	185	0	0	0	0.108266	0	28	185				
SKIV2L2	23517	broad.mit.edu	37	5	54635836	54635836	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:54635836A>G	ENST00000230640.5	+	6	769		c.e6-1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCACATTTGTAGGTATGCCAT	0.303																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			1	Unknown(1)	p.?(1)	prostate(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e6-1		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							83.0	79.0	80.0					5																	54635836		2203	4300	6503	SO:0001630	splice_region_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54635836A>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.516-1A>G	5.37:g.54635836A>G						SKIV2L2_ENST00000545714.1_Splice_Site		NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			6	769	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)						Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Splice_Site	SNP	ENST00000230640.5	37		CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431492	0.83776	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4566	0.84019	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKIV2L2	54671593	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	9.006000	0.93592	2.293000	0.77203	0.477000	0.44152	.		0.303	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		Intron	25	120	0	0	0	0.083992	0	25	120				
SEMA3D	223117	broad.mit.edu	37	7	84694822	84694822	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			1	Substitution - coding silent(1)	p.D212D(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(634-636)gaT>gaC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							133.0	117.0	122.0					7																	84694822		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84694822A>G	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.636T>C	7.37:g.84694822A>G						SEMA3D_ENST00000444867.1_Silent_p.D212D	p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			6	679	-			212			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.636T>C	CCDS34676.1																																																																																				0.423	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		6	95	0	0	0	0.021553	0	6	95				
KIF5A	3798	broad.mit.edu	37	12	57962799	57962799	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:57962799C>T	ENST00000455537.2	+	9	1042	c.768C>T	c.(766-768)aaC>aaT	p.N256N	KIF5A_ENST00000286452.5_Silent_p.N167N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	256	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.		Missing (in SPG10). {ECO:0000269|PubMed:18245137}.|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover). {ECO:0000269|PubMed:12355402}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.N256N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAATATCAACAAGTCACTGT	0.557																																						ENST00000455537.2																			1	Substitution - coding silent(1)	p.N256N(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62	GRCh37	CD083326	KIF5A	D		c.(766-768)aaC>aaT		kinesin family member 5A							179.0	131.0	148.0					12																	57962799		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57962799C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.768C>T	12.37:g.57962799C>T						KIF5A_ENST00000286452.5_Silent_p.N167N	p.N256N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			9	1042	+			256		Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover).	Kinesin-motor.|Microtubule-binding.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.768C>T	CCDS8945.1																																																																																				0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		16	97	0	0	0	0.160694	0	16	97				
SKAP1	8631	broad.mit.edu	37	17	46262165	46262165	+	Missense_Mutation	SNP	G	G	A	rs573034197		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:46262165G>A	ENST00000336915.6	-	7	556	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R163W(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGCCATCCGTACACCGTAG	0.542																																						ENST00000336915.6																			1	Substitution - Missense(1)	p.R163W(1)	prostate(1)	large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(487-489)Cgg>Tgg		src kinase associated phosphoprotein 1							125.0	106.0	112.0					17																	46262165		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46262165G>A	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.487C>T	17.37:g.46262165G>A	ENSP00000338171:p.Arg163Trp					SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W	p.R163W	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN			7	556	-			163			PH.		D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.487C>T	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396557	0.83011	.	.	ENSG00000141293	ENST00000336915	T	0.77489	-1.1	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.211232	0.41194	D	0.000939	D	0.86781	0.6015	M	0.67397	2.05	0.45046	D	0.998066	D;D	0.89917	1.0;1.0	P;D	0.65443	0.863;0.935	D	0.87835	0.2647	10	0.72032	D	0.01	-53.9291	18.7013	0.91621	0.0:0.0:1.0:0.0	.	163;163	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	W	163	ENSP00000338171:R163W	ENSP00000338171:R163W	R	-	1	2	SKAP1	43617164	1.000000	0.71417	0.982000	0.44146	0.912000	0.54170	3.289000	0.51747	2.509000	0.84616	0.557000	0.71058	CGG		0.542	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		29	165	0	0	0	0.163468	0	29	165				
REG3G	130120	broad.mit.edu	37	2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:79255008C>G	ENST00000272324.5	+	5	593	c.409C>G	c.(409-411)Ccc>Gcc	p.P137A	REG3G_ENST00000409471.1_Missense_Mutation_p.P91A|REG3G_ENST00000393897.2_Missense_Mutation_p.P137A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	137	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P137A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGAAAAATCCCTCCACCAT	0.517																																						ENST00000272324.5																			1	Substitution - Missense(1)	p.P137A(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(409-411)Ccc>Gcc		regenerating islet-derived 3 gamma							140.0	137.0	138.0					2																	79255008		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255008C>G	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.409C>G	2.37:g.79255008C>G	ENSP00000272324:p.Pro137Ala					REG3G_ENST00000409471.1_Missense_Mutation_p.P91A|REG3G_ENST00000393897.2_Missense_Mutation_p.P137A	p.P137A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			5	593	+			137			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.409C>G	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956294	0.18507	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16743	2.32;2.32;2.32	4.64	3.7	0.42460	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.268702	0.27039	N	0.021226	T	0.32526	0.0832	L	0.52905	1.665	0.09310	N	0.999999	D;D	0.89917	1.0;0.961	D;P	0.97110	1.0;0.774	T	0.01925	-1.1246	10	0.41790	T	0.15	.	10.2157	0.43166	0.0:0.7984:0.2016:0.0	.	91;137	Q3SYE6;Q6UW15	.;REG3G_HUMAN	A	137;137;91	ENSP00000377475:P137A;ENSP00000272324:P137A;ENSP00000387105:P91A	ENSP00000272324:P137A	P	+	1	0	REG3G	79108516	0.120000	0.22244	0.119000	0.21687	0.005000	0.04900	1.802000	0.38853	2.578000	0.87016	0.655000	0.94253	CCC		0.517	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		70	183	0	0	0	0.139131	0	70	183				
HELB	92797	broad.mit.edu	37	12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:66696411C>A	ENST00000247815.4	+	1	87	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	10					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.Q10K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCTGCGCCAACTTCAGGG	0.557																																						ENST00000247815.4																			1	Substitution - Missense(1)	p.Q10K(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(28-30)Caa>Aaa		helicase (DNA) B							79.0	74.0	76.0					12																	66696411		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66696411C>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.28C>A	12.37:g.66696411C>A	ENSP00000247815:p.Gln10Lys						p.Q10K	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	1	87	+			10					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.28C>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939323	0.34189	.	.	ENSG00000127311	ENST00000247815	T	0.10860	2.83	4.95	0.645	0.17782	.	0.873151	0.10155	N	0.709133	T	0.08714	0.0216	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.37407	-0.9707	9	.	.	.	-5.3572	15.5468	0.76108	0.0:0.6877:0.3123:0.0	.	10	Q8NG08	HELB_HUMAN	K	10	ENSP00000247815:Q10K	.	Q	+	1	0	HELB	64982678	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.649000	0.24843	0.007000	0.14760	-0.311000	0.09066	CAA		0.557	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			6	116	1	0	5.18039e-06	0.038147	5.91428e-06	6	116				
CDC7	8317	broad.mit.edu	37	1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:91989955C>A	ENST00000428239.1	+	12	1947	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	CDC7_ENST00000234626.6_Missense_Mutation_p.A563D|CDC7_ENST00000430031.2_Missense_Mutation_p.A535D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A563D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCAGAAGAAGCTTTGTTGCAT	0.328																																						ENST00000428239.1																			2	Substitution - Missense(2)	p.A563D(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(1687-1689)gCt>gAt		cell division cycle 7							97.0	102.0	100.0					1																	91989955		2202	4300	6502	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91989955C>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1688C>A	1.37:g.91989955C>A	ENSP00000393139:p.Ala563Asp					CDC7_ENST00000234626.6_Missense_Mutation_p.A563D|CDC7_ENST00000430031.2_Missense_Mutation_p.A535D	p.A563D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	12	1947	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	563			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.1688C>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332964	0.95758	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.08546	3.08;3.08;3.08	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34337	0.0894	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.35748	-0.9776	10	0.87932	D	0	-11.2128	20.5373	0.99239	0.0:1.0:0.0:0.0	.	535;563;563	B7Z5H7;B2R6V2;O00311	.;.;CDC7_HUMAN	D	535;563;563	ENSP00000407477:A535D;ENSP00000234626:A563D;ENSP00000393139:A563D	ENSP00000234626:A563D	A	+	2	0	CDC7	91762543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.865000	0.69583	2.857000	0.98124	0.650000	0.86243	GCT		0.328	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		14	263	1	0	1.5842e-08	0.105934	1.83928e-08	14	263				
NR5A2	2494	broad.mit.edu	37	1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:200089985T>C	ENST00000367362.3	+	7	1526	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P|NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	427					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCAACAACCTCATGAGTCAT	0.418																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1279-1281)cTc>cCc		nuclear receptor subfamily 5, group A, member 2							177.0	149.0	159.0					1																	200089985		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200089985T>C	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1280T>C	1.37:g.200089985T>C	ENSP00000356331:p.Leu427Pro					NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P|NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P	p.L427P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			7	1526	+	Prostate(682;0.19)		427					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.1280T>C	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608217	0.87258	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96856	-4.15;-4.15;-4.15	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.85130	0.703;0.997	D	0.99399	1.0927	9	.	.	.	.	16.3625	0.83273	0.0:0.0:0.0:1.0	.	381;427	F1D8R9;O00482	.;NR5A2_HUMAN	P	427;381;355	ENSP00000356331:L427P;ENSP00000236914:L381P;ENSP00000439116:L355P	.	L	+	2	0	NR5A2	198356608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.962000	0.87912	2.319000	0.78375	0.524000	0.50904	CTC		0.418	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			3	209	0	0	0	0.150653	0	3	209				
PSMA8	143471	broad.mit.edu	37	18	23759096	23759096	+	Splice_Site	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:23759096T>C	ENST00000308268.6	+	6	767		c.e6+2		PSMA8_ENST00000415576.2_Splice_Site|PSMA8_ENST00000343848.6_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCTTTGAAGGTAAGTCATTAA	0.313																																						ENST00000308268.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.e6+2		proteasome (prosome, macropain) subunit, alpha type, 8							45.0	51.0	49.0					18																	23759096		2203	4296	6499	SO:0001630	splice_region_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23759096T>C	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.678+2T>C	18.37:g.23759096T>C						PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site		NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		6	767	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)							B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Splice_Site	SNP	ENST00000308268.6	37		CCDS32808.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192773	0.78902	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5384	0.61659	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA8	22013094	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	7.133000	0.77259	2.081000	0.62600	0.529000	0.55759	.		0.313	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	Intron	3	172	0	0	0	0.115264	0	3	172				
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303																																						ENST00000397121.2																			1	Substitution - Missense(1)	p.M66I(1)	prostate(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(196-198)atG>atA		zinc finger protein 676							61.0	54.0	56.0					19																	22364321		1891	4156	6047	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364321C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.198G>A	19.37:g.22364321C>T	ENSP00000380310:p.Met66Ile						p.M66I	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	515	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	66					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.198G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.498	-0.102513	0.06967	.	.	ENSG00000196109	ENST00000397121	T	0.06768	3.26	0.814	0.814	0.18756	.	.	.	.	.	T	0.02848	0.0085	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43814	-0.9368	9	0.35671	T	0.21	.	4.7761	0.13180	0.0:1.0:0.0:0.0	.	66	Q8N7Q3	ZN676_HUMAN	I	66	ENSP00000380310:M66I	ENSP00000380310:M66I	M	-	3	0	ZNF676	22156161	0.000000	0.05858	0.034000	0.17996	0.034000	0.12701	-1.290000	0.02777	0.183000	0.20059	0.186000	0.17326	ATG		0.303	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		5	148	0	0	0	0.014758	0	5	148				
GOLGA2	2801	broad.mit.edu	37	9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:131023799T>A	ENST00000421699.2	-	15	1197	c.1185A>T	c.(1183-1185)aaA>aaT	p.K395N	GOLGA2_ENST00000609374.1_Missense_Mutation_p.K383N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	395					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.K383N(1)|p.K395N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCCGCATATTTATCTCTCT	0.517																																						ENST00000421699.2																			2	Substitution - Missense(2)	p.K383N(1)|p.K395N(1)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1183-1185)aaA>aaT		golgin A2							130.0	133.0	132.0					9																	131023799		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131023799T>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1185A>T	9.37:g.131023799T>A	ENSP00000416097:p.Lys395Asn						p.K395N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			15	1197	-			395					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1185A>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	t	20.5	4.006911	0.74932	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.24350	1.86;1.86	5.3	-7.12	0.01537	.	0.758213	0.13290	N	0.399059	T	0.07007	0.0178	N	0.03608	-0.345	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.24440	-1.0160	10	0.19590	T	0.45	.	4.9217	0.13872	0.1845:0.2505:0.4453:0.1197	.	395	Q08379	GOGA2_HUMAN	N	395;422	ENSP00000416097:K395N;ENSP00000409271:K422N	ENSP00000416097:K395N	K	-	3	2	GOLGA2	130063620	0.398000	0.25279	0.000000	0.03702	0.760000	0.43138	-0.199000	0.09491	-1.764000	0.01305	0.254000	0.18369	AAA		0.517	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		9	217	0	0	0	0.058154	0	9	217				
ZC3H4	23211	broad.mit.edu	37	19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	rs653615		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:47589711C>T	ENST00000253048.5	-	6	837	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	267	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G267D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTGCCCCTGCCTCGGCTGCC	0.667																																						ENST00000253048.5																			1	Substitution - Missense(1)	p.G267D(1)	prostate(1)	NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(799-801)gGc>gAc		zinc finger CCCH-type containing 4							61.0	72.0	69.0					19																	47589711		2000	4154	6154	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47589711C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.800G>A	19.37:g.47589711C>T	ENSP00000253048:p.Gly267Asp					ZC3H4_ENST00000594019.1_Intron	p.G267D	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	6	837	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	267			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.800G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820265	0.71028	.	.	ENSG00000130749	ENST00000253048	T	0.28069	1.63	5.12	5.12	0.69794	.	0.666466	0.13658	N	0.371780	T	0.49830	0.1580	L	0.44542	1.39	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.41342	-0.9514	10	0.52906	T	0.07	.	17.7009	0.88294	0.0:1.0:0.0:0.0	rs653615	267	Q9UPT8	ZC3H4_HUMAN	D	267	ENSP00000253048:G267D	ENSP00000253048:G267D	G	-	2	0	ZC3H4	52281551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.152000	0.64882	2.540000	0.85666	0.655000	0.94253	GGC		0.667	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			4	81	0	0	0	0.150653	0	4	81				
GYPC	2995	broad.mit.edu	37	2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:127453705A>T	ENST00000259254.4	+	4	705	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	125						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E125V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGCAGAAAGGAGTACTTTATT	0.547																																					Melanoma(110;806 1600 6704 9981 33404)	ENST00000259254.4																			1	Substitution - Missense(1)	p.E125V(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13						c.(373-375)gAg>gTg		glycophorin C (Gerbich blood group)							94.0	79.0	84.0					2																	127453705		2203	4300	6503	SO:0001583	missense	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127453705A>T		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.374A>T	2.37:g.127453705A>T	ENSP00000259254:p.Glu125Val					GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V	p.E125V	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	4	705	+	Colorectal(110;0.0533)		125					B2R522|Q53SV9|Q92642	Missense_Mutation	SNP	ENST00000259254.4	37	c.374A>T	CCDS2136.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394111	0.83011	.	.	ENSG00000136732	ENST00000259254;ENST00000356887;ENST00000409836	T;T;T	0.57595	0.59;0.39;1.01	5.22	5.22	0.72569	.	.	.	.	.	T	0.77658	0.4163	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83239	-0.0059	9	0.87932	D	0	-3.1922	13.9264	0.63966	1.0:0.0:0.0:0.0	.	104;125	P04921-2;P04921	.;GLPC_HUMAN	V	125;104;106	ENSP00000259254:E125V;ENSP00000349354:E104V;ENSP00000386904:E106V	ENSP00000259254:E125V	E	+	2	0	GYPC	127170175	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	8.692000	0.91284	1.971000	0.57363	0.459000	0.35465	GAG		0.547	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101		14	76	0	0	0	0.105934	0	14	76				
WDR6	11180	broad.mit.edu	37	3	49051423	49051423	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:49051423C>A	ENST00000608424.1	+	2	2495	c.2456C>A	c.(2455-2457)aCt>aAt	p.T819N	WDR6_ENST00000415265.2_Missense_Mutation_p.T267N|WDR6_ENST00000395474.3_Missense_Mutation_p.T849N|WDR6_ENST00000448293.1_Missense_Mutation_p.T768N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	819					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.T819N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ATCATGGTTACTCCGGACCCC	0.647											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			1	Substitution - Missense(1)	p.T819N(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2545-2547)aCt>aAt		WD repeat domain 6							51.0	48.0	49.0					3																	49051423		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051423C>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2456C>A	3.37:g.49051423C>A	ENSP00000477389:p.Thr819Asn		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000448293.1_Missense_Mutation_p.T768N|WDR6_ENST00000415265.2_Missense_Mutation_p.T267N	p.T849N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2826	+			819					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2546C>A		.	.	.	.	.	.	.	.	.	.	C	6.595	0.478196	0.12521	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.59906	0.23;0.24	5.39	2.38	0.29361	WD40 repeat-like-containing domain (1);	0.509267	0.23664	N	0.045796	T	0.29491	0.0735	N	0.12182	0.205	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.10042	-1.0647	10	0.11485	T	0.65	-13.5848	4.5365	0.12037	0.23:0.4615:0.2353:0.0732	.	267;819;768	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	849;267;768	ENSP00000378857:T849N;ENSP00000413432:T768N	ENSP00000378857:T849N	T	+	2	0	WDR6	49026427	0.000000	0.05858	0.971000	0.41717	0.713000	0.41058	0.511000	0.22739	1.371000	0.46172	0.561000	0.74099	ACT		0.647	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			5	107	1	0	0.0215528	0.021553	0.0230682	5	107				
PDILT	204474	broad.mit.edu	37	16	20370791	20370791	+	Silent	SNP	C	C	T	rs376390632		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:20370791C>T	ENST00000302451.4	-	12	1853	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	535					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.S535S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCAGGCGACTGCTGTT	0.502													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17697	0.0		0.0	False		,,,				2504	0.0					ENST00000302451.4																			1	Substitution - coding silent(1)	p.S535S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1603-1605)tcG>tcA		protein disulfide isomerase-like, testis expressed							233.0	201.0	212.0					16																	20370791		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370791C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1605G>A	16.37:g.20370791C>T							p.S535S	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1853	-			535					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1605G>A	CCDS10584.1																																																																																				0.502	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		12	468	0	0	0	0.062417	0	12	468				
OR5T1	390155	broad.mit.edu	37	11	56043918	56043918	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:56043918C>T	ENST00000313033.2	+	1	890	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L268L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGACAATCCTCTTCATGTATG	0.428																																						ENST00000313033.2																			1	Substitution - coding silent(1)	p.L268L(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(802-804)ctC>ctT		olfactory receptor, family 5, subfamily T, member 1							235.0	203.0	213.0					11																	56043918		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043918C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.804C>T	11.37:g.56043918C>T							p.L268L	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	890	+	Esophageal squamous(21;0.00448)		268					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.804C>T	CCDS31525.1																																																																																				0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		165	329	0	0	0	0.139131	0	165	329				
GPI	2821	broad.mit.edu	37	19	34887247	34887247	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:34887247A>G	ENST00000356487.5	+	13	1345	c.1104A>G	c.(1102-1104)ggA>ggG	p.G368G	GPI_ENST00000415930.3_Silent_p.G379G|GPI_ENST00000586425.1_Silent_p.G368G	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	368					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAATCTGGAACCCGTGTGG	0.502																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1135-1137)ggA>ggG		glucose-6-phosphate isomerase							64.0	68.0	67.0					19																	34887247		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887247A>G	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1104A>G	19.37:g.34887247A>G						GPI_ENST00000586425.1_Silent_p.G368G|GPI_ENST00000356487.5_Silent_p.G368G	p.G379G	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			13	1307	+	Esophageal squamous(110;0.162)		368					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.1137A>G	CCDS12437.1																																																																																				0.502	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			4	209	0	0	0	0.014758	0	4	209				
SLX4	84464	broad.mit.edu	37	16	3640681	3640681	+	Silent	SNP	G	G	A	rs148111699		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3640681G>A	ENST00000294008.3	-	12	3598	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	986	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.L986L(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGAGAAGAGCTGTTCGT	0.557								Direct reversal of damage																														ENST00000294008.3																			1	Substitution - coding silent(1)	p.L986L(1)	prostate(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2956-2958)ctC>ctT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							82.0	82.0	82.0					16																	3640681		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640681G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2958C>T	16.37:g.3640681G>A							p.L986L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3598	-			986			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.2958C>T	CCDS10506.2																																																																																				0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		7	180	0	0	0	0.058154	0	7	180				
WASH3P	374666	broad.mit.edu	37	15	102516473	102516473	+	RNA	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:102516473G>A	ENST00000557932.1	+	0	1421				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516473G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516473G>A														0	1421	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	31	0	0	0	0.021553	0	4	31				
NBPF3	84224	broad.mit.edu	37	1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:21799965C>A	ENST00000318249.5	+	7	1177	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	NBPF3_ENST00000318220.6_Missense_Mutation_p.S220Y|NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	276	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S276Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTGTGAGTCCAACCAGCCT	0.493																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.S276Y(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(658-660)tCc>tAc		neuroblastoma breakpoint family, member 3							237.0	217.0	224.0					1																	21799965		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21799965C>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.827C>A	1.37:g.21799965C>A	ENSP00000316782:p.Ser276Tyr					NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y	p.S220Y			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1707	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	276					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.659C>A	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	9.778	1.174495	0.21704	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	0.9	-0.243	0.13035	DUF1220 (2);	.	.	.	.	T	0.37812	0.1017	M	0.84326	2.69	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.992;0.954;0.999	T	0.12372	-1.0550	9	0.62326	D	0.03	.	4.8618	0.13588	0.0:0.5191:0.4809:0.0	.	206;276;276	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	Y	206;220;276;220;276;220	ENSP00000415711:S206Y;ENSP00000316739:S220Y;ENSP00000316782:S276Y;ENSP00000340336:S276Y;ENSP00000391865:S220Y	ENSP00000316739:S220Y	S	+	2	0	NBPF3	21672552	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.581000	0.05820	-0.080000	0.12685	0.184000	0.17185	TCC		0.493	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	436	1	0	0.00198382	0.029380	0.00215701	7	436				
CFAP58	159686	broad.mit.edu	37	10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:106125599A>C	ENST00000369704.3	+	5	759	c.625A>C	c.(625-627)Aac>Cac	p.N209H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		209						extracellular space (GO:0005615)		p.N209H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAACGTCAGAACGAAGCTTC	0.512																																						ENST00000369704.3																			1	Substitution - Missense(1)	p.N209H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(625-627)Aac>Cac		coiled-coil domain containing 147							72.0	74.0	73.0					10																	106125599		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106125599A>C																												ENST00000369704.3:c.625A>C	10.37:g.106125599A>C	ENSP00000358718:p.Asn209His					CCDC147_ENST00000312902.5_5'UTR	p.N209H	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	5	759	+		Colorectal(252;0.103)|Breast(234;0.122)	209					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.625A>C	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.054146	0.55218	.	.	ENSG00000120051	ENST00000369704	T	0.33865	1.39	5.79	5.79	0.91817	.	0.121462	0.85682	D	0.000000	T	0.44787	0.1310	M	0.80616	2.505	0.80722	D	1	B	0.32188	0.359	B	0.32289	0.143	T	0.46062	-0.9218	10	0.51188	T	0.08	-15.2647	16.1193	0.81336	1.0:0.0:0.0:0.0	.	209	Q5T655	CC147_HUMAN	H	209	ENSP00000358718:N209H	ENSP00000358718:N209H	N	+	1	0	CCDC147	106115589	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.155000	0.77445	2.201000	0.70794	0.533000	0.62120	AAC		0.512	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			4	86	0	0	0	0.150653	0	4	86				
LRRK1	79705	broad.mit.edu	37	15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:101593153A>G	ENST00000388948.3	+	25	4075	c.3716A>G	c.(3715-3717)gAg>gGg	p.E1239G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.E1236G	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.E1239G(1)|p.E1251G(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAAGCTGGAGCACAGCGAG	0.692																																						ENST00000284395.5																			2	Substitution - Missense(2)	p.E1239G(1)|p.E1251G(1)	prostate(2)	breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3706-3708)gAg>gGg		leucine-rich repeat kinase 1							26.0	36.0	33.0					15																	101593153		2183	4284	6467	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101593153A>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3716A>G	15.37:g.101593153A>G	ENSP00000373600:p.Glu1239Gly					RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G	p.E1236G			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		26	4107	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1239						Missense_Mutation	SNP	ENST00000388948.3	37	c.3707A>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661640	0.67700	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.93247	-3.19;-3.19	5.08	3.93	0.45458	Protein kinase-like domain (1);	0.289069	0.37304	N	0.002144	D	0.88760	0.6524	L	0.29908	0.895	0.45777	D	0.998665	B	0.30851	0.297	B	0.33890	0.172	D	0.86107	0.1560	10	0.72032	D	0.01	.	10.9923	0.47557	0.8496:0.0:0.0:0.1504	.	1239	Q38SD2	LRRK1_HUMAN	G	1239;1236	ENSP00000373600:E1239G;ENSP00000284395:E1236G	ENSP00000284395:E1236G	E	+	2	0	LRRK1	99410676	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.201000	0.77847	0.837000	0.34925	0.524000	0.50904	GAG		0.692	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		3	60	0	0	0	0.115264	0	3	60				
F11	2160	broad.mit.edu	37	4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	rs369435407		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:187206814C>T	ENST00000403665.2	+	12	1679	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	F11_ENST00000264692.4_Missense_Mutation_p.R391C|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358																																						ENST00000264692.4																			1	Substitution - Missense(1)	p.R443C(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32	GRCh37	CM062624	F11	M		c.(1171-1173)Cgt>Tgt		coagulation factor XI	Coagulation Factor IX(DB00100)	C	CYS/ARG	0,4406		0,0,2203	121.0	122.0	122.0		1327	4.9	1.0	4		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	F11	NM_000128.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	443/626	187206814	1,13005	2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187206814C>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1327C>T	4.37:g.187206814C>T	ENSP00000384957:p.Arg443Cys					F11_ENST00000403665.2_Missense_Mutation_p.R443C	p.R391C			P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	12	1504	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	443			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1171C>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655726	0.67586	0.0	1.16E-4	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89617	-2.54;-2.54	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.278238	0.31673	N	0.007243	D	0.93861	0.8036	M	0.81341	2.54	0.48395	D	0.999649	D	0.89917	1.0	D	0.76071	0.987	D	0.93783	0.7085	9	.	.	.	.	13.1878	0.59691	0.1594:0.8406:0.0:0.0	.	443	P03951	FA11_HUMAN	C	443;391	ENSP00000384957:R443C;ENSP00000264692:R391C	.	R	+	1	0	F11	187443808	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.339000	0.52135	2.504000	0.84457	0.650000	0.86243	CGT		0.358	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			4	215	0	0	0	0.014758	0	4	215				
MPDZ	8777	broad.mit.edu	37	9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:13224386T>G	ENST00000319217.7	-	4	627	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	127					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.K127T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCATATTTTTGATAAGCTG	0.338																																						ENST00000319217.7																			2	Substitution - Missense(2)	p.K127T(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(379-381)aAa>aCa		multiple PDZ domain protein							109.0	104.0	105.0					9																	13224386		1823	4080	5903	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224386T>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.380A>C	9.37:g.13224386T>G	ENSP00000320006:p.Lys127Thr					MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T	p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	627	-			127					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.380A>C		.	.	.	.	.	.	.	.	.	.	T	17.40	3.380536	0.61845	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11495	2.83;2.78;2.78;2.77;2.81;2.83;2.83	5.72	0.495	0.16890	.	0.128902	0.35235	N	0.003348	T	0.08537	0.0212	N	0.24115	0.695	0.80722	D	1	P;P;P	0.49635	0.926;0.909;0.909	P;P;P	0.49528	0.495;0.614;0.614	T	0.36962	-0.9726	10	0.31617	T	0.26	.	5.5697	0.17190	0.0:0.224:0.2515:0.5246	.	127;127;127	B7ZMI4;O75970-3;O75970-2	.;.;.	T	127	ENSP00000320006:K127T;ENSP00000439807:K127T;ENSP00000370410:K127T;ENSP00000444151:K127T;ENSP00000415208:K127T;ENSP00000370403:K127T;ENSP00000446358:K127T	ENSP00000320006:K127T	K	-	2	0	MPDZ	13214386	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.311000	0.33562	0.083000	0.17047	0.533000	0.62120	AAA		0.338	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		53	207	0	0	0	0.139131	0	53	207				
CXADRP3	440224	broad.mit.edu	37	18	14479261	14479261	+	lincRNA	SNP	C	C	T	rs375044215	byFrequency	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:14479261C>T	ENST00000581457.1	-	0	647					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		GCAGCAGGAGCGCCATGGTGG	0.597													C|||	8	0.00159744	0.0	0.0	5008	,	,		13275	0.0069		0.001	False		,,,				2504	0.0					ENST00000581457.1																			0																																																			0							g.chr18:14479261C>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479261C>T								NR_024076.1						0	647	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.597	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		4	17	0	0	0	0.014758	0	4	17				
TAF1L	138474	broad.mit.edu	37	9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:32632973C>T	ENST00000242310.4	-	1	2694	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	869					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.A869T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.A869T(1)	prostate(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2605-2607)Gct>Act		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							137.0	139.0	138.0					9																	32632973		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632973C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2605G>A	9.37:g.32632973C>T	ENSP00000418379:p.Ala869Thr						p.A869T	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2694	-			869					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2605G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987904	0.53934	.	.	ENSG00000122728	ENST00000242310	T	0.15487	2.42	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.82630	2.6	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	T	0.22521	-1.0214	10	0.72032	D	0.01	.	7.8312	0.29344	0.0:1.0:0.0:0.0	.	869	Q8IZX4	TAF1L_HUMAN	T	869	ENSP00000418379:A869T	ENSP00000418379:A869T	A	-	1	0	TAF1L	32622973	1.000000	0.71417	0.991000	0.47740	0.694000	0.40290	4.928000	0.63447	0.632000	0.30432	0.195000	0.17529	GCT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			11	307	0	0	0	0.080935	0	11	307				
HOXD3	3232	broad.mit.edu	37	2	177034058	177034058	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:177034058C>T	ENST00000468418.3	+	3	2306	c.216C>T	c.(214-216)agC>agT	p.S72S	HOXD3_ENST00000249440.3_Silent_p.S72S|HOXD3_ENST00000410016.1_Silent_p.S72S			P31249	HXD3_HUMAN	homeobox D3	72					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S72S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCATCCAGAGCTCTGCCCCTC	0.652																																						ENST00000468418.3																			1	Substitution - coding silent(1)	p.S72S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(214-216)agC>agT		homeobox D3							55.0	56.0	56.0					2																	177034058		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177034058C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.216C>T	2.37:g.177034058C>T						HOXD3_ENST00000410016.1_Silent_p.S72S|HOXD3_ENST00000249440.3_Silent_p.S72S	p.S72S			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2306	+			72					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.216C>T	CCDS2270.1																																																																																				0.652	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			36	101	0	0	0	0.086207	0	36	101				
TNS1	7145	broad.mit.edu	37	2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:218750505T>C	ENST00000171887.4	-	13	1155	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A|TNS1_ENST00000310858.6_Missense_Mutation_p.T266A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	235	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.T235A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCTCGATGGTGATGCAGACG	0.532																																						ENST00000171887.4																			1	Substitution - Missense(1)	p.T235A(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(703-705)Acc>Gcc		tensin 1							145.0	126.0	132.0					2																	218750505		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218750505T>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.703A>G	2.37:g.218750505T>C	ENSP00000171887:p.Thr235Ala					TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A	p.T235A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	13	1155	-		Renal(207;0.0483)|Lung NSC(271;0.213)	235			C2 tensin-type.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.703A>G	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.42|13.42	2.233051|2.233051	0.39498|0.39498	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000453356|ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	.|D;D;D;D;D;D	.|0.84660	.|-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82706|0.82706	0.5095|0.5095	N|N	0.04090|0.04090	-0.28|-0.28	0.80722|0.80722	D|D	1|1	.|D;B;B;D;D;P	.|0.89917	.|1.0;0.115;0.016;0.999;0.997;0.775	.|D;B;B;D;D;P	.|0.87578	.|0.998;0.246;0.055;0.998;0.992;0.526	D|D	0.85025|0.85025	0.0914|0.0914	5|10	.|0.39692	.|T	.|0.17	.|.	14.118|14.118	0.65167|0.65167	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|235;289;266;235;235;235	.|B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.|.;.;.;TENS1_HUMAN;.;.	R|A	10|235;235;235;360;303;266	.|ENSP00000171887:T235A;ENSP00000408724:T235A;ENSP00000406016:T235A;ENSP00000405460:T360A;ENSP00000400383:T303A;ENSP00000308321:T266A	.|ENSP00000171887:T235A	H|T	-|-	2|1	0|0	TNS1|TNS1	218458750|218458750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	3.283000|3.283000	0.51701|0.51701	1.992000|1.992000	0.58205|0.58205	0.379000|0.379000	0.24179|0.24179	CAC|ACC		0.532	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		6	145	0	0	0	0.029380	0	6	145				
VPS13A	23230	broad.mit.edu	37	9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:79938099A>G	ENST00000360280.3	+	45	6207	c.5947A>G	c.(5947-5949)Aca>Gca	p.T1983A	VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1983					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.T1983A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAATTGATACAGTAGAAGG	0.403																																						ENST00000360280.3																			2	Substitution - Missense(2)	p.T1983A(2)	breast(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(5947-5949)Aca>Gca		vacuolar protein sorting 13 homolog A (S. cerevisiae)							116.0	106.0	109.0					9																	79938099		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79938099A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5947A>G	9.37:g.79938099A>G	ENSP00000353422:p.Thr1983Ala					VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A|VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A	p.T1983A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			45	6207	+			1983					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5947A>G	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.487|2.487	-0.318238|-0.318238	0.05386|0.05386	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.46063	.|1.05;0.88;0.96;1.05	4.76|4.76	-0.256|-0.256	0.12984|0.12984	.|.	.|0.477149	.|0.21885	.|N	.|0.067675	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.13168|0.13168	0.305|0.305	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.09022	.|0.001;0.0;0.001;0.002;0.001	.|B;B;B;B;B	.|0.10450	.|0.005;0.001;0.002;0.002;0.002	T|T	0.05257|0.05257	-1.0896|-1.0896	5|10	.|0.21014	.|T	.|0.42	.|.	4.9182|4.9182	0.13856|0.13856	0.6481:0.0:0.1827:0.1692|0.6481:0.0:0.1827:0.1692	.|.	.|235;1944;1983;1983;1983	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	M|A	235|1983;1944;1983;1983	.|ENSP00000365821:T1983A;ENSP00000365823:T1944A;ENSP00000353422:T1983A;ENSP00000349985:T1983A	.|ENSP00000349985:T1983A	I|T	+|+	3|1	3|0	VPS13A|VPS13A	79127919|79127919	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.983000|0.983000	0.72400|0.72400	0.824000|0.824000	0.27379|0.27379	0.099000|0.099000	0.17552|0.17552	0.477000|0.477000	0.44152|0.44152	ATA|ACA		0.403	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		3	186	0	0	0	0.115264	0	3	186				
IRF6	3664	broad.mit.edu	37	1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:209963071A>C	ENST00000367021.3	-	8	1292	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	RP3-434O14.8_ENST00000430751.1_RNA|IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS1). {ECO:0000269|PubMed:12219090}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C374G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCCAAAGCATAAGTAGATC	0.443										HNSCC(57;0.16)																												ENST00000367021.3																			1	Substitution - Missense(1)	p.C374G(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28	GRCh37	CM090292	IRF6	M		c.(1120-1122)Tgc>Ggc		interferon regulatory factor 6							157.0	133.0	141.0					1																	209963071		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209963071A>C	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.1120T>G	1.37:g.209963071A>C	ENSP00000355988:p.Cys374Gly	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	p.C374G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	8	1292	-			374		C -> W (in VWS).			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.1120T>G	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489036	0.84962	.	.	ENSG00000117595	ENST00000367021;ENST00000542854	D;D	0.95205	-3.64;-3.64	6.06	6.06	0.98353	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	M	0.64170	1.965	0.80722	D	1	P	0.36125	0.538	B	0.43889	0.435	D	0.93403	0.6762	9	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	374	O14896	IRF6_HUMAN	G	374;279	ENSP00000355988:C374G;ENSP00000440532:C279G	.	C	-	1	0	IRF6	208029694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.644000	0.91044	2.315000	0.78130	0.533000	0.62120	TGC		0.443	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		3	156	0	0	0	0.115264	0	3	156				
PLCD4	84812	broad.mit.edu	37	2	219498481	219498481	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:219498481G>T	ENST00000450993.2	+	11	1942	c.1603G>T	c.(1603-1605)Gct>Tct	p.A535S	PLCD4_ENST00000417849.1_Missense_Mutation_p.A535S|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.A567S	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	535	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A535S(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCAAGGAGGCTGGTCAGGA	0.507																																						ENST00000450993.2																			2	Substitution - Missense(2)	p.A535S(2)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1603-1605)Gct>Tct		phospholipase C, delta 4							47.0	44.0	45.0					2																	219498481		1904	4124	6028	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219498481G>T	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1603G>T	2.37:g.219498481G>T	ENSP00000388631:p.Ala535Ser					PLCD4_ENST00000417849.1_Missense_Mutation_p.A535S|PLCD4_ENST00000432688.1_Missense_Mutation_p.A567S	p.A535S	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	11	1942	+		Renal(207;0.0915)	535			PI-PLC Y-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1603G>T	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	5.732	0.319561	0.10845	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.65732	-0.17;-0.17;-0.17	5.4	4.53	0.55603	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.166220	0.52532	D	0.000064	T	0.34803	0.0910	N	0.04320	-0.23	0.38099	D	0.937214	B	0.24823	0.112	B	0.28305	0.088	T	0.28038	-1.0056	10	0.07030	T	0.85	.	9.6157	0.39690	0.075:0.1416:0.7834:0.0	.	535	Q9BRC7	PLCD4_HUMAN	S	535;535;535;567	ENSP00000388631:A535S;ENSP00000396942:A535S;ENSP00000396185:A567S	ENSP00000251959:A535S	A	+	1	0	PLCD4	219206725	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.932000	0.40143	1.517000	0.48917	0.563000	0.77884	GCT		0.507	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			5	60	1	0	1.23904e-05	0.014758	1.40288e-05	5	60				
GZMH	2999	broad.mit.edu	37	14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	rs144759599		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:25076555T>G	ENST00000216338.4	-	4	441	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)	p.K133Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTGGGCCTTGCTGCTAGGT	0.572																																						ENST00000216338.4																			1	Substitution - Missense(1)	p.K133Q(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(397-399)Aag>Cag		granzyme H (cathepsin G-like 2, protein h-CCPX)							60.0	57.0	58.0					14																	25076555		2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25076555T>G	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.397A>C	14.37:g.25076555T>G	ENSP00000216338:p.Lys133Gln					GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA	p.K133Q	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	4	441	-			133			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.397A>C	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	t	1.568	-0.534802	0.04082	.	.	ENSG00000100450	ENST00000216338	D	0.88818	-2.43	4.74	-9.47	0.00594	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.69895	0.3162	N	0.17594	0.5	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.56547	-0.7961	9	0.10902	T	0.67	.	2.4012	0.04401	0.2559:0.2831:0.3442:0.1169	.	133	P20718	GRAH_HUMAN	Q	133	ENSP00000216338:K133Q	ENSP00000216338:K133Q	K	-	1	0	GZMH	24146395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.508000	0.02266	-3.697000	0.00119	0.533000	0.62120	AAG		0.572	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		7	116	0	0	0	0.069234	0	7	116				
KCNG1	3755	broad.mit.edu	37	20	49620929	49620929	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:49620929C>T	ENST00000371571.4	-	3	1474	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	397					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.V397I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCTCGATGACGTAGAGCAGG	0.662																																						ENST00000371571.4																			1	Substitution - Missense(1)	p.V397I(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1189-1191)Gtc>Atc		potassium voltage-gated channel, subfamily G, member 1							39.0	40.0	40.0					20																	49620929		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620929C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1189G>A	20.37:g.49620929C>T	ENSP00000360626:p.Val397Ile					RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	p.V397I	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1474	-			397					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1189G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751258	0.31046	.	.	ENSG00000026559	ENST00000371571	T	0.41758	0.99	5.49	5.49	0.81192	Ion transport (1);	0.066432	0.64402	D	0.000008	T	0.36799	0.0980	N	0.25890	0.77	0.80722	D	1	P	0.46656	0.882	P	0.46659	0.523	T	0.05683	-1.0870	9	.	.	.	.	14.2294	0.65882	0.1494:0.8506:0.0:0.0	.	397	Q9UIX4	KCNG1_HUMAN	I	397	ENSP00000360626:V397I	.	V	-	1	0	KCNG1	49054336	0.989000	0.36119	0.996000	0.52242	0.474000	0.32979	2.394000	0.44450	2.578000	0.87016	0.462000	0.41574	GTC		0.662	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		4	72	0	0	0	0.150653	0	4	72				
KLHL2	11275	broad.mit.edu	37	4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:166218818A>C	ENST00000226725.6	+	7	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	238					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.M238L(2)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCAAGAGTTTATGGCCCGACT	0.393																																						ENST00000226725.6																			2	Substitution - Missense(2)	p.M238L(2)	prostate(2)	endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(712-714)Atg>Ctg		kelch-like family member 2							155.0	127.0	137.0					4																	166218818		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166218818A>C	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.712A>C	4.37:g.166218818A>C	ENSP00000226725:p.Met238Leu					KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L	p.M238L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	7	971	+	all_hematologic(180;0.221)		238					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.712A>C	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	A	4.803	0.149254	0.09185	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.98	5.98	0.97165	BTB/Kelch-associated (2);	0.044561	0.85682	D	0.000000	T	0.29652	0.0740	N	0.01464	-0.85	0.47737	D	0.9995	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38286	-0.9668	10	0.02654	T	1	.	11.5024	0.50446	0.9306:0.0:0.0694:0.0	.	242;238	B4DFH7;O95198	.;KLHL2_HUMAN	L	238;242;150;141;72	ENSP00000226725:M238L;ENSP00000424198:M242L;ENSP00000437526:M150L;ENSP00000408974:M141L;ENSP00000424108:M72L	ENSP00000226725:M238L	M	+	1	0	KLHL2	166438268	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.658000	0.46733	2.296000	0.77279	0.482000	0.46254	ATG		0.393	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			4	174	0	0	0	0.014758	0	4	174				
COL15A1	1306	broad.mit.edu	37	9	101748355	101748355	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:101748355C>T	ENST00000375001.3	+	3	1032	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	203	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.F203F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGAATCTTCATGGGCAATG	0.557																																						ENST00000375001.3																			1	Substitution - coding silent(1)	p.F203F(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(607-609)ttC>ttT		collagen, type XV, alpha 1							33.0	35.0	34.0					9																	101748355		2203	4298	6501	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748355C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.609C>T	9.37:g.101748355C>T							p.F203F	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	1032	+		Acute lymphoblastic leukemia(62;0.0562)	203			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.609C>T	CCDS35081.1																																																																																				0.557	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	138	0	0	0	0.014758	0	4	138				
KCNN2	3781	broad.mit.edu	37	5	113740445	113740445	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:113740445C>G	ENST00000512097.3	+	4	1911	c.893C>G	c.(892-894)aCa>aGa	p.T298R	KCNN2_ENST00000264773.3_Missense_Mutation_p.T298R|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	298					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.T298R(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AACTTCAATACACGTTTTGTT	0.383																																						ENST00000512097.3																			2	Substitution - Missense(2)	p.T298R(2)	prostate(2)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(892-894)aCa>aGa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							131.0	129.0	130.0					5																	113740445		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740445C>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.893C>G	5.37:g.113740445C>G	ENSP00000427120:p.Thr298Arg					KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.T298R	p.T298R			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	4	1911	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	298					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.893C>G	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296668	0.81025	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98747	-5.11;-5.11	5.42	5.42	0.78866	.	0.047810	0.85682	D	0.000000	D	0.99130	0.9700	M	0.85710	2.77	0.80722	D	1	D	0.58268	0.982	D	0.64321	0.924	D	0.99675	1.0997	10	0.72032	D	0.01	-5.339	18.8255	0.92117	0.0:1.0:0.0:0.0	.	298	Q9H2S1	KCNN2_HUMAN	R	298	ENSP00000427120:T298R;ENSP00000264773:T298R	ENSP00000264773:T298R	T	+	2	0	KCNN2	113768344	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.723000	0.84788	2.545000	0.85829	0.491000	0.48974	ACA		0.383	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		7	376	0	0	0	0.029380	0	7	376				
SMG1	23049	broad.mit.edu	37	16	18866183	18866183	+	Silent	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:18866183T>C	ENST00000446231.2	-	30	4690	c.4278A>G	c.(4276-4278)ctA>ctG	p.L1426L	SMG1_ENST00000389467.3_Silent_p.L1426L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1426	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCTGCTGTTAGACCTAATT	0.438																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(4276-4278)ctA>ctG		SMG1 phosphatidylinositol 3-kinase-related kinase							142.0	133.0	136.0					16																	18866183		1908	4130	6038	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18866183T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4278A>G	16.37:g.18866183T>C						SMG1_ENST00000389467.3_Silent_p.L1426L	p.L1426L			Q96Q15	SMG1_HUMAN			30	4690	-			1426			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.4278A>G	CCDS45430.1																																																																																				0.438	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	257	0	0	0	0.021553	0	6	257				
CTCFL	140690	broad.mit.edu	37	20	56099193	56099193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:56099193C>T	ENST00000608263.1	-	1	730	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000481655.2_Silent_p.P23P|CTCFL_ENST00000608425.1_Silent_p.P23P|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000608440.1_Silent_p.P23P|CTCFL_ENST00000429804.3_Silent_p.P23P|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000423479.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Silent_p.P23P	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.P23P(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCCTTTTTCCGGCATCAACT	0.507																																						ENST00000426658.2																			1	Substitution - coding silent(1)	p.P23P(1)	prostate(1)	NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(67-69)ccG>ccA		CCCTC-binding factor (zinc finger protein)-like							221.0	250.0	240.0					20																	56099193		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099193C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.69G>A	20.37:g.56099193C>T						CTCFL_ENST00000433949.2_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000422109.2_Silent_p.P23P|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Silent_p.P23P|CTCFL_ENST00000429804.2_Silent_p.P23P|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Silent_p.P23P|CTCFL_ENST00000371196.2_Silent_p.P23P	p.P23P			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	730	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		23					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.69G>A	CCDS13459.1																																																																																				0.507	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		241	498	0	0	0	0.139131	0	241	498				
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:79051886G>A	ENST00000388820.4	-	24	5148	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1646	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C1646C(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701																																						ENST00000388820.4																			4	Substitution - coding silent(4)	p.C1646C(4)	prostate(2)|lung(1)|kidney(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4936-4938)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							10.0	11.0	11.0					15																	79051886		2150	4223	6373	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051886G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4938C>T	15.37:g.79051886G>A							p.C1646C	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			24	5148	-			1646			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4938C>T	CCDS32303.1																																																																																				0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		5	7	0	0	0	0.014758	0	5	7				
MSMP	692094	broad.mit.edu	37	9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:35753744T>G	ENST00000436428.2	-	2	291	c.152A>C	c.(151-153)aAa>aCa	p.K51T	RP11-112J3.15_ENST00000425499.2_RNA|RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	51						cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.K51T(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGTAAAATATTTCCCCTCATA	0.537																																						ENST00000436428.2																			1	Substitution - Missense(1)	p.K51T(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						c.(151-153)aAa>aCa		microseminoprotein, prostate associated							37.0	38.0	38.0					9																	35753744		2015	4182	6197	SO:0001583	missense	692094					extracellular region		g.chr9:35753744T>G	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.152A>C	9.37:g.35753744T>G	ENSP00000419194:p.Lys51Thr					MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	p.K51T	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN			2	291	-			51						Missense_Mutation	SNP	ENST00000436428.2	37	c.152A>C	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966677	0.34659	.	.	ENSG00000215183	ENST00000436428	T	0.07800	3.16	5.5	5.5	0.81552	.	0.183426	0.21116	U	0.079892	T	0.16128	0.0388	N	0.19112	0.55	0.39544	D	0.968866	D	0.89917	1.0	D	0.77557	0.99	T	0.10636	-1.0621	10	0.44086	T	0.13	-17.6375	14.1763	0.65544	0.0:0.0:0.0:1.0	.	51	Q1L6U9	MSMP_HUMAN	T	51	ENSP00000419194:K51T	ENSP00000419194:K51T	K	-	2	0	MSMP	35743744	1.000000	0.71417	0.973000	0.42090	0.950000	0.60333	2.446000	0.44908	2.082000	0.62665	0.533000	0.62120	AAA		0.537	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		9	60	0	0	0	0.047766	0	9	60				
ARHGEF10L	55160	broad.mit.edu	37	1	17958926	17958926	+	Silent	SNP	C	C	T	rs116425261		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:17958926C>T	ENST00000361221.3	+	16	1854	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000375415.1_Silent_p.L526L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	565						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L565L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCTGCTCAACGACATGC	0.602																																						ENST00000361221.3																			3	Substitution - coding silent(3)	p.L565L(3)	prostate(3)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1693-1695)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 10-like							136.0	135.0	136.0					1																	17958926		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958926C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1695C>T	1.37:g.17958926C>T						ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L	p.L565L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1854	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	565					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1695C>T	CCDS182.1																																																																																				0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		7	288	0	0	0	0.038147	0	7	288				
CCDC25	55246	broad.mit.edu	37	8	27605731	27605731	+	Silent	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr8:27605731G>C	ENST00000356537.4	-	7	507	c.414C>G	c.(412-414)gtC>gtG	p.V138V	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Silent_p.V70V|CCDC25_ENST00000539095.1_Silent_p.V70V	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	138						extracellular vesicular exosome (GO:0070062)		p.V138V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGAACCGCTCGACTTTGGTCT	0.393																																						ENST00000356537.4																			1	Substitution - coding silent(1)	p.V138V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(412-414)gtC>gtG		coiled-coil domain containing 25							124.0	120.0	121.0					8																	27605731		2203	4300	6503	SO:0001819	synonymous_variant	55246							g.chr8:27605731G>C	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.414C>G	8.37:g.27605731G>C						CCDC25_ENST00000522915.1_Silent_p.V70V|CCDC25_ENST00000539095.1_Silent_p.V70V|RP11-16P20.3_ENST00000521510.1_RNA	p.V138V	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	7	507	-		Ovarian(32;0.000953)	138					Q0P663|Q96SI2|Q9NV98	Silent	SNP	ENST00000356537.4	37	c.414C>G	CCDS6062.2																																																																																				0.393	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246		39	175	0	0	0	0.098360	0	39	175				
ERICH3	127254	broad.mit.edu	37	1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:75072359A>T	ENST00000326665.5	-	10	1633	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		472	Glu-rich.							p.V472E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTCCTCCACAGCAGTTAC	0.363																																						ENST00000326665.5																			1	Substitution - Missense(1)	p.V472E(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1414-1416)gTg>gAg		chromosome 1 open reading frame 173							189.0	188.0	188.0					1																	75072359		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75072359A>T																												ENST00000326665.5:c.1415T>A	1.37:g.75072359A>T	ENSP00000322609:p.Val472Glu					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	p.V472E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1633	-			472			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1415T>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163040	0.57476	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18016	2.68;2.24	5.15	5.15	0.70609	.	.	.	.	.	T	0.13457	0.0326	L	0.50333	1.59	0.09310	N	1	D;D	0.71674	0.98;0.998	P;P	0.60541	0.731;0.876	T	0.07770	-1.0755	9	0.02654	T	1	-0.2136	14.261	0.66085	1.0:0.0:0.0:0.0	.	275;472	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	E	472;275	ENSP00000322609:V472E;ENSP00000398581:V275E	ENSP00000322609:V472E	V	-	2	0	C1orf173	74844947	0.009000	0.17119	0.085000	0.20634	0.122000	0.20287	2.216000	0.42871	2.072000	0.62099	0.533000	0.62120	GTG		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			9	495	0	0	0	0.058154	0	9	495				
KCNH4	23415	broad.mit.edu	37	17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:40328219T>G	ENST00000264661.3	-	5	1014	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	228					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGTCCCAGATGGCCTTGGAG	0.592																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(682-684)Atc>Ctc		potassium voltage-gated channel, subfamily H (eag-related), member 4							134.0	115.0	121.0					17																	40328219		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328219T>G	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.682A>C	17.37:g.40328219T>G	ENSP00000264661:p.Ile228Leu					KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1014	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	228						Missense_Mutation	SNP	ENST00000264661.3	37	c.682A>C	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	9.939	1.216876	0.22373	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.45	-2.25	0.06888	.	0.452778	0.16327	N	0.219286	D	0.89301	0.6676	N	0.10874	0.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.80872	-0.1188	10	0.27785	T	0.31	.	7.6269	0.28218	0.0:0.4207:0.1524:0.4269	.	228	Q9UQ05	KCNH4_HUMAN	L	228	ENSP00000264661:I228L	ENSP00000264661:I228L	I	-	1	0	KCNH4	37581745	0.000000	0.05858	0.092000	0.20876	0.997000	0.91878	-0.659000	0.05323	-0.145000	0.11294	0.533000	0.62120	ATC		0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		3	230	0	0	0	0.115264	0	3	230				
OR2C1	4993	broad.mit.edu	37	16	3406160	3406160	+	Missense_Mutation	SNP	G	G	A	rs188328730		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3406160G>A	ENST00000304936.2	+	1	272	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A74T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTTGCTTTCGCTACTAGTTC	0.522													A|||	1	0.000199681	0.0	0.0014	5008	,	,		20862	0.0		0.0	False		,,,				2504	0.0					ENST00000304936.2																			1	Substitution - Missense(1)	p.A74T(1)	prostate(1)	kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(220-222)Gct>Act		olfactory receptor, family 2, subfamily C, member 1							136.0	116.0	123.0					16																	3406160		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406160G>A	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.220G>A	16.37:g.3406160G>A	ENSP00000307726:p.Ala74Thr						p.A74T	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	272	+			74					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.220G>A	CCDS10502.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	a	0.006	-2.045777	0.00398	.	.	ENSG00000168158	ENST00000304936	T	0.00433	7.43	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	N	0.000839	T	0.00073	0.0002	N	0.00076	-2.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36040	-0.9764	10	0.02654	T	1	.	8.1157	0.30942	0.9024:0.0:0.0976:0.0	.	74	O95371	OR2C1_HUMAN	T	74	ENSP00000307726:A74T	ENSP00000307726:A74T	A	+	1	0	OR2C1	3346161	0.001000	0.12720	0.610000	0.28997	0.310000	0.27922	1.008000	0.29872	0.707000	0.31934	-0.746000	0.03513	GCT		0.522	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			40	297	0	0	0	0.086207	0	40	297				
MATR3	9782	broad.mit.edu	37	5	138643657	138643657	+	Silent	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:138643657A>C	ENST00000394805.3	+	2	888	c.553A>C	c.(553-555)Aga>Cga	p.R185R	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Silent_p.R185R|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000361059.2_Silent_p.R185R|MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.R185R	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	185					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.R185R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCACTTTAGAAGAGATAG	0.443																																						ENST00000394800.2																			1	Substitution - coding silent(1)	p.R185R(1)	prostate(1)	breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(553-555)Aga>Cga		matrin 3							124.0	116.0	119.0					5																	138643657		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643657A>C	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.553A>C	5.37:g.138643657A>C						MATR3_ENST00000509990.1_Silent_p.R185R|MATR3_ENST00000394805.3_Silent_p.R185R|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000361059.2_Silent_p.R185R	p.R185R			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1102	+			185					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.553A>C	CCDS4210.1																																																																																				0.443	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		5	143	0	0	0	0.021553	0	5	143				
ATP10B	23120	broad.mit.edu	37	5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:160042863T>G	ENST00000327245.5	-	17	3481	c.2635A>C	c.(2635-2637)Aat>Cat	p.N879H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	879					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N879H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGTTGATTCTCCAGATGC	0.493																																						ENST00000327245.5																			1	Substitution - Missense(1)	p.N879H(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2635-2637)Aat>Cat		ATPase, class V, type 10B							112.0	110.0	111.0					5																	160042863		1921	4130	6051	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160042863T>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2635A>C	5.37:g.160042863T>G	ENSP00000313600:p.Asn879His					CTC-348L5.1_ENST00000523598.1_RNA	p.N879H	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	3481	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	879					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2635A>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449864	0.84101	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.70749	-0.51;-0.51	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054385	0.64402	D	0.000001	T	0.71500	0.3347	N	0.24115	0.695	0.47009	D	0.999281	D;D	0.61080	0.989;0.989	P;P	0.61070	0.883;0.883	T	0.70655	-0.4812	9	.	.	.	.	15.0376	0.71761	0.0:0.0:0.0:1.0	.	487;879	Q2YDW8;O94823	.;AT10B_HUMAN	H	879;487	ENSP00000313600:N879H;ENSP00000431081:N487H	.	N	-	1	0	ATP10B	159975441	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.118000	0.71583	2.147000	0.66899	0.533000	0.62120	AAT		0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		114	173	0	0	0	0.139131	0	114	173				
PAXIP1	22976	broad.mit.edu	37	7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:154754078G>A	ENST00000404141.1	-	10	2234	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	694	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.H660Y(1)|p.H694Y(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACTGGGAAGTGAAGGGCTCGG	0.468																																						ENST00000404141.1																			2	Substitution - Missense(2)	p.H660Y(1)|p.H694Y(1)	prostate(2)	NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(2080-2082)Cac>Tac		PAX interacting (with transcription-activation domain) protein 1							160.0	166.0	164.0					7																	154754078		1941	4119	6060	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154754078G>A	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2080C>T	7.37:g.154754078G>A	ENSP00000384048:p.His694Tyr					PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y|PAXIP1_ENST00000473219.1_5'UTR	p.H694Y			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	10	2234	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	694			BRCT 3.|Interaction with TP53BP1.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.2080C>T	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210175	0.58343	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.57907	0.37;0.37	4.91	4.91	0.64330	BRCT (2);	0.000000	0.56097	U	0.000022	T	0.73961	0.3654	M	0.79123	2.44	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.81914	0.995;0.994;0.986	T	0.77440	-0.2587	10	0.62326	D	0.03	-41.5024	18.4584	0.90729	0.0:0.0:1.0:0.0	.	647;660;694	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	Y	694;694;518;647	ENSP00000384048:H694Y;ENSP00000380376:H694Y	ENSP00000319149:H647Y	H	-	1	0	PAXIP1	154385011	1.000000	0.71417	0.535000	0.28026	0.492000	0.33523	9.049000	0.93837	2.426000	0.82243	0.467000	0.42956	CAC		0.468	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		5	163	0	0	0	0.021553	0	5	163				
ABCB7	22	broad.mit.edu	37	X	74318818	74318818	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:74318818C>A	ENST00000373394.3	-	4	419	c.412G>T	c.(412-414)Gct>Tct	p.A138S	ABCB7_ENST00000339447.4_Intron|ABCB7_ENST00000253577.3_Missense_Mutation_p.A139S			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	138					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.A139S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAACTCTAGCTCGTAGATCT	0.363																																						ENST00000253577.3																			1	Substitution - Missense(1)	p.A139S(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(415-417)Gct>Tct		ATP-binding cassette, sub-family B (MDR/TAP), member 7							119.0	100.0	107.0					X																	74318818		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74318818C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.412G>T	X.37:g.74318818C>A	ENSP00000362492:p.Ala138Ser					ABCB7_ENST00000373394.3_Missense_Mutation_p.A138S|ABCB7_ENST00000339447.4_Intron	p.A139S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			4	439	-			138					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.415G>T		.	.	.	.	.	.	.	.	.	.	C	12.25	1.881575	0.33255	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;T	0.88124	-2.34;-2.34;-2.3;1.5	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	L	0.39898	1.24	0.80722	D	1	B;B;B	0.28584	0.126;0.077;0.216	B;B;B	0.33799	0.07;0.052;0.17	T	0.79334	-0.1846	10	0.22109	T	0.4	0.5266	16.2258	0.82288	0.0:1.0:0.0:0.0	.	112;138;139	G3V1J3;O75027;O75027-2	.;ABCB7_HUMAN;.	S	112;139;138;112;83;151	ENSP00000253577:A139S;ENSP00000362492:A138S;ENSP00000436586:A112S;ENSP00000435521:A83S	ENSP00000253577:A139S	A	-	1	0	ABCB7	74235543	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.967000	0.76079	2.524000	0.85096	0.544000	0.68410	GCT		0.363	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		55	70	1	0	9.16383e-17	0.139131	1.09169e-16	55	70				
ADAMTS7	11173	broad.mit.edu	37	15	79051880	79051880	+	Silent	SNP	C	C	T	rs1045121		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:79051880C>T	ENST00000388820.4	-	24	5154	c.4944G>A	c.(4942-4944)acG>acA	p.T1648T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1648	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T1648T(5)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGGCGCAGCGTCTCGCAGA	0.697																																						ENST00000388820.4																			5	Substitution - coding silent(5)	p.T1648T(5)	prostate(4)|lung(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4942-4944)acG>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 7							10.0	12.0	11.0					15																	79051880		2154	4234	6388	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79051880C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4944G>A	15.37:g.79051880C>T							p.T1648T	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			24	5154	-			1648			PLAC.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4944G>A	CCDS32303.1																																																																																				0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		5	7	0	0	0	0.014758	0	5	7				
SNX30	401548	broad.mit.edu	37	9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:115631068T>C	ENST00000374232.3	+	9	1423	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	SNX30_ENST00000604751.1_Intron	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	420					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCCAGTGCCTCATGGCGTGG	0.493																																						ENST00000374232.3																			0				large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1258-1260)cTc>cCc		sorting nexin family member 30							175.0	177.0	177.0					9																	115631068		2019	4179	6198	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115631068T>C	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.1259T>C	9.37:g.115631068T>C	ENSP00000363349:p.Leu420Pro					SNX30_ENST00000604751.1_Intron	p.L420P	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN			9	1423	+			420						Missense_Mutation	SNP	ENST00000374232.3	37	c.1259T>C	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085251	0.76642	.	.	ENSG00000148158	ENST00000374232	T	0.49720	0.77	5.43	5.43	0.79202	BAR (1);	0.145736	0.49305	D	0.000158	T	0.65481	0.2695	M	0.69823	2.125	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	T	0.69749	-0.5061	10	0.72032	D	0.01	.	15.4981	0.75673	0.0:0.0:0.0:1.0	.	420	Q5VWJ9	SNX30_HUMAN	P	420	ENSP00000363349:L420P	ENSP00000363349:L420P	L	+	2	0	SNX30	114670889	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.539000	0.67199	2.061000	0.61500	0.533000	0.62120	CTC		0.493	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			3	195	0	0	0	0.150653	0	3	195				
BRDT	676	broad.mit.edu	37	1	92442729	92442729	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:92442729C>G	ENST00000362005.3	+	7	1166	c.748C>G	c.(748-750)Cca>Gca	p.P250A	BRDT_ENST00000399546.2_Missense_Mutation_p.P250A|BRDT_ENST00000402388.1_Missense_Mutation_p.P250A|BRDT_ENST00000394530.3_Missense_Mutation_p.P204A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000370389.2_Missense_Mutation_p.P177A	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	250					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.P250A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAAAATATGCCAAAGAATGT	0.348																																						ENST00000370389.2																			2	Substitution - Missense(2)	p.P250A(2)	prostate(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(529-531)Cca>Gca		bromodomain, testis-specific							65.0	63.0	64.0					1																	92442729		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442729C>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.748C>G	1.37:g.92442729C>G	ENSP00000354568:p.Pro250Ala					BRDT_ENST00000362005.3_Missense_Mutation_p.P250A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000394530.3_Missense_Mutation_p.P204A|BRDT_ENST00000402388.1_Missense_Mutation_p.P250A|BRDT_ENST00000399546.2_Missense_Mutation_p.P250A	p.P177A	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1453	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	250					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.529C>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	5.414	0.261489	0.10239	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.13420	2.85;2.88;2.85;2.94;2.59;2.85	5.33	-3.99	0.04069	Bromodomain (1);	1.687290	0.03276	N	0.185432	T	0.03739	0.0106	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.17465	0.022;0.022;0.0;0.022	B;B;B;B	0.14023	0.01;0.01;0.001;0.01	T	0.47045	-0.9147	10	0.48119	T	0.1	0.3159	6.9821	0.24708	0.0852:0.369:0.4195:0.1263	.	204;204;254;250	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	A	250;177;250;250;204;250;250	ENSP00000354568:P250A;ENSP00000359416:P177A;ENSP00000387822:P250A;ENSP00000378038:P204A;ENSP00000404969:P250A;ENSP00000384051:P250A	ENSP00000354568:P250A	P	+	1	0	BRDT	92215317	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	0.035000	0.13797	-0.359000	0.08150	0.655000	0.94253	CCA		0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	140	0	0	0	0.150653	0	4	140				
KIF2B	84643	broad.mit.edu	37	17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:51900688G>T	ENST00000268919.4	+	1	450	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L98F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCCCCTTGGCTCTGGCGC	0.587																																						ENST00000268919.4																			1	Substitution - Missense(1)	p.L98F(1)	prostate(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(292-294)ttG>ttT		kinesin family member 2B							97.0	107.0	104.0					17																	51900688		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900688G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.294G>T	17.37:g.51900688G>T	ENSP00000268919:p.Leu98Phe						p.L98F	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	450	+			98					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.294G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.633253	0.00806	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74002	-0.8	4.83	1.62	0.23740	.	2.684090	0.01932	N	0.041318	T	0.56470	0.1987	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.43015	-0.9417	10	0.10902	T	0.67	.	5.7492	0.18138	0.0926:0.0:0.5429:0.3645	.	98	Q8N4N8	KIF2B_HUMAN	F	98;21	ENSP00000268919:L98F	ENSP00000268919:L98F	L	+	3	2	KIF2B	49255687	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.724000	0.25954	0.276000	0.22118	-0.244000	0.11960	TTG		0.587	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		6	260	1	0	0.00198382	0.029380	0.00215701	6	260				
OTX2	5015	broad.mit.edu	37	14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:57268617C>G	ENST00000555006.1	-	4	1114	c.706G>C	c.(706-708)Gct>Cct	p.A236P	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.A244P|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P			P32243	OTX2_HUMAN	orthodenticle homeobox 2	236					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)	p.A244P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAAAGAGAAGCTGGGGACTGA	0.502																																						ENST00000339475.5																			1	Substitution - Missense(1)	p.A244P(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(730-732)Gct>Cct		orthodenticle homeobox 2							122.0	117.0	119.0					14																	57268617		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268617C>G	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.706G>C	14.37:g.57268617C>G	ENSP00000452336:p.Ala236Pro					OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P|OTX2_ENST00000555006.1_Missense_Mutation_p.A236P	p.A244P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN			5	1006	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		236					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.730G>C	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254381	0.22965	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.90069	-2.61;-2.6;-2.6	5.65	4.76	0.60689	.	0.146283	0.31612	N	0.007343	D	0.86372	0.5917	M	0.65975	2.015	0.80722	D	1	B;B	0.12630	0.003;0.006	B;B	0.15484	0.004;0.013	T	0.81634	-0.0844	10	0.15066	T	0.55	.	13.6808	0.62484	0.0:0.9268:0.0:0.0732	.	244;236	F1T0D1;P32243	.;OTX2_HUMAN	P	244;236;236	ENSP00000343819:A244P;ENSP00000386185:A236P;ENSP00000452336:A236P	ENSP00000343819:A244P	A	-	1	0	OTX2	56338370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.868000	0.69605	1.616000	0.50265	0.655000	0.94253	GCT		0.502	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		66	128	0	0	0	0.139131	0	66	128				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	27	0	0	0	0.029380	0	4	27				
ARID5B	84159	broad.mit.edu	37	10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:63851205C>G	ENST00000279873.7	+	10	2393	c.1983C>G	c.(1981-1983)gaC>gaG	p.D661E	ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	661					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.D661E(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACAAAGACCTGACTGGGC	0.537																																						ENST00000279873.7																			1	Substitution - Missense(1)	p.D661E(1)	prostate(1)	NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1981-1983)gaC>gaG		AT rich interactive domain 5B (MRF1-like)							69.0	59.0	62.0					10																	63851205		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851205C>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1983C>G	10.37:g.63851205C>G	ENSP00000279873:p.Asp661Glu					ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	p.D661E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	2393	+	Prostate(12;0.016)|all_hematologic(501;0.215)		661					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1983C>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	0.831	-0.745108	0.03065	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.36520	1.25;1.27	5.87	0.683	0.17998	.	0.051506	0.85682	D	0.000000	T	0.09024	0.0223	N	0.02315	-0.6	0.30370	N	0.782973	B	0.02656	0.0	B	0.04013	0.001	T	0.16778	-1.0391	10	0.06757	T	0.87	-25.4974	0.6843	0.00880	0.2011:0.3191:0.2394:0.2404	.	661	Q14865	ARI5B_HUMAN	E	661;418	ENSP00000279873:D661E;ENSP00000308862:D418E	ENSP00000279873:D661E	D	+	3	2	ARID5B	63521211	0.000000	0.05858	0.997000	0.53966	0.983000	0.72400	-0.532000	0.06164	0.400000	0.25396	-0.137000	0.14449	GAC		0.537	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		3	59	0	0	0	0.115264	0	3	59				
ABCD3	5825	broad.mit.edu	37	1	94980700	94980700	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:94980700A>G	ENST00000370214.4	+	22	1869		c.e22-1		ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCTTTGTATTAGGTTGGCATC	0.328																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.e22-1		ATP-binding cassette, sub-family D (ALD), member 3							150.0	142.0	145.0					1																	94980700		2203	4299	6502	SO:0001630	splice_region_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94980700A>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1846-1A>G	1.37:g.94980700A>G						ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site		NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	22	1869	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)						D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Splice_Site	SNP	ENST00000370214.4	37		CCDS749.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957247	0.73902	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1396	0.81513	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCD3	94753288	1.000000	0.71417	0.989000	0.46669	0.826000	0.46750	9.335000	0.96500	2.288000	0.76882	0.528000	0.53228	.		0.328	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	Intron	3	245	0	0	0	0.115264	0	3	245				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	26	0	0	0	0.021553	0	4	26				
OR10Z1	128368	broad.mit.edu	37	1	158576525	158576525	+	Silent	SNP	C	C	T	rs146841755		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:158576525C>T	ENST00000361284.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTGTGCTGCCCAGATGTTCT	0.542																																						ENST00000361284.1																			1	Substitution - coding silent(1)	p.A99A(1)	prostate(1)	endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(295-297)gcC>gcT		olfactory receptor, family 10, subfamily Z, member 1							164.0	171.0	169.0					1																	158576525		2203	4299	6502	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576525C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.297C>T	1.37:g.158576525C>T							p.A99A	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	297	+	all_hematologic(112;0.0378)		99					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.297C>T	CCDS30901.1																																																																																				0.542	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		107	396	0	0	0	0.139131	0	107	396				
PLXNB2	23654	broad.mit.edu	37	22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:50716066T>C	ENST00000449103.1	-	33	5290	c.5150A>G	c.(5149-5151)cAg>cGg	p.Q1717R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R			O15031	PLXB2_HUMAN	plexin B2	1717					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.Q1760R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGAAGGTCTGCGCGATGAC	0.627																																						ENST00000449103.1																			1	Substitution - Missense(1)	p.Q1760R(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5149-5151)cAg>cGg		plexin B2							59.0	65.0	63.0					22																	50716066		2140	4260	6400	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716066T>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5150A>G	22.37:g.50716066T>C	ENSP00000409171:p.Gln1717Arg					PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R	p.Q1717R			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	33	5290	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1717					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.5150A>G	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.99|16.99	3.274483|3.274483	0.59649|0.59649	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337|ENST00000399964	T;T|.	0.16324|.	2.35;2.35|.	3.94|3.94	3.94|3.94	0.45596|0.45596	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.80727|0.80727	0.4678|0.4678	M|M	0.91972|0.91972	3.26|3.26	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85411|0.85411	0.1137|0.1137	10|6	0.87932|0.87932	D|D	0|0	.|.	12.9635|12.9635	0.58472|0.58472	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1717|.	O15031|.	PLXB2_HUMAN|.	R|G	1717|347	ENSP00000409171:Q1717R;ENSP00000352288:Q1717R|.	ENSP00000352288:Q1717R|ENSP00000382845:R347G	Q|R	-|-	2|1	0|2	PLXNB2|PLXNB2	49058193|49058193	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.103000|0.103000	0.19146|0.19146	5.853000|5.853000	0.69496|0.69496	1.648000|1.648000	0.50643|0.50643	0.402000|0.402000	0.26972|0.26972	CAG|AGA		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		3	119	0	0	0	0.150653	0	3	119				
TIGD3	220359	broad.mit.edu	37	11	65123663	65123663	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:65123663A>G	ENST00000309880.5	+	2	591	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	128	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K128K(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCGCTGGAAACGCCGAAACA	0.657																																						ENST00000309880.5																			1	Substitution - coding silent(1)	p.K128K(1)	prostate(1)	endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(382-384)aaA>aaG		tigger transposable element derived 3							41.0	44.0	43.0					11																	65123663		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123663A>G		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.384A>G	11.37:g.65123663A>G							p.K128K	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	591	+			128			HTH CENPB-type.			Silent	SNP	ENST00000309880.5	37	c.384A>G	CCDS8101.1																																																																																				0.657	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		7	62	0	0	0	0.047766	0	7	62				
LBR	3930	broad.mit.edu	37	1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:225607439T>C	ENST00000338179.2	-	4	553	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_ENST00000487054.1_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	143					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.D143G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348																																						ENST00000338179.2																			1	Substitution - Missense(1)	p.D143G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(427-429)gAc>gGc		lamin B receptor							140.0	144.0	143.0					1																	225607439		2203	4299	6502	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225607439T>C	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.428A>G	1.37:g.225607439T>C	ENSP00000339883:p.Asp143Gly					LBR_ENST00000272163.4_Missense_Mutation_p.D143G	p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	4	553	-	Breast(184;0.165)		143			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.428A>G	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	T	7.985	0.751990	0.15778	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	D;D;T	0.97066	-4.23;-4.23;0.49	5.78	0.451	0.16629	.	0.771571	0.13241	N	0.402844	D	0.91415	0.7291	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.81837	-0.0749	10	0.25106	T	0.35	-10.4898	5.1942	0.15227	0.0:0.1625:0.2978:0.5397	.	143;143	C9JXK0;Q14739	.;LBR_HUMAN	G	143	ENSP00000272163:D143G;ENSP00000339883:D143G;ENSP00000388059:D143G	ENSP00000272163:D143G	D	-	2	0	LBR	223674062	0.017000	0.18338	0.001000	0.08648	0.004000	0.04260	0.395000	0.20850	0.104000	0.17725	0.459000	0.35465	GAC		0.348	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		4	297	0	0	0	0.014758	0	4	297				
DPEP1	1800	broad.mit.edu	37	16	89703762	89703762	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:89703762G>A	ENST00000393092.3	+	7	1033	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	DPEP1_ENST00000261615.4_Missense_Mutation_p.V248M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V248M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	248					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.V248M(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCGGCGCAACGTGCCTGACGA	0.682																																						ENST00000393092.3																			1	Substitution - Missense(1)	p.V248M(1)	prostate(1)	large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(742-744)Gtg>Atg		dipeptidase 1 (renal)	Cilastatin(DB01597)						49.0	45.0	47.0					16																	89703762		2190	4287	6477	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703762G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.742G>A	16.37:g.89703762G>A	ENSP00000376807:p.Val248Met					DPEP1_ENST00000261615.4_Missense_Mutation_p.V248M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V248M	p.V248M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	1033	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	248					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.742G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697458	0.68386	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.25414	1.8;1.8;1.8	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.79123	2.44	0.80722	D	1	D	0.69078	0.997	P	0.60068	0.868	T	0.57423	-0.7814	10	0.87932	D	0	-7.3445	18.5466	0.91048	0.0:0.0:1.0:0.0	.	248	P16444	DPEP1_HUMAN	M	248	ENSP00000397313:V248M;ENSP00000376807:V248M;ENSP00000261615:V248M	ENSP00000261615:V248M	V	+	1	0	DPEP1	88231263	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.613000	0.82986	2.389000	0.81357	0.491000	0.48974	GTG		0.682	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		3	42	0	0	0	0.150653	0	3	42				
ROS1	6098	broad.mit.edu	37	6	117663708	117663708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:117663708C>A	ENST00000368508.3	-	28	4723		c.e28-1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGAAATTCCTGTAATTGAT	0.254			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	3	Unknown(3)	p.?(3)	prostate(3)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e28-1		c-ros oncogene 1 , receptor tyrosine kinase							46.0	48.0	47.0					6																	117663708		2200	4291	6491	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117663708C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4525-1G>T	6.37:g.117663708C>A						GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site		NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	28	4723	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)						Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37		CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398645	0.42512	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8443	0.70249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117770401	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	4.893000	0.63199	2.655000	0.90218	0.561000	0.74099	.		0.254	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron	14	46	1	0	4.3838e-07	0.105934	5.0469e-07	14	46				
RFPL1	5988	broad.mit.edu	37	22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:29837851C>T	ENST00000354373.2	+	2	903	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	232	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGCACGGTGCCGCTGACTTT	0.522																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(694-696)Ccg>Tcg		ret finger protein-like 1							121.0	106.0	111.0					22																	29837851		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837851C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.694C>T	22.37:g.29837851C>T	ENSP00000346342:p.Pro232Ser					RFPL1S_ENST00000461286.2_RNA	p.P232S	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	903	+			232			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.694C>T	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162547	0.38217	.	.	ENSG00000128250	ENST00000354373	T	0.69435	-0.4	0.723	0.723	0.18231	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.76990	0.4065	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62421	-0.6858	9	0.87932	D	0	.	7.2768	0.26290	0.0:0.9999:0.0:1.0E-4	.	232	O75677	RFPL1_HUMAN	S	232	ENSP00000346342:P232S	ENSP00000346342:P232S	P	+	1	0	RFPL1	28167851	0.000000	0.05858	0.027000	0.17364	0.161000	0.22273	-0.245000	0.08890	0.669000	0.31146	0.184000	0.17185	CCG		0.522	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		4	163	0	0	0	0.014758	0	4	163				
MTMR12	54545	broad.mit.edu	37	5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:32274132A>C	ENST00000382142.3	-	3	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C|MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	80						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.F80C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAATCTTGAAGTCTGTGCA	0.483																																						ENST00000382142.3																			1	Substitution - Missense(1)	p.F80C(1)	prostate(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(238-240)tTc>tGc		myotubularin related protein 12							203.0	175.0	185.0					5																	32274132		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32274132A>C	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.239T>G	5.37:g.32274132A>C	ENSP00000371577:p.Phe80Cys					MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C|MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C	p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			3	409	-			80					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.239T>G	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999567	0.74818	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.85955	-2.05;-2.05;-2.05	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.75264	2.295	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	D	0.92762	0.6225	10	0.87932	D	0	.	14.6502	0.68792	1.0:0.0:0.0:0.0	.	80;80;80	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	C	80	ENSP00000280285:F80C;ENSP00000371577:F80C;ENSP00000264934:F80C	ENSP00000264934:F80C	F	-	2	0	MTMR12	32309889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.410000	0.73294	1.912000	0.55364	0.448000	0.29417	TTC		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		12	310	0	0	0	0.105934	0	12	310				
PIP5K1C	23396	broad.mit.edu	37	19	3641788	3641788	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:3641788C>T	ENST00000335312.3	-	15	1790	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A568T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	568					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.A568T(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTCTTCCGCGGGTGGCTCC	0.637																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - Missense(1)	p.A568T(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1702-1704)Gcg>Acg		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							79.0	61.0	67.0					19																	3641788		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3641788C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1702G>A	19.37:g.3641788C>T	ENSP00000335333:p.Ala568Thr					PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A568T	p.A568T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	15	1790	-		Hepatocellular(1079;0.137)	568					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1702G>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	3.075	-0.190211	0.06299	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.26660	1.74;1.74;1.72	4.63	4.63	0.57726	.	0.409434	0.23556	N	0.046920	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B;B	0.34313	0.391;0.448	B;B	0.24394	0.053;0.023	T	0.12760	-1.0535	10	0.13108	T	0.6	-4.2187	16.5273	0.84334	0.0:1.0:0.0:0.0	.	568;568	O60331-3;O60331	.;PI51C_HUMAN	T	568	ENSP00000335333:A568T;ENSP00000445992:A568T;ENSP00000444779:A568T	ENSP00000335333:A568T	A	-	1	0	PIP5K1C	3592788	0.014000	0.17966	0.003000	0.11579	0.001000	0.01503	2.673000	0.46858	2.140000	0.66376	0.603000	0.83216	GCG		0.637	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		28	44	0	0	0	0.116897	0	28	44				
UTP3	57050	broad.mit.edu	37	4	71555682	71555682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:71555682C>T	ENST00000254803.2	+	1	1487	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	430					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R430C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAAGATTGATCGCAATCCCAG	0.408																																						ENST00000254803.2																			1	Substitution - Missense(1)	p.R430C(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(1288-1290)Cgc>Tgc		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							105.0	110.0	108.0					4																	71555682		2203	4300	6503	SO:0001583	missense	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555682C>T	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1288C>T	4.37:g.71555682C>T	ENSP00000254803:p.Arg430Cys						p.R430C	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1487	+			430					Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	c.1288C>T	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569866	0.65765	.	.	ENSG00000132467	ENST00000254803	T	0.59083	0.29	5.46	3.57	0.40892	Something about silencing protein 10 (Sas10), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84256	0.0480	10	0.87932	D	0	-3.878	9.9368	0.41556	0.2506:0.6808:0.0:0.0686	.	430	Q9NQZ2	SAS10_HUMAN	C	430	ENSP00000254803:R430C	ENSP00000254803:R430C	R	+	1	0	UTP3	71774546	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.548000	0.53670	1.369000	0.46134	0.655000	0.94253	CGC		0.408	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		5	215	0	0	0	0.014758	0	5	215				
HIST1H2BH	8345	broad.mit.edu	37	6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26252136G>T	ENST00000356350.2	+	1	258	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	86					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K86N(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ATTACAACAAGCGTTCGACCA	0.607																																						ENST00000356350.2																			1	Substitution - Missense(1)	p.K86N(1)	prostate(1)	NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						c.(256-258)aaG>aaT		histone cluster 1, H2bh							90.0	94.0	93.0					6																	26252136		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252136G>T	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.258G>T	6.37:g.26252136G>T	ENSP00000348706:p.Lys86Asn						p.K86N	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN			1	258	+			86					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.258G>T	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	15.28	2.787917	0.49997	.	.	ENSG00000197459	ENST00000356350	T	0.75050	-0.9	4.48	2.66	0.31614	Histone-fold (2);Histone core (1);	0.000000	0.41500	U	0.000874	T	0.75561	0.3866	M	0.69248	2.105	0.29268	N	0.870859	D	0.71674	0.998	D	0.72625	0.978	T	0.70923	-0.4740	10	0.87932	D	0	.	10.4583	0.44563	0.1654:0.0:0.8346:0.0	.	86	Q93079	H2B1H_HUMAN	N	86	ENSP00000348706:K86N	ENSP00000348706:K86N	K	+	3	2	HIST1H2BH	26360115	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	3.839000	0.55835	0.574000	0.29417	0.543000	0.68304	AAG		0.607	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		15	167	1	0	1.35283e-19	0.146539	1.62577e-19	15	167				
SH3TC2	79628	broad.mit.edu	37	5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:148407223G>A	ENST00000515425.1	-	11	2173	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	SH3TC2_ENST00000538184.1_Missense_Mutation_p.A238V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	691					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.A576V(1)|p.A691V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACAGAGGCCACTGCAAG	0.527																																						ENST00000538184.1																			2	Substitution - Missense(2)	p.A576V(1)|p.A691V(1)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(712-714)gCc>gTc		SH3 domain and tetratricopeptide repeats 2							117.0	124.0	121.0					5																	148407223		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407223G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2072C>T	5.37:g.148407223G>A	ENSP00000423660:p.Ala691Val					SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V	p.A238V			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1601	-			691					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.713C>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064834	0.55432	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	6.16	5.3	0.74995	.	0.059169	0.64402	D	0.000003	T	0.81093	0.4751	M	0.70275	2.135	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.982;0.999;0.999;0.999	D	0.83556	0.0104	10	0.87932	D	0	-17.2659	15.6426	0.77016	0.0653:0.0:0.9347:0.0	.	576;684;691;691	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	V	238;691;684;576	ENSP00000441427:A238V;ENSP00000423660:A691V;ENSP00000421860:A684V;ENSP00000377886:A576V	ENSP00000377886:A576V	A	-	2	0	SH3TC2	148387416	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	9.353000	0.97080	1.632000	0.50472	0.650000	0.86243	GCC		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		49	176	0	0	0	0.139131	0	49	176				
UNC13A	23025	broad.mit.edu	37	19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:17780382G>A	ENST00000519716.2	-	5	373	c.374C>T	c.(373-375)aCg>aTg	p.T125M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000428389.2_Missense_Mutation_p.T213M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612																																						ENST00000428389.2																			4	Substitution - Missense(4)	p.T213M(2)|p.T125M(2)	prostate(2)|lung(2)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(637-639)aCg>aTg		unc-13 homolog A (C. elegans)							38.0	42.0	41.0					19																	17780382		2053	4191	6244	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17780382G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.374C>T	19.37:g.17780382G>A	ENSP00000429562:p.Thr125Met					UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M	p.T213M			Q9UPW8	UN13A_HUMAN			6	637	-			125					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.638C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361399	0.82353	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.92	4.92	0.64577	C2 calcium/lipid-binding domain, CaLB (1);	0.063724	0.64402	U	0.000009	T	0.65375	0.2685	L	0.52759	1.655	0.37414	D	0.913368	P	0.47677	0.899	B	0.39876	0.312	T	0.74044	-0.3791	10	0.49607	T	0.09	-13.1865	15.6173	0.76778	0.0:0.0:1.0:0.0	.	125	Q9UPW8	UN13A_HUMAN	M	125;213;125;125;125;125	ENSP00000429562:T125M;ENSP00000400409:T213M;ENSP00000252773:T125M;ENSP00000447236:T125M;ENSP00000447572:T125M;ENSP00000446831:T125M	ENSP00000252773:T125M	T	-	2	0	UNC13A	17641382	1.000000	0.71417	0.945000	0.38365	0.925000	0.55904	6.480000	0.73604	2.283000	0.76528	0.561000	0.74099	ACG		0.612	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		3	64	0	0	0	0.150653	0	3	64				
TRIM25	7706	broad.mit.edu	37	17	54969322	54969322	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:54969322G>A	ENST00000316881.4	-	9	1681	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	RP11-670E13.5_ENST00000574826.1_RNA|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Silent_p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	544	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R544R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AGGCGCTGTTGCGGCCGAGCC	0.602																																						ENST00000316881.4																			2	Substitution - coding silent(2)	p.R544R(2)	prostate(2)	breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1630-1632)cgC>cgT		tripartite motif containing 25							79.0	70.0	73.0					17																	54969322		2203	4300	6503	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969322G>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1632C>T	17.37:g.54969322G>A						TRIM25_ENST00000537230.1_Silent_p.R544R	p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			9	1681	-	Breast(9;6.15e-08)		544			B30.2/SPRY.			Silent	SNP	ENST00000316881.4	37	c.1632C>T	CCDS11591.1																																																																																				0.602	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		37	94	0	0	0	0.092188	0	37	94				
PPP2R5D	5528	broad.mit.edu	37	6	42975223	42975223	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:42975223C>T	ENST00000485511.1	+	6	884	c.705C>T	c.(703-705)atC>atT	p.I235I	PPP2R5D_ENST00000472118.1_Silent_p.I227I|PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000394110.3_Silent_p.I203I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	235					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.I235I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGTACATCGACCAGAAGT	0.512																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			1	Substitution - coding silent(1)	p.I235I(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(703-705)atC>atT		protein phosphatase 2, regulatory subunit B', delta							238.0	221.0	227.0					6																	42975223		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975223C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.705C>T	6.37:g.42975223C>T						PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000394110.3_Silent_p.I203I|PPP2R5D_ENST00000472118.1_Silent_p.I227I	p.I235I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	884	+			235					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.705C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231333	0.22626	.	.	ENSG00000112640	ENST00000470467	.	.	.	5.84	-0.473	0.12112	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.1097	6.408	0.21676	0.0:0.3523:0.1289:0.5187	.	.	.	.	X	155	.	.	R	+	1	2	PPP2R5D	43083201	0.304000	0.24472	0.997000	0.53966	0.993000	0.82548	-0.301000	0.08232	-0.079000	0.12707	-0.302000	0.09304	CGA		0.512	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		16	224	0	0	0	0.043863	0	16	224				
ZNF98	148198	broad.mit.edu	37	19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22585674G>T	ENST00000357774.5	-	3	291	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	57	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)	p.S57Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393																																						ENST00000357774.5																			2	Substitution - Missense(2)	p.S57Y(2)	prostate(2)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(169-171)tCt>tAt		zinc finger protein 98																																				SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22585674G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.170C>A	19.37:g.22585674G>T	ENSP00000350418:p.Ser57Tyr					ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			3	291	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	57			KRAB.			Missense_Mutation	SNP	ENST00000357774.5	37	c.170C>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	14.84	2.656178	0.47467	.	.	ENSG00000197360	ENST00000357774	T	0.00864	5.6	0.476	0.476	0.16779	Krueppel-associated box (3);	.	.	.	.	T	0.03608	0.0103	M	0.74881	2.28	0.21878	N	0.999498	D	0.64830	0.994	D	0.65010	0.931	T	0.33574	-0.9863	8	0.56958	D	0.05	.	.	.	.	.	57	A6NK75	ZNF98_HUMAN	Y	57	ENSP00000350418:S57Y	ENSP00000350418:S57Y	S	-	2	0	ZNF98	22377514	0.164000	0.22935	0.816000	0.32577	0.950000	0.60333	0.418000	0.21230	0.532000	0.28657	0.298000	0.19748	TCT		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		34	130	1	0	3.03874e-20	0.183431	3.68414e-20	34	130				
SNCAIP	9627	broad.mit.edu	37	5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:121786251G>T	ENST00000261368.8	+	10	1971	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R617I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|CTC-210G5.1_ENST00000505546.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	570					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.R617I(1)|p.R570I(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTGCCTCCAGAAAGTCCCAG	0.458																																						ENST00000261367.7																			2	Substitution - Missense(2)	p.R617I(1)|p.R570I(1)	prostate(2)	NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1849-1851)aGa>aTa		synuclein, alpha interacting protein							117.0	132.0	127.0					5																	121786251		2203	4299	6502	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786251G>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1709G>T	5.37:g.121786251G>T	ENSP00000261368:p.Arg570Ile					CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I	p.R617I			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3278	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	570					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1850G>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336585	0.41398	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.13538	4.42;4.92;2.63;2.58;4.92;4.91;2.58;4.64	5.92	4.11	0.48088	.	0.296144	0.35772	N	0.002997	T	0.07279	0.0184	N	0.08118	0	0.41394	D	0.987636	B;B;B;B;B;B;B;B	0.34015	0.138;0.112;0.25;0.006;0.355;0.017;0.435;0.01	B;B;B;B;B;B;B;B	0.30495	0.051;0.034;0.037;0.005;0.101;0.009;0.116;0.002	T	0.36529	-0.9744	10	0.37606	T	0.19	-15.2987	12.3913	0.55360	0.0649:0.119:0.8161:0.0	.	510;198;172;510;204;204;617;570	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	I	128;510;570;617;510;204;617;172;210	ENSP00000441681:R128I;ENSP00000422106:R510I;ENSP00000261368:R570I;ENSP00000368848:R617I;ENSP00000368851:R510I;ENSP00000368854:R204I;ENSP00000261367:R617I;ENSP00000394392:R172I	ENSP00000261367:R617I	R	+	2	0	SNCAIP	121814150	1.000000	0.71417	0.705000	0.30386	0.931000	0.56810	2.492000	0.45311	0.796000	0.33947	0.655000	0.94253	AGA		0.458	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			11	348	1	0	3.86212e-05	0.069234	4.33697e-05	11	348				
SUPT5H	6829	broad.mit.edu	37	19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:39959750A>G	ENST00000599117.1	+	16	1542	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	392	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.E392G(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACTCTCTGAGCTGGAAAAG	0.567																																						ENST00000599117.1																			1	Substitution - Missense(1)	p.E392G(1)	prostate(1)	breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1174-1176)gAg>gGg		suppressor of Ty 5 homolog (S. cerevisiae)							80.0	84.0	83.0					19																	39959750		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39959750A>G	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1175A>G	19.37:g.39959750A>G	ENSP00000470252:p.Glu392Gly					SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G	p.E392G			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		16	1542	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		392			Interaction with RNA polymerase II.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.1175A>G	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822442	0.90873	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.67	5.67	0.87782	.	0.054469	0.64402	D	0.000001	D	0.86981	0.6064	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.996	D	0.90756	0.4661	8	.	.	.	-25.4719	14.9018	0.70684	1.0:0.0:0.0:0.0	.	184;388;392	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	G	392;388;370;392	.	.	E	+	2	0	SUPT5H	44651590	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	9.125000	0.94402	2.179000	0.69175	0.528000	0.53228	GAG		0.567	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		17	115	0	0	0	0.062417	0	17	115				
SMG7	9887	broad.mit.edu	37	1	183513545	183513545	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:183513545G>C	ENST00000347615.2	+	15	2019	c.1900G>C	c.(1900-1902)Gta>Cta	p.V634L	SMG7_ENST00000515829.2_Missense_Mutation_p.V588L|SMG7_ENST00000507469.1_Missense_Mutation_p.V588L|SMG7_ENST00000508461.1_Missense_Mutation_p.V592L|SMG7_ENST00000367537.3_Missense_Mutation_p.V617L|SMG7_ENST00000456731.2_Missense_Mutation_p.V546L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	634					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.V634L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAAACACCTGTAACTCAAAC	0.423																																						ENST00000367537.3																			1	Substitution - Missense(1)	p.V634L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1849-1851)Gta>Cta		SMG7 nonsense mediated mRNA decay factor							125.0	116.0	119.0					1																	183513545		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183513545G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1900G>C	1.37:g.183513545G>C	ENSP00000340766:p.Val634Leu					SMG7_ENST00000347615.2_Missense_Mutation_p.V634L|SMG7_ENST00000515829.2_Missense_Mutation_p.V588L|SMG7_ENST00000508461.1_Missense_Mutation_p.V592L|SMG7_ENST00000507469.1_Missense_Mutation_p.V588L|SMG7_ENST00000456731.2_Missense_Mutation_p.V546L	p.V617L			Q92540	SMG7_HUMAN			16	2044	+			634					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1849G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920521	0.52653	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.91	5.91	0.95273	.	0.321407	0.32578	N	0.005918	T	0.49321	0.1550	L	0.27053	0.805	0.58432	D	0.999999	P;P;P;P;P;D	0.53151	0.905;0.788;0.788;0.865;0.905;0.958	B;B;B;B;B;P	0.48552	0.427;0.335;0.335;0.397;0.427;0.581	T	0.28459	-1.0043	10	0.16420	T	0.52	-3.0236	20.2985	0.98592	0.0:0.0:1.0:0.0	.	592;617;546;588;634;588	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	546;617;592;546;634;588;588	ENSP00000407629:V546L;ENSP00000356507:V617L;ENSP00000426915:V592L;ENSP00000388390:V546L;ENSP00000340766:V634L;ENSP00000425133:V588L;ENSP00000421358:V588L	ENSP00000340766:V634L	V	+	1	0	SMG7	181780168	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.182000	0.94881	2.793000	0.96121	0.655000	0.94253	GTA		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	182	0	0	0	0.150653	0	4	182				
CDH12	1010	broad.mit.edu	37	5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:21755850G>A	ENST00000382254.1	-	14	2821	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	579	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|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)	p.Q579*(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGCTGCTCTGGACAGGGTAG	0.468										HNSCC(59;0.17)																												ENST00000382254.1																			1	Substitution - Nonsense(1)	p.Q579*(1)	prostate(1)	NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1735-1737)Cag>Tag		cadherin 12, type 2 (N-cadherin 2)							186.0	152.0	164.0					5																	21755850		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755850G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1735C>T	5.37:g.21755850G>A	ENSP00000371689:p.Gln579*	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*	p.Q579*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			14	2821	-			579			Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.1735C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	42	9.822160	0.99272	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.47	5.47	0.80525	.	0.105656	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3164	0.94215	0.0:0.0:1.0:0.0	.	.	.	.	X	579;579;539	.	ENSP00000371689:Q579X	Q	-	1	0	CDH12	21791607	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.819000	0.62664	2.572000	0.86782	0.460000	0.39030	CAG		0.468	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		4	207	0	0	0	0.021553	0	4	207				
FSCN2	25794	broad.mit.edu	37	17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:79496338G>T	ENST00000417245.2	+	1	917	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	RP13-766D20.2_ENST00000442532.1_RNA|RP13-766D20.2_ENST00000430912.1_RNA|FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	261					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.V261L(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCACCCACAGGTGGTGCTGGT	0.662																																						ENST00000417245.2																			2	Substitution - Missense(2)	p.V261L(2)	prostate(2)	endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(781-783)Gtg>Ttg		fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)							12.0	14.0	13.0					17																	79496338		2175	4241	6416	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79496338G>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.781G>T	17.37:g.79496338G>T	ENSP00000388716:p.Val261Leu					FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		1	917	+	all_neural(118;0.0878)|Melanoma(429;0.242)		261					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.781G>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388000	0.82902	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.36878	1.23;1.28	4.65	4.65	0.58169	Actin cross-linking (1);	0.000000	0.64402	D	0.000001	T	0.62925	0.2468	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.957;1.0	D;D	0.78314	0.914;0.991	T	0.66164	-0.5992	10	0.41790	T	0.15	-20.04	16.6572	0.85231	0.0:0.0:1.0:0.0	.	261;261	O14926;A8MRA6	FSCN2_HUMAN;.	L	261	ENSP00000388716:V261L;ENSP00000334665:V261L	ENSP00000334665:V261L	V	+	1	0	FSCN2	77110933	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.192000	0.94947	2.266000	0.75297	0.460000	0.39030	GTG		0.662	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		4	7	1	0	0.150653	0.150653	0.158766	4	7				
FERMT3	83706	broad.mit.edu	37	11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:63978262G>T	ENST00000279227.5	+	3	435	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	114					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)	p.A114S(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCTCCGTGCCAGCTTCTC	0.667																																						ENST00000279227.5																			2	Substitution - Missense(2)	p.A114S(2)	prostate(2)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(340-342)Gcc>Tcc		fermitin family member 3							74.0	85.0	81.0					11																	63978262		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63978262G>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.340G>T	11.37:g.63978262G>T	ENSP00000279227:p.Ala114Ser					FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			3	435	+			114					Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.340G>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170157	0.57584	.	.	ENSG00000149781	ENST00000544997;ENST00000345728;ENST00000279227	T;T;T	0.16196	2.36;2.36;2.36	3.68	2.76	0.32466	Band 4.1 domain (1);	0.220204	0.36740	N	0.002431	T	0.13670	0.0331	L	0.34521	1.04	0.29712	N	0.839325	B;B	0.20164	0.042;0.001	B;B	0.23419	0.046;0.005	T	0.11203	-1.0597	10	0.87932	D	0	-16.5228	9.9831	0.41826	0.104:0.0:0.896:0.0	.	114;114	Q86UX7-2;Q86UX7	.;URP2_HUMAN	S	114	ENSP00000445778:A114S;ENSP00000339950:A114S;ENSP00000279227:A114S	ENSP00000279227:A114S	A	+	1	0	FERMT3	63734838	0.995000	0.38212	0.738000	0.30950	0.902000	0.53008	3.589000	0.53972	0.905000	0.36596	0.555000	0.69702	GCC		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		6	192	1	0	0.00198382	0.029380	0.00215701	6	192				
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	759						7	759	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73437147	73437148	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:73437147_73437148insA	ENST00000263666.4	-	8	1603_1604	c.1489_1490insT	c.(1489-1491)tcafs	p.S497fs	PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.S154fs|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.S214fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.S154fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.S219fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	497	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATCAGCAATGAAAAGTTTTTA	0.421																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1489-1491)attfs		PDZ domain containing ring finger 3																																				SO:0001589	frameshift_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73437147_73437148insA	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1490dupT	3.37:g.73437151_73437151dupA	ENSP00000263666:p.Ser497fs					PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.I154fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.I214fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.I154fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.I219fs	p.I497fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	8	1603_1604	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	497			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Frame_Shift_Ins	INS	ENST00000263666.4	37	c.1489_1490insT	CCDS33789.1																																																																																				0.421	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		265	502						265	502	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150886733	150886733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:150886733delA	ENST00000261800.5	-	22	12511	c.12499delT	c.(12499-12501)tggfs	p.W4167fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4167					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGACCAGGTTCTCTTA	0.557																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12499-12501)ggfs		FAT atypical cadherin 2							85.0	84.0	85.0					5																	150886733		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150886733delA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12499delT	5.37:g.150886733delA	ENSP00000261800:p.Trp4167fs						p.W4167fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12511	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4167					O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.12499delT	CCDS4317.1																																																																																				0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		57	163						57	163	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Intron	INS	-	-	GAATA	rs55947300|rs10124596|rs71372053	byFrequency	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:78790207_78790208insGAATA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.-689fs|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaatag	0.342																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2062-2064)aatfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790207_78790208insGAATA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+162->GAATA	9.37:g.78790213_78790217dupGAATA						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.N688fs			Q92824	PCSK5_HUMAN			14	2574_2575	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.2062_2063insGAATA	CCDS55320.1																																																																																				0.342	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	8						4	8	---	---	---	---
PIPSL	266971	broad.mit.edu	37	10	95718422	95718422	+	RNA	DEL	T	T	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:95718422delT	ENST00000480546.1	-	0	2875					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										tctttctttcttttttttttG	0.303																																						ENST00000480546.1																			0																																																			0							g.chr10:95718422delT	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718422delT								NR_002319.2						0	2875	-								Q6NUK8	RNA	DEL	ENST00000480546.1	37																																																																																						0.303	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		2	4						2	4	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24621084	24621085	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:24621084_24621085delGA	ENST00000324103.6	+	11	2333_2334	c.2013_2014delGA	c.(2011-2016)aggaacfs	p.N672fs	RNF31_ENST00000382687.3_Frame_Shift_Del_p.N521fs|RP11-468E2.4_ENST00000558468.1_Frame_Shift_Del_p.N147fs|RNF31_ENST00000559275.1_Frame_Shift_Del_p.N521fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	672					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGACACCCAGGAACTATGAGTT	0.634																																						ENST00000558468.1																			0											c.(436-441)agacfs																																						SO:0001589	frameshift_variant	0							g.chr14:24621084_24621085delGA	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2013_2014delGA	14.37:g.24621084_24621085delGA	ENSP00000315112:p.Asn672fs					RNF31_ENST00000559275.1_Frame_Shift_Del_p.RN520fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.RN520fs|RNF31_ENST00000324103.6_Frame_Shift_Del_p.RN671fs	p.RN146fs							3	438_439	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Frame_Shift_Del	DEL	ENST00000324103.6	37	c.438_439delGA	CCDS41931.1																																																																																				0.634	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		29	213						29	213	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	CGTTCT	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:38061220_38061225delCGTTCT	ENST00000250448.2	-	2	825_830	c.764_769delAGAACG	c.(763-771)gagaacggc>ggc	p.EN255del	FOXA1_ENST00000540786.1_In_Frame_Del_p.EN222del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	255					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTT	0.694																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(763-771)ggc>g		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061220_38061225delCGTTCT	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.764_769delAGAACG	14.37:g.38061220_38061225delCGTTCT	ENSP00000250448:p.Glu255_Asn256del					FOXA1_ENST00000540786.1_In_Frame_Del_p.ENG222del|FOXA1_ENST00000545425.2_5'UTR	p.ENG255del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	825_830	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		255					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.764_769delAGAACG	CCDS9665.1																																																																																				0.694	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	24						12	24	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:49982165_49982166insC	ENST00000594009.1	+	5	421_422		c.e5-1		CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Splice_Site|FLT3LG_ENST00000595510.1_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000596435.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000597551.1_Splice_Site	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688																																						ENST00000595510.1																			1	Deletion - Frameshift(1)	p.S118fs*24(1)	upper_aerodigestive_tract(1)	large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.e5-1		fms-related tyrosine kinase 3 ligand																																				SO:0001630	splice_region_variant	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49982165_49982166insC	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1->C	19.37:g.49982174_49982174dupC						CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_Splice_Site|FLT3LG_ENST00000595815.1_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000594009.1_Splice_Site|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000596435.1_Intron				P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	397_398	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						A0AVC2|B9EGH2|Q05C96	Splice_Site	INS	ENST00000594009.1	37		CCDS12767.1																																																																																				0.688	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1		Intron	2	4						2	4	---	---	---	---
OSER1	51526	broad.mit.edu	37	20	42831694	42831697	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:42831694_42831697delACAG	ENST00000372970.2	-	5	275_278	c.95_98delCTGT	c.(94-99)tctgttfs	p.SV32fs	OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	32					cellular response to hydrogen peroxide (GO:0070301)												GCCTTCTCCAACAGACAGAGATGC	0.417																																						ENST00000372970.2																			0											c.(94-99)ttfs		oxidative stress responsive serine-rich 1																																				SO:0001589	frameshift_variant	51526							g.chr20:42831694_42831697delACAG	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.95_98delCTGT	20.37:g.42831698_42831701delACAG	ENSP00000362061:p.Ser32fs					OSER1_ENST00000255174.2_Frame_Shift_Del_p.SV32fs	p.SV32fs							5	275_278	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Frame_Shift_Del	DEL	ENST00000372970.2	37	c.95_98delCTGT	CCDS13327.1																																																																																				0.417	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		35	72						35	72	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	lincRNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs374603250|rs111212420|rs117834183		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538																																						ENST00000432910.1																			0																																																			0							g.chr20:58889651_58889662delCATTCTCCCATT																													20.37:g.58889651_58889662delCATTCTCCCATT								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.538	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			3	6						3	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085429	11085470	+	RNA	DEL	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	-	rs370044582|rs112899314|rs77541272|rs373147926|rs10433150|rs28598873|rs201127257|rs62211964|rs62211965|rs62211966|rs10446207|rs10446208|rs113411655|rs375139468|rs75467089		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:11085429_11085470delACCACCACCACCACCACCACCACCATCACCACTACCACTACC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaccaccaccaccaccaccaccaccatcaccactaccactaccaccaccacca	0.521																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085429_11085470delACCACCACCACCACCACCACCACCATCACCACTACCACTACC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085429_11085470delACCACCACCACCACCACCACCACCATCACCACTACCACTACC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.521	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	9						5	9	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085560	11085560	+	RNA	DEL	T	T	-	rs377092550|rs147223908		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:11085560delT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccactaccaccacca	0.592																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085560delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085560delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.592	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
