#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
AHNAK	79026	broad.mit.edu	37	11	62287084	62287084	+	Silent	SNP	C	C	T	rs149805243		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14803-14805)ccG>ccA		AHNAK nucleoprotein		C	,	1,4403	2.1+/-5.4	0,1,2201	93.0	87.0	89.0		14805,	0.1	0.3	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154	,	4935/5891,	62287084	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287084C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14805G>A	11.37:g.62287084C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4935P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15079	-		Melanoma(852;0.155)	4935					A1A586	Silent	SNP	ENST00000378024.4	37	c.14805G>A	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	156	0	0	0	1	0	6	156				
SVEP1	79987	broad.mit.edu	37	9	113171073	113171073	+	Silent	SNP	C	C	T	rs373455337		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:113171073C>T	ENST00000401783.2	-	38	7143	c.6807G>A	c.(6805-6807)ccG>ccA	p.P2269P	SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2269	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P2272P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGGATCGGGGGAGGTT	0.478																																						ENST00000401783.2																			1	Substitution - coding silent(1)	p.P2272P(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6805-6807)ccG>ccA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1		C		0,3854		0,0,1927	138.0	136.0	137.0		6807	-11.6	0.1	9		137	1,8297		0,1,4148	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6075	TT,TC,CC		0.0121,0.0,0.0082		2269/3572	113171073	1,12151	1927	4149	6076	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171073C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6807G>A	9.37:g.113171073C>T						SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	p.P2269P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7143	-			2269			Sushi 15.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.6807G>A	CCDS48004.1																																																																																				0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				65	86	0	0	0	1	0	65	86				
HNF4G	3174	broad.mit.edu	37	8	76470774	76470774	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:76470774G>A	ENST00000354370.1	+	8	884	c.614G>A	c.(613-615)cGc>cAc	p.R205H	HNF4G_ENST00000396423.2_Missense_Mutation_p.R242H			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	205					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTATTCACCGCAACAGCTGT	0.378																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(724-726)cGc>cAc		hepatocyte nuclear factor 4, gamma							121.0	118.0	119.0					8																	76470774		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76470774G>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.614G>A	8.37:g.76470774G>A	ENSP00000346339:p.Arg205His					HNF4G_ENST00000354370.1_Missense_Mutation_p.R205H	p.R242H	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		7	849	+	Breast(64;0.0448)		205					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.725G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.267296	0.95399	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.96992	-4.2;-4.2	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.946	D	0.98971	1.0801	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	242;205	F1D8Q4;Q14541	.;HNF4G_HUMAN	H	205;242	ENSP00000346339:R205H;ENSP00000379701:R242H	ENSP00000346339:R205H	R	+	2	0	HNF4G	76633329	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.414000	0.97362	2.809000	0.96659	0.655000	0.94253	CGC		0.378	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		4	208	0	0	0	1	0	4	208				
DNAH2	146754	broad.mit.edu	37	17	7663154	7663154	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr17:7663154G>A	ENST00000572933.1	+	17	4143	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	895	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGTCAATGACATTGGCAA	0.507																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2683-2685)Gac>Aac		dynein, axonemal, heavy chain 2							271.0	240.0	251.0					17																	7663154		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663154G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2683G>A	17.37:g.7663154G>A	ENSP00000458355:p.Asp895Asn					DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N	p.D895N			Q9P225	DYH2_HUMAN			17	4143	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	895			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2683G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	8.382	0.837736	0.16891	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22743	1.94	5.35	4.17	0.49024	.	0.539063	0.18562	N	0.137590	T	0.08133	0.0203	N	0.03050	-0.425	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25257	-1.0137	10	0.13108	T	0.6	.	10.2419	0.43316	0.1719:0.0:0.8281:0.0	.	895	Q9P225	DYH2_HUMAN	N	895	ENSP00000373825:D895N	ENSP00000353818:D895N	D	+	1	0	DNAH2	7603879	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.645000	0.54389	2.519000	0.84933	0.491000	0.48974	GAC		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	218	0	0	0	1	0	5	218				
DUOX1	53905	broad.mit.edu	37	15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1519-1521)Cgg>Tgg		dual oxidase 1							116.0	110.0	112.0					15																	45433222		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433222C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1519C>T	15.37:g.45433222C>T	ENSP00000317997:p.Arg507Trp					DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W	p.R507W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1926	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	507			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1519C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373255	0.61624	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73469	-0.75;-0.75	4.46	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89483	0.3751	10	0.87932	D	0	-18.5535	10.9307	0.47215	0.3523:0.6477:0.0:0.0	.	507	Q9NRD9	DUOX1_HUMAN	W	507	ENSP00000317997:R507W;ENSP00000373689:R507W	ENSP00000317997:R507W	R	+	1	2	DUOX1	43220514	1.000000	0.71417	0.975000	0.42487	0.305000	0.27757	3.071000	0.50041	0.545000	0.28902	0.650000	0.86243	CGG		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	118	0	0	0	1	0	4	118				
FAM171A1	221061	broad.mit.edu	37	10	15255062	15255062	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:15255062G>A	ENST00000378116.4	-	8	2531	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	842						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCCGAGGGGGCATCCGCAGT	0.617																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2524-2526)gCc>gTc		family with sequence similarity 171, member A1							97.0	103.0	101.0					10																	15255062		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255062G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2525C>T	10.37:g.15255062G>A	ENSP00000367356:p.Ala842Val						p.A842V	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2531	-			842					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2525C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	2.561	-0.301862	0.05495	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.28895	1.59	5.1	-9.64	0.00541	.	0.720025	0.13551	N	0.379484	T	0.09247	0.0228	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17258	-1.0375	10	0.25106	T	0.35	-1.6633	7.8323	0.29349	0.0955:0.2656:0.5507:0.0883	.	842	Q5VUB5	F1711_HUMAN	V	842;841	ENSP00000367356:A842V	ENSP00000367356:A842V	A	-	2	0	FAM171A1	15295068	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	0.315000	0.19451	-2.078000	0.00872	-0.253000	0.11424	GCC		0.617	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		4	158	0	0	0	1	0	4	158				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	51	0	0	0	1	0	3	51				
GANAB	23193	broad.mit.edu	37	11	62401811	62401811	+	Intron	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62401811T>C	ENST00000356638.3	-	5	577				GANAB_ENST00000346178.4_Missense_Mutation_p.I199M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_Intron|GANAB_ENST00000534779.1_Missense_Mutation_p.I85M	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCTTATCCCATATGCTACCAA	0.478																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(595-597)atA>atG		glucosidase, alpha; neutral AB							171.0	176.0	174.0					11																	62401811		1922	4122	6044	SO:0001627	intron_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62401811T>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.560+481A>G	11.37:g.62401811T>C						GANAB_ENST00000356638.3_Intron|GANAB_ENST00000534779.1_Missense_Mutation_p.I85M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_Intron	p.I199M	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			6	612	-			187					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.597A>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579082	0.28180	.	.	ENSG00000089597	ENST00000346178;ENST00000534779;ENST00000525994	D;D;T	0.88431	-2.32;-2.38;1.28	5.39	-9.24	0.00669	.	1.755040	0.02816	N	0.124910	T	0.74023	0.3662	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.44711	-0.9310	10	0.45353	T	0.12	0.0114	7.1233	0.25456	0.192:0.2833:0.0:0.5246	.	85;199	E9PKU7;Q14697-2	.;.	M	199;85;85	ENSP00000340466:I199M;ENSP00000435306:I85M;ENSP00000434805:I85M	ENSP00000340466:I199M	I	-	3	3	GANAB	62158387	0.985000	0.35326	0.683000	0.30040	0.972000	0.66771	0.223000	0.17719	-2.137000	0.00809	-1.063000	0.02288	ATA		0.478	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		36	89	0	0	0	1	0	36	89				
C3orf30	152405	broad.mit.edu	37	3	118865135	118865135	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:118865135C>T	ENST00000295622.1	+	1	139	c.99C>T	c.(97-99)gaC>gaT	p.D33D	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	33										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAGAAGACGACCAGAAGA	0.552																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(97-99)gaC>gaT		chromosome 3 open reading frame 30							84.0	58.0	67.0					3																	118865135		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865135C>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.99C>T	3.37:g.118865135C>T							p.D33D	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	139	+			33					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.99C>T	CCDS2984.1																																																																																				0.552	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		8	12	0	0	0	1	0	8	12				
NLGN1	22871	broad.mit.edu	37	3	173997179	173997179	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:173997179A>G	ENST00000457714.1	+	6	1817	c.1388A>G	c.(1387-1389)cAt>cGt	p.H463R	NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R|NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	480					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTACGGACCATCAGTGGGTG	0.448																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1387-1389)cAt>cGt		neuroligin 1							91.0	88.0	89.0					3																	173997179		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997179A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1388A>G	3.37:g.173997179A>G	ENSP00000392500:p.His463Arg					NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R|NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R	p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1817	+	Ovarian(172;0.0025)		480					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1388A>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929225	0.52759	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.04	6.04	0.98038	.	0.101398	0.64402	D	0.000002	T	0.50786	0.1636	N	0.13098	0.295	0.80722	D	1	P;D	0.55385	0.883;0.971	P;P	0.54270	0.747;0.57	T	0.54970	-0.8213	10	0.48119	T	0.1	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	503;463	D2X2H5;Q8N2Q7-2	.;.	R	463;463;463;503	ENSP00000392500:H463R;ENSP00000354541:H463R;ENSP00000441108:H463R;ENSP00000385750:H503R	ENSP00000354541:H463R	H	+	2	0	NLGN1	175479873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	CAT		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		16	71	0	0	0	1	0	16	71				
DMTN	2039	broad.mit.edu	37	8	21938322	21938322	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:21938322G>A	ENST00000523266.1	+	14	1426	c.964G>A	c.(964-966)Gag>Aag	p.E322K	DMTN_ENST00000443491.2_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.E322K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000265800.5_Missense_Mutation_p.E322K|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000358242.3_Missense_Mutation_p.E322K|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.E282K	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	322					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CCAGAACGGAGAGGGCCAGAG	0.662																																						ENST00000358242.3																			0											c.(964-966)Gag>Aag		dematin actin binding protein							12.0	15.0	14.0					8																	21938322		2146	4171	6317	SO:0001583	missense	2039							g.chr8:21938322G>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.964G>A	8.37:g.21938322G>A	ENSP00000427866:p.Glu322Lys					DMTN_ENST00000523266.1_Missense_Mutation_p.E322K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.E282K|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.E322K|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000265800.5_Missense_Mutation_p.E322K	p.E322K							14	1457	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.964G>A	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194117	0.58017	.	.	ENSG00000158856	ENST00000432128;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000523266	T;T;T;T;T	0.43688	1.54;0.94;1.54;1.54;1.54	3.66	3.66	0.41972	.	0.265230	0.31734	N	0.007153	T	0.34629	0.0904	L	0.53249	1.67	0.80722	D	1	P;B;B	0.38827	0.649;0.363;0.363	B;B;B	0.33042	0.157;0.096;0.041	T	0.37197	-0.9716	10	0.62326	D	0.03	.	10.7031	0.45939	0.0:0.0:1.0:0.0	.	261;282;322	E9PD40;B4DI75;Q08495	.;.;DEMA_HUMAN	K	322;282;282;322;261;322;322	ENSP00000416111:E322K;ENSP00000430618:E282K;ENSP00000265800:E322K;ENSP00000350977:E322K;ENSP00000427866:E322K	ENSP00000265800:E322K	E	+	1	0	EPB49	21994268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.808000	0.75206	1.890000	0.54733	0.305000	0.20034	GAG		0.662	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		10	8	0	0	0	1	0	10	8				
APAF1	317	broad.mit.edu	37	12	99097198	99097198	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr12:99097198A>G	ENST00000551964.1	+	18	3252	c.2516A>G	c.(2515-2517)cAt>cGt	p.H839R	APAF1_ENST00000547045.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.H828R|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	839					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACACGGGCCATCACAGCACC	0.408																																						ENST00000550527.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2482-2484)cAt>cGt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107.0	95.0	99.0					12																	99097198		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99097198A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2516A>G	12.37:g.99097198A>G	ENSP00000448165:p.His839Arg					APAF1_ENST00000357310.1_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.H839R|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Intron	p.H828R			O14727	APAF_HUMAN			17	2490	+			839					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2483A>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.538450	0.27475	.	.	ENSG00000120868	ENST00000551964;ENST00000550527	T;T	0.44881	0.91;0.91	5.93	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.297542	0.43110	N	0.000610	T	0.37758	0.1015	L	0.55213	1.73	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17198	-1.0377	10	0.49607	T	0.09	-6.1162	9.973	0.41765	0.9147:0.0:0.0853:0.0	.	839;828	O14727;O14727-2	APAF_HUMAN;.	R	839;828	ENSP00000448165:H839R;ENSP00000448449:H828R	ENSP00000448449:H828R	H	+	2	0	APAF1	97621329	1.000000	0.71417	0.897000	0.35233	0.932000	0.56968	3.164000	0.50770	1.053000	0.40415	0.533000	0.62120	CAT		0.408	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		25	26	0	0	0	1	0	25	26				
GALNT18	374378	broad.mit.edu	37	11	11400788	11400788	+	Missense_Mutation	SNP	C	C	T	rs139800432		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:11400788C>T	ENST00000227756.4	-	4	1030	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	207	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCCACATATTCGGTCAGCTTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21054	0.0		0.0	False		,,,				2504	0.0					ENST00000227756.4																			0											c.(619-621)Gaa>Aaa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18		C	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	160.0	129.0	139.0		619	3.2	0.0	11	dbSNP_134	139	0,8588		0,0,4294	no	missense	GALNTL4	NM_198516.2	56	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	benign	207/608	11400788	1,12989	2201	4294	6495	SO:0001583	missense	374378							g.chr11:11400788C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.619G>A	11.37:g.11400788C>T	ENSP00000227756:p.Glu207Lys						p.E207K	NM_198516.2	NP_940918.2					4	1030	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.619G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449737	0.12223	2.27E-4	0.0	ENSG00000110328	ENST00000227756	T	0.60299	0.2	5.98	3.15	0.36227	Glycosyl transferase, family 2 (1);	0.459195	0.22753	N	0.056046	T	0.36358	0.0964	N	0.20401	0.57	0.31325	N	0.685512	B	0.02656	0.0	B	0.06405	0.002	T	0.25012	-1.0144	10	0.32370	T	0.25	.	5.3044	0.15795	0.0:0.5702:0.1372:0.2926	.	207	Q6P9A2	GLTL4_HUMAN	K	207	ENSP00000227756:E207K	ENSP00000227756:E207K	E	-	1	0	GALNTL4	11357364	0.764000	0.28473	0.007000	0.13788	0.318000	0.28184	1.668000	0.37481	0.443000	0.26582	-0.346000	0.07831	GAA		0.552	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		5	78	0	0	0	1	0	5	78				
CA9	768	broad.mit.edu	37	9	35676353	35676353	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:35676353G>A	ENST00000378357.4	+	5	911	c.807G>A	c.(805-807)ccG>ccA	p.P269P	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	269	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGGGGCGCCCGGGAGGCCTGG	0.637																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(805-807)ccG>ccA		carbonic anhydrase IX							113.0	118.0	117.0					9																	35676353		2203	4300	6503	SO:0001819	synonymous_variant	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35676353G>A	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.807G>A	9.37:g.35676353G>A						CA9_ENST00000493245.1_Intron	p.P269P	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	911	+	all_epithelial(49;0.217)		269			Catalytic.		Q5T4R1	Silent	SNP	ENST00000378357.4	37	c.807G>A	CCDS6585.1																																																																																				0.637	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		9	210	0	0	0	1	0	9	210				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	20	0	0	0	1	0	4	20				
ZNF132	7691	broad.mit.edu	37	19	58948511	58948511	+	Silent	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58948511T>C	ENST00000254166.3	-	2	535	c.135A>G	c.(133-135)gtA>gtG	p.V45V		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	45	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGGAGAAGTATACAGCCACAT	0.488																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(133-135)gtA>gtG		zinc finger protein 132							111.0	89.0	96.0					19																	58948511		2203	4300	6503	SO:0001819	synonymous_variant	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58948511T>C	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.135A>G	19.37:g.58948511T>C							p.V45V	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	2	535	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	45			KRAB.		Q32MI9	Silent	SNP	ENST00000254166.3	37	c.135A>G	CCDS12980.1																																																																																				0.488	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		3	33	0	0	0	1	0	3	33				
TMPRSS15	5651	broad.mit.edu	37	21	19770581	19770581	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr21:19770581T>A	ENST00000284885.3	-	2	244	c.211A>T	c.(211-213)Aat>Tat	p.N71Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	71	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.N71Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATTAGGATTATATGTAACT	0.358																																						ENST00000284885.3																			1	Substitution - Missense(1)	p.N71Y(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(211-213)Aat>Tat		transmembrane protease, serine 15							78.0	80.0	80.0					21																	19770581		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770581T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.211A>T	21.37:g.19770581T>A	ENSP00000284885:p.Asn71Tyr						p.N71Y	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			2	244	-			71			SEA.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.211A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695120	0.68386	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	SEA (3);	0.191825	0.45867	D	0.000329	T	0.49236	0.1545	L	0.51422	1.61	0.34026	D	0.653213	D	0.57571	0.98	P	0.55112	0.769	T	0.62053	-0.6935	9	.	.	.	.	11.4355	0.50066	0.0:0.0:0.0:1.0	.	71	P98073	ENTK_HUMAN	Y	71;26	ENSP00000284885:N71Y;ENSP00000398253:N26Y	.	N	-	1	0	TMPRSS15	18692452	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.513000	0.60476	2.203000	0.70933	0.523000	0.50628	AAT		0.358	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		58	27	0	0	0	1	0	58	27				
ZFYVE19	84936	broad.mit.edu	37	15	41105573	41105573	+	Silent	SNP	C	C	T	rs557912109		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:41105573C>T	ENST00000355341.4	+	8	1569	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ZFYVE19_ENST00000299173.10_Silent_p.D288D|ZFYVE19_ENST00000564258.1_Silent_p.D181D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	356					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGATGACGACGAGGATG	0.587																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(1066-1068)gaC>gaT		zinc finger, FYVE domain containing 19							51.0	57.0	55.0					15																	41105573		2081	4214	6295	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41105573C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1068C>T	15.37:g.41105573C>T						ZFYVE19_ENST00000564258.1_Silent_p.D181D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D|ZFYVE19_ENST00000299173.10_Silent_p.D288D	p.D356D	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	8	1569	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	356					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.1068C>T	CCDS42025.1																																																																																				0.587	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		6	9	0	0	0	1	0	6	9				
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1552-1554)gCc>gTc		gliomedin							145.0	141.0	142.0					15																	51696848		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696848C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1553C>T	15.37:g.51696848C>T	ENSP00000335196:p.Ala518Val					GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	p.A518V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1609	+			518			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1553C>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		4	161	0	0	0	1	0	4	161				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	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		5	20	0	0	0	1	0	5	20				
DNER	92737	broad.mit.edu	37	2	230453157	230453157	+	Silent	SNP	C	C	T	rs200771367		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:230453157C>T	ENST00000341772.4	-	3	767	c.633G>A	c.(631-633)gcG>gcA	p.A211A	DNER_ENST00000482831.1_5'Flank	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	211					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCGGCCACCCGCAGAGCTGT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		17335	0.001		0.0	False		,,,				2504	0.0					ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(631-633)gcG>gcA		delta/notch-like EGF repeat containing							78.0	80.0	80.0					2																	230453157		2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230453157C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.633G>A	2.37:g.230453157C>T							p.A211A	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	3	767	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	211					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.633G>A	CCDS33390.1																																																																																				0.428	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		16	28	0	0	0	1	0	16	28				
SIRT1	23411	broad.mit.edu	37	10	69669183	69669183	+	Silent	SNP	A	A	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:69669183A>G	ENST00000212015.6	+	7	1394	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P	SIRT1_ENST00000432464.1_Silent_p.P152P|SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000406900.1_Silent_p.P144P	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	447	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAGTAAGACCAGTAGCACTAA	0.368																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1339-1341)ccA>ccG		sirtuin 1							82.0	77.0	78.0					10																	69669183		2203	4300	6503	SO:0001819	synonymous_variant	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69669183A>G	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1341A>G	10.37:g.69669183A>G						SIRT1_ENST00000406900.1_Silent_p.P144P|SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000432464.1_Silent_p.P152P	p.P447P	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			7	1394	+			447			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Silent	SNP	ENST00000212015.6	37	c.1341A>G	CCDS7273.1																																																																																				0.368	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			20	29	0	0	0	1	0	20	29				
RDH12	145226	broad.mit.edu	37	14	68192802	68192802	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:68192802G>A	ENST00000551171.1	+	6	702	c.378G>A	c.(376-378)gcG>gcA	p.A126A	RDH12_ENST00000539142.1_Silent_p.A126A|RDH12_ENST00000267502.3_Silent_p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	126			A -> V (in RP53). {ECO:0000269|PubMed:19140180}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TCAACAATGCGGGAGTAATGA	0.463																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(376-378)gcG>gcA		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						191.0	182.0	185.0					14																	68192802		2203	4300	6503	SO:0001819	synonymous_variant	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68192802G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.378G>A	14.37:g.68192802G>A						RDH12_ENST00000267502.3_Silent_p.A126A|RDH12_ENST00000539142.1_Silent_p.A126A	p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	6	702	+			126		A -> V (in RP53).			B2RDA2|Q8TAW6	Silent	SNP	ENST00000551171.1	37	c.378G>A	CCDS9787.1																																																																																				0.463	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			5	167	0	0	0	1	0	5	167				
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	rs144467940	byFrequency	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													N|||	6	0.00119808	0.0	0.0	5008	,	,		22333	0.0		0.006	False		,,,				2504	0.0					ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(457-459)aCg>aTg		olfactory receptor, family 5, subfamily L, member 1							217.0	181.0	193.0					11																	55579400		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579400C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.458C>T	11.37:g.55579400C>T	ENSP00000335529:p.Thr153Met						p.T153M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	547	+		all_epithelial(135;0.208)	153					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.458C>T	CCDS31509.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	OR5L1	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		109	103	0	0	0	1	0	109	103				
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37.0	41.0	39.0					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	50	0	0	0	1	0	3	50				
SPRY4	81848	broad.mit.edu	37	5	141693866	141693866	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr5:141693866G>A	ENST00000434127.2	-	2	1051	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SPRY4_ENST00000344120.4_Missense_Mutation_p.R293C|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	270	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAGGGCGGCGCAGACGG	0.642									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(877-879)Cgc>Tgc		sprouty homolog 4 (Drosophila)							46.0	44.0	45.0					5																	141693866		2203	4300	6503	SO:0001583	missense	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141693866G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.808C>T	5.37:g.141693866G>A	ENSP00000399468:p.Arg270Cys					SPRY4_ENST00000434127.2_Missense_Mutation_p.R270C	p.R293C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1063	-		all_hematologic(541;0.118)	270					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.877C>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830554	0.71258	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	T;T	0.70516	-0.49;-0.46	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86891	0.2048	10	0.87932	D	0	-33.3132	13.5702	0.61843	0.0:0.0:0.8447:0.1553	.	270	Q9C004	SPY4_HUMAN	C	293;270	ENSP00000344967:R293C;ENSP00000399468:R270C	ENSP00000344967:R293C	R	-	1	0	SPRY4	141674050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.759000	0.68785	2.604000	0.88044	0.655000	0.94253	CGC		0.642	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			6	42	0	0	0	1	0	6	42				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	155	0	0	0	1	0	4	155				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			24	35	0	0	0	1	0	24	35				
CXXC1	30827	broad.mit.edu	37	18	47810101	47810101	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:47810101G>A	ENST00000285106.6	-	11	2212	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	500					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCATGTGGCGCAAGGCAACA	0.577																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1498-1500)Cgc>Tgc		CXXC finger protein 1							106.0	90.0	95.0					18																	47810101		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810101G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1498C>T	18.37:g.47810101G>A	ENSP00000285106:p.Arg500Cys					CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C	p.R500C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			11	2212	-			500					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1498C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513283	0.64522	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.28255	1.62;1.62	4.65	3.71	0.42584	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.986	T	0.51973	-0.8637	10	0.87932	D	0	-17.9298	12.5177	0.56042	0.0:0.0:0.8333:0.1667	.	504;500;367	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	C	500;504	ENSP00000285106:R500C;ENSP00000390475:R504C	ENSP00000285106:R500C	R	-	1	0	CXXC1	46064099	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.601000	0.46249	2.290000	0.77057	0.467000	0.42956	CGC		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		28	37	0	0	0	1	0	28	37				
MAP2K7	5609	broad.mit.edu	37	19	7975888	7975888	+	Silent	SNP	G	G	A			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:7975888G>A	ENST00000397979.3	+	7	753	c.699G>A	c.(697-699)ctG>ctA	p.L233L	MAP2K7_ENST00000545011.1_Silent_p.L275L|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGTACTACCTGAAGGAGAAGC	0.652																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(823-825)ctG>ctA		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						40.0	44.0	43.0					19																	7975888		2117	4235	6352	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975888G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.699G>A	19.37:g.7975888G>A						MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L|MAP2K7_ENST00000397979.3_Silent_p.L233L	p.L275L			O14733	MP2K7_HUMAN			7	890	+			233			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.825G>A	CCDS42491.1																																																																																				0.652	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			12	35	0	0	0	1	0	12	35				
PROM2	150696	broad.mit.edu	37	2	95940490	95940490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:95940490C>T	ENST00000317620.9	+	1	290	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	53					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGGCCCCTCGAGTTCGTGC	0.657																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(157-159)Cga>Tga		prominin 2							69.0	80.0	76.0					2																	95940490		2203	4300	6503	SO:0001587	stop_gained	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95940490C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.157C>T	2.37:g.95940490C>T	ENSP00000318270:p.Arg53*					PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*	p.R53*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			1	290	+			53					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Nonsense_Mutation	SNP	ENST00000317620.9	37	c.157C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038656	0.93630	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	.	.	.	5.01	5.01	0.66863	.	0.459582	0.19002	N	0.125326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.1967	13.8035	0.63216	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000318270:R53X	R	+	1	2	PROM2	95304217	0.118000	0.22208	0.926000	0.36857	0.572000	0.35998	2.798000	0.47884	2.339000	0.79563	0.491000	0.48974	CGA		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		6	150	0	0	0	1	0	6	150				
F10	2159	broad.mit.edu	37	13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	rs201675411		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ATGAACGTGGCGCCTGCCTGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15189	0.0		0.0	False		,,,				2504	0.0					ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1015-1017)gCg>gTg		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						121.0	94.0	103.0					13																	113803380		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803380C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1016C>T	13.37:g.113803380C>T	ENSP00000364709:p.Ala339Val					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.A339V	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1054	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	339			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1016C>T	CCDS9530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.062	-1.221331	0.01530	.	.	ENSG00000126218	ENST00000375559	D	0.89050	-2.46	5.25	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.398760	0.25903	N	0.027551	T	0.66015	0.2747	N	0.10760	0.04	0.09310	N	1	P	0.37015	0.578	B	0.29598	0.104	T	0.64462	-0.6402	10	0.02654	T	1	.	3.4406	0.07462	0.0:0.4945:0.1999:0.3056	.	339	P00742	FA10_HUMAN	V	339	ENSP00000364709:A339V	ENSP00000364709:A339V	A	+	2	0	F10	112851381	0.226000	0.23696	0.813000	0.32504	0.000000	0.00434	3.712000	0.54875	1.215000	0.43411	-0.251000	0.11542	GCG		0.637	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			5	111	0	0	0	1	0	5	111				
CACNA2D1	781	broad.mit.edu	37	7	81964495	81964495	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr7:81964495T>C	ENST00000356253.5	-	3	505	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R84G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	84					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAATATCCCTGGCTGCAATT	0.333																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(250-252)Agg>Ggg		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						187.0	195.0	192.0					7																	81964495		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81964495T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.250A>G	7.37:g.81964495T>C	ENSP00000348589:p.Arg84Gly					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R84G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G	p.R84G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			3	588	-			84					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.250A>G		.	.	.	.	.	.	.	.	.	.	T	10.05	1.243150	0.22796	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.22539	3.26;3.27;1.95	5.8	3.4	0.38934	.	0.062472	0.64402	N	0.000010	T	0.11367	0.0277	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16276	-1.0408	10	0.15066	T	0.55	-7.5107	8.0659	0.30661	0.0:0.0665:0.2544:0.6791	.	84	P54289-2	.	G	84	ENSP00000349320:R84G;ENSP00000348589:R84G;ENSP00000405395:R84G	ENSP00000284088:R84G	R	-	1	2	CACNA2D1	81802431	0.998000	0.40836	0.984000	0.44739	0.997000	0.91878	0.637000	0.24659	0.440000	0.26502	0.528000	0.53228	AGG		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	352	0	0	0	1	0	6	352				
SERPINB13	5275	broad.mit.edu	37	18	61262359	61262359	+	Missense_Mutation	SNP	A	A	G	rs374164881		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:61262359A>G	ENST00000344731.5	+	7	814	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	238					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GATTCCATATAAAAACAACGA	0.433																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(712-714)Aaa>Gaa		serpin peptidase inhibitor, clade B (ovalbumin), member 13		A	GLU/LYS	0,4406		0,0,2203	134.0	127.0	129.0		712	4.7	0.9	18		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	56	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	238/392	61262359	1,13005	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61262359A>G	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.712A>G	18.37:g.61262359A>G	ENSP00000341584:p.Lys238Glu					SERPINB13_ENST00000269489.5_Intron	p.K238E	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			7	814	+			238					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.712A>G	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386286	0.42308	0.0	1.16E-4	ENSG00000197641	ENST00000539341;ENST00000344731;ENST00000415733	D;D	0.84370	-1.84;-1.84	5.82	4.65	0.58169	Serpin domain (3);	0.233346	0.30989	N	0.008473	D	0.82737	0.5102	L	0.41961	1.31	0.30593	N	0.761337	D;P;D	0.56746	0.961;0.463;0.977	P;B;P	0.59012	0.85;0.054;0.766	T	0.75491	-0.3299	10	0.07325	T	0.83	.	4.6946	0.12797	0.661:0.1878:0.1513:0.0	.	247;156;238	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	E	156;238;87	ENSP00000341584:K238E;ENSP00000391156:K87E	ENSP00000341584:K238E	K	+	1	0	SERPINB13	59413339	0.000000	0.05858	0.892000	0.35008	0.993000	0.82548	0.977000	0.29475	0.998000	0.38996	0.533000	0.62120	AAA		0.433	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		22	84	0	0	0	1	0	22	84				
FAM129A	116496	broad.mit.edu	37	1	184853821	184853821	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:184853821C>G	ENST00000367511.3	-	5	740	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	183					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCTTCTGGTCAGCAGCCTCG	0.597																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(547-549)Gac>Cac		family with sequence similarity 129, member A							92.0	83.0	86.0					1																	184853821		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184853821C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.547G>C	1.37:g.184853821C>G	ENSP00000356481:p.Asp183His						p.D183H	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			5	740	-			183					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.547G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044592	0.55110	.	.	ENSG00000135842	ENST00000367511	T	0.20463	2.07	5.63	5.63	0.86233	.	0.682708	0.15734	N	0.247286	T	0.28797	0.0714	N	0.22421	0.69	0.09310	N	1	D	0.53151	0.958	P	0.56474	0.799	T	0.11941	-1.0567	10	0.66056	D	0.02	-2.613	15.1818	0.72965	0.0:1.0:0.0:0.0	.	183	Q9BZQ8	NIBAN_HUMAN	H	183	ENSP00000356481:D183H	ENSP00000356481:D183H	D	-	1	0	FAM129A	183120444	0.005000	0.15991	0.034000	0.17996	0.543000	0.35085	1.964000	0.40462	2.653000	0.90120	0.650000	0.86243	GAC		0.597	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			17	30	0	0	0	1	0	17	30				
ST13	6767	broad.mit.edu	37	22	41223196	41223196	+	Silent	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr22:41223196T>C	ENST00000216218.3	-	11	1366	c.885A>G	c.(883-885)ggA>ggG	p.G295G		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	295	Gly/Met/Pro-rich.				chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGGCATTCCTCCGGGAAAAT	0.458																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(883-885)ggA>ggG		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							53.0	57.0	55.0					22																	41223196		2203	4298	6501	SO:0001819	synonymous_variant	6767						protein binding, bridging	g.chr22:41223196T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.885A>G	22.37:g.41223196T>C							p.G295G	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			11	1366	-			295			Gly/Met/Pro-rich.		O14999|Q2TU77	Silent	SNP	ENST00000216218.3	37	c.885A>G	CCDS14006.1																																																																																				0.458	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		24	39	0	0	0	1	0	24	39				
WDHD1	11169	broad.mit.edu	37	14	55467292	55467292	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:55467292T>C	ENST00000360586.3	-	10	936	c.871A>G	c.(871-873)Act>Gct	p.T291A	WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A|WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	291					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCCGCATCAGTATACGATATT	0.393																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(871-873)Act>Gct		WD repeat and HMG-box DNA binding protein 1							150.0	140.0	143.0					14																	55467292		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55467292T>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.871A>G	14.37:g.55467292T>C	ENSP00000353793:p.Thr291Ala					WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A|WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A	p.T291A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			10	936	-			291					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.871A>G	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149216	0.57151	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.63744	5.24;-0.06	4.98	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.62723	1.935	0.80722	D	1	P	0.49635	0.926	P	0.59424	0.857	T	0.66500	-0.5908	10	0.08179	T	0.78	.	14.8359	0.70183	0.0:0.0:0.0:1.0	.	291	O75717	WDHD1_HUMAN	A	291;168	ENSP00000353793:T291A;ENSP00000391049:T168A	ENSP00000353793:T291A	T	-	1	0	WDHD1	54537042	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	5.239000	0.65371	2.101000	0.63845	0.528000	0.53228	ACT		0.393	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		3	70	0	0	0	1	0	3	70				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	220	0	0	0	1	0	4	220				
THBS1	7057	broad.mit.edu	37	15	39885372	39885372	+	Missense_Mutation	SNP	G	G	A	rs201957578		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:39885372G>A	ENST00000260356.5	+	18	3104	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	980	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGGGTTGTACGCCATCAGGGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20799	0.001		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2938-2940)cGc>cAc		thrombospondin 1	Becaplermin(DB00102)						71.0	63.0	65.0					15																	39885372		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885372G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2939G>A	15.37:g.39885372G>A	ENSP00000260356:p.Arg980His						p.R980H	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	18	3104	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	980			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2939G>A	CCDS32194.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.4	5.001539	0.93227	.	.	ENSG00000137801	ENST00000260356	D	0.95272	-3.66	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36665	N	0.002479	D	0.95822	0.8640	L	0.39245	1.2	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94311	0.7545	10	0.28530	T	0.3	-28.2234	19.757	0.96298	0.0:0.0:1.0:0.0	.	895;980	B4E3J7;P07996	.;TSP1_HUMAN	H	980	ENSP00000260356:R980H	ENSP00000260356:R980H	R	+	2	0	THBS1	37672664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.667000	0.90743	0.655000	0.94253	CGC		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		23	33	0	0	0	1	0	23	33				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	13	1	0	0.004672	1	0.004672	3	13				
OR5T1	390155	broad.mit.edu	37	11	56043676	56043676	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:56043676C>T	ENST00000313033.2	+	1	648	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H188D(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)					TGAAATTAGGCATGTCTTTTG	0.408																																						ENST00000313033.2																			1	Substitution - Missense(1)	p.H188D(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(562-564)Cat>Tat		olfactory receptor, family 5, subfamily T, member 1							247.0	230.0	236.0					11																	56043676		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043676C>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.562C>T	11.37:g.56043676C>T	ENSP00000323612:p.His188Tyr						p.H188Y	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	648	+	Esophageal squamous(21;0.00448)		188					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.562C>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488439	0.44249	.	.	ENSG00000181698	ENST00000313033	T	0.00183	8.6	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.00412	0.0013	M	0.86097	2.795	0.09310	N	1	B	0.31989	0.35	B	0.44163	0.443	T	0.05037	-1.0910	10	0.72032	D	0.01	.	14.0573	0.64776	0.0:1.0:0.0:0.0	.	188	Q8NG75	OR5T1_HUMAN	Y	188	ENSP00000323612:H188Y	ENSP00000323612:H188Y	H	+	1	0	OR5T1	55800252	0.962000	0.33011	0.031000	0.17742	0.099000	0.18886	2.611000	0.46334	1.943000	0.56356	0.465000	0.42564	CAT		0.408	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		46	198	0	0	0	1	0	46	198				
BRD3	8019	broad.mit.edu	37	9	136915518	136915518	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:136915518G>C	ENST00000303407.7	-	5	877	c.692C>G	c.(691-693)cCt>cGt	p.P231R	BRD3_ENST00000357885.2_Missense_Mutation_p.P231R|BRD3_ENST00000371834.2_Missense_Mutation_p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	231					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGGCGTAGGAGGGACCACGGG	0.687			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(691-693)cCt>cGt		bromodomain containing 3							58.0	60.0	59.0					9																	136915518		2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915518G>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.692C>G	9.37:g.136915518G>C	ENSP00000305918:p.Pro231Arg					BRD3_ENST00000357885.2_Missense_Mutation_p.P231R|BRD3_ENST00000371834.2_Missense_Mutation_p.P231R	p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	877	-			231					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.692C>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122011	0.56613	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.41400	1.0;1.0;1.0	4.88	4.88	0.63580	.	0.075809	0.53938	D	0.000048	T	0.67011	0.2848	M	0.79805	2.47	0.80722	D	1	P;D	0.71674	0.939;0.998	P;D	0.76071	0.725;0.987	T	0.71290	-0.4637	10	0.56958	D	0.05	-15.1902	17.3626	0.87355	0.0:0.0:1.0:0.0	.	231;231	Q15059-2;Q15059	.;BRD3_HUMAN	R	231	ENSP00000305918:P231R;ENSP00000360900:P231R;ENSP00000350557:P231R	ENSP00000305918:P231R	P	-	2	0	BRD3	135905339	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	7.622000	0.83099	2.404000	0.81709	0.491000	0.48974	CCT		0.687	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		5	44	0	0	0	1	0	5	44				
USP7	7874	broad.mit.edu	37	16	8988966	8988966	+	Silent	SNP	C	C	T			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:8988966C>T	ENST00000344836.4	-	28	3159	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	USP7_ENST00000381886.4_Silent_p.E971E|USP7_ENST00000535863.1_Silent_p.E888E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	987					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGACAAGCATCTCATTCTCTT	0.498																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2959-2961)gaG>gaA		ubiquitin specific peptidase 7 (herpes virus-associated)							251.0	236.0	241.0					16																	8988966		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988966C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2961G>A	16.37:g.8988966C>T						USP7_ENST00000381886.4_Silent_p.E971E|USP7_ENST00000535863.1_Silent_p.E888E	p.E987E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			28	3159	-			987					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2961G>A	CCDS32385.1																																																																																				0.498	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			8	221	0	0	0	1	0	8	221				
PIAS3	10401	broad.mit.edu	37	1	145584147	145584147	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145584147T>C	ENST00000393045.2	+	11	1388	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	433					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAGCCCAGTCCAGGGGGGA	0.498																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1297-1299)gTc>gCc		protein inhibitor of activated STAT, 3							125.0	137.0	133.0					1																	145584147		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584147T>C	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1298T>C	1.37:g.145584147T>C	ENSP00000376765:p.Val433Ala					PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	p.V433A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1388	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		433					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1298T>C	CCDS920.2	.	.	.	.	.	.	.	.	.	.	T	6.512	0.462712	0.12402	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.33438	1.42;1.41	5.65	4.51	0.55191	.	0.343474	0.24152	N	0.041079	T	0.04952	0.0133	N	0.11560	0.145	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.24512	-1.0158	10	0.05620	T	0.96	-13.2763	9.1073	0.36705	0.0:0.0:0.1992:0.8008	.	433	Q9Y6X2	PIAS3_HUMAN	A	433;398	ENSP00000376765:V433A;ENSP00000358304:V398A	ENSP00000358304:V398A	V	+	2	0	PIAS3	144295504	0.001000	0.12720	1.000000	0.80357	0.967000	0.64934	0.050000	0.14120	2.371000	0.80710	0.533000	0.62120	GTC		0.498	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		5	218	0	0	0	1	0	5	218				
ATG4B	23192	broad.mit.edu	37	2	242594751	242594755	+	Frame_Shift_Del	DEL	GTCCT	GTCCT	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:242594751_242594755delGTCCT	ENST00000404914.3	+	6	554_558	c.451_455delGTCCT	c.(451-456)gtcctgfs	p.VL151fs	ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000405546.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	151					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCGCCCAGGTCCTGAAGTATGTA	0.546																																					Melanoma(78;458 1323 6342 12171 39523)	ENST00000405546.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(451-456)gfs		autophagy related 4B, cysteine peptidase																																				SO:0001589	frameshift_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242594751_242594755delGTCCT	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.451_455delGTCCT	2.37:g.242594751_242594755delGTCCT	ENSP00000384259:p.Val151fs					ATG4B_ENST00000404914.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs	p.VL151fs			Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	6	953_957	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	151					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Frame_Shift_Del	DEL	ENST00000404914.3	37	c.451_455delGTCCT	CCDS46564.1																																																																																				0.546	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		4	9						4	9	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		9	170						9	170	---	---	---	---
CBL	867	broad.mit.edu	37	11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)cacdel	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(106-108)del		Cbl proto-oncogene, E3 ubiquitin protein ligase				27,80,3153		5,0,17,5,70,1533						-0.3	1.0			11	13,198,6595		2,0,9,20,158,3214	no	codingComplex	CBL	NM_005188.2		7,0,26,25,228,4747	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1002,3.2822,3.1591				40,278,9748				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119077233_119077235delCAC	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.106_108delCAC	11.37:g.119077242_119077244delCAC	ENSP00000264033:p.His42del						p.H42del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	1	482_484	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	42					A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.106_108delCAC	CCDS8418.1																																																																																				0.675	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		2	4						2	4	---	---	---	---
LOC100289656	100289656	broad.mit.edu	37	15	29033936	29033937	+	RNA	INS	-	-	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:29033936_29033937insG	ENST00000430589.1	+	0	293_294				RP11-578F21.12_ENST00000562423.1_RNA	NR_036475.2																						TGCAGGGGCGCGGGGGGGAGGG	0.708																																						ENST00000430589.1																			0																																																			0							g.chr15:29033936_29033937insG																													15.37:g.29033943_29033943dupG								NR_036475.2						0	293_294	+									RNA	INS	ENST00000430589.1	37																																																																																						0.708	RP11-578F21.10-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431786.1			2	4						2	4	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000545171.1_In_Frame_Del_p.K238del|UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		7	299						7	299	---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45211437	45211437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:45211437delG	ENST00000405314.2	+	5	1342	c.1245delG	c.(1243-1245)ctgfs	p.L415fs	CEACAM16_ENST00000587331.1_Frame_Shift_Del_p.L415fs|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	415					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTGAGACACTGGAAGTGGAGC	0.582																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1243-1245)ctfs		carcinoembryonic antigen-related cell adhesion molecule 16							30.0	29.0	29.0					19																	45211437		2118	4227	6345	SO:0001589	frameshift_variant	388551							g.chr19:45211437delG		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1245delG	19.37:g.45211437delG	ENSP00000385576:p.Leu415fs					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Frame_Shift_Del_p.L415fs	p.L415fs	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1460	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	415					A7LI12	Frame_Shift_Del	DEL	ENST00000405314.2	37	c.1245delG	CCDS54278.1																																																																																				0.582	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		2	4						2	4	---	---	---	---
AMELY	266	broad.mit.edu	37	Y	6736157	6736158	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chrY:6736157_6736158insG	ENST00000383036.1	-	5	534_535	c.535_536insC	c.(535-537)ctgfs	p.L179fs	AMELY_ENST00000215479.5_Frame_Shift_Ins_p.L165fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.L179fs			Q99218	AMELY_HUMAN	amelogenin, Y-linked	179					biomineral tissue development (GO:0031214)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	structural constituent of tooth enamel (GO:0030345)			NS(1)|lung(5)	6						CAGGGGCCGCAGGGGGAACATT	0.619																																						ENST00000215479.5																			0				NS(1)|lung(5)	6						c.(493-495)gcgfs		amelogenin, Y-linked																																				SO:0001589	frameshift_variant	266				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chrY:6736157_6736158insG	M86933	CCDS14778.1	Yp11.2	2004-12-07	2003-09-12		ENSG00000099721	ENSG00000099721			462	protein-coding gene	gene with protein product		410000	"""amelogenin (Y chromosome)"""	AMGL		2004775	Standard	NM_001143		Approved		uc004fqz.3	Q99218	OTTHUMG00000035297	ENST00000383036.1:c.536dupC	Y.37:g.6736162_6736162dupG	ENSP00000372505:p.Leu179fs					AMELY_ENST00000383036.1_Frame_Shift_Ins_p.A179fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.A179fs	p.A165fs	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN			5	560_561	-			179			Gln-rich.		Q6RWT1	Frame_Shift_Ins	INS	ENST00000383036.1	37	c.493_494insC	CCDS14778.1																																																																																				0.619	AMELY-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000100214.1	NM_001143		5	2						5	2	---	---	---	---
