#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
RFTN1	23180	broad.mit.edu	37	3	16411644	16411644	+	Silent	SNP	G	G	A	rs376991783		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:16411644G>A	ENST00000334133.4	-	6	1241	c.969C>T	c.(967-969)agC>agT	p.S323S	RFTN1_ENST00000432519.1_Silent_p.S287S|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	323					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGGTCGCTCATGTGCT	0.517																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(967-969)agC>agT		raftlin, lipid raft linker 1		G		0,4406		0,0,2203	200.0	182.0	188.0		969	-7.2	0.9	3		188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RFTN1	NM_015150.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		323/579	16411644	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16411644G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.969C>T	3.37:g.16411644G>A						RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.S287S	p.S323S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			6	1241	-			323					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.969C>T	CCDS33712.1																																																																																				0.517	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		4	182	0	0	0	1	0	4	182				
LAMA1	284217	broad.mit.edu	37	18	6982553	6982553	+	Missense_Mutation	SNP	C	C	T	rs375358860		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr18:6982553C>T	ENST00000389658.3	-	41	5926	c.5833G>A	c.(5833-5835)Gtg>Atg	p.V1945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1945	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGCGCTGCACGGCCGCTTTC	0.552																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5833-5835)Gtg>Atg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	MET/VAL	0,4406		0,0,2203	156.0	150.0	152.0		5833	0.5	0.2	18		152	2,8598	2.2+/-6.3	0,2,4298	no	missense	LAMA1	NM_005559.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1945/3076	6982553	2,13004	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6982553C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5833G>A	18.37:g.6982553C>T	ENSP00000374309:p.Val1945Met						p.V1945M	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			41	5926	-		Colorectal(10;0.172)	1945			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5833G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	5.266	0.234560	0.09969	0.0	2.33E-4	ENSG00000101680	ENST00000389658	T	0.17213	2.29	5.47	0.47	0.16747	.	0.175992	0.37761	N	0.001952	T	0.05318	0.0141	N	0.02011	-0.69	0.19300	N	0.999975	B	0.14012	0.009	B	0.09377	0.004	T	0.32481	-0.9905	10	0.41790	T	0.15	.	6.4267	0.21773	0.0684:0.3729:0.4342:0.1245	.	1945	P25391	LAMA1_HUMAN	M	1945	ENSP00000374309:V1945M	ENSP00000374309:V1945M	V	-	1	0	LAMA1	6972553	0.007000	0.16637	0.200000	0.23457	0.007000	0.05969	-0.146000	0.10250	-0.132000	0.11557	-0.823000	0.03104	GTG		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		39	260	0	0	0	1	0	39	260				
FASN	2194	broad.mit.edu	37	17	80051476	80051476	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:80051476C>T	ENST00000306749.2	-	4	670	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	151	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGACCCACCTCTGAAGTCGAA	0.647																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(451-453)aGa>aAa		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						42.0	47.0	45.0					17																	80051476		2199	4297	6496	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80051476C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.452G>A	17.37:g.80051476C>T	ENSP00000304592:p.Arg151Lys						p.R151K	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		4	670	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		151			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.452G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	2.631	-0.286438	0.05605	.	.	ENSG00000169710	ENST00000306749	T	0.26660	1.72	4.62	0.668	0.17912	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.336111	0.26029	N	0.026779	T	0.07638	0.0192	N	0.04275	-0.24	0.20926	N	0.999827	B	0.02656	0.0	B	0.04013	0.001	T	0.37337	-0.9710	10	0.02654	T	1	-44.5264	5.0953	0.14729	0.0:0.2754:0.1444:0.5802	.	151	P49327	FAS_HUMAN	K	151	ENSP00000304592:R151K	ENSP00000304592:R151K	R	-	2	0	FASN	77644765	0.678000	0.27586	0.976000	0.42696	0.831000	0.47069	-0.136000	0.10405	-0.180000	0.10637	-1.267000	0.01435	AGA		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		15	83	0	0	0	1	0	15	83				
SCN11A	11280	broad.mit.edu	37	3	38941399	38941399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:38941399G>A	ENST00000302328.3	-	13	2206	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	SCN11A_ENST00000450244.1_Missense_Mutation_p.R670C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R670C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R670C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	670					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAAGGAACGCAAGAATGGC	0.413																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2008-2010)Cgt>Tgt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						84.0	79.0	81.0					3																	38941399		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38941399G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2008C>T	3.37:g.38941399G>A	ENSP00000307599:p.Arg670Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.R670C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R670C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R670C	p.R670C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	13	2206	-			670					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2008C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578081	0.86645	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.65	4.76	0.60689	Ion transport (1);	0.302038	0.38058	N	0.001838	D	0.99227	0.9731	H	0.97440	4.005	0.23238	N	0.998067	D	0.89917	1.0	P	0.60345	0.873	D	0.96901	0.9660	10	0.87932	D	0	.	8.4278	0.32739	0.1093:0.1563:0.7344:0.0	.	670	Q9UI33	SCNBA_HUMAN	C	670	ENSP00000307599:R670C;ENSP00000400945:R670C;ENSP00000416757:R670C;ENSP00000408028:R670C	ENSP00000307599:R670C	R	-	1	0	SCN11A	38916403	0.187000	0.23238	0.008000	0.14137	0.914000	0.54420	2.591000	0.46163	1.484000	0.48361	0.650000	0.86243	CGT		0.413	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		7	39	0	0	0	1	0	7	39				
PCLO	27445	broad.mit.edu	37	7	82544169	82544169	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:82544169G>T	ENST00000333891.9	-	7	13470	c.13133C>A	c.(13132-13134)gCt>gAt	p.A4378D	PCLO_ENST00000423517.2_Missense_Mutation_p.A4378D|PCLO_ENST00000437081.1_Missense_Mutation_p.A1098D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGGGTCCAGCTGCAGCCCT	0.512																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13132-13134)gCt>gAt		piccolo presynaptic cytomatrix protein							77.0	81.0	80.0					7																	82544169		1995	4170	6165	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544169G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13133C>A	7.37:g.82544169G>T	ENSP00000334319:p.Ala4378Asp					PCLO_ENST00000333891.8_Missense_Mutation_p.A4378D|PCLO_ENST00000437081.1_Missense_Mutation_p.A1098D	p.A4378D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13470	-			4309						Missense_Mutation	SNP	ENST00000333891.9	37	c.13133C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839855	0.71488	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.20200	2.1;2.09	5.75	5.75	0.90469	.	.	.	.	.	T	0.48642	0.1511	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.42965	-0.9420	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4309;4378;4378	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	D	4378;4378;1098	ENSP00000334319:A4378D;ENSP00000388393:A4378D	ENSP00000334319:A4378D	A	-	2	0	PCLO	82382105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.903000	0.87398	2.725000	0.93324	0.655000	0.94253	GCT		0.512	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	50	1	0	0.0692343	1	0.0703979	11	50				
KRTAP3-3	85293	broad.mit.edu	37	17	39150381	39150381	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:39150381G>C	ENST00000391586.1	-	0	4					NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3							keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				TTATGGGTTTGATTGAAAAGA	0.522																																						ENST00000391586.1																			0				lung(2)|prostate(2)	4								keratin associated protein 3-3							52.0	57.0	55.0					17																	39150381		2203	4296	6499			85293					keratin filament	structural molecule activity	g.chr17:39150381G>C	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.-32C>G	17.37:g.39150381G>C								NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN			0	4	-		Breast(137;0.00043)						Q52LP0|Q6NTD4	Translation_Start_Site	SNP	ENST00000391586.1	37		CCDS32643.1																																																																																				0.522	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			15	80	0	0	0	1	0	15	80				
GPR52	9293	broad.mit.edu	37	1	174417676	174417676	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:174417676A>G	ENST00000367685.2	+	1	465	c.427A>G	c.(427-429)Ata>Gta	p.I143V	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTATCTTGCAATAACCAAGCC	0.408																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(427-429)Ata>Gta		G protein-coupled receptor 52							197.0	194.0	195.0					1																	174417676		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417676A>G	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.427A>G	1.37:g.174417676A>G	ENSP00000356658:p.Ile143Val					RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	p.I143V	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	465	+			143					O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.427A>G	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773764	0.49786	.	.	ENSG00000203737	ENST00000367685	T	0.76709	-1.04	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.81898	0.4920	L	0.44542	1.39	0.37017	D	0.895992	P	0.49447	0.924	P	0.57468	0.821	D	0.83917	0.0299	10	0.41790	T	0.15	-13.4237	16.3322	0.83039	1.0:0.0:0.0:0.0	.	143	Q9Y2T5	GPR52_HUMAN	V	143	ENSP00000356658:I143V	ENSP00000356658:I143V	I	+	1	0	GPR52	172684299	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.930000	0.92872	2.251000	0.74343	0.528000	0.53228	ATA		0.408	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		22	201	0	0	0	1	0	22	201				
FAT1	2195	broad.mit.edu	37	4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C	rs199995119		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10117-10119)tCa>tGa		FAT atypical cadherin 1							126.0	120.0	122.0					4																	187530425		1936	4138	6074	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530425G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10118C>G	4.37:g.187530425G>C	ENSP00000406229:p.Ser3373*	HNSCC(5;0.00058)					p.S3373*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10327	-			3373			Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10118C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	51	18.035670	0.99898	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.35	5.35	0.76521	.	0.128026	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.0611	0.93093	0.0:0.0:1.0:0.0	.	.	.	.	X	3373;3375	.	ENSP00000260147:S3375X	S	-	2	0	FAT1	187767419	1.000000	0.71417	0.806000	0.32338	0.247000	0.25773	7.954000	0.87848	2.510000	0.84645	0.655000	0.94253	TCA		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	31	0	0	0	1	0	6	31				
PEPD	5184	broad.mit.edu	37	19	33892728	33892728	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:33892728G>T	ENST00000244137.7	-	12	899	c.866C>A	c.(865-867)aCc>aAc	p.T289N	PEPD_ENST00000436370.3_Missense_Mutation_p.T225N|PEPD_ENST00000397032.4_Missense_Mutation_p.T248N	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	289					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					AAAGGAGCAGGTGATGTCGGA	0.617																																						ENST00000244137.6																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(865-867)aCc>aAc		peptidase D							70.0	81.0	77.0					19																	33892728		2123	4224	6347	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33892728G>T	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.866C>A	19.37:g.33892728G>T	ENSP00000244137:p.Thr289Asn					PEPD_ENST00000436370.3_Missense_Mutation_p.T225N|PEPD_ENST00000397032.4_Missense_Mutation_p.T248N	p.T289N	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN			12	899	-	Esophageal squamous(110;0.137)		289					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.866C>A	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353852	0.82243	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.81247	-1.47;-1.47;-1.47	5.38	5.38	0.77491	Peptidase M24, structural domain (3);	0.101283	0.64402	D	0.000003	D	0.95089	0.8409	H	0.99815	4.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97615	1.0132	10	0.87932	D	0	-39.7762	17.702	0.88298	0.0:0.0:1.0:0.0	.	225;248;289	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	N	289;248;225	ENSP00000244137:T289N;ENSP00000380226:T248N;ENSP00000391890:T225N	ENSP00000244137:T289N	T	-	2	0	PEPD	38584568	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.162000	0.77515	2.507000	0.84556	0.462000	0.41574	ACC		0.617	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		7	35	1	0	0.00307968	1	0.00321242	7	35				
ALDH3B1	221	broad.mit.edu	37	11	67789113	67789113	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:67789113G>A	ENST00000539229.1	+	8	835	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G204D|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G240D	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	241					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										TTCAACGCCGGCCAGACCTGC	0.652											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539229.1																			0											c.(718-720)gGc>gAc		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						96.0	106.0	102.0					11																	67789113		2200	4294	6494	SO:0001583	missense	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789113G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.719G>A	11.37:g.67789113G>A	ENSP00000474034:p.Gly240Asp		OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1102	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.G240D|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.G204D|ALDH3B1_ENST00000434449.1_3'UTR	p.G240D	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN			8	835	+			241					A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	ENST00000539229.1	37	c.719G>A																																																																																					0.652	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		5	278	0	0	0	1	0	5	278				
NUMA1	4926	broad.mit.edu	37	11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:71717105C>T	ENST00000393695.3	-	22	5999	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_ENST00000358965.6_Missense_Mutation_p.G1876R|NUMA1_ENST00000351960.6_Missense_Mutation_p.G754R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5668-5670)Ggg>Agg		nuclear mitotic apparatus protein 1							56.0	67.0	63.0					11																	71717105		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71717105C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5668G>A	11.37:g.71717105C>T	ENSP00000377298:p.Gly1890Arg					NUMA1_ENST00000351960.6_Missense_Mutation_p.G754R|NUMA1_ENST00000358965.6_Missense_Mutation_p.G1876R	p.G1890R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			22	5999	-			1890						Missense_Mutation	SNP	ENST00000393695.3	37	c.5668G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	6.536	0.467063	0.12402	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.16743	2.32;2.8;2.8	5.11	-0.59	0.11679	.	0.373945	0.24282	N	0.039900	T	0.05823	0.0152	N	0.04508	-0.205	0.19775	N	0.999952	B;B;B;B	0.32425	0.035;0.002;0.035;0.371	B;B;B;B	0.26770	0.006;0.004;0.006;0.073	T	0.39820	-0.9595	10	0.25106	T	0.35	.	9.2436	0.37511	0.0:0.4204:0.0:0.5796	.	1896;1876;1890;754	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	R	754;1876;1890;1439;863	ENSP00000260051:G754R;ENSP00000351851:G1876R;ENSP00000377298:G1890R	ENSP00000260051:G754R	G	-	1	0	NUMA1	71394753	0.538000	0.26394	0.194000	0.23346	0.844000	0.47949	0.772000	0.26647	0.005000	0.14708	0.655000	0.94253	GGG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			5	202	0	0	0	1	0	5	202				
ACKR1	2532	broad.mit.edu	37	1	159176123	159176123	+	Silent	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:159176123G>C	ENST00000368122.2	+	2	1573	c.894G>C	c.(892-894)gtG>gtC	p.V298V	DARC_ENST00000537147.1_Silent_p.V298V|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.V300V	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		298					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGCACTGTGTGGCTACGCCCC	0.607																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(892-894)gtG>gtC		Duffy blood group, atypical chemokine receptor							177.0	187.0	184.0					1																	159176123		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176123G>C																												ENST00000368122.2:c.894G>C	1.37:g.159176123G>C						DARC_ENST00000368121.2_Silent_p.V300V|DARC_ENST00000368122.2_Silent_p.V298V	p.V298V			Q16570	DUFFY_HUMAN			3	1737	+	all_hematologic(112;0.0429)		298					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.894G>C	CCDS1183.1																																																																																				0.607	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			35	357	0	0	0	1	0	35	357				
ACP7	390928	broad.mit.edu	37	19	39597658	39597658	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:39597658C>T	ENST00000331256.5	+	12	1459	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		395						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TGAAGGAGTACGGGTATACGC	0.637																																						ENST00000331256.5																			0											c.(1183-1185)taC>taT									92.0	70.0	77.0					19																	39597658		2203	4300	6503	SO:0001819	synonymous_variant	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39597658C>T																												ENST00000331256.5:c.1185C>T	19.37:g.39597658C>T						PAPL_ENST00000594229.1_Intron	p.Y395Y	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			12	1459	+			395					B2RN68	Silent	SNP	ENST00000331256.5	37	c.1185C>T	CCDS33018.1																																																																																				0.637	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			7	81	0	0	0	1	0	7	81				
UNC5C	8633	broad.mit.edu	37	4	96166269	96166269	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:96166269C>T	ENST00000453304.1	-	6	1150	c.802G>A	c.(802-804)Gag>Aag	p.E268K	UNC5C_ENST00000506749.1_Missense_Mutation_p.E268K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	268	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACAGACCACTCCGTCCAGGTG	0.512																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(802-804)Gag>Aag		unc-5 homolog C (C. elegans)							67.0	57.0	60.0					4																	96166269		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96166269C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.802G>A	4.37:g.96166269C>T	ENSP00000406022:p.Glu268Lys					UNC5C_ENST00000506749.1_Missense_Mutation_p.E268K	p.E268K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	6	1150	-		Hepatocellular(203;0.114)	268			TSP type-1 1.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.802G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546591	0.96488	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.58358	0.34;0.34;0.34	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	L	0.52823	1.66	0.80722	D	1	P;D;D	0.76494	0.949;0.999;0.997	P;D;D	0.81914	0.842;0.995;0.992	T	0.67526	-0.5648	10	0.48119	T	0.1	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	268;268;268	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	268;227;268;268	ENSP00000406022:E268K;ENSP00000426924:E268K;ENSP00000426153:E268K	ENSP00000328673:E227K	E	-	1	0	UNC5C	96385292	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.650000	0.83521	2.832000	0.97577	0.655000	0.94253	GAG		0.512	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		8	60	0	0	0	1	0	8	60				
EIF3C	8663	broad.mit.edu	37	16	28734621	28734621	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:28734621C>T	ENST00000331666.6	+	9	1099	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	EIF3C_ENST00000564243.1_Missense_Mutation_p.R295W|EIF3C_ENST00000566866.1_Missense_Mutation_p.R305W|EIF3C_ENST00000566501.1_Missense_Mutation_p.R305W|EIF3C_ENST00000395587.1_Missense_Mutation_p.R305W					eukaryotic translation initiation factor 3, subunit C									p.R305R(2)		lung(5)|skin(1)	6						GGAAAGGGTCCGGGGCGGAGT	0.537																																						ENST00000331666.6																			2	Substitution - coding silent(2)	p.R305R(2)	lung(2)	lung(5)|skin(1)	6						c.(913-915)Cgg>Tgg		eukaryotic translation initiation factor 3, subunit C																																				SO:0001583	missense	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734621C>T	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.913C>T	16.37:g.28734621C>T	ENSP00000332604:p.Arg305Trp					EIF3C_ENST00000564243.1_Missense_Mutation_p.R295W|EIF3C_ENST00000566501.1_Missense_Mutation_p.R305W|EIF3C_ENST00000395587.1_Missense_Mutation_p.R305W|EIF3C_ENST00000566866.1_Missense_Mutation_p.R305W	p.R305W			Q99613	EIF3C_HUMAN			9	1099	+			305						Missense_Mutation	SNP	ENST00000331666.6	37	c.913C>T	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.362376	0.24684	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	3.95	1.91	0.25777	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.070422	0.56097	D	0.000028	T	0.25754	0.0627	L	0.27053	0.805	0.34369	D	0.691793	D;D;D	0.55172	0.97;0.97;0.97	B;B;B	0.42245	0.381;0.272;0.381	T	0.37244	-0.9714	9	0.72032	D	0.01	.	4.7754	0.13176	0.3783:0.5164:0.0:0.1053	.	295;91;305	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	W	305;305;290;153;127	.	ENSP00000332604:R305W	R	+	1	2	EIF3C	28642122	1.000000	0.71417	0.959000	0.39883	0.316000	0.28119	2.870000	0.48451	0.425000	0.26087	-0.409000	0.06214	CGG		0.537	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		6	757	0	0	0	1	0	6	757				
FSTL4	23105	broad.mit.edu	37	5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572																																						ENST00000265342.7																			1	Substitution - Missense(1)	p.A753T(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2257-2259)Gcg>Acg		follistatin-like 4							70.0	69.0	69.0					5																	132535059		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535059C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2257G>A	5.37:g.132535059C>T	ENSP00000265342:p.Ala753Thr					CTB-49A3.2_ENST00000509051.1_RNA	p.A753T	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2506	-		all_cancers(142;0.244)	753					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2257G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277045	0.59758	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.28069	1.63	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	T	0.65780	-0.6085	10	0.72032	D	0.01	-23.8056	16.769	0.85532	0.0:1.0:0.0:0.0	.	753;402	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	T	753;584	ENSP00000265342:A753T	ENSP00000265342:A753T	A	-	1	0	FSTL4	132562958	1.000000	0.71417	0.126000	0.21872	0.002000	0.02628	4.540000	0.60664	2.200000	0.70718	0.585000	0.79938	GCG		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		20	67	0	0	0	1	0	20	67				
FAM71C	196472	broad.mit.edu	37	12	100042352	100042352	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:100042352G>A	ENST00000324341.1	+	1	822	c.400G>A	c.(400-402)Gta>Ata	p.V134I	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCACAACAGCGTAAAAAAACA	0.483																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(400-402)Gta>Ata		family with sequence similarity 71, member C							77.0	77.0	77.0					12																	100042352		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042352G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.400G>A	12.37:g.100042352G>A	ENSP00000315247:p.Val134Ile					ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	p.V134I	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	822	+			134					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.400G>A	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	g	2.826	-0.243640	0.05906	.	.	ENSG00000180219	ENST00000324341	T	0.17370	2.28	3.66	-5.89	0.02282	.	3.911600	0.00754	N	0.001098	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.20605	-1.0270	9	.	.	.	4.9639	1.2332	0.01947	0.1916:0.1478:0.3679:0.2927	.	134	Q8NEG0	FA71C_HUMAN	I	134	ENSP00000315247:V134I	.	V	+	1	0	FAM71C	98566483	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.471000	0.06631	-1.222000	0.02587	-1.327000	0.01280	GTA		0.483	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		5	111	0	0	0	1	0	5	111				
CCDC157	550631	broad.mit.edu	37	22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A	rs201763455		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H|CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(133-135)cGc>cAc		coiled-coil domain containing 157		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	124.0	128.0		134	3.1	0.8	22		128	0,8600		0,0,4300	yes	missense	CCDC157	NM_001017437.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	45/753	30762123	1,13005	2203	4300	6503	SO:0001583	missense	550631							g.chr22:30762123G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.134G>A	22.37:g.30762123G>A	ENSP00000385357:p.Arg45His					CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H|CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H	p.R45H			Q569K6	CC157_HUMAN			3	843	+			45					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.134G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592740	0.46214	2.27E-4	0.0	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.49720	0.77;1.73;1.73;1.31;1.3	5.25	3.14	0.36123	.	.	.	.	.	T	0.39989	0.1099	L	0.54323	1.7	0.80722	D	1	B	0.15930	0.015	B	0.09377	0.004	T	0.41893	-0.9483	9	0.72032	D	0.01	-10.9826	6.8649	0.24088	0.2995:0.0:0.7005:0.0	.	45	Q569K6	CC157_HUMAN	H	45	ENSP00000382720:R45H;ENSP00000385357:R45H;ENSP00000343087:R45H;ENSP00000387491:R45H;ENSP00000401837:R45H	ENSP00000343087:R45H	R	+	2	0	CCDC157	29092123	0.704000	0.27836	0.834000	0.33040	0.630000	0.37929	2.334000	0.43920	1.352000	0.45808	0.455000	0.32223	CGC		0.652	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		5	218	0	0	0	1	0	5	218				
NLK	51701	broad.mit.edu	37	17	26488204	26488204	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:26488204G>A	ENST00000407008.3	+	4	1381	c.663G>A	c.(661-663)ttG>ttA	p.L221L		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCACAGAATTGATGCAGAGTG	0.383																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(661-663)ttG>ttA		nemo-like kinase							103.0	95.0	98.0					17																	26488204		2203	4300	6503	SO:0001819	synonymous_variant	51701				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	g.chr17:26488204G>A	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.663G>A	17.37:g.26488204G>A							p.L221L	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	4	1381	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		221			Protein kinase.		B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	c.663G>A	CCDS11224.2																																																																																				0.383	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		3	29	0	0	0	1	0	3	29				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(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.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	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.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	59	0	0	0	1	0	6	59				
STAB2	55576	broad.mit.edu	37	12	104089528	104089528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:104089528C>T	ENST00000388887.2	+	33	3692	c.3488C>T	c.(3487-3489)gCg>gTg	p.A1163V		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATAATCTGGCGAATGCAATT	0.468																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(3487-3489)gCg>gTg		stabilin 2							101.0	94.0	96.0					12																	104089528		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089528C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3488C>T	12.37:g.104089528C>T	ENSP00000373539:p.Ala1163Val						p.A1163V	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			33	3692	+			1163			FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3488C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	0.619	-0.821849	0.02755	.	.	ENSG00000136011	ENST00000388887	D	0.90900	-2.75	6.17	3.31	0.37934	FAS1 domain (4);Growth factor, receptor (1);	0.241291	0.41097	N	0.000941	T	0.81583	0.4853	L	0.28192	0.835	0.35720	D	0.817073	P	0.35050	0.482	B	0.32393	0.145	T	0.77381	-0.2609	10	0.18276	T	0.48	.	10.5994	0.45358	0.0:0.7883:0.0:0.2117	.	1163	Q8WWQ8	STAB2_HUMAN	V	1163	ENSP00000373539:A1163V	ENSP00000373539:A1163V	A	+	2	0	STAB2	102613658	0.983000	0.35010	0.397000	0.26308	0.134000	0.20937	2.596000	0.46205	0.439000	0.26476	0.655000	0.94253	GCG		0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	86	0	0	0	1	0	4	86				
NRD1	4898	broad.mit.edu	37	1	52260186	52260186	+	Silent	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:52260186C>G	ENST00000354831.7	-	26	3126	c.2937G>C	c.(2935-2937)ctG>ctC	p.L979L	RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Silent_p.L847L|NRD1_ENST00000352171.7_Silent_p.L911L|RP4-657D16.3_ENST00000586761.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	910					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CACCCTTGTTCAGAGCTTTCA	0.547																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2935-2937)ctG>ctC		nardilysin (N-arginine dibasic convertase)							230.0	225.0	227.0					1																	52260186		2203	4300	6503	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260186C>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2937G>C	1.37:g.52260186C>G						RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Silent_p.L847L|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L911L|RP4-657D16.3_ENST00000586761.1_RNA	p.L979L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			26	3126	-			910					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.2937G>C	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	8.733	0.917115	0.17907	.	.	ENSG00000078618	ENST00000440943	.	.	.	5.53	1.54	0.23209	.	.	.	.	.	T	0.44117	0.1278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	-5.9255	2.8844	0.05657	0.1941:0.4799:0.1796:0.1464	.	.	.	.	Q	326	.	.	E	-	1	0	NRD1	52032774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.627000	0.24506	0.915000	0.36847	-0.136000	0.14681	GAA		0.547	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		46	318	0	0	0	1	0	46	318				
OR2B3	442184	broad.mit.edu	37	6	29055001	29055001	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:29055001G>T	ENST00000377173.2	-	1	89	c.25C>A	c.(25-27)Cca>Aca	p.P9T		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AACTCTTTTGGGGAGCTCTCA	0.363																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(25-27)Cca>Aca		olfactory receptor, family 2, subfamily B, member 3							60.0	60.0	60.0					6																	29055001		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29055001G>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.25C>A	6.37:g.29055001G>T	ENSP00000366378:p.Pro9Thr						p.P9T	NM_001005226.2	NP_001005226.1					1	89	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.25C>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856799	0.00558	.	.	ENSG00000204703	ENST00000377173	T	0.00318	8.12	3.37	-4.3	0.03710	.	0.927523	0.08806	N	0.891042	T	0.00039	0.0001	N	0.12961	0.28	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.10132	-1.0643	10	0.21540	T	0.41	.	0.5621	0.00680	0.3739:0.1195:0.1974:0.3092	.	9	O76000	OR2B3_HUMAN	T	9	ENSP00000366378:P9T	ENSP00000366378:P9T	P	-	1	0	OR2B3	29162980	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-0.388000	0.07352	-1.629000	0.01546	0.579000	0.79373	CCA		0.363	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			5	32	1	0	1.024e-07	1	1.0965e-07	5	32				
IFFO1	25900	broad.mit.edu	37	12	6657690	6657690	+	Silent	SNP	G	G	A	rs369387110		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:6657690G>A	ENST00000396840.2	-	6	1292	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	IFFO1_ENST00000336604.4_Silent_p.D420D|IFFO1_ENST00000465801.1_Silent_p.D113D|IFFO1_ENST00000436152.2_Silent_p.D113D|IFFO1_ENST00000356896.4_Silent_p.D420D			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	417						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTCACAGTCGTCCTCAAAAT	0.647																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(337-339)gaC>gaT		intermediate filament family orphan 1							64.0	64.0	64.0					12																	6657690		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6657690G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1251C>T	12.37:g.6657690G>A						IFFO1_ENST00000396840.2_Silent_p.D417D|IFFO1_ENST00000356896.4_Silent_p.D420D|IFFO1_ENST00000336604.4_Silent_p.D420D|IFFO1_ENST00000465801.1_Silent_p.D113D	p.D113D			Q0D2I5	IFFO1_HUMAN			8	898	-			417					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.339C>T		.	.	.	.	.	.	.	.	.	.	G	8.633	0.894241	0.17613	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.55	3.64	0.41730	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55503	-0.8131	4	.	.	.	-21.9407	8.9397	0.35722	0.2048:0.0:0.7952:0.0	.	.	.	.	M	151	.	.	T	-	2	0	IFFO1	6527951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.980000	0.40618	2.072000	0.62099	0.655000	0.94253	ACG		0.647	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		19	107	0	0	0	1	0	19	107				
RGL3	57139	broad.mit.edu	37	19	11526735	11526735	+	Missense_Mutation	SNP	C	C	T	rs200092682		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:11526735C>T	ENST00000380456.3	-	5	578	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	RGL3_ENST00000393423.3_Missense_Mutation_p.R172Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	172	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CAGAAAGGTTCGGACACTGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		14505	0.001		0.0	False		,,,				2504	0.0				GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(514-516)cGa>cAa		ral guanine nucleotide dissociation stimulator-like 3							46.0	54.0	51.0					19																	11526735		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526735C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.515G>A	19.37:g.11526735C>T	ENSP00000369823:p.Arg172Gln					RGL3_ENST00000393423.3_Missense_Mutation_p.R172Q	p.R172Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			5	578	-			172			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.515G>A	CCDS32910.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.57	2.275506	0.40294	.	.	ENSG00000205517	ENST00000393423;ENST00000380456	T;T	0.28666	1.6;1.6	4.88	2.73	0.32206	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.545545	0.19668	N	0.108838	T	0.12603	0.0306	N	0.04880	-0.145	0.09310	N	1	B;B	0.28605	0.033;0.217	B;B	0.19391	0.012;0.025	T	0.15492	-1.0435	10	0.62326	D	0.03	.	5.1457	0.14983	0.1651:0.6569:0.0:0.1781	.	172;172	Q3MIN7;B5ME84	RGL3_HUMAN;.	Q	172	ENSP00000377075:R172Q;ENSP00000369823:R172Q	ENSP00000369823:R172Q	R	-	2	0	RGL3	11387735	0.000000	0.05858	0.000000	0.03702	0.990000	0.78478	0.082000	0.14847	0.463000	0.27118	0.511000	0.50034	CGA		0.612	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		4	160	0	0	0	1	0	4	160				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						ENST00000348035.4																			2	Substitution - Missense(2)	p.A159V(1)|p.A178V(1)	endometrium(2)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(475-477)gCg>gTg		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	p.A159V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	689	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		22	103	0	0	0	1	0	22	103				
LAMA2	3908	broad.mit.edu	37	6	129475783	129475783	+	Silent	SNP	T	T	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:129475783T>C	ENST00000421865.2	+	8	1210	c.1161T>C	c.(1159-1161)ggT>ggC	p.G387G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	387	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACTGCTGGTATAAACTGCG	0.358																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(1159-1161)ggT>ggC		laminin, alpha 2							104.0	101.0	102.0					6																	129475783		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129475783T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1161T>C	6.37:g.129475783T>C							p.G387G	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	8	1210	+			387			Laminin EGF-like 2.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.1161T>C	CCDS5138.1																																																																																				0.358	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			8	81	0	0	0	1	0	8	81				
COL3A1	1281	broad.mit.edu	37	2	189861176	189861176	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:189861176G>A	ENST00000304636.3	+	24	1885	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R572Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	572	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCTGGTCCCCGAGGTCAGCCT	0.408																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1714-1716)cGa>cAa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						44.0	48.0	47.0					2																	189861176		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189861176G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1715G>A	2.37:g.189861176G>A	ENSP00000304408:p.Arg572Gln					COL3A1_ENST00000317840.5_Missense_Mutation_p.R572Q	p.R572Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		24	1885	+			572			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1715G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896434	0.91962	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.96011	-3.88;-3.88	5.74	5.74	0.90152	.	0.000000	0.42682	D	0.000680	D	0.95950	0.8681	N	0.26130	0.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94964	0.8111	10	0.31617	T	0.26	.	19.9185	0.97074	0.0:0.0:1.0:0.0	.	572	P02461	CO3A1_HUMAN	Q	572	ENSP00000304408:R572Q;ENSP00000315243:R572Q	ENSP00000304408:R572Q	R	+	2	0	COL3A1	189569421	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.585000	0.98223	2.711000	0.92665	0.561000	0.74099	CGA		0.408	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		7	33	0	0	0	1	0	7	33				
MDN1	23195	broad.mit.edu	37	6	90362821	90362821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:90362821C>A	ENST00000369393.3	-	94	15830	c.15715G>T	c.(15715-15717)Gac>Tac	p.D5239Y	MDN1_ENST00000428876.1_Missense_Mutation_p.D5239Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5239					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTCTGGGGTCTTGGTCTTCC	0.393																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15715-15717)Gac>Tac		MDN1, midasin homolog (yeast)							275.0	267.0	270.0					6																	90362821		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90362821C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15715G>T	6.37:g.90362821C>A	ENSP00000358400:p.Asp5239Tyr					MDN1_ENST00000428876.1_Missense_Mutation_p.D5239Y	p.D5239Y			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	94	15830	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5239					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15715G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141825	0.09083	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.42513	0.97;0.97	6.17	4.4	0.53042	.	0.317683	0.32918	N	0.005491	T	0.20210	0.0486	L	0.60455	1.87	0.25837	N	0.984104	P	0.35383	0.498	B	0.30401	0.115	T	0.07888	-1.0749	10	0.66056	D	0.02	.	10.638	0.45575	0.0:0.7994:0.1321:0.0685	.	5239	Q9NU22	MDN1_HUMAN	Y	5239	ENSP00000358400:D5239Y;ENSP00000413970:D5239Y	ENSP00000358400:D5239Y	D	-	1	0	MDN1	90419542	0.559000	0.26562	0.117000	0.21633	0.008000	0.06430	1.756000	0.38390	0.935000	0.37341	0.655000	0.94253	GAC		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			25	194	1	0	2.27525e-19	1	2.48023e-19	25	194				
SLFN12L	100506736	broad.mit.edu	37	17	33807104	33807104	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:33807104C>G	ENST00000260908.7	-	2	242	c.125G>C	c.(124-126)gGa>gCa	p.G42A	SLFN12L_ENST00000449046.1_Missense_Mutation_p.G73A|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G71A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	42						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						ATTGTTCTCTCCAAGAGTGAC	0.423																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(124-126)gGa>gCa		schlafen family member 12-like							56.0	43.0	47.0					17																	33807104		692	1591	2283	SO:0001583	missense	100506736					integral to membrane	ATP binding	g.chr17:33807104C>G	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.125G>C	17.37:g.33807104C>G	ENSP00000437635:p.Gly42Ala					SLFN12L_ENST00000449046.1_Missense_Mutation_p.G73A|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G71A	p.G42A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			2	242	-			74					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.125G>C	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196088	0.58126	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.26067	1.83;3.14;1.76	2.72	2.72	0.32119	.	.	.	.	.	T	0.48768	0.1518	M	0.77616	2.38	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.19614	-1.0300	9	0.87932	D	0	.	8.9486	0.35773	0.0:1.0:0.0:0.0	.	71	Q6IEE8-2	.	A	42;71;73	ENSP00000437635:G42A;ENSP00000354412:G71A;ENSP00000389348:G73A	ENSP00000437635:G42A	G	-	2	0	SLFN12L	30831217	1.000000	0.71417	0.028000	0.17463	0.595000	0.36748	4.647000	0.61418	1.504000	0.48704	0.205000	0.17691	GGA		0.423	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		7	39	0	0	0	1	0	7	39				
OPCML	4978	broad.mit.edu	37	11	132527123	132527123	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:132527123G>A	ENST00000331898.7	-	2	837	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	OPCML_ENST00000524381.1_Missense_Mutation_p.R80C|OPCML_ENST00000374778.4_Missense_Mutation_p.R46C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R87C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	87	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATGATCACACGAGGGTCTATG	0.527																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(259-261)Cgt>Tgt		opioid binding protein/cell adhesion molecule-like							224.0	164.0	184.0					11																	132527123		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527123G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.259C>T	11.37:g.132527123G>A	ENSP00000330862:p.Arg87Cys					OPCML_ENST00000374778.4_Missense_Mutation_p.R46C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R80C|OPCML_ENST00000541867.1_Missense_Mutation_p.R87C	p.R87C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	837	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	87			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.259C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926969	0.92319	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058301	0.64402	D	0.000001	T	0.75708	0.3886	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81189	-0.1046	10	0.87932	D	0	-5.6923	20.3206	0.98668	0.0:0.0:1.0:0.0	.	87;80;87;87	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	C	87;80;46;87	ENSP00000330862:R87C;ENSP00000434750:R80C;ENSP00000363910:R46C;ENSP00000445496:R87C	ENSP00000330862:R87C	R	-	1	0	OPCML	132032333	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.564000	0.73969	2.809000	0.96659	0.655000	0.94253	CGT		0.527	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		9	93	0	0	0	1	0	9	93				
LRCH1	23143	broad.mit.edu	37	13	47243286	47243286	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr13:47243286G>A	ENST00000389798.3	+	3	771	c.574G>A	c.(574-576)Gag>Aag	p.E192K	LRCH1_ENST00000389797.3_Missense_Mutation_p.E192K|LRCH1_ENST00000311191.6_Missense_Mutation_p.E192K	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	192										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAGTTAATGGAGCTGGTATG	0.423																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(574-576)Gag>Aag		leucine-rich repeats and calponin homology (CH) domain containing 1							133.0	120.0	125.0					13																	47243286		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47243286G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.574G>A	13.37:g.47243286G>A	ENSP00000374448:p.Glu192Lys					LRCH1_ENST00000389798.3_Missense_Mutation_p.E192K|LRCH1_ENST00000389797.3_Missense_Mutation_p.E192K	p.E192K	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	3	803	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	192					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.574G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609106	0.96637	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.28895	1.59;1.59;1.59	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	N	0.17278	0.47	0.80722	D	1	D;D;D;P	0.63880	0.992;0.993;0.99;0.933	P;P;P;P	0.60541	0.876;0.851;0.803;0.853	T	0.26677	-1.0096	10	0.56958	D	0.05	-2.8535	19.1313	0.93408	0.0:0.0:1.0:0.0	.	192;192;192;192	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	K	192	ENSP00000308493:E192K;ENSP00000374448:E192K;ENSP00000374447:E192K	ENSP00000308493:E192K	E	+	1	0	LRCH1	46141287	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.631000	0.98424	2.769000	0.95229	0.561000	0.74099	GAG		0.423	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		19	96	0	0	0	1	0	19	96				
RP11-337C18.8	0	broad.mit.edu	37	1	146650338	146650338	+	RNA	SNP	G	G	C	rs587606494		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:146650338G>C	ENST00000607149.1	+	0	350				RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							TAACAAGTTGGAGGACAAGAC	0.398																																						ENST00000607149.1																			0																																																			0							g.chr1:146650338G>C																													1.37:g.146650338G>C														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.398	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			12	64	0	0	0	1	0	12	64				
CNTN4	152330	broad.mit.edu	37	3	3076402	3076402	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:3076402C>G	ENST00000397461.1	+	16	2254	c.1870C>G	c.(1870-1872)Cac>Gac	p.H624D	CNTN4_ENST00000418658.1_Missense_Mutation_p.H624D|CNTN4_ENST00000358480.3_Missense_Mutation_p.H405D|CNTN4_ENST00000397459.2_Missense_Mutation_p.H296D|CNTN4_ENST00000448906.2_Missense_Mutation_p.H296D|CNTN4_ENST00000427331.1_Missense_Mutation_p.H624D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	624	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCTGACAACCACAGCCCCAT	0.547																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1870-1872)Cac>Gac		contactin 4							127.0	99.0	108.0					3																	3076402		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3076402C>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1870C>G	3.37:g.3076402C>G	ENSP00000380602:p.His624Asp					CNTN4_ENST00000427331.1_Missense_Mutation_p.H624D|CNTN4_ENST00000448906.2_Missense_Mutation_p.H296D|CNTN4_ENST00000418658.1_Missense_Mutation_p.H624D|CNTN4_ENST00000358480.3_Missense_Mutation_p.H405D|CNTN4_ENST00000397459.2_Missense_Mutation_p.H296D	p.H624D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2254	+		Ovarian(110;0.156)	624			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1870C>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430429	0.83776	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057924	0.64402	D	0.000001	T	0.68641	0.3023	M	0.80183	2.485	0.80722	D	1	P;D;D	0.61697	0.553;0.974;0.99	B;P;D	0.64877	0.373;0.83;0.93	T	0.73496	-0.3964	10	0.49607	T	0.09	.	17.0894	0.86618	0.0:1.0:0.0:0.0	.	623;624;624	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	D	624;624;624;405;296;296	ENSP00000396010:H624D;ENSP00000380602:H624D;ENSP00000413642:H624D;ENSP00000351267:H405D;ENSP00000380600:H296D;ENSP00000392077:H296D	ENSP00000351267:H405D	H	+	1	0	CNTN4	3051402	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.600000	0.82769	2.086000	0.62901	0.563000	0.77884	CAC		0.547	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			11	70	0	0	0	1	0	11	70				
DROSHA	29102	broad.mit.edu	37	5	31511215	31511215	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:31511215C>T	ENST00000511367.2	-	8	1603	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	DROSHA_ENST00000344624.3_Silent_p.G453G|DROSHA_ENST00000442743.1_Silent_p.G416G|DROSHA_ENST00000513349.1_Silent_p.G416G	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	453					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTGCCTGCTCCCCAACTCCT	0.453																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(1357-1359)ggG>ggA		drosha, ribonuclease type III							117.0	112.0	113.0					5																	31511215		1962	4150	6112	SO:0001819	synonymous_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31511215C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1359G>A	5.37:g.31511215C>T						DROSHA_ENST00000442743.1_Silent_p.G416G|DROSHA_ENST00000344624.3_Silent_p.G453G|DROSHA_ENST00000513349.1_Silent_p.G416G	p.G453G	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			8	1603	-			453					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	c.1359G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430580	0.25726	.	.	ENSG00000113360	ENST00000512076	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55964	-0.8057	4	.	.	.	-23.9312	5.737	0.18071	0.0:0.6611:0.1772:0.1618	.	.	.	.	K	215	.	.	E	-	1	0	DROSHA	31546972	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.992000	0.29667	1.604000	0.50143	-0.182000	0.12963	GAG		0.453	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		11	60	0	0	0	1	0	11	60				
SLITRK5	26050	broad.mit.edu	37	13	88329446	88329446	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr13:88329446C>T	ENST00000325089.6	+	2	2022	c.1803C>T	c.(1801-1803)acC>acT	p.T601T	SLITRK5_ENST00000400028.3_Silent_p.T360T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	601	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCGCTGAGACCGACATGCGCT	0.557																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1801-1803)acC>acT		SLIT and NTRK-like family, member 5							168.0	152.0	157.0					13																	88329446		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329446C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1803C>T	13.37:g.88329446C>T						SLITRK5_ENST00000400028.3_Silent_p.T360T	p.T601T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2022	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		601			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1803C>T	CCDS9465.1																																																																																				0.557	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			29	218	0	0	0	1	0	29	218				
P2RY14	9934	broad.mit.edu	37	3	150931664	150931664	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr3:150931664C>T	ENST00000309170.3	-	3	753	c.441G>A	c.(439-441)atG>atA	p.M147I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.M147I	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	147					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAGCATGAGCATCCATACTA	0.383																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(439-441)atG>atA		purinergic receptor P2Y, G-protein coupled, 14							121.0	111.0	114.0					3																	150931664		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931664C>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.441G>A	3.37:g.150931664C>T	ENSP00000308361:p.Met147Ile					MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.M147I|MED12L_ENST00000273432.4_Intron	p.M147I	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	753	-			147					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.441G>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.768541	0.00645	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.32753	1.44;1.44	5.9	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	2.537480	0.01130	N	0.005960	T	0.16428	0.0395	N	0.10760	0.04	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.19976	-1.0289	10	0.10636	T	0.68	-0.4628	7.0805	0.25229	0.0972:0.43:0.3827:0.0901	.	147	Q15391	P2Y14_HUMAN	I	147	ENSP00000308361:M147I;ENSP00000408733:M147I	ENSP00000308361:M147I	M	-	3	0	P2RY14	152414354	0.000000	0.05858	0.553000	0.28255	0.083000	0.17756	-0.165000	0.09968	0.770000	0.33336	0.650000	0.86243	ATG		0.383	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		6	92	0	0	0	1	0	6	92				
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:38389495C>A	ENST00000390344.2	-	0	128									T cell receptor gamma variable 5																		CTTAAAACTCCGGCCCCACTC	0.542													A|||	752	0.15016	0.1755	0.2435	5008	,	,		15107	0.0794		0.1481	False		,,,				2504	0.1247					ENST00000390344.2																			0																				42.0	43.0	43.0					7																	38389495		689	1570	2259			6978							g.chr7:38389495C>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389495C>A														0	128	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.542	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		3	38	1	0	0.00909568	1	0.00940664	3	38				
PHF3	23469	broad.mit.edu	37	6	64394047	64394047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:64394047C>T	ENST00000262043.3	+	4	764	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.R142*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.R142*			Q92576	PHF3_HUMAN	PHD finger protein 3	142					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R142*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGAAGTTTGCGACAGAGCAC	0.343																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			1	Substitution - Nonsense(1)	p.R142*(1)	large_intestine(1)	breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(424-426)Cga>Tga		PHD finger protein 3							99.0	109.0	105.0					6																	64394047		2203	4299	6502	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394047C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.424C>T	6.37:g.64394047C>T	ENSP00000262043:p.Arg142*					PHF3_ENST00000393387.1_Nonsense_Mutation_p.R142*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.R142*	p.R142*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	764	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		142					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.424C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938912	0.73557	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.92	5.92	0.95590	.	0.000000	0.32416	N	0.006126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5548	15.0797	0.72106	0.1417:0.8582:0.0:0.0	.	.	.	.	X	54;142;95;142;142;72	.	ENSP00000262043:R142X	R	+	1	2	PHF3	64452006	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.884000	0.56175	2.801000	0.96364	0.650000	0.86243	CGA		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			6	211	0	0	0	1	0	6	211				
TSSC4	10078	broad.mit.edu	37	11	2424709	2424709	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:2424709G>A	ENST00000333256.6	+	3	1289	c.846G>A	c.(844-846)gaG>gaA	p.E282E	TSSC4_ENST00000451491.2_Silent_p.E282E|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380992.1_Intron|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380996.5_Silent_p.E218E			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	282										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAGGTGGAGGCACTGTCAG	0.677																																						ENST00000333256.6																			0				endometrium(3)|large_intestine(1)|lung(4)	8						c.(844-846)gaG>gaA		tumor suppressing subtransferable candidate 4							46.0	44.0	45.0					11																	2424709		2196	4297	6493	SO:0001819	synonymous_variant	10078							g.chr11:2424709G>A	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.846G>A	11.37:g.2424709G>A						TSSC4_ENST00000451491.2_Silent_p.E282E|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380996.5_Silent_p.E218E	p.E282E			Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	3	1289	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	282					C9JS66|Q86VL2|Q9BRS6	Silent	SNP	ENST00000333256.6	37	c.846G>A	CCDS7735.1																																																																																				0.677	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		6	19	0	0	0	1	0	6	19				
ATRX	546	broad.mit.edu	37	X	76890140	76890140	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:76890140G>A	ENST00000373344.5	-	17	4968	c.4754C>T	c.(4753-4755)tCt>tTt	p.S1585F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1547F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1585	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S1585F(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGAACCTGGAGATTTCTTTGT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.S1585F(2)|p.?(1)	lung(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4753-4755)tCt>tTt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						177.0	173.0	174.0					X																	76890140		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890140G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4754C>T	X.37:g.76890140G>A	ENSP00000362441:p.Ser1585Phe					ATRX_ENST00000395603.3_Missense_Mutation_p.S1547F|ATRX_ENST00000480283.1_5'UTR	p.S1585F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4968	-			1585			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4754C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262572	0.59431	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.25414	1.8;1.8	5.77	5.77	0.91146	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.977;0.995	T	0.24657	-1.0154	10	0.87932	D	0	-5.5189	13.8299	0.63373	0.0:0.0:0.8473:0.1527	.	1547;1585	P46100-4;P46100	.;ATRX_HUMAN	F	1585;1547	ENSP00000362441:S1585F;ENSP00000378967:S1547F	ENSP00000362441:S1585F	S	-	2	0	ATRX	76776796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.469000	0.80959	2.414000	0.81942	0.600000	0.82982	TCT		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		23	156	0	0	0	1	0	23	156				
ALKBH1	8846	broad.mit.edu	37	14	78140550	78140550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:78140550G>A	ENST00000216489.3	-	6	790	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	259	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCCTTTGAAGACCACCCAGG	0.433																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(775-777)Ctt>Ttt		alkB, alkylation repair homolog 1 (E. coli)							35.0	34.0	34.0					14																	78140550		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140550G>A	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.775C>T	14.37:g.78140550G>A	ENSP00000216489:p.Leu259Phe						p.L259F	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	790	-			259			Fe2OG dioxygenase.		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.775C>T	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771940	0.69992	.	.	ENSG00000100601	ENST00000216489	T	0.11604	2.76	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (1);	0.277274	0.35207	N	0.003380	T	0.19725	0.0474	M	0.66439	2.03	0.45161	D	0.998174	P	0.44877	0.845	P	0.46629	0.522	T	0.00085	-1.2098	10	0.56958	D	0.05	-34.1257	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	259	Q13686	ALKB1_HUMAN	F	259	ENSP00000216489:L259F	ENSP00000216489:L259F	L	-	1	0	ALKBH1	77210303	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.769000	0.47654	2.824000	0.97209	0.655000	0.94253	CTT		0.433	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		9	46	0	0	0	1	0	9	46				
SRRM2	23524	broad.mit.edu	37	16	2818127	2818127	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2818127C>A	ENST00000301740.8	+	11	8147	c.7598C>A	c.(7597-7599)tCc>tAc	p.S2533Y	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2533	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGGCGGAGTtcctcctcgtcg	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7597-7599)tCc>tAc		serine/arginine repetitive matrix 2							59.0	52.0	55.0					16																	2818127		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818127C>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7598C>A	16.37:g.2818127C>A	ENSP00000301740:p.Ser2533Tyr					SRRM2_ENST00000574593.1_3'UTR	p.S2533Y	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	8147	+			2533			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7598C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890043	0.52014	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.78003	-1.14	5.91	5.91	0.95273	.	0.000000	0.52532	D	0.000066	D	0.82733	0.5101	L	0.32530	0.975	0.37152	D	0.90219	D	0.65815	0.995	D	0.75484	0.986	D	0.85817	0.1383	10	0.87932	D	0	-3.632	15.8054	0.78501	0.0:1.0:0.0:0.0	.	2533	Q9UQ35	SRRM2_HUMAN	Y	2533;2115;1785	ENSP00000301740:S2533Y	ENSP00000301740:S2533Y	S	+	2	0	SRRM2	2758128	0.994000	0.37717	0.863000	0.33907	0.909000	0.53808	4.133000	0.57983	2.808000	0.96608	0.655000	0.94253	TCC		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	41	1	0	0.150653	1	0.150653	4	41				
LAMA2	3908	broad.mit.edu	37	6	129799900	129799900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:129799900C>T	ENST00000421865.2	+	54	7563	c.7514C>T	c.(7513-7515)cCg>cTg	p.P2505L	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2505	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAAGAACTCCGTACAATATA	0.358																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7513-7515)cCg>cTg		laminin, alpha 2							146.0	143.0	144.0					6																	129799900		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129799900C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7514C>T	6.37:g.129799900C>T	ENSP00000400365:p.Pro2505Leu						p.P2505L	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7563	+			2505			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7514C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956772	0.92726	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.76186	-1.0	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	L	0.33339	1.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73569	-0.3941	9	.	.	.	.	19.8886	0.96919	0.0:1.0:0.0:0.0	.	2506;2505	A6NF00;P24043	.;LAMA2_HUMAN	L	2505;2504;2505;523	ENSP00000400365:P2505L	.	P	+	2	0	LAMA2	129841593	1.000000	0.71417	0.869000	0.34112	0.949000	0.60115	7.162000	0.77515	2.801000	0.96364	0.655000	0.94253	CCG		0.358	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			39	133	0	0	0	1	0	39	133				
STAT4	6775	broad.mit.edu	37	2	191896239	191896239	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:191896239G>A	ENST00000392320.2	-	22	2362	c.2048C>T	c.(2047-2049)tCa>tTa	p.S683L	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.S683L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	683					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGTTGGTCTTGAAACTGGAAA	0.313																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(2047-2049)tCa>tTa		signal transducer and activator of transcription 4							84.0	80.0	81.0					2																	191896239		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191896239G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2048C>T	2.37:g.191896239G>A	ENSP00000376134:p.Ser683Leu					STAT4_ENST00000358470.4_Missense_Mutation_p.S683L|AC067945.4_ENST00000456176.1_RNA	p.S683L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		22	2362	-			683					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.2048C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096554	0.36952	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96716	-4.1;-4.1	5.04	5.04	0.67666	SH2 motif (1);	0.619629	0.14513	N	0.314966	D	0.92489	0.7615	L	0.31752	0.955	0.80722	D	1	B;B	0.33694	0.002;0.421	B;B	0.17433	0.0;0.018	D	0.90349	0.4365	10	0.36615	T	0.2	-25.703	18.9283	0.92553	0.0:0.0:1.0:0.0	.	592;683	Q53S87;Q14765	.;STAT4_HUMAN	L	683	ENSP00000351255:S683L;ENSP00000376134:S683L	ENSP00000351255:S683L	S	-	2	0	STAT4	191604484	1.000000	0.71417	0.998000	0.56505	0.335000	0.28730	6.389000	0.73199	2.779000	0.95612	0.591000	0.81541	TCA		0.313	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		6	27	0	0	0	1	0	6	27				
RPL13AP3	645683	broad.mit.edu	37	14	56233184	56233184	+	lincRNA	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:56233184C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CAAGCGAGGCCATGCCTCCCT	0.607																																						ENST00000554458.1																			0																																																			645683							g.chr14:56233184C>T																													14.37:g.56233184C>T						RPL13AP3_ENST00000494676.1_RNA								0	75	+									RNA	SNP	ENST00000554458.1	37																																																																																						0.607	RP11-813I20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411474.1			4	25	0	0	0	1	0	4	25				
LPAL2	80350	broad.mit.edu	37	6	160913955	160913955	+	RNA	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:160913955C>T	ENST00000335388.5	-	0	365					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AAGGGCCTGCCGAACAATCCG	0.502																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5															135.0	120.0	125.0					6																	160913955		2203	4300	6503			80350							g.chr6:160913955C>T	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160913955C>T								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	365	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.502	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		4	160	0	0	0	1	0	4	160				
SRRM2	23524	broad.mit.edu	37	16	2817460	2817460	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2817460C>G	ENST00000301740.8	+	11	7480	c.6931C>G	c.(6931-6933)Ctc>Gtc	p.L2311V	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2311	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCTCTGAGTCTCACAGGCTC	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6931-6933)Ctc>Gtc		serine/arginine repetitive matrix 2							162.0	169.0	166.0					16																	2817460		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817460C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6931C>G	16.37:g.2817460C>G	ENSP00000301740:p.Leu2311Val						p.L2311V	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7480	+			2311			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6931C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867788	0.32977	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78481	-1.18	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000024	T	0.82079	0.4959	L	0.34521	1.04	0.32849	D	0.506404	D	0.63880	0.993	D	0.70016	0.967	D	0.85106	0.0960	10	0.52906	T	0.07	-9.1479	15.4828	0.75542	0.0:1.0:0.0:0.0	.	2311	Q9UQ35	SRRM2_HUMAN	V	2311;1563	ENSP00000301740:L2311V	ENSP00000301740:L2311V	L	+	1	0	SRRM2	2757461	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	4.106000	0.57804	2.728000	0.93425	0.655000	0.94253	CTC		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			60	485	0	0	0	1	0	60	485				
FLNA	2316	broad.mit.edu	37	X	153580772	153580772	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:153580772C>T	ENST00000369850.3	-	41	6782	c.6546G>A	c.(6544-6546)tcG>tcA	p.S2182S	FLNA_ENST00000344736.4_Silent_p.S2142S|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Silent_p.S315S|FLNA_ENST00000360319.4_Silent_p.S2174S|FLNA_ENST00000422373.1_Silent_p.S2174S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2182					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTCTTGCCCGATGGGCTGG	0.597																																						ENST00000422373.1																			0				breast(6)	6						c.(6520-6522)tcG>tcA		filamin A, alpha							81.0	86.0	84.0					X																	153580772		2134	4214	6348	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580772C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6546G>A	X.37:g.153580772C>T						FLNA_ENST00000369850.3_Silent_p.S2182S|FLNA_ENST00000360319.4_Silent_p.S2174S|FLNA_ENST00000344736.4_Silent_p.S2142S|FLNA_ENST00000369856.3_Silent_p.S315S	p.S2174S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			40	6770	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2182					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6522G>A	CCDS48194.1																																																																																				0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	176	0	0	0	1	0	4	176				
EPPIN	57119	broad.mit.edu	37	20	44166663	44166663	+	IGR	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:44166663G>A	ENST00000354280.4	-	0	1987				WFDC6_ENST00000372670.3_Silent_p.C54C|EPPIN_ENST00000555685.1_Silent_p.C154C|EPPIN-WFDC6_ENST00000504988.1_Silent_p.C154C|WFDC6_ENST00000600168.1_Silent_p.C54C	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGTTTTCTGGGCAATCTCTGG	0.458																																						ENST00000504988.1																			0											c.(460-462)tgC>tgT									256.0	234.0	241.0					20																	44166663		2203	4300	6503	SO:0001628	intergenic_variant	100526773							g.chr20:44166663G>A	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44166663G>A						WFDC6_ENST00000600168.1_Silent_p.C54C|WFDC6_ENST00000372670.3_Silent_p.C54C|EPPIN_ENST00000555685.1_Silent_p.C154C	p.C154C	NM_001198986.1	NP_001185915.1					4	530	-								A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	c.462C>T	CCDS13359.1																																																																																				0.458	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			4	182	0	0	0	1	0	4	182				
GABRB3	2562	broad.mit.edu	37	15	26825563	26825563	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:26825563G>A	ENST00000311550.5	-	6	696	c.585C>T	c.(583-585)ggC>ggT	p.G195G	GABRB3_ENST00000545868.1_Silent_p.G110G|GABRB3_ENST00000400188.3_Silent_p.G124G|GABRB3_ENST00000541819.2_Silent_p.G251G|GABRB3_ENST00000299267.4_Silent_p.G195G	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	195					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTTGTCCCCGCCTCGCCAGT	0.532																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(751-753)ggC>ggT		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						108.0	92.0	97.0					15																	26825563		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825563G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.585C>T	15.37:g.26825563G>A						GABRB3_ENST00000545868.1_Silent_p.G110G|GABRB3_ENST00000311550.5_Silent_p.G195G|GABRB3_ENST00000299267.4_Silent_p.G195G|GABRB3_ENST00000400188.3_Silent_p.G124G	p.G251G			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	855	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	195					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.753C>T	CCDS10019.1																																																																																				0.532	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			19	87	0	0	0	1	0	19	87				
IP6K3	117283	broad.mit.edu	37	6	33690701	33690701	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:33690701C>T	ENST00000293756.4	-	6	1355	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	IP6K3_ENST00000451316.1_Silent_p.P343P	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	343					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CGTGAGGATGCGGGCTGCCTG	0.552																																						ENST00000451316.1																			0				skin(1)	1						c.(1027-1029)ccG>ccA		inositol hexakisphosphate kinase 3							75.0	76.0	76.0					6																	33690701		2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690701C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1029G>A	6.37:g.33690701C>T						IP6K3_ENST00000293756.4_Silent_p.P343P	p.P343P	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			7	1564	-			343					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.1029G>A	CCDS34435.1																																																																																				0.552	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		4	135	0	0	0	1	0	4	135				
KIAA1244	57221	broad.mit.edu	37	6	138617995	138617995	+	Missense_Mutation	SNP	G	G	T	rs146602445		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:138617995G>T	ENST00000251691.4	+	21	3717	c.3551G>T	c.(3550-3552)cGc>cTc	p.R1184L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CACCTGTTCCGCCTGGGGAAT	0.557																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3550-3552)cGc>cTc		KIAA1244		G	LEU/ARG	0,4406		0,0,2203	129.0	129.0	129.0		3551	5.9	1.0	6	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1244	NM_020340.4	102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	1184/2178	138617995	1,13005	2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138617995G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3551G>T	6.37:g.138617995G>T	ENSP00000251691:p.Arg1184Leu						p.R1184L	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	21	3717	+	Breast(32;0.135)		1184						Missense_Mutation	SNP	ENST00000251691.4	37	c.3551G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951355	0.92660	0.0	1.16E-4	ENSG00000112379	ENST00000251691	T	0.24350	1.86	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.35500	-0.9786	10	0.87932	D	0	-17.7402	20.2113	0.98287	0.0:0.0:1.0:0.0	.	1184	Q5TH69	BIG3_HUMAN	L	1184	ENSP00000251691:R1184L	ENSP00000251691:R1184L	R	+	2	0	KIAA1244	138659688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.563000	0.98148	2.775000	0.95449	0.655000	0.94253	CGC		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		39	193	1	0	1.57019e-19	1	1.72721e-19	39	193				
LLGL2	3993	broad.mit.edu	37	17	73569247	73569247	+	Silent	SNP	C	C	T	rs145181414		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:73569247C>T	ENST00000392550.3	+	20	2730	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G	LLGL2_ENST00000577200.1_Silent_p.G871G|LLGL2_ENST00000167462.5_Silent_p.G871G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	871					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCTGGGCGACATCCAGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15087	0.0		0.0	False		,,,				2504	0.001					ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2611-2613)ggC>ggT		lethal giant larvae homolog 2 (Drosophila)		C	,	1,4405	2.1+/-5.4	0,1,2202	59.0	51.0	54.0		2613,2613	-8.0	0.7	17	dbSNP_134	54	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous	LLGL2	NM_001031803.1,NM_004524.2	,	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	,	871/1021,871/1016	73569247	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569247C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2613C>T	17.37:g.73569247C>T						LLGL2_ENST00000167462.5_Silent_p.G871G|LLGL2_ENST00000577200.1_Silent_p.G871G	p.G871G	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2730	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		871					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.2613C>T	CCDS32733.1																																																																																				0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		4	92	0	0	0	1	0	4	92				
SULT1A1	6817	broad.mit.edu	37	16	28618394	28618394	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:28618394A>G	ENST00000395607.1	-	5	650	c.377T>C	c.(376-378)gTc>gCc	p.V126A	SULT1A1_ENST00000569554.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000314752.7_Missense_Mutation_p.V126A|SULT1A1_ENST00000395609.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000350842.4_Missense_Mutation_p.V48A	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	126					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGCAACATAGACCACCTGCAG	0.577																																						ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(376-378)gTc>gCc		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							169.0	122.0	138.0					16																	28618394		2197	4300	6497	SO:0001583	missense	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28618394A>G	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.377T>C	16.37:g.28618394A>G	ENSP00000378971:p.Val126Ala					SULT1A1_ENST00000569554.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000314752.7_Missense_Mutation_p.V126A|SULT1A1_ENST00000395607.1_Missense_Mutation_p.V126A|SULT1A1_ENST00000350842.4_Missense_Mutation_p.V48A	p.V126A			P50225	ST1A1_HUMAN			7	1135	-			126					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.377T>C	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	a	14.45	2.537756	0.45176	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	T;T;T;T	0.02472	4.28;4.28;4.28;4.28	2.42	2.42	0.29668	Sulfotransferase domain (1);	1.113020	0.06768	N	0.783058	T	0.10465	0.0256	M	0.83223	2.63	0.26953	N	0.965986	P;P;P	0.50443	0.794;0.935;0.688	P;P;P	0.50440	0.503;0.641;0.519	T	0.20840	-1.0263	10	0.87932	D	0	.	8.7393	0.34547	1.0:0.0:0.0:0.0	.	78;48;126	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	A	126;48;126;126	ENSP00000321988:V126A;ENSP00000329399:V48A;ENSP00000378972:V126A;ENSP00000378971:V126A	ENSP00000321988:V126A	V	-	2	0	SULT1A1	28525895	1.000000	0.71417	0.302000	0.25058	0.439000	0.31926	8.376000	0.90138	1.374000	0.46228	0.254000	0.18369	GTC		0.577	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		14	95	0	0	0	1	0	14	95				
BMP15	9210	broad.mit.edu	37	X	50658862	50658862	+	Missense_Mutation	SNP	G	G	T	rs140319105		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:50658862G>T	ENST00000252677.3	+	2	434	c.434G>T	c.(433-435)cGc>cTc	p.R145L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	145					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAACTAACTCGCTTCAATCTC	0.498																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(433-435)cGc>cTc		bone morphogenetic protein 15							88.0	69.0	75.0					X																	50658862		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50658862G>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.434G>T	X.37:g.50658862G>T	ENSP00000252677:p.Arg145Leu						p.R145L	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	434	+	Ovarian(276;0.236)		145					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.434G>T	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	7.668	0.686415	0.14973	.	.	ENSG00000130385	ENST00000252677	T	0.78481	-1.18	5.42	-7.24	0.01475	.	0.987216	0.08301	N	0.966842	T	0.48409	0.1498	L	0.29908	0.895	0.09310	N	1	P	0.39551	0.678	B	0.27608	0.081	T	0.51092	-0.8749	10	0.11182	T	0.66	.	2.2531	0.04048	0.29:0.2366:0.3558:0.1175	.	145	O95972	BMP15_HUMAN	L	145	ENSP00000252677:R145L	ENSP00000252677:R145L	R	+	2	0	BMP15	50675602	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.580000	0.05827	-1.974000	0.00998	-0.290000	0.09829	CGC		0.498	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		10	68	1	0	0.000673444	1	0.00070858	10	68				
SNAPC2	6618	broad.mit.edu	37	19	7987597	7987597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:7987597C>T	ENST00000221573.6	+	5	1004	c.953C>T	c.(952-954)cCg>cTg	p.P318L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.P81L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	318					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCCCTGAACCCGTTCCTGGTG	0.697																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(952-954)cCg>cTg		small nuclear RNA activating complex, polypeptide 2, 45kDa							71.0	93.0	85.0					19																	7987597		2200	4296	6496	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987597C>T	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.953C>T	19.37:g.7987597C>T	ENSP00000221573:p.Pro318Leu					SNAPC2_ENST00000597584.1_Missense_Mutation_p.P81L	p.P318L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	1004	+			318					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.953C>T	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957306	0.53400	.	.	ENSG00000104976	ENST00000221573	T	0.60797	0.16	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.72118	2.19	0.54753	D	0.999988	D	0.89917	1.0	D	0.75484	0.986	T	0.76299	-0.3010	10	0.87932	D	0	-15.2828	12.7087	0.57078	0.0:1.0:0.0:0.0	.	318	Q13487	SNPC2_HUMAN	L	318	ENSP00000221573:P318L	ENSP00000221573:P318L	P	+	2	0	SNAPC2	7893597	0.975000	0.34042	0.934000	0.37439	0.362000	0.29581	2.682000	0.46934	2.369000	0.80426	0.455000	0.32223	CCG		0.697	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		31	216	0	0	0	1	0	31	216				
ZBTB24	9841	broad.mit.edu	37	6	109787413	109787413	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:109787413C>G	ENST00000230122.3	-	7	1902	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	579					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGGAACTCTCTGCAGTCACA	0.483																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1735-1737)Gag>Cag		zinc finger and BTB domain containing 24							124.0	121.0	122.0					6																	109787413		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787413C>G	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1735G>C	6.37:g.109787413C>G	ENSP00000230122:p.Glu579Gln						p.E579Q	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	1902	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	579					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1735G>C	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862767	0.71949	.	.	ENSG00000112365	ENST00000230122	T	0.10477	2.87	5.76	5.76	0.90799	.	0.227434	0.43416	D	0.000563	T	0.11024	0.0269	L	0.29908	0.895	0.47994	D	0.999564	D	0.57899	0.981	P	0.52109	0.69	T	0.03103	-1.1072	10	0.49607	T	0.09	-31.2702	20.3242	0.98691	0.0:1.0:0.0:0.0	.	579	O43167	ZBT24_HUMAN	Q	579	ENSP00000230122:E579Q	ENSP00000230122:E579Q	E	-	1	0	ZBTB24	109894106	1.000000	0.71417	0.481000	0.27354	0.986000	0.74619	7.294000	0.78760	2.882000	0.98803	0.655000	0.94253	GAG		0.483	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		20	129	0	0	0	1	0	20	129				
ST18	9705	broad.mit.edu	37	8	53045825	53045825	+	Silent	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:53045825C>G	ENST00000276480.7	-	20	3020	c.2337G>C	c.(2335-2337)gtG>gtC	p.V779V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	779					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTTTCCAGTCACGTGCCCCG	0.522																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2335-2337)gtG>gtC		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							98.0	89.0	92.0					8																	53045825		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045825C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2337G>C	8.37:g.53045825C>G							p.V779V	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			20	3020	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	779					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2337G>C	CCDS6149.1																																																																																				0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			16	99	0	0	0	1	0	16	99				
ANAPC1	64682	broad.mit.edu	37	2	112621425	112621425	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:112621425C>T	ENST00000341068.3	-	9	1651	c.879G>A	c.(877-879)caG>caA	p.Q293Q		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	293					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGGCCACATTCTGTGGGGTTC	0.408																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(877-879)caG>caA		anaphase promoting complex subunit 1							35.0	37.0	36.0					2																	112621425		2203	4297	6500	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112621425C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.879G>A	2.37:g.112621425C>T							p.Q293Q	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			9	1651	-			293					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.879G>A	CCDS2093.1																																																																																				0.408	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		9	44	0	0	0	1	0	9	44				
VIM	7431	broad.mit.edu	37	10	17271591	17271591	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr10:17271591C>T	ENST00000224237.5	+	1	315	c.170C>T	c.(169-171)cCg>cTg	p.P57L	VIM-AS1_ENST00000437232.1_RNA|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.P57L|VIM_ENST00000485947.1_3'UTR			P08670	VIME_HUMAN	vimentin	57	Head.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCGTCCCCGGGCGGCGTG	0.731																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(169-171)cCg>cTg		vimentin							10.0	11.0	10.0					10																	17271591		2174	4254	6428	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271591C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.170C>T	10.37:g.17271591C>T	ENSP00000224237:p.Pro57Leu					VIM_ENST00000224237.5_Missense_Mutation_p.P57L|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR	p.P57L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			2	583	+			57			Head.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.170C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907518	0.33721	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.82803	-1.65;-1.65	5.29	4.39	0.52855	Intermediate filament head, DNA-binding domain (1);	0.150173	0.30791	N	0.008877	T	0.80773	0.4687	M	0.74647	2.275	0.80722	D	1	B;P;D;P;B	0.54397	0.021;0.866;0.966;0.92;0.021	B;B;P;B;B	0.44561	0.013;0.216;0.453;0.265;0.013	T	0.78513	-0.2175	10	0.09084	T	0.74	.	11.4735	0.50284	0.0:0.9121:0.0:0.0879	.	57;44;44;57;57	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	L	57;57;44	ENSP00000446007:P57L;ENSP00000224237:P57L	ENSP00000224237:P57L	P	+	2	0	VIM	17311597	0.973000	0.33851	0.766000	0.31476	0.972000	0.66771	2.862000	0.48388	1.229000	0.43630	0.551000	0.68910	CCG		0.731	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		3	15	0	0	0	1	0	3	15				
TUBB4B	10383	broad.mit.edu	37	9	140137763	140137763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:140137763G>A	ENST00000340384.4	+	4	1241	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	365					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	AAAAATGTCCGCCACCTTCAT	0.527																																						ENST00000340384.4																			0											c.(1093-1095)Gcc>Acc		tubulin, beta 4B class IVb							100.0	99.0	100.0					9																	140137763		2203	4299	6502	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137763G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1093G>A	9.37:g.140137763G>A	ENSP00000341289:p.Ala365Thr						p.A365T	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	1241	+			365					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.1093G>A	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103636	0.37145	.	.	ENSG00000188229	ENST00000340384	D	0.85411	-1.98	5.57	4.68	0.58851	.	0.315871	0.28279	N	0.015926	D	0.86108	0.5854	M	0.81179	2.53	0.58432	D	0.999992	B	0.33022	0.394	B	0.34779	0.189	D	0.86396	0.1739	10	0.87932	D	0	.	13.3812	0.60768	0.0765:0.0:0.9235:0.0	.	365	P68371	TBB4B_HUMAN	T	365	ENSP00000341289:A365T	ENSP00000341289:A365T	A	+	1	0	TUBB2C	139257584	1.000000	0.71417	0.871000	0.34182	0.649000	0.38597	5.590000	0.67530	1.357000	0.45904	0.655000	0.94253	GCC		0.527	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		5	313	0	0	0	1	0	5	313				
CLEC17A	388512	broad.mit.edu	37	19	14710549	14710549	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:14710549G>C	ENST00000417570.1	+	11	705	c.667G>C	c.(667-669)Gct>Cct	p.A223P	CLEC17A_ENST00000397439.2_Missense_Mutation_p.A206P|CLEC17A_ENST00000547437.1_Missense_Mutation_p.A223P	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	223						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GGCAGGGCTAGCTGGCCTGAA	0.552																																						ENST00000547437.1																			0											c.(667-669)Gct>Cct		C-type lectin domain family 17, member A							41.0	44.0	43.0					19																	14710549		2047	4205	6252	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710549G>C	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.667G>C	19.37:g.14710549G>C	ENSP00000393719:p.Ala223Pro					CLEC17A_ENST00000417570.1_Missense_Mutation_p.A223P|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A206P	p.A223P	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			11	744	+			223					A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.667G>C	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118858	0.37436	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.64803	-0.12;-0.12;-0.12	3.97	2.94	0.34122	.	0.196745	0.25419	N	0.030803	T	0.65004	0.2650	L	0.34521	1.04	0.18873	N	0.999986	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74674	0.984;0.976;0.942	T	0.53315	-0.8456	10	0.87932	D	0	-18.2897	7.2305	0.26040	0.1224:0.0:0.8776:0.0	.	223;223;223	Q6ZS10-2;Q6ZS10-3;Q6ZS10	.;.;CL17A_HUMAN	P	223;206;223	ENSP00000450065:A223P;ENSP00000380581:A206P;ENSP00000393719:A223P	ENSP00000341620:A223P	A	+	1	0	CLEC17A	14571549	0.996000	0.38824	0.574000	0.28523	0.267000	0.26476	3.259000	0.51515	1.009000	0.39289	0.655000	0.94253	GCT		0.552	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		5	25	0	0	0	1	0	5	25				
SDC4	6385	broad.mit.edu	37	20	43961690	43961690	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:43961690C>T	ENST00000372733.3	-	3	258	c.219G>A	c.(217-219)atG>atA	p.M73I	SDC4_ENST00000537976.1_Start_Codon_SNP_p.M1I	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CAGGGCCGATCATGGAGTCTT	0.502			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(217-219)atG>atA		syndecan 4							192.0	154.0	167.0					20																	43961690		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43961690C>T	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.219G>A	20.37:g.43961690C>T	ENSP00000361818:p.Met73Ile					SDC4_ENST00000537976.1_Start_Codon_SNP_p.M1I	p.M73I	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			3	258	-		Myeloproliferative disorder(115;0.0122)	73					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.219G>A	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.471743	0.01044	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.28895	1.59	4.54	-0.963	0.10330	.	2.183350	0.01156	N	0.006523	T	0.14960	0.0361	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26087	-1.0113	10	0.38643	T	0.18	0.3589	1.107	0.01696	0.3253:0.3538:0.1438:0.1772	.	73	P31431	SDC4_HUMAN	I	73;1	ENSP00000361818:M73I	ENSP00000361818:M73I	M	-	3	0	SDC4	43395104	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.081000	0.11321	-0.231000	0.09825	-1.019000	0.02448	ATG		0.502	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		4	84	0	0	0	1	0	4	84				
PTPN3	5774	broad.mit.edu	37	9	112144691	112144691	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:112144691C>T	ENST00000374541.2	-	24	2523	c.2419G>A	c.(2419-2421)Gtc>Atc	p.V807I	PTPN3_ENST00000262539.3_Missense_Mutation_p.V653I|PTPN3_ENST00000446349.1_Missense_Mutation_p.V631I|PTPN3_ENST00000412145.1_Missense_Mutation_p.V676I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V275I	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	807	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCATGCGACGTACTGGAGA	0.572																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(2026-2028)Gtc>Atc		protein tyrosine phosphatase, non-receptor type 3							228.0	167.0	188.0					9																	112144691		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112144691C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2419G>A	9.37:g.112144691C>T	ENSP00000363667:p.Val807Ile					PTPN3_ENST00000262539.3_Missense_Mutation_p.V653I|PTPN3_ENST00000446349.1_Missense_Mutation_p.V631I|PTPN3_ENST00000374541.2_Missense_Mutation_p.V807I|PTPN3_ENST00000394827.3_Missense_Mutation_p.V275I	p.V676I	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			19	4579	-			807			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.2026G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264347	0.39995	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.24	4.34	0.51931	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.05181	0.0138	N	0.05592	-0.015	0.54753	D	0.999989	P;B;B	0.47350	0.894;0.014;0.005	B;B;B	0.31442	0.13;0.008;0.008	T	0.43228	-0.9404	10	0.11182	T	0.66	.	13.7799	0.63077	0.0:0.9261:0.0:0.0739	.	653;762;807	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	I	807;676;631;807;275;653	ENSP00000416654:V676I;ENSP00000395384:V631I;ENSP00000363667:V807I;ENSP00000378304:V275I;ENSP00000262539:V653I	ENSP00000262539:V653I	V	-	1	0	PTPN3	111184512	1.000000	0.71417	0.315000	0.25238	0.903000	0.53119	7.811000	0.86092	1.202000	0.43218	0.555000	0.69702	GTC		0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			11	70	0	0	0	1	0	11	70				
SERHL2	253190	broad.mit.edu	37	22	42971987	42971987	+	IGR	SNP	T	T	C	rs137064	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:42971987T>C	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)	p.Q59R(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGCTCTTTTTGGCTGCGCTT	0.672													.|||	2207	0.440695	0.6831	0.2277	5008	,	,		16271	0.6845		0.171	False		,,,				2504	0.2904					ENST00000357802.2																			1	Substitution - Missense(1)	p.Q59R(1)	prostate(1)																																														SO:0001628	intergenic_variant	91695							g.chr22:42971987T>C		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971987T>C														0	733	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.672	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	26	0	0	0	1	0	3	26				
LHX1	3975	broad.mit.edu	37	17	35295563	35295563	+	Silent	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:35295563C>T	ENST00000254457.5	+	1	1480	c.69C>T	c.(67-69)gcC>gcT	p.A23A	RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.1_ENST00000525111.1_RNA|RP11-445F12.2_ENST00000607336.1_RNA|RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000532387.2_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	23	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TGGACAGGGCCTGGCACGTCA	0.542																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(67-69)gcC>gcT		LIM homeobox 1							124.0	104.0	110.0					17																	35295563		2203	4300	6503	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35295563C>T	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.69C>T	17.37:g.35295563C>T							p.A23A	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			1	1480	+		Breast(25;0.00607)	23			LIM zinc-binding 1.		Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.69C>T	CCDS11316.1																																																																																				0.542	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		18	98	0	0	0	1	0	18	98				
BCAR1	9564	broad.mit.edu	37	16	75269680	75269680	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:75269680C>T	ENST00000162330.5	-	5	1243	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	BCAR1_ENST00000538440.2_Missense_Mutation_p.D373N|BCAR1_ENST00000542031.2_Missense_Mutation_p.D371N|BCAR1_ENST00000393420.6_Missense_Mutation_p.D391N|BCAR1_ENST00000393422.2_Missense_Mutation_p.D391N|BCAR1_ENST00000535626.2_Missense_Mutation_p.D225N|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000546196.1_Missense_Mutation_p.D344N|BCAR1_ENST00000420641.3_Missense_Mutation_p.D391N|BCAR1_ENST00000418647.3_Missense_Mutation_p.D419N	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	373	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGGGCACGTCGTAGAGGTCA	0.716																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(1030-1032)Gac>Aac		breast cancer anti-estrogen resistance 1							15.0	19.0	18.0					16																	75269680		2189	4296	6485	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75269680C>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1117G>A	16.37:g.75269680C>T	ENSP00000162330:p.Asp373Asn					BCAR1_ENST00000418647.3_Missense_Mutation_p.D419N|BCAR1_ENST00000542031.2_Missense_Mutation_p.D371N|BCAR1_ENST00000538440.2_Missense_Mutation_p.D373N|BCAR1_ENST00000535626.2_Missense_Mutation_p.D225N|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Missense_Mutation_p.D391N|BCAR1_ENST00000393422.2_Missense_Mutation_p.D391N|BCAR1_ENST00000162330.5_Missense_Mutation_p.D373N|BCAR1_ENST00000420641.3_Missense_Mutation_p.D391N	p.D344N			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	2682	-			373			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.1030G>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666615	0.67814	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.40225	1.04;1.57;1.35;1.16;1.34;1.05;1.15;1.05;2.86	4.29	4.29	0.51040	.	0.060180	0.64402	D	0.000009	T	0.61375	0.2342	M	0.76727	2.345	0.46011	D	0.998816	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.80764	0.981;0.992;0.981;0.992;0.994;0.777;0.992;0.981;0.981	T	0.59392	-0.7463	10	0.21014	T	0.42	-15.0083	14.6608	0.68870	0.0:1.0:0.0:0.0	.	391;225;419;371;391;391;373;373;163	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	N	373;391;391;373;419;225;391;371;344	ENSP00000162330:D373N;ENSP00000377074:D391N;ENSP00000392708:D391N;ENSP00000443841:D373N;ENSP00000391669:D419N;ENSP00000440370:D225N;ENSP00000377072:D391N;ENSP00000440415:D371N;ENSP00000442161:D344N	ENSP00000162330:D373N	D	-	1	0	BCAR1	73827181	1.000000	0.71417	0.429000	0.26710	0.621000	0.37620	7.312000	0.78968	2.118000	0.64928	0.558000	0.71614	GAC		0.716	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		3	40	0	0	0	1	0	3	40				
PCDHA7	56141	broad.mit.edu	37	5	140214188	140214188	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr5:140214188C>G	ENST00000525929.1	+	1	220	c.220C>G	c.(220-222)Ctt>Gtt	p.L74V	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L74V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGGGGATCTTCTGGAGGT	0.622																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(220-222)Ctt>Gtt									108.0	127.0	121.0					5																	140214188		2203	4300	6503	SO:0001583	missense	56141							g.chr5:140214188C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.220C>G	5.37:g.140214188C>G	ENSP00000436426:p.Leu74Val					PCDHA7_ENST00000378125.3_Missense_Mutation_p.L74V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.L74V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	220	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.220C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550550	0.45383	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.28255	1.62;1.62	4.17	2.99	0.34606	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	1.737880	0.05021	U	0.472826	T	0.50973	0.1647	M	0.86178	2.8	0.20074	N	0.999937	P;B	0.40534	0.72;0.091	P;B	0.52793	0.709;0.068	T	0.46748	-0.9169	10	0.66056	D	0.02	.	2.6964	0.05136	0.3383:0.4098:0.0:0.2519	.	74;74	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	74	ENSP00000436426:L74V;ENSP00000367365:L74V	ENSP00000367365:L74V	L	+	1	0	PCDHA7	140194372	0.000000	0.05858	1.000000	0.80357	0.690000	0.40134	0.174000	0.16743	2.028000	0.59812	0.449000	0.29647	CTT		0.622	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		52	320	0	0	0	1	0	52	320				
EMILIN3	90187	broad.mit.edu	37	20	39991121	39991121	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr20:39991121C>T	ENST00000332312.3	-	4	1280	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	363						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CAGCTCCTGGCGCAGGGCCAG	0.667																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1087-1089)cGc>cAc		elastin microfibril interfacer 3							13.0	15.0	14.0					20																	39991121		2201	4291	6492	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991121C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1088G>A	20.37:g.39991121C>T	ENSP00000332806:p.Arg363His						p.R363H	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1280	-		Myeloproliferative disorder(115;0.00425)	363					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.1088G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491584	0.64074	.	.	ENSG00000183798	ENST00000332312	T	0.27402	1.67	5.14	4.09	0.47781	.	0.182769	0.42682	D	0.000673	T	0.44095	0.1277	M	0.64997	1.995	0.39687	D	0.970981	D	0.89917	1.0	D	0.64410	0.925	T	0.40136	-0.9579	9	.	.	.	-20.1125	6.113	0.20112	0.0:0.7673:0.0:0.2327	.	363	Q9NT22	EMIL3_HUMAN	H	363	ENSP00000332806:R363H	.	R	-	2	0	EMILIN3	39424535	0.998000	0.40836	1.000000	0.80357	0.897000	0.52465	1.786000	0.38694	2.402000	0.81655	0.561000	0.74099	CGC		0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		7	31	0	0	0	1	0	7	31				
KCNA4	3739	broad.mit.edu	37	11	30032364	30032364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr11:30032364G>A	ENST00000328224.6	-	2	3095	c.1862C>T	c.(1861-1863)tCt>tTt	p.S621F	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	621					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TGCACACAGAGATTCCTTAAC	0.453																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1861-1863)tCt>tTt		potassium voltage-gated channel, shaker-related subfamily, member 4							127.0	127.0	127.0					11																	30032364		1933	4139	6072	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032364G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1862C>T	11.37:g.30032364G>A	ENSP00000328511:p.Ser621Phe						p.S621F	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	3095	-			621						Missense_Mutation	SNP	ENST00000328224.6	37	c.1862C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070020	0.55539	.	.	ENSG00000182255	ENST00000328224	D	0.97114	-4.25	5.7	5.7	0.88788	.	0.538181	0.17025	N	0.189958	D	0.96390	0.8822	L	0.61218	1.895	0.80722	D	1	B	0.15719	0.014	B	0.20384	0.029	D	0.93136	0.6537	10	0.72032	D	0.01	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	621	P22459	KCNA4_HUMAN	F	621	ENSP00000328511:S621F	ENSP00000328511:S621F	S	-	2	0	KCNA4	29988940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.683000	0.91414	0.655000	0.94253	TCT		0.453	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		11	93	0	0	0	1	0	11	93				
PI15	51050	broad.mit.edu	37	8	75757695	75757695	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:75757695C>G	ENST00000260113.2	+	5	783	c.604C>G	c.(604-606)Cga>Gga	p.R202G	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R202G|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	202	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATCTGTGTGGCGACGTGCAGT	0.423																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(604-606)Cga>Gga		peptidase inhibitor 15							165.0	144.0	151.0					8																	75757695		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75757695C>G	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.604C>G	8.37:g.75757695C>G	ENSP00000260113:p.Arg202Gly					RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R202G|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	p.R202G	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		5	783	+	Breast(64;0.137)		202					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.604C>G	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207939	0.39003	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09350	2.99;2.99	5.41	2.51	0.30379	CAP domain (3);	0.194107	0.43416	D	0.000568	T	0.13200	0.0320	L	0.31664	0.95	0.48571	D	0.999679	P	0.49696	0.927	P	0.50791	0.65	T	0.02238	-1.1190	10	0.33141	T	0.24	.	14.029	0.64604	0.5254:0.4746:0.0:0.0	.	202	O43692	PI15_HUMAN	G	202	ENSP00000260113:R202G;ENSP00000428567:R202G	ENSP00000260113:R202G	R	+	1	2	PI15	75920250	1.000000	0.71417	0.991000	0.47740	0.542000	0.35054	1.411000	0.34702	0.344000	0.23847	-0.321000	0.08615	CGA		0.423	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		10	85	0	0	0	1	0	10	85				
THOC2	57187	broad.mit.edu	37	X	122805561	122805561	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:122805561G>C	ENST00000245838.8	-	9	851	c.820C>G	c.(820-822)Cta>Gta	p.L274V	THOC2_ENST00000491737.1_Missense_Mutation_p.L159V|THOC2_ENST00000355725.4_Missense_Mutation_p.L274V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	274					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTAAATTGTAGAAGTACTGCT	0.353																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(820-822)Cta>Gta		THO complex 2							99.0	93.0	94.0					X																	122805561		1853	4084	5937	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122805561G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.820C>G	X.37:g.122805561G>C	ENSP00000245838:p.Leu274Val					THOC2_ENST00000355725.4_Missense_Mutation_p.L274V|THOC2_ENST00000491737.1_Missense_Mutation_p.L159V	p.L274V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			9	851	-			274					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.820C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541150	0.65085	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.62	4.75	0.60458	.	0.125717	0.34750	N	0.003714	T	0.50633	0.1627	L	0.48174	1.505	0.80722	D	1	D;P	0.53312	0.959;0.879	B;P	0.52031	0.425;0.688	T	0.52793	-0.8528	9	0.49607	T	0.09	-2.4164	3.7713	0.08643	0.211:0.0:0.5835:0.2054	.	195;274	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	274;274;159;195	.	ENSP00000245838:L274V	L	-	1	2	THOC2	122633242	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	4.281000	0.58965	1.124000	0.41980	0.600000	0.82982	CTA		0.353	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			15	72	0	0	0	1	0	15	72				
LRG1	116844	broad.mit.edu	37	19	4538218	4538218	+	Missense_Mutation	SNP	G	G	A	rs150365846	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:4538218G>A	ENST00000306390.6	-	2	1238	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	PLIN5_ENST00000586133.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000381848.3_5'Flank|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	260					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTGCCGCAGGCCCTGG	0.642													G|||	3	0.000599042	0.0	0.0029	5008	,	,		17225	0.0		0.001	False		,,,				2504	0.0					ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(778-780)Cgg>Tgg		leucine-rich alpha-2-glycoprotein 1		G	TRP/ARG	2,4404		0,2,2201	96.0	104.0	101.0		778	-5.0	0.0	19	dbSNP_134	101	7,8593		0,7,4293	yes	missense	LRG1	NM_052972.2	101	0,9,6494	AA,AG,GG		0.0814,0.0454,0.0692	probably-damaging	260/348	4538218	9,12997	2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538218G>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.778C>T	19.37:g.4538218G>A	ENSP00000302621:p.Arg260Trp					CTB-50L17.14_ENST00000586020.1_Intron	p.R260W	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1238	-		Hepatocellular(1079;0.137)	260					Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.778C>T	CCDS12130.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	.	24.7	4.562931	0.86335	4.54E-4	8.14E-4	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.60171	0.21	5.24	-5.04	0.02964	.	1.273420	0.05821	N	0.615731	T	0.62417	0.2426	M	0.80332	2.49	0.09310	N	1	D	0.76494	0.999	P	0.56612	0.802	T	0.69412	-0.5152	10	0.66056	D	0.02	-18.896	11.8902	0.52624	0.0:0.107:0.1902:0.7028	.	260	P02750	A2GL_HUMAN	W	260;243	ENSP00000302621:R260W	ENSP00000302621:R260W	R	-	1	2	LRG1	4489218	0.000000	0.05858	0.000000	0.03702	0.651000	0.38670	-1.023000	0.03607	-0.224000	0.09928	0.655000	0.94253	CGG		0.642	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		5	297	0	0	0	1	0	5	297				
NPHS2	7827	broad.mit.edu	37	1	179523631	179523631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:179523631G>C	ENST00000367615.4	-	6	842	c.774C>G	c.(772-774)atC>atG	p.I258M	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.I190M	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	258					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTCCACTTTGATTCCCCAAA	0.393																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(772-774)atC>atG		nephrosis 2, idiopathic, steroid-resistant (podocin)							135.0	137.0	136.0					1																	179523631		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179523631G>C	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.774C>G	1.37:g.179523631G>C	ENSP00000356587:p.Ile258Met					AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.I190M	p.I258M	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			6	842	-			258					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.774C>G	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329502	0.60743	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.96041	-3.89;-3.54	5.4	4.49	0.54785	Band 7/stomatin-like, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	M	0.77820	2.39	0.26935	N	0.966371	D;D	0.76494	0.999;0.994	D;D	0.83275	0.996;0.966	D	0.93194	0.6586	10	0.87932	D	0	-20.0367	13.0769	0.59091	0.0785:0.0:0.9215:0.0	.	190;258	Q9NP85-2;Q9NP85	.;PODO_HUMAN	M	258;190	ENSP00000356587:I258M;ENSP00000356588:I190M	ENSP00000356587:I258M	I	-	3	3	NPHS2	177790254	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.650000	0.54424	1.283000	0.44513	-0.216000	0.12614	ATC		0.393	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			17	91	0	0	0	1	0	17	91				
C16orf59	80178	broad.mit.edu	37	16	2510989	2510989	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2510989G>A	ENST00000361837.4	+	4	434	c.369G>A	c.(367-369)ccG>ccA	p.P123P	C16orf59_ENST00000569496.1_Silent_p.P123P|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.P123P|RP11-715J22.4_ENST00000566085.1_lincRNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	123										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCGCCCCACCGCATTCCCCAG	0.642																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(367-369)ccG>ccA		chromosome 16 open reading frame 59							52.0	61.0	58.0					16																	2510989		2085	4201	6286	SO:0001819	synonymous_variant	80178							g.chr16:2510989G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.369G>A	16.37:g.2510989G>A						C16orf59_ENST00000361837.4_Silent_p.P123P|C16orf59_ENST00000563531.1_Silent_p.P123P|C16orf59_ENST00000483320.1_5'UTR	p.P123P			Q7L2K0	CP059_HUMAN			4	428	+		Ovarian(90;0.17)	123					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.369G>A	CCDS10468.2																																																																																				0.642	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		4	85	0	0	0	1	0	4	85				
USP32	84669	broad.mit.edu	37	17	58289457	58289457	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:58289457G>A	ENST00000300896.4	-	19	2301	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	USP32_ENST00000592339.1_Missense_Mutation_p.R373C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	703					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTGTTGCGAACTGGAAGG	0.308																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(2107-2109)Cgc>Tgc		ubiquitin specific peptidase 32							82.0	83.0	82.0					17																	58289457		2203	4297	6500	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58289457G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2107C>T	17.37:g.58289457G>A	ENSP00000300896:p.Arg703Cys					USP32_ENST00000592339.1_Missense_Mutation_p.R373C	p.R703C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		19	2301	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		703					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.2107C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950979	0.73787	.	.	ENSG00000170832	ENST00000300896	T	0.54675	0.56	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	T	0.64368	-0.6424	10	0.87932	D	0	.	13.4873	0.61373	0.0:0.0:0.8437:0.1563	.	703	Q8NFA0	UBP32_HUMAN	C	703	ENSP00000300896:R703C	ENSP00000300896:R703C	R	-	1	0	USP32	55644239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.202000	0.58446	2.438000	0.82558	0.655000	0.94253	CGC		0.308	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		17	62	0	0	0	1	0	17	62				
SRRM2	23524	broad.mit.edu	37	16	2818013	2818013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:2818013C>G	ENST00000301740.8	+	11	8033	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2495	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCATGCTCTCTGTCCCTGCC	0.627																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7483-7485)tCt>tGt		serine/arginine repetitive matrix 2							93.0	84.0	87.0					16																	2818013		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818013C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7484C>G	16.37:g.2818013C>G	ENSP00000301740:p.Ser2495Cys					SRRM2_ENST00000574593.1_3'UTR	p.S2495C	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	8033	+			2495			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7484C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645791	0.47258	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.79141	-1.24	5.91	5.91	0.95273	.	0.202142	0.35772	N	0.002992	T	0.71134	0.3304	N	0.19112	0.55	0.31986	N	0.605236	P	0.52170	0.951	P	0.47206	0.541	T	0.76727	-0.2853	10	0.51188	T	0.08	-4.3001	15.8054	0.78501	0.0:1.0:0.0:0.0	.	2495	Q9UQ35	SRRM2_HUMAN	C	2495;2077;1747	ENSP00000301740:S2495C	ENSP00000301740:S2495C	S	+	2	0	SRRM2	2758014	0.993000	0.37304	0.973000	0.42090	0.959000	0.62525	1.132000	0.31418	2.808000	0.96608	0.655000	0.94253	TCT		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			11	72	0	0	0	1	0	11	72				
CTRL	1506	broad.mit.edu	37	16	67963886	67963886	+	Missense_Mutation	SNP	C	C	G	rs574631910		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr16:67963886C>G	ENST00000574481.1	-	7	1307	c.746G>C	c.(745-747)cGa>cCa	p.R249P	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	249	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTTGCTAACTCGAGTATACAC	0.542																																						ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(745-747)cGa>cCa		chymotrypsin-like							149.0	141.0	143.0					16																	67963886		2198	4300	6498	SO:0001583	missense	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963886C>G		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.746G>C	16.37:g.67963886C>G	ENSP00000458537:p.Arg249Pro						p.R249P	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1307	-		Ovarian(137;0.192)	249			Peptidase S1.			Missense_Mutation	SNP	ENST00000574481.1	37	c.746G>C	CCDS10852.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683794	0.47991	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.74	0.0879	0.14452	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.554684	0.19945	N	0.102555	T	0.80618	0.4657	H	0.95004	3.61	0.45464	D	0.998439	D	0.89917	1.0	D	0.97110	1.0	T	0.78568	-0.2154	9	0.87932	D	0	-1.9165	6.9927	0.24763	0.0:0.6217:0.1131:0.2652	.	249	P40313	CTRL_HUMAN	P	249	.	ENSP00000322629:R249P	R	-	2	0	CTRL	66521387	0.101000	0.21875	0.000000	0.03702	0.194000	0.23727	0.711000	0.25764	0.069000	0.16605	0.491000	0.48974	CGA		0.542	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			6	127	0	0	0	1	0	6	127				
NBPF18P	441908	broad.mit.edu	37	1	151993809	151993809	+	RNA	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:151993809C>G	ENST00000432386.1	+	0	2644					NR_103561.1				neuroblastoma breakpoint family, member 18, pseudogene																		CTGAGAGCAGCTGGCTGAGGG	0.582																																						ENST00000432386.1																			0																																																			441908							g.chr1:151993809C>G			1q21.3	2013-01-17	2011-04-15			ENSG00000229021		"""neuroblastoma breakpoint family"""	31998	pseudogene	pseudogene						16079250	Standard	NR_103561		Approved						1.37:g.151993809C>G								NR_103561.1						0	2644	+									RNA	SNP	ENST00000432386.1	37																																																																																						0.582	NBPF18P-001	KNOWN	basic	antisense	antisense	OTTHUMT00000036629.1			3	44	0	0	0	1	0	3	44				
SPTBN4	57731	broad.mit.edu	37	19	41008367	41008367	+	Missense_Mutation	SNP	C	C	T	rs370786781		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:41008367C>T	ENST00000352632.3	+	10	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R386C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R386C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R386C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R386C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	386					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCAACCGTCGCCTCTTTGT	0.607																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1156-1158)Cgc>Tgc		spectrin, beta, non-erythrocytic 4							74.0	76.0	75.0					19																	41008367		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008367C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1156C>T	19.37:g.41008367C>T	ENSP00000263373:p.Arg386Cys					SPTBN4_ENST00000338932.3_Missense_Mutation_p.R386C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R386C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R386C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R386C	p.R386C			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	1242	+			386					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1156C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891573	0.72524	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.50277	0.75;0.75;0.75	3.54	3.54	0.40534	.	0.266086	0.26553	U	0.023732	T	0.59582	0.2204	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.947;0.967	T	0.61840	-0.6980	10	0.87932	D	0	.	8.729	0.34487	0.3471:0.6529:0.0:0.0	.	386;386	Q9H254;Q71S06	SPTN4_HUMAN;.	C	386	ENSP00000263373:R386C;ENSP00000340345:R386C;ENSP00000340741:R386C	ENSP00000340345:R386C	R	+	1	0	SPTBN4	45700207	0.129000	0.22400	0.996000	0.52242	0.857000	0.48899	1.928000	0.40104	2.283000	0.76528	0.563000	0.77884	CGC		0.607	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			25	126	0	0	0	1	0	25	126				
KIAA1549	57670	broad.mit.edu	37	7	138579166	138579166	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:138579166G>A	ENST00000422774.1	-	10	4002	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	KIAA1549_ENST00000440172.1_Silent_p.I1318I|KIAA1549_ENST00000242365.4_Silent_p.I1268I			Q9HCM3	K1549_HUMAN	KIAA1549	1318						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCCAGTAGAGGATGACAACAA	0.547			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3952-3954)atC>atT		KIAA1549							161.0	156.0	158.0					7																	138579166		2148	4244	6392	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138579166G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3954C>T	7.37:g.138579166G>A						KIAA1549_ENST00000242365.4_Silent_p.I1268I|KIAA1549_ENST00000422774.1_Silent_p.I1318I	p.I1318I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			10	4002	-			1318					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.3954C>T	CCDS56513.1																																																																																				0.547	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			19	117	0	0	0	1	0	19	117				
EDA	1896	broad.mit.edu	37	X	69255284	69255284	+	Missense_Mutation	SNP	G	G	T	rs142948132		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:69255284G>T	ENST00000374552.4	+	8	1243	c.1001G>T	c.(1000-1002)cGc>cTc	p.R334L	EDA_ENST00000374553.2_Missense_Mutation_p.R332L|EDA_ENST00000524573.1_Missense_Mutation_p.R329L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	334			R -> H (in STHAGX1). {ECO:0000269|PubMed:19278982}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CAGTGCACACGCAGCATCGAG	0.552																																						ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1000-1002)cGc>cTc		ectodysplasin A							108.0	68.0	82.0					X																	69255284		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69255284G>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.1001G>T	X.37:g.69255284G>T	ENSP00000363680:p.Arg334Leu					EDA_ENST00000374553.2_Missense_Mutation_p.R332L|EDA_ENST00000524573.1_Missense_Mutation_p.R329L	p.R334L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			8	1243	+			334					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.1001G>T	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125100	0.77436	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.95238	-3.65;-3.65;-3.65	5.55	5.55	0.83447	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.138531	0.50627	D	0.000113	D	0.94149	0.8123	L	0.34521	1.04	0.80722	D	1	D;D;D	0.59767	0.982;0.986;0.982	P;P;P	0.54664	0.645;0.758;0.645	D	0.94649	0.7837	10	0.56958	D	0.05	-10.9697	17.3658	0.87363	0.0:0.0:1.0:0.0	.	329;334;332	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	L	334;332;329	ENSP00000363680:R334L;ENSP00000363681:R332L;ENSP00000432585:R329L	ENSP00000363680:R334L	R	+	2	0	EDA	69172009	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	9.125000	0.94402	2.314000	0.78098	0.600000	0.82982	CGC		0.552	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		5	38	1	0	0.000602214	1	0.000639192	5	38				
ZNF586	54807	broad.mit.edu	37	19	58290798	58290798	+	Silent	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:58290798G>A	ENST00000396154.2	+	3	1016	c.843G>A	c.(841-843)caG>caA	p.Q281Q	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Silent_p.Q238Q|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCAGCATCAGAGAGTTCACA	0.433																																						ENST00000391702.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(712-714)caG>caA		zinc finger protein 586							58.0	62.0	61.0					19																	58290798		2200	4299	6499	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290798G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.843G>A	19.37:g.58290798G>A						ZNF586_ENST00000396154.2_Silent_p.Q281Q|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR	p.Q238Q	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1081	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	281					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	ENST00000396154.2	37	c.714G>A	CCDS42640.1																																																																																				0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		13	94	0	0	0	1	0	13	94				
RAD52	5893	broad.mit.edu	37	12	1042191	1042191	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr12:1042191G>A	ENST00000358495.3	-	2	172	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C	RAD52_ENST00000545564.1_Missense_Mutation_p.R12C|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Missense_Mutation_p.R12C|RAD52_ENST00000541619.1_Missense_Mutation_p.R12C|RAD52_ENST00000430095.2_Missense_Mutation_p.R12C|RAD52_ENST00000544742.1_Missense_Mutation_p.R12C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	12					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TGGCTGTCACGTCCTCCAAGA	0.448								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(34-36)Cgt>Tgt	Homologous recombination	RAD52 homolog (S. cerevisiae)							206.0	207.0	207.0					12																	1042191		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1042191G>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.34C>T	12.37:g.1042191G>A	ENSP00000351284:p.Arg12Cys					RAD52_ENST00000541619.1_Missense_Mutation_p.R12C|RAD52_ENST00000430095.2_Missense_Mutation_p.R12C|RAD52_ENST00000544742.1_Missense_Mutation_p.R12C|RAD52_ENST00000545564.1_Missense_Mutation_p.R12C|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Missense_Mutation_p.R12C	p.R12C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		2	172	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		12					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.34C>T	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029711	0.19512	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000536177;ENST00000545564;ENST00000542785;ENST00000397230;ENST00000544742;ENST00000541619	T;T;T;T;T;T;T;T	0.48201	1.94;1.94;1.48;0.82;0.93;0.88;0.88;0.88	4.7	0.46	0.16684	.	1.392100	0.04320	N	0.350627	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;B	0.19935	0.025;0.04;0.014	B;B;B	0.08055	0.003;0.002;0.002	T	0.17289	-1.0374	10	0.49607	T	0.09	-15.4064	3.2355	0.06763	0.0968:0.3249:0.4114:0.1669	.	12;12;12	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	C	12	ENSP00000351284:R12C;ENSP00000387901:R12C;ENSP00000440486:R12C;ENSP00000440268:R12C;ENSP00000441073:R12C;ENSP00000380407:R12C;ENSP00000443254:R12C;ENSP00000438965:R12C	ENSP00000351284:R12C	R	-	1	0	RAD52	912452	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.219000	0.32479	-0.127000	0.11661	-0.310000	0.09108	CGT		0.448	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		5	390	0	0	0	1	0	5	390				
TEP1	7011	broad.mit.edu	37	14	20872897	20872897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr14:20872897C>T	ENST00000262715.5	-	5	945	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	302	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGCCACATTCCGGACGTTCAG	0.537																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(904-906)cGg>cAg		telomerase-associated protein 1							69.0	64.0	65.0					14																	20872897		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20872897C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.905G>A	14.37:g.20872897C>T	ENSP00000262715:p.Arg302Gln					TEP1_ENST00000556935.1_Intron	p.R302Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	5	945	-	all_cancers(95;0.00123)	all_lung(585;0.235)	302			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.905G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186168	0.94885	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.18502	2.21	5.55	5.55	0.83447	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51896	-0.8647	10	0.87932	D	0	-31.878	18.4386	0.90656	0.0:1.0:0.0:0.0	.	302	Q99973	TEP1_HUMAN	Q	302	ENSP00000262715:R302Q	ENSP00000262715:R302Q	R	-	2	0	TEP1	19942737	1.000000	0.71417	0.241000	0.24154	0.678000	0.39670	5.801000	0.69115	2.894000	0.99253	0.655000	0.94253	CGG		0.537	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	95	0	0	0	1	0	4	95				
VCAM1	7412	broad.mit.edu	37	1	101188642	101188642	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:101188642A>G	ENST00000294728.2	+	3	508	c.407A>G	c.(406-408)aAg>aGg	p.K136R	VCAM1_ENST00000370115.1_Missense_Mutation_p.K136R|VCAM1_ENST00000347652.2_Missense_Mutation_p.K136R|VCAM1_ENST00000370119.4_Missense_Mutation_p.K74R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	136	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATCACAGTCAAGTGTTCAGTT	0.458																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(406-408)aAg>aGg		vascular cell adhesion molecule 1	Carvedilol(DB01136)						76.0	75.0	75.0					1																	101188642		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188642A>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.407A>G	1.37:g.101188642A>G	ENSP00000294728:p.Lys136Arg					VCAM1_ENST00000370115.1_Missense_Mutation_p.K136R|VCAM1_ENST00000347652.2_Missense_Mutation_p.K136R|VCAM1_ENST00000370119.4_Missense_Mutation_p.K74R	p.K136R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	508	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	136			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.407A>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256721	0.22965	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.63	1.12	0.20585	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.440987	0.27270	N	0.020125	T	0.05181	0.0138	L	0.41236	1.265	0.09310	N	1	B;P;B	0.43412	0.004;0.806;0.005	B;B;B	0.40782	0.012;0.34;0.012	T	0.27191	-1.0081	10	0.15499	T	0.54	-0.3406	2.0396	0.03547	0.4128:0.2692:0.2169:0.1011	.	74;136;136	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	R	74;136;136;136	ENSP00000359137:K74R;ENSP00000304611:K136R;ENSP00000294728:K136R;ENSP00000359133:K136R	ENSP00000294728:K136R	K	+	2	0	VCAM1	100961230	0.001000	0.12720	0.002000	0.10522	0.410000	0.31052	-0.393000	0.07305	-0.006000	0.14370	0.482000	0.46254	AAG		0.458	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		5	50	0	0	0	1	0	5	50				
TARDBP	23435	broad.mit.edu	37	1	11078818	11078818	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:11078818C>G	ENST00000240185.3	+	4	545	c.431C>G	c.(430-432)tCa>tGa	p.S144*	TARDBP_ENST00000439080.2_Nonsense_Mutation_p.S28*|TARDBP_ENST00000315091.3_Nonsense_Mutation_p.S144*	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	144	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		ACTGGTCATTCAAAGGGGTTT	0.388																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(430-432)tCa>tGa		TAR DNA binding protein							177.0	170.0	172.0					1																	11078818		2203	4300	6503	SO:0001587	stop_gained	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11078818C>G	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.431C>G	1.37:g.11078818C>G	ENSP00000240185:p.Ser144*					TARDBP_ENST00000315091.3_Nonsense_Mutation_p.S144*|TARDBP_ENST00000439080.2_Nonsense_Mutation_p.S28*	p.S144*	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	4	545	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	144			RRM 1.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Nonsense_Mutation	SNP	ENST00000240185.3	37	c.431C>G	CCDS122.1	.	.	.	.	.	.	.	.	.	.	C	37	6.493528	0.97612	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8939	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	144;28;144	.	ENSP00000240185:S144X	S	+	2	0	TARDBP	11001405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.746000	0.94184	0.655000	0.94253	TCA		0.388	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		19	151	0	0	0	1	0	19	151				
BCL9	607	broad.mit.edu	37	1	147090824	147090824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:147090824C>T	ENST00000234739.3	+	8	1603	c.863C>T	c.(862-864)tCt>tTt	p.S288F		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	288	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGATTCCTTCTGTAGGAAGT	0.617			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(862-864)tCt>tTt		B-cell CLL/lymphoma 9							54.0	53.0	53.0					1																	147090824		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090824C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.863C>T	1.37:g.147090824C>T	ENSP00000234739:p.Ser288Phe						p.S288F	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1603	+	all_hematologic(923;0.115)		288			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.863C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671815	0.47781	.	.	ENSG00000116128	ENST00000234739	T	0.66638	-0.22	5.65	4.71	0.59529	.	0.517115	0.21884	N	0.067695	T	0.39384	0.1076	L	0.29908	0.895	0.27338	N	0.956596	B;B	0.29805	0.257;0.257	B;B	0.25614	0.062;0.062	T	0.40924	-0.9537	10	0.52906	T	0.07	-0.2305	16.5346	0.84369	0.0:0.8694:0.1306:0.0	.	288;288	Q1JQ81;O00512	.;BCL9_HUMAN	F	288	ENSP00000234739:S288F	ENSP00000234739:S288F	S	+	2	0	BCL9	145557448	0.817000	0.29147	0.032000	0.17829	0.979000	0.70002	3.829000	0.55760	1.565000	0.49641	0.655000	0.94253	TCT		0.617	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		10	97	0	0	0	1	0	10	97				
DMXL2	23312	broad.mit.edu	37	15	51791379	51791379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:51791379G>A	ENST00000251076.5	-	18	4329	c.4042C>T	c.(4042-4044)Cat>Tat	p.H1348Y	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.H1348Y|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1348						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAGTTGGATGATATTGTGGA	0.388																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(4042-4044)Cat>Tat		Dmx-like 2							79.0	76.0	77.0					15																	51791379		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791379G>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4042C>T	15.37:g.51791379G>A	ENSP00000251076:p.His1348Tyr					DMXL2_ENST00000543779.2_Missense_Mutation_p.H1348Y|DMXL2_ENST00000449909.3_Intron	p.H1348Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4329	-			1348					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.4042C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951301	0.73787	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.49432	0.78;0.78	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.977	T	0.78858	-0.2038	10	0.87932	D	0	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	1348;1348	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	Y	1348	ENSP00000251076:H1348Y;ENSP00000441858:H1348Y	ENSP00000251076:H1348Y	H	-	1	0	DMXL2	49578671	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.669000	0.90835	0.591000	0.81541	CAT		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		22	75	0	0	0	1	0	22	75				
GSDMD	79792	broad.mit.edu	37	8	144644852	144644852	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:144644852G>C	ENST00000526406.1	+	14	2116	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	GSDMD_ENST00000533063.1_Missense_Mutation_p.Q459H|GSDMD_ENST00000262580.4_Missense_Mutation_p.Q411H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	411				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTTGGAGCAGAGTGCCCCGT	0.662																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1231-1233)caG>caC		gasdermin D							23.0	26.0	25.0					8																	144644852		2193	4298	6491	SO:0001583	missense	79792							g.chr8:144644852G>C	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1233G>C	8.37:g.144644852G>C	ENSP00000433209:p.Gln411His					GSDMD_ENST00000262580.4_Missense_Mutation_p.Q411H|GSDMD_ENST00000533063.1_Missense_Mutation_p.Q459H	p.Q411H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			14	2116	+			411	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.1233G>C	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.11|17.11	3.306627|3.306627	0.60305|0.60305	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	T;T;T|.	0.27557|.	1.66;1.66;1.66|.	4.9|4.9	2.11|2.11	0.27256|0.27256	.|.	0.189229|.	0.37530|.	N|.	0.002047|.	T|T	0.50222|0.50222	0.1603|0.1603	M|M	0.65975|0.65975	2.015|2.015	0.29705|0.29705	N|N	0.83982|0.83982	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	D;D;D|.	0.66847|.	0.947;0.947;0.912|.	T|T	0.48456|0.48456	-0.9034|-0.9034	10|5	0.59425|.	D|.	0.04|.	-29.3513|-29.3513	7.248|7.248	0.26133|0.26133	0.2901:0.0:0.7099:0.0|0.2901:0.0:0.7099:0.0	.|.	411;411;459|.	A8K702;P57764;G3V1A6|.	.;GSDMD_HUMAN;.|.	H|T	411;459;411|104	ENSP00000433209:Q411H;ENSP00000433958:Q459H;ENSP00000262580:Q411H|.	ENSP00000262580:Q411H|.	Q|R	+|+	3|2	2|0	GSDMD|GSDMD	144715995|144715995	0.034000|0.034000	0.19679|0.19679	0.103000|0.103000	0.21229|0.21229	0.328000|0.328000	0.28507|0.28507	1.306000|1.306000	0.33505|0.33505	0.334000|0.334000	0.23590|0.23590	0.643000|0.643000	0.83706|0.83706	CAG|AGA		0.662	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		4	23	0	0	0	1	0	4	23				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	35	0	0	0	1	0	3	35				
HERC2	8924	broad.mit.edu	37	15	28389948	28389948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr15:28389948G>A	ENST00000261609.7	-	72	11119	c.11011C>T	c.(11011-11013)Cga>Tga	p.R3671*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GACCACTCTCGGCCTGCGGGA	0.562																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11011-11013)Cga>Tga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							61.0	52.0	55.0					15																	28389948		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389948G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11011C>T	15.37:g.28389948G>A	ENSP00000261609:p.Arg3671*						p.R3671*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	72	11119	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3671						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.11011C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	53	20.708177	0.99933	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.3	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3731	0.44066	0.0703:0.0:0.7949:0.1348	.	.	.	.	X	3671	.	ENSP00000261609:R3671X	R	-	1	2	HERC2	26063543	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	6.256000	0.72473	0.701000	0.31803	0.655000	0.94253	CGA		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	44	0	0	0	1	0	9	44				
PCDH19	57526	broad.mit.edu	37	X	99663451	99663451	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chrX:99663451C>T	ENST00000373034.4	-	1	1820	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDH19_ENST00000255531.7_Missense_Mutation_p.A49T|PCDH19_ENST00000420881.2_Missense_Mutation_p.A49T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGAAGCCCGCCTCTCGCGCG	0.637																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(145-147)Gcg>Acg		protocadherin 19							11.0	13.0	12.0					X																	99663451		1947	4091	6038	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663451C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.145G>A	X.37:g.99663451C>T	ENSP00000362125:p.Ala49Thr					PCDH19_ENST00000255531.7_Missense_Mutation_p.A49T|PCDH19_ENST00000420881.2_Missense_Mutation_p.A49T	p.A49T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	1820	-			49			Cadherin 1.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.145G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878415	0.51801	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.26957	1.7;1.7;1.7	5.7	5.7	0.88788	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.121118	0.56097	D	0.000036	T	0.34135	0.0887	L	0.33753	1.03	0.47698	D	0.999496	P;P;P	0.50819	0.939;0.763;0.801	P;B;B	0.56278	0.795;0.288;0.412	T	0.02184	-1.1199	10	0.17832	T	0.49	.	17.4261	0.87526	0.0:1.0:0.0:0.0	.	49;49;49	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	T	49	ENSP00000400327:A49T;ENSP00000362125:A49T;ENSP00000255531:A49T	ENSP00000255531:A49T	A	-	1	0	PCDH19	99550107	0.999000	0.42202	0.952000	0.39060	0.601000	0.36947	3.784000	0.55416	2.385000	0.81259	0.544000	0.68410	GCG		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		13	23	0	0	0	1	0	13	23				
ZNF462	58499	broad.mit.edu	37	9	109701361	109701361	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:109701361C>G	ENST00000277225.5	+	7	6689	c.6400C>G	c.(6400-6402)Ccg>Gcg	p.P2134A	ZNF462_ENST00000542028.1_Missense_Mutation_p.P91A|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2194A|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1040A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2134					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAAGCTACCCCGGCTGAAGA	0.537																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6400-6402)Ccg>Gcg		zinc finger protein 462							139.0	137.0	138.0					9																	109701361		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109701361C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6400C>G	9.37:g.109701361C>G	ENSP00000277225:p.Pro2134Ala					ZNF462_ENST00000542028.1_Missense_Mutation_p.P91A|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2194A|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1040A	p.P2134A			Q96JM2	ZN462_HUMAN			7	6689	+			2134					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6400C>G	CCDS35096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.032|8.032	0.761971|0.761971	0.15914|0.15914	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028|ENST00000427098	T;T;T;T;T|.	0.15017|.	3.44;3.93;4.01;4.02;2.46|.	5.71|5.71	3.53|3.53	0.40419|0.40419	.|.	0.427430|0.427430	0.25958|0.25958	N|N	0.027208|0.027208	T|T	0.31009|0.31009	0.0783|0.0783	N|N	0.14661|0.14661	0.345|0.345	0.32513|0.32513	N|N	0.537286|0.537286	B;B;B|.	0.20368|.	0.029;0.044;0.009|.	B;B;B|.	0.19148|.	0.005;0.024;0.006|.	T|T	0.39210|0.39210	-0.9625|-0.9625	10|6	0.38643|.	T|.	0.18|.	.|.	8.976|8.976	0.35935|0.35935	0.3562:0.5696:0.0:0.0741|0.3562:0.5696:0.0:0.0741	.|.	2194;35;2134|.	Q96JM2-3;Q5T0T2;Q96JM2|.	.;.;ZN462_HUMAN|.	A|R	2134;2194;1077;1040;91|35	ENSP00000277225:P2134A;ENSP00000414570:P2194A;ENSP00000363818:P1077A;ENSP00000397306:P1040A;ENSP00000439771:P91A|.	ENSP00000277225:P2134A|.	P|P	+|+	1|2	0|0	ZNF462|ZNF462	108741182|108741182	0.182000|0.182000	0.23173|0.23173	0.212000|0.212000	0.23672|0.23672	0.124000|0.124000	0.20399|0.20399	1.625000|1.625000	0.37029|0.37029	1.392000|1.392000	0.46585|0.46585	0.655000|0.655000	0.94253|0.94253	CCG|CCC		0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		66	252	0	0	0	1	0	66	252				
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					ENST00000310991.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(67-78)ctg>ct		transmembrane protein 52				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del						p.LLPL23del	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	76_84	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		3	6						3	6	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40782793	40782793	+	Splice_Site	DEL	A	A	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:40782793delA	ENST00000372748.3	-	1	172		c.e1+1			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGCGAAACTTACAATCTGCGC	0.682																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e1+1		collagen, type IX, alpha 2							17.0	19.0	18.0					1																	40782793		2178	4271	6449	SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40782793delA	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.75+1T>-	1.37:g.40782793delA								NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		1	172	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RMP9	Splice_Site	DEL	ENST00000372748.3	37		CCDS450.1																																																																																				0.682	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	2	4						2	4	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038152	75038153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr1:75038152_75038153insT	ENST00000326665.5	-	14	3459_3460	c.3241_3242insA	c.(3241-3243)acafs	p.T1081fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1081	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTTGCCCTTGTCACCTCTTCT	0.421																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3241-3243)aagfs		chromosome 1 open reading frame 173																																				SO:0001589	frameshift_variant	127254							g.chr1:75038152_75038153insT																												ENST00000326665.5:c.3242dupA	1.37:g.75038153_75038153dupT	ENSP00000322609:p.Thr1081fs					C1orf173_ENST00000433746.2_5'UTR	p.K1081fs	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3459_3460	-			1081			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Ins	INS	ENST00000326665.5	37	c.3241_3242insA	CCDS30755.1																																																																																				0.421	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			15	211						15	211	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89102271	89102274	+	RNA	DEL	AAAC	AAAC	-	rs5832743		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr2:89102271_89102274delAAAC	ENST00000393525.3	+	0	2745_2748									ankyrin repeat domain 36B pseudogene 2																		ATGATGTCTTAAACAAACAATCAG	0.328																																						ENST00000393525.3																			0																																																			645784							g.chr2:89102271_89102274delAAAC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89102275_89102278delAAAC														0	2745_2748	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.328	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			5	7						5	7	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						ENST00000309964.4																			2	Deletion - Frameshift(2)	p.L123fs*1(2)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)tafs		clock circadian regulator							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	618	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	94						7	94	---	---	---	---
GTF2H4	2968	broad.mit.edu	37	6	30881699	30881700	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:30881699_30881700insG	ENST00000259895.4	+	14	1551_1552	c.1328_1329insG	c.(1327-1332)gtgaccfs	p.T444fs	VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank|GTF2H4_ENST00000376316.2_Frame_Shift_Ins_p.T444fs|VARS2_ENST00000542001.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	444					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTCATGGTGGTGACCCCGGCCG	0.653								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1327-1329)gacfs	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa																																				SO:0001589	frameshift_variant	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30881699_30881700insG	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1329dupG	6.37:g.30881700_30881700dupG	ENSP00000259895:p.Thr444fs					GTF2H4_ENST00000376316.2_Frame_Shift_Ins_p.D443fs	p.D443fs	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			14	1551_1552	+			443					B4DTJ5|Q76KU4	Frame_Shift_Ins	INS	ENST00000259895.4	37	c.1328_1329insG	CCDS34386.1																																																																																				0.653	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		11	22						11	22	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			3128							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	3						4	3	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6781178	6781178	+	RNA	DEL	A	A	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr7:6781178delA	ENST00000486256.1	+	0	1694					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		actctgtttcaaaaaaaaaga	0.403																																						ENST00000486256.1																			0																																																			441194							g.chr7:6781178delA	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6781178delA								NR_002217.1						0	1694	+								B4DK88|Q764P1	RNA	DEL	ENST00000486256.1	37																																																																																						0.403	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		2	4						2	4	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144946991	144946992	+	Frame_Shift_Ins	INS	-	-	T	rs146779869		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr8:144946991_144946992insT	ENST00000525985.1	-	2	501_502	c.430_431insA	c.(430-432)aggfs	p.R144fs				P58107	EPIPL_HUMAN	epiplakin 1	144						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCAGGGCCCTGTCCACAACC	0.688																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(430-432)ggcfs		epiplakin 1																																				SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946991_144946992insT	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.431dupA	8.37:g.144946992_144946992dupT	ENSP00000436337:p.Arg144fs						p.G144fs			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	501_502	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		144					Q76E58|Q9NSU9	Frame_Shift_Ins	INS	ENST00000525985.1	37	c.430_431insA																																																																																					0.688	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	84						9	84	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971180	21971180	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr9:21971180delC	ENST00000304494.5	-	2	448	c.178delG	c.(178-180)gcgfs	p.A60fs	CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G75fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G116fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G75fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	60			A -> T.|A -> V (in melanoma; loss of CDK4 binding; dbSNP:rs36204594).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.R58fs*59(2)|p.V59fs*82(2)|p.0(1)|p.V28_V51del(1)|p.E61fs*49(1)|p.V59fs*45(1)|p.G55fs*86(1)|p.A60fs*86(1)|p.V59_G67del(1)|p.A57fs*85(1)|p.E61fs*55(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCAGCTCCGCCACTCGGGCG	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1373	Whole gene deletion(1316)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(2)	p.0?(1315)|p.?(45)|p.R58fs*59(2)|p.V59fs*82(2)|p.0(1)|p.V28_V51del(1)|p.E61fs*49(1)|p.V59fs*45(1)|p.G55fs*86(1)|p.A60fs*86(1)|p.V59_G67del(1)|p.A57fs*85(1)|p.E61fs*55(1)	haematopoietic_and_lymphoid_tissue(285)|skin(176)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(53)|pleura(51)|oesophagus(51)|ovary(37)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(220-222)gcfs		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971180		2052	4114	6166	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971180delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.178delG	9.37:g.21971180delC	ENSP00000307101:p.Ala60fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G116fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G75fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A9fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A9fs	p.G75fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	513	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	51					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.221delG	CCDS6510.1																																																																																				0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	29						18	29	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24762778	24762779	+	In_Frame_Ins	INS	-	-	ATA			TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr10:24762778_24762779insATA	ENST00000376454.3	+	6	1498_1499	c.1468_1469insATA	c.(1468-1470)tat>tATAat	p.491_492insN	KIAA1217_ENST00000396446.1_In_Frame_Ins_p.209_210insN|KIAA1217_ENST00000376452.3_In_Frame_Ins_p.491_492insN|KIAA1217_ENST00000396445.1_In_Frame_Ins_p.209_210insN|KIAA1217_ENST00000307544.6_In_Frame_Ins_p.209_210insN|KIAA1217_ENST00000458595.1_In_Frame_Ins_p.491_492insN|KIAA1217_ENST00000376451.2_In_Frame_Ins_p.209_210insN|KIAA1217_ENST00000376462.1_In_Frame_Ins_p.411_412insN|KIAA1217_ENST00000430453.2_In_Frame_Ins_p.412_413insN	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	491					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCACGCTCACTATAATGCCCAC	0.554																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(622-624)taa>ATAtaa		KIAA1217																																				SO:0001652	inframe_insertion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762778_24762779insATA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1469_1471dupATA	10.37:g.24762779_24762781dupATA	ENSP00000365637:p.Asn491_Asn491dup					KIAA1217_ENST00000430453.2_In_Frame_Ins_p.410_411insI|KIAA1217_ENST00000396446.1_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000376454.3_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000396445.1_In_Frame_Ins_p.207_208insI|KIAA1217_ENST00000376452.3_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000376462.1_In_Frame_Ins_p.409_410insI|KIAA1217_ENST00000458595.1_In_Frame_Ins_p.489_490insI|KIAA1217_ENST00000307544.6_In_Frame_Ins_p.207_208insI	p.207_208insI			Q5T5P2	SKT_HUMAN			2	882_883	+			489					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Ins	INS	ENST00000376454.3	37	c.622_623insATA	CCDS31165.1																																																																																				0.554	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		18	169						18	169	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578461	7578462	+	Frame_Shift_Del	DEL	CG	CG	-	rs121912654		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:7578461_7578462delCG	ENST00000269305.4	-	5	657_658	c.468_469delCG	c.(466-471)cgcgtcfs	p.V157fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.V157fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.V157fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V157fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V157fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V157fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.V157fs*13(3)|p.R156R(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.G154_R156delGTR(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156del(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCGG	0.614		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		240	Substitution - Missense(189)|Deletion - Frameshift(18)|Deletion - In frame(17)|Whole gene deletion(8)|Insertion - Frameshift(3)|Substitution - coding silent(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.V157fs*13(3)|p.R156R(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.G154_R156delGTR(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156del(1)|p.T155_R156delTR(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(31)|upper_aerodigestive_tract(27)|breast(19)|oesophagus(14)|ovary(14)|stomach(9)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(8)|central_nervous_system(6)|urinary_tract(5)|bone(5)|vulva(4)|pancreas(4)|skin(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(2)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(466-471)cgtcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461_7578462delCG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.468_469delCG	17.37:g.7578463_7578464delCG	ENSP00000269305:p.Val157fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Del_p.RV156fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RV156fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RV156fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RV156fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RV156fs	p.RV156fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	600_601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.468_469delCG	CCDS11118.1																																																																																				0.614	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	87						37	87	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		7	18						7	18	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50897784	50897786	+	In_Frame_Del	DEL	CTC	CTC	-	rs540943450		TCGA-CN-A640-01A-21D-A30E-08	TCGA-CN-A640-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6596705d-731e-4780-a964-65dca0311f65	fa53624e-3251-43cd-a140-7f6feaac41a2	g.chr22:50897784_50897786delCTC	ENST00000390679.3	-	28	3908_3910	c.3724_3726delGAG	c.(3724-3726)gagdel	p.E1242del	SBF1_ENST00000348911.6_In_Frame_Del_p.E1243del|SBF1_ENST00000380817.3_In_Frame_Del_p.E1242del|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1242	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGTACTTCTCCTGCTCCAGG	0.67																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3724-3726)del		SET binding factor 1																																				SO:0001651	inframe_deletion	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50897784_50897786delCTC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3724_3726delGAG	22.37:g.50897784_50897786delCTC	ENSP00000375097:p.Glu1242del					SBF1_ENST00000390679.3_In_Frame_Del_p.E1242del|SBF1_ENST00000348911.6_In_Frame_Del_p.E1243del	p.E1242del	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	28	3907_3909	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1242			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	In_Frame_Del	DEL	ENST00000390679.3	37	c.3724_3726delGAG																																																																																					0.670	SBF1-201	KNOWN	basic	protein_coding	protein_coding				10	51						10	51	---	---	---	---
