#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
NFATC2	4773	broad.mit.edu	37	20	50090571	50090571	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr20:50090571C>G	ENST00000396009.3	-	5	1873	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	NFATC2_ENST00000609507.1_Missense_Mutation_p.E333Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.E532Q|NFATC2_ENST00000610033.1_Missense_Mutation_p.E333Q|NFATC2_ENST00000371564.3_Missense_Mutation_p.E552Q|NFATC2_ENST00000609943.1_Missense_Mutation_p.E532Q	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	552	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCACTGGACTCTGGGATGTGA	0.537																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1654-1656)Gag>Cag		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							155.0	122.0	133.0					20																	50090571		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50090571C>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1654G>C	20.37:g.50090571C>G	ENSP00000379330:p.Glu552Gln					NFATC2_ENST00000414705.1_Missense_Mutation_p.E532Q|NFATC2_ENST00000396009.3_Missense_Mutation_p.E552Q	p.E552Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			5	1873	-	Hepatocellular(150;0.248)		552			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1654G>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250551	0.10130	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.45276	0.9;0.9;0.9	4.97	4.02	0.46733	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.114561	0.64402	N	0.000014	T	0.19005	0.0456	N	0.00068	-2.285	0.40145	D	0.976873	B;D;P;B	0.69078	0.273;0.997;0.517;0.174	B;D;B;B	0.75484	0.086;0.986;0.18;0.086	T	0.49716	-0.8910	10	0.02654	T	1	-18.3785	13.5734	0.61860	0.0:0.9242:0.0:0.0757	.	532;532;552;552	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Q	552;552;532	ENSP00000360619:E552Q;ENSP00000379330:E552Q;ENSP00000396471:E532Q	ENSP00000360619:E552Q	E	-	1	0	NFATC2	49523978	1.000000	0.71417	0.266000	0.24541	0.288000	0.27193	6.356000	0.73046	1.215000	0.43411	0.449000	0.29647	GAG		0.537	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		21	83	0	0	0	1	0	21	83				
ST3GAL6	10402	broad.mit.edu	37	3	98510706	98510706	+	Missense_Mutation	SNP	G	G	A	rs370458654		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:98510706G>A	ENST00000483910.1	+	9	1067	c.778G>A	c.(778-780)Gga>Aga	p.G260R	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.G260R|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.G142R	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	260					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCCAACAACAGGAATTATTGC	0.388																																						ENST00000265261.6																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(424-426)Gga>Aga		ST3 beta-galactoside alpha-2,3-sialyltransferase 6		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	179.0	167.0	171.0		778	5.7	1.0	3		171	0,8600		0,0,4300	no	missense	ST3GAL6	NM_006100.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	260/332	98510706	1,13005	2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98510706G>A	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.778G>A	3.37:g.98510706G>A	ENSP00000417376:p.Gly260Arg					ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.G260R|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.G260R	p.G142R	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN			9	846	+			260					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.424G>A	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666553	0.88251	2.27E-4	0.0	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000394162	T;T;T	0.76968	-1.06;-1.06;-1.06	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000003	D	0.91553	0.7332	H	0.94462	3.54	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93421	0.6777	10	0.87932	D	0	-32.5129	17.3323	0.87268	0.0:0.0:1.0:0.0	.	142;260	F8W6U0;Q9Y274	.;SIA10_HUMAN	R	260;142;260	ENSP00000417376:G260R;ENSP00000265261:G142R;ENSP00000377717:G260R	ENSP00000265261:G142R	G	+	1	0	ST3GAL6	99993396	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.621000	0.74228	2.701000	0.92244	0.655000	0.94253	GGA		0.388	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		4	207	0	0	0	1	0	4	207				
NYAP2	57624	broad.mit.edu	37	2	226273793	226273793	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:226273793G>A	ENST00000272907.6	+	2	610	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	NYAP2_ENST00000409269.2_Missense_Mutation_p.R66Q	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	66					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAAAACGCCGAAGACAAGAA	0.368																																						ENST00000272907.6																			0											c.(196-198)cGa>cAa		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							49.0	42.0	44.0					2																	226273793		1836	4082	5918	SO:0001583	missense	57624							g.chr2:226273793G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.197G>A	2.37:g.226273793G>A	ENSP00000272907:p.Arg66Gln					NYAP2_ENST00000409269.2_Missense_Mutation_p.R66Q	p.R66Q	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			2	610	+			66					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.197G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894860	0.91962	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.43294	0.95	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.56470	0.1987	L	0.35487	1.065	0.48236	D	0.999616	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.49986	-0.8880	10	0.37606	T	0.19	-8.8832	20.1178	0.97943	0.0:0.0:1.0:0.0	.	66;66	Q9P242-2;Q9P242	.;K1486_HUMAN	Q	66	ENSP00000272907:R66Q	ENSP00000272907:R66Q	R	+	2	0	KIAA1486	225982037	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.021000	0.76425	2.759000	0.94783	0.557000	0.71058	CGA		0.368	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		11	17	0	0	0	1	0	11	17				
NBPF1	55672	broad.mit.edu	37	1	16890496	16890496	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:16890496G>C	ENST00000430580.2	-	29	4249	c.3362C>G	c.(3361-3363)aCt>aGt	p.T1121S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1196	NBPF 8. {ECO:0000255|PROSITE- ProRule:PRU00647}.|Poly-Arg.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCCCATCAAAGTAAGAAACCT	0.473																																						ENST00000430580.2																			0											c.(3361-3363)aCt>aGt		neuroblastoma breakpoint family, member 1							782.0	690.0	721.0					1																	16890496		2203	4300	6503	SO:0001583	missense	55672					cytoplasm		g.chr1:16890496G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3362C>G	1.37:g.16890496G>C	ENSP00000474456:p.Thr1121Ser						p.T1121S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4249	-			0			NBPF 8.|Poly-Arg.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3362C>G																																																																																					0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		47	895	0	0	0	1	0	47	895				
OR1L8	138881	broad.mit.edu	37	9	125330260	125330260	+	Missense_Mutation	SNP	C	C	A	rs373426364		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:125330260C>A	ENST00000304865.2	-	1	578	c.497G>T	c.(496-498)cGt>cTt	p.R166L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGt>cTt		olfactory receptor, family 1, subfamily L, member 8							154.0	116.0	129.0					9																	125330260		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330260C>A		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.497G>T	9.37:g.125330260C>A	ENSP00000306607:p.Arg166Leu						p.R166L	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	578	-			166					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.497G>T	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002870	0.35320	.	.	ENSG00000171496	ENST00000304865	T	0.00169	8.63	4.49	-8.98	0.00754	GPCR, rhodopsin-like superfamily (1);	2.578920	0.01572	N	0.020616	T	0.00241	0.0007	M	0.73753	2.245	0.09310	N	1	B	0.13145	0.007	B	0.25405	0.06	T	0.35251	-0.9796	10	0.72032	D	0.01	2.0917	5.8837	0.18870	0.4193:0.1963:0.0:0.3844	.	166	Q8NGR8	OR1L8_HUMAN	L	166	ENSP00000306607:R166L	ENSP00000306607:R166L	R	-	2	0	OR1L8	124370081	0.000000	0.05858	0.000000	0.03702	0.927000	0.56198	-1.955000	0.01523	-2.450000	0.00543	-0.582000	0.04134	CGT		0.498	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			21	73	1	0	0.000175454	1	0.000179296	21	73				
KIAA0513	9764	broad.mit.edu	37	16	85121917	85121917	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:85121917A>G	ENST00000566428.1	+	13	1853	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	KIAA0513_ENST00000258180.3_Missense_Mutation_p.M408V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.M398V			O60268	K0513_HUMAN	KIAA0513	408						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CATTGAGCAAATGGCCACTGA	0.562																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(1222-1224)Atg>Gtg		KIAA0513							103.0	96.0	98.0					16																	85121917		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85121917A>G	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1222A>G	16.37:g.85121917A>G	ENSP00000457408:p.Met408Val					KIAA0513_ENST00000258180.3_Missense_Mutation_p.M408V|KIAA0513_ENST00000538274.1_Missense_Mutation_p.M398V	p.M408V			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	13	1853	+			408					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.1222A>G	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498636	0.64298	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.55052	0.54;0.55	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.58268	0.982;0.969	D;D	0.68943	0.961;0.914	T	0.72080	-0.4398	10	0.87932	D	0	-10.9868	13.873	0.63631	1.0:0.0:0.0:0.0	.	398;408	B4DSS5;O60268	.;K0513_HUMAN	V	398;408	ENSP00000446439:M398V;ENSP00000258180:M408V	ENSP00000258180:M408V	M	+	1	0	KIAA0513	83679418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.259000	0.89855	1.956000	0.56807	0.533000	0.62120	ATG		0.562	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		16	73	0	0	0	1	0	16	73				
LDLRAP1	26119	broad.mit.edu	37	1	25883713	25883713	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:25883713C>A	ENST00000374338.4	+	4	533	c.414C>A	c.(412-414)aaC>aaA	p.N138K	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	138	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCACAACCAGAGCCTCG	0.602																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(412-414)aaC>aaA		low density lipoprotein receptor adaptor protein 1							125.0	93.0	104.0					1																	25883713		2203	4300	6503	SO:0001583	missense	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25883713C>A	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.414C>A	1.37:g.25883713C>A	ENSP00000363458:p.Asn138Lys					LDLRAP1_ENST00000488127.1_3'UTR	p.N138K	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	4	533	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	138			PID.		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	c.414C>A	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995233	0.54147	.	.	ENSG00000157978	ENST00000374338	T	0.62639	0.01	5.61	1.67	0.24075	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.211896	0.56097	D	0.000030	T	0.59555	0.2202	L	0.54323	1.7	0.58432	D	0.999991	B	0.30211	0.273	B	0.39068	0.289	T	0.59558	-0.7432	10	0.72032	D	0.01	-13.0374	9.7318	0.40366	0.0:0.5824:0.0:0.4175	.	138	Q5SW96	ARH_HUMAN	K	138	ENSP00000363458:N138K	ENSP00000363458:N138K	N	+	3	2	LDLRAP1	25756300	0.000000	0.05858	0.951000	0.38953	0.792000	0.44763	-0.759000	0.04761	0.338000	0.23692	0.563000	0.77884	AAC		0.602	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		30	82	1	0	1.61788e-16	1	1.78349e-16	30	82				
GPT2	84706	broad.mit.edu	37	16	46952615	46952615	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:46952615C>A	ENST00000340124.4	+	8	1095	c.983C>A	c.(982-984)tCc>tAc	p.S328Y	GPT2_ENST00000440783.2_Missense_Mutation_p.S228Y	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	328					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	CCCGAGTACTCCAGCAACGTG	0.617																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(682-684)tCc>tAc		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						142.0	123.0	130.0					16																	46952615		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46952615C>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.983C>A	16.37:g.46952615C>A	ENSP00000345282:p.Ser328Tyr					GPT2_ENST00000340124.4_Missense_Mutation_p.S328Y	p.S228Y	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			8	1348	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	328					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.683C>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	9.175	1.022164	0.19433	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;D	0.90732	2.05;-2.72	4.43	4.43	0.53597	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.129139	0.56097	D	0.000027	D	0.88764	0.6525	M	0.65498	2.005	0.40624	D	0.981798	B	0.28933	0.228	B	0.39503	0.301	D	0.84091	0.0390	10	0.28530	T	0.3	.	4.8549	0.13554	0.1527:0.6159:0.1481:0.0833	.	328	Q8TD30	ALAT2_HUMAN	Y	328;228	ENSP00000345282:S328Y;ENSP00000413804:S228Y	ENSP00000345282:S328Y	S	+	2	0	GPT2	45510116	0.281000	0.24258	1.000000	0.80357	0.163000	0.22366	0.634000	0.24614	2.452000	0.82932	0.655000	0.94253	TCC		0.617	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			41	157	1	0	1.96642e-18	1	2.22015e-18	41	157				
RWDD3	25950	broad.mit.edu	37	1	95709957	95709957	+	Silent	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:95709957G>A	ENST00000370202.4	+	2	352	c.276G>A	c.(274-276)gaG>gaA	p.E92E	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000429514.2_Silent_p.E77E|RWDD3_ENST00000263893.6_Silent_p.E92E	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	92	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGCAAGCAGAGAGCCTTTTGT	0.468																																						ENST00000429514.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(229-231)gaG>gaA		RWD domain containing 3							115.0	109.0	111.0					1																	95709957		1932	4142	6074	SO:0001819	synonymous_variant	25950					cytoplasm|nucleus	protein binding	g.chr1:95709957G>A	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.276G>A	1.37:g.95709957G>A						RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000370202.4_Silent_p.E92E|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Silent_p.E92E	p.E77E			Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	3	437	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	92			RWD.		A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Silent	SNP	ENST00000370202.4	37	c.231G>A	CCDS41357.1																																																																																				0.468	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		23	67	0	0	0	1	0	23	67				
RC3H2	54542	broad.mit.edu	37	9	125618102	125618102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:125618102G>A	ENST00000373670.1	-	13	3110	c.2510C>T	c.(2509-2511)tCt>tTt	p.S837F	RC3H2_ENST00000357244.2_Missense_Mutation_p.S837F|RC3H2_ENST00000423239.2_Missense_Mutation_p.S837F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	837					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGACCAGGGAGAATAATGGGA	0.353																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2509-2511)tCt>tTt		ring finger and CCCH-type domains 2							101.0	97.0	98.0					9																	125618102		1852	4098	5950	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125618102G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2510C>T	9.37:g.125618102G>A	ENSP00000362774:p.Ser837Phe					RC3H2_ENST00000357244.2_Missense_Mutation_p.S837F|RC3H2_ENST00000423239.2_Missense_Mutation_p.S837F	p.S837F			Q9HBD1	RC3H2_HUMAN			13	3110	-			837					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2510C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940811	0.73557	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.61980	0.06;0.06;0.12	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	L	0.34521	1.04	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.74348	0.962;0.983	T	0.72191	-0.4365	10	0.56958	D	0.05	-17.4659	16.6089	0.84838	0.0:0.0:1.0:0.0	.	837;837	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	F	837;837;708;837	ENSP00000362774:S837F;ENSP00000349783:S837F;ENSP00000411767:S837F	ENSP00000349783:S837F	S	-	2	0	RC3H2	124657923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.302000	0.89953	2.595000	0.87683	0.655000	0.94253	TCT		0.353	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		22	56	0	0	0	1	0	22	56				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			79986							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			3	20	0	0	0	1	0	3	20				
TP53	7157	broad.mit.edu	37	17	7578530	7578530	+	Missense_Mutation	SNP	A	A	C	rs267605077		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:7578530A>C	ENST00000269305.4	-	5	589	c.400T>G	c.(400-402)Ttt>Gtt	p.F134V	TP53_ENST00000359597.4_Missense_Mutation_p.F134V|TP53_ENST00000445888.2_Missense_Mutation_p.F134V|TP53_ENST00000420246.2_Missense_Mutation_p.F134V|TP53_ENST00000413465.2_Missense_Mutation_p.F134V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F134V	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	134	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|F -> S (in sporadic cancers; somatic mutation).|F -> V (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.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(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)	AGTTGGCAAAACATCTTGTTG	0.567		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"""		60	Substitution - Missense(33)|Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(2)|Insertion - Frameshift(1)|Unknown(1)	p.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(1)	breast(13)|haematopoietic_and_lymphoid_tissue(7)|ovary(6)|kidney(5)|large_intestine(4)|central_nervous_system(4)|lung(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|pancreas(2)|vulva(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.(400-402)Ttt>Gtt	Other conserved DNA damage response genes	tumor protein p53							48.0	49.0	49.0					17																	7578530		2203	4300	6503	SO:0001583	missense	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.chr17:7578530A>C	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.400T>G	17.37:g.7578530A>C	ENSP00000269305:p.Phe134Val	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_ENST00000413465.2_Missense_Mutation_p.F134V|TP53_ENST00000269305.4_Missense_Mutation_p.F134V|TP53_ENST00000455263.2_Missense_Mutation_p.F134V|TP53_ENST00000445888.2_Missense_Mutation_p.F134V|TP53_ENST00000359597.4_Missense_Mutation_p.F134V	p.F134V	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	532	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	134		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.400T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815196	0.90790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99841	-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09;-7.09	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.054280	0.64402	D	0.000001	D	0.99825	0.9922	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.998;0.965;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.989;0.996;0.99;0.91;0.999;0.999;0.996	D	0.96722	0.9533	10	0.87932	D	0	-24.5315	13.8301	0.63375	1.0:0.0:0.0:0.0	.	95;134;134;41;134;134;134	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	134;134;134;134;134;134;123;41;2;41;2;134	ENSP00000410739:F134V;ENSP00000352610:F134V;ENSP00000269305:F134V;ENSP00000398846:F134V;ENSP00000391127:F134V;ENSP00000391478:F134V;ENSP00000425104:F2V;ENSP00000423862:F41V;ENSP00000424104:F134V	ENSP00000269305:F134V	F	-	1	0	TP53	7519255	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	TTT		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	32	0	0	0	1	0	34	32				
MSC	9242	broad.mit.edu	37	8	72756257	72756257	+	Missense_Mutation	SNP	C	C	T	rs529973134		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr8:72756257C>T	ENST00000325509.4	-	1	446	c.157G>A	c.(157-159)Gac>Aac	p.D53N	RP11-383H13.1_ENST00000524152.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	53	Glu-rich (acidic).				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCCTCGCCGTCGGGGTCCTCC	0.736											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		14462	0.0		0.0	False		,,,				2504	0.001					ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(157-159)Gac>Aac		musculin							5.0	6.0	6.0					8																	72756257		1840	3943	5783	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756257C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.157G>A	8.37:g.72756257C>T	ENSP00000321445:p.Asp53Asn		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.D53N	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	446	-	Breast(64;0.176)		53			Glu-rich (acidic).		O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.157G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688595	0.48097	.	.	ENSG00000178860	ENST00000325509	D	0.97850	-4.57	4.16	2.3	0.28687	.	0.902049	0.09686	N	0.769091	D	0.92864	0.7730	N	0.19112	0.55	0.23784	N	0.996855	B	0.31519	0.327	B	0.24701	0.055	D	0.84824	0.0798	10	0.22109	T	0.4	.	9.4984	0.39001	0.1618:0.6822:0.156:0.0	.	53	O60682	MUSC_HUMAN	N	53	ENSP00000321445:D53N	ENSP00000321445:D53N	D	-	1	0	MSC	72918811	0.775000	0.28604	0.998000	0.56505	0.982000	0.71751	1.470000	0.35354	0.373000	0.24621	0.561000	0.74099	GAC		0.736	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		3	11	0	0	0	1	0	3	11				
CMIP	80790	broad.mit.edu	37	16	81733384	81733384	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:81733384G>C	ENST00000537098.3	+	15	1805	c.1733G>C	c.(1732-1734)aGg>aCg	p.R578T	CMIP_ENST00000539778.2_Missense_Mutation_p.R484T|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.R425T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	578						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTGGCACTGAGGGGGAACCAG	0.597																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1732-1734)aGg>aCg		c-Maf inducing protein							43.0	42.0	42.0					16																	81733384		1969	4144	6113	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81733384G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1733G>C	16.37:g.81733384G>C	ENSP00000446100:p.Arg578Thr					CMIP_ENST00000398040.4_Missense_Mutation_p.R425T|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.R484T	p.R578T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			15	1805	+			544					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1733G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887691	0.72410	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.11063	2.81;2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	L	0.34521	1.04	0.80722	D	1	D;D;D	0.60160	0.981;0.981;0.987	D;D;D	0.69142	0.962;0.962;0.942	T	0.00472	-1.1719	10	0.66056	D	0.02	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	425;484;578	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	T	578;484;484;391	ENSP00000446100:R578T;ENSP00000440401:R484T	ENSP00000381120:R484T	R	+	2	0	CMIP	80290885	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	9.827000	0.99397	2.676000	0.91093	0.655000	0.94253	AGG		0.597	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		8	39	0	0	0	1	0	8	39				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			28	25	0	0	0	1	0	28	25				
MDH2	4191	broad.mit.edu	37	7	75695628	75695628	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:75695628G>A	ENST00000315758.5	+	9	1011	c.917G>A	c.(916-918)gGc>gAc	p.G306D	MDH2_ENST00000443006.1_Missense_Mutation_p.G199D|MDH2_ENST00000432020.2_Missense_Mutation_p.G264D	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	306					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CTGGGCATCGGCAAAGTCTCC	0.493																																						ENST00000315758.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						c.(916-918)gGc>gAc		malate dehydrogenase 2, NAD (mitochondrial)	NADH(DB00157)						75.0	72.0	73.0					7																	75695628		2203	4300	6503	SO:0001583	missense	4191				gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity	g.chr7:75695628G>A		CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.917G>A	7.37:g.75695628G>A	ENSP00000327070:p.Gly306Asp					MDH2_ENST00000432020.2_Missense_Mutation_p.G264D|MDH2_ENST00000443006.1_Missense_Mutation_p.G199D	p.G306D	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN			9	1011	+			306					A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	ENST00000315758.5	37	c.917G>A	CCDS5581.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478325	0.63849	.	.	ENSG00000146701	ENST00000315758;ENST00000443006;ENST00000432020	T;T;T	0.68765	-0.35;-0.35;-0.35	5.41	5.41	0.78517	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.79123	2.44	0.80722	D	1	P;B	0.35944	0.529;0.189	P;P	0.49192	0.521;0.602	T	0.80661	-0.1283	10	0.72032	D	0.01	-26.4432	18.181	0.89777	0.0:0.0:1.0:0.0	.	264;306	E9PDB2;P40926	.;MDHM_HUMAN	D	306;199;264	ENSP00000327070:G306D;ENSP00000416929:G199D;ENSP00000408649:G264D	ENSP00000327070:G306D	G	+	2	0	MDH2	75533564	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	9.823000	0.99369	2.535000	0.85469	0.655000	0.94253	GGC		0.493	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1			4	84	0	0	0	1	0	4	84				
ADAM30	11085	broad.mit.edu	37	1	120437244	120437244	+	Silent	SNP	C	C	A	rs145951922		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:120437244C>A	ENST00000369400.1	-	1	1874	c.1716G>T	c.(1714-1716)acG>acT	p.T572T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	572	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATTATAGTCGTATGCTCTG	0.398																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1714-1716)acG>acT		ADAM metallopeptidase domain 30							110.0	111.0	110.0					1																	120437244		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437244C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1716G>T	1.37:g.120437244C>A							p.T572T	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1874	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	572			Cys-rich.		A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.1716G>T	CCDS907.1																																																																																				0.398	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		4	187	1	0	1	1	1	4	187				
DDR1	780	broad.mit.edu	37	6	30866962	30866962	+	Silent	SNP	G	G	A	rs371228785		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:30866962G>A	ENST00000324771.8	+	20	3179	c.2631G>A	c.(2629-2631)ccG>ccA	p.P877P	DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Silent_p.P840P|DDR1_ENST00000376568.3_Silent_p.P877P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Silent_p.P883P|DDR1_ENST00000376567.2_Silent_p.P840P|DDR1_ENST00000454612.2_Silent_p.P840P|DDR1_ENST00000452441.1_Silent_p.P877P|DDR1_ENST00000508312.1_Silent_p.P858P|DDR1_ENST00000376575.3_Silent_p.P883P|DDR1_ENST00000418800.2_Silent_p.P840P|DDR1_ENST00000376570.4_Silent_p.P840P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCTGCCCGCAGGGCCTAT	0.577																																						ENST00000324771.8																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(2629-2631)ccG>ccA		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						94.0	94.0	94.0					6																	30866962		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30866962G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2631G>A	6.37:g.30866962G>A						DDR1_ENST00000454612.2_Silent_p.P840P|DDR1_ENST00000418800.2_Silent_p.P840P|DDR1_ENST00000513240.1_Silent_p.P883P|DDR1_ENST00000376570.4_Silent_p.P840P|DDR1_ENST00000376569.3_Silent_p.P840P|DDR1_ENST00000376575.3_Silent_p.P883P|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000508312.1_Silent_p.P858P|DDR1_ENST00000376568.3_Silent_p.P877P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Silent_p.P877P|DDR1_ENST00000376567.2_Silent_p.P840P	p.P877P			Q08345	DDR1_HUMAN			20	3179	+			877			Protein kinase.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.2631G>A	CCDS34385.1																																																																																				0.577	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		32	153	0	0	0	1	0	32	153				
CLDN22	53842	broad.mit.edu	37	4	184241063	184241063	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr4:184241063G>C	ENST00000323319.5	-	1	864	c.309C>G	c.(307-309)gaC>gaG	p.D103E	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	103					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCTCAAACAGTCCAGGCCAA	0.552																																						ENST00000323319.5																			0				cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						c.(307-309)gaC>gaG		claudin 22							27.0	30.0	29.0					4																	184241063		1568	3580	5148	SO:0001583	missense	53842				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr4:184241063G>C	AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.309C>G	4.37:g.184241063G>C	ENSP00000318113:p.Asp103Glu					WWC2_ENST00000403733.3_3'UTR	p.D103E	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	864	-		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)	103						Missense_Mutation	SNP	ENST00000323319.5	37	c.309C>G	CCDS43286.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500613	0.44455	.	.	ENSG00000177300	ENST00000323319	D	0.88277	-2.36	6.13	4.12	0.48240	.	0.171090	0.53938	D	0.000049	D	0.89687	0.6787	L	0.56396	1.775	0.32208	N	0.576951	P	0.44521	0.837	P	0.49276	0.605	D	0.91599	0.5293	10	0.51188	T	0.08	.	14.2187	0.65809	0.1395:0.0:0.8604:0.0	.	103	Q8N7P3	CLD22_HUMAN	E	103	ENSP00000318113:D103E	ENSP00000318113:D103E	D	-	3	2	CLDN22	184478057	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.677000	0.37576	1.621000	0.50320	0.650000	0.86243	GAC		0.552	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361493.1			9	31	0	0	0	1	0	9	31				
ZNF594	84622	broad.mit.edu	37	17	5085765	5085765	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:5085765T>C	ENST00000399604.4	-	1	1927	c.1787A>G	c.(1786-1788)tAt>tGt	p.Y596C	ZNF594_ENST00000575779.1_Missense_Mutation_p.Y596C			Q96JF6	ZN594_HUMAN	zinc finger protein 594	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGCATTCATATGGTTTCTC	0.418																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1786-1788)tAt>tGt		zinc finger protein 594							160.0	161.0	161.0					17																	5085765		2036	4209	6245	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085765T>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1787A>G	17.37:g.5085765T>C	ENSP00000382513:p.Tyr596Cys					ZNF594_ENST00000575779.1_Missense_Mutation_p.Y596C	p.Y596C			Q96JF6	ZN594_HUMAN			1	1927	-			596					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1787A>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	t	8.443	0.851218	0.17034	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.25414	1.8	0.972	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45256	0.1333	M	0.80982	2.52	0.09310	N	1	D	0.67145	0.996	D	0.79784	0.993	T	0.24225	-1.0166	9	0.87932	D	0	.	3.0341	0.06116	0.3926:0.0:0.0:0.6074	.	596	Q96JF6	ZN594_HUMAN	C	596;191	ENSP00000382513:Y596C	ENSP00000373874:Y191C	Y	-	2	0	ZNF594	5026489	0.000000	0.05858	0.004000	0.12327	0.084000	0.17831	-0.414000	0.07114	0.374000	0.24650	0.155000	0.16302	TAT		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		20	206	0	0	0	1	0	20	206				
CHST5	23563	broad.mit.edu	37	16	75563775	75563775	+	Missense_Mutation	SNP	C	C	T	rs372806195		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:75563775C>T	ENST00000336257.3	-	3	1902	c.508G>A	c.(508-510)Gta>Ata	p.V170I	CHST5_ENST00000541075.1_Missense_Mutation_p.V176I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	170					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GTCTTGCATACGTCCTGCTTG	0.652																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(508-510)Gta>Ata		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							104.0	108.0	106.0					16																	75563775		2198	4299	6497	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563775C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.508G>A	16.37:g.75563775C>T	ENSP00000338783:p.Val170Ile					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V176I	p.V170I	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1902	-			170					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.508G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.393393	0.01185	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96334	-3.97;-3.98	2.73	1.74	0.24563	Sulfotransferase domain (1);	0.339723	0.29838	N	0.011080	D	0.92672	0.7671	L	0.43152	1.355	0.09310	N	1	P;P	0.35600	0.455;0.511	B;B	0.36534	0.145;0.227	T	0.83148	-0.0105	10	0.21540	T	0.41	.	11.5587	0.50764	0.0:0.8895:0.0:0.1105	.	176;170	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	I	170;176	ENSP00000338783:V170I;ENSP00000441220:V176I	ENSP00000338783:V170I	V	-	1	0	CHST5	74121276	0.013000	0.17824	0.087000	0.20705	0.000000	0.00434	1.410000	0.34691	0.045000	0.15804	-1.786000	0.00637	GTA		0.652	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		83	295	0	0	0	1	0	83	295				
DNAJC25	548645	broad.mit.edu	37	9	114411821	114411821	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:114411821A>T	ENST00000313525.3	+	3	634	c.578A>T	c.(577-579)aAg>aTg	p.K193M	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	193						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GAGATTGCCAAGCAGCAGGGA	0.403																																						ENST00000313525.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(577-579)aAg>aTg		DnaJ (Hsp40) homolog, subfamily C , member 25							45.0	43.0	43.0					9																	114411821		1850	4099	5949	SO:0001583	missense	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114411821A>T		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.578A>T	9.37:g.114411821A>T	ENSP00000320650:p.Lys193Met					DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	p.K193M	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN			3	634	+			193					Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	c.578A>T	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464768	0.63513	.	.	ENSG00000059769	ENST00000313525	T	0.50001	0.76	6.17	-0.198	0.13224	.	0.248172	0.46442	D	0.000286	T	0.40247	0.1109	M	0.79258	2.445	0.80722	D	1	P	0.45594	0.862	B	0.36989	0.238	T	0.31503	-0.9941	10	0.72032	D	0.01	-24.4838	5.9117	0.19031	0.4877:0.0:0.3862:0.1261	.	193	Q9H1X3	DJC25_HUMAN	M	193	ENSP00000320650:K193M	ENSP00000320650:K193M	K	+	2	0	DNAJC25	113451642	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	1.421000	0.34815	-0.045000	0.13468	-0.290000	0.09829	AAG		0.403	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		8	30	0	0	0	1	0	8	30				
FAT1	2195	broad.mit.edu	37	4	187628173	187628173	+	Nonsense_Mutation	SNP	G	G	A	rs547340067		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr4:187628173G>A	ENST00000441802.2	-	2	3018	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	937	Cadherin 8. {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						AGATCCTCTCGGACTTTCACA	0.468										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.(2809-2811)Cga>Tga		FAT atypical cadherin 1																																				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.chr4:187628173G>A	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.2809C>T	4.37:g.187628173G>A	ENSP00000406229:p.Arg937*	HNSCC(5;0.00058)					p.R937*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	3018	-			937			Cadherin 8.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2809C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	9.887099	0.99288	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	18.1062	0.89520	0.0:0.0:1.0:0.0	.	.	.	.	X	937	.	ENSP00000260147:R937X	R	-	1	2	FAT1	187865167	1.000000	0.71417	0.994000	0.49952	0.838000	0.47535	6.048000	0.71046	2.579000	0.87056	0.491000	0.48974	CGA		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		113	170	0	0	0	1	0	113	170				
PBLD	64081	broad.mit.edu	37	10	70045128	70045128	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:70045128T>A	ENST00000358769.2	-	9	933	c.731A>T	c.(730-732)cAt>cTt	p.H244L	PBLD_ENST00000432941.1_Missense_Mutation_p.H244L|PBLD_ENST00000495025.2_Missense_Mutation_p.H244L|PBLD_ENST00000309049.4_Missense_Mutation_p.H244L|PBLD_ENST00000336578.1_Missense_Mutation_p.H211L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	244					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCCCCAGATGCTGGGACCA	0.433																																						ENST00000358769.2																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(730-732)cAt>cTt		phenazine biosynthesis-like protein domain containing							111.0	113.0	112.0					10																	70045128		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70045128T>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.731A>T	10.37:g.70045128T>A	ENSP00000351619:p.His244Leu					PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000309049.4_Missense_Mutation_p.H244L|PBLD_ENST00000336578.1_Missense_Mutation_p.H211L|PBLD_ENST00000432941.1_Missense_Mutation_p.H244L	p.H244L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN			9	933	-			244					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.731A>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	T	9.968	1.224792	0.22457	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.24	5.24	0.73138	.	0.501814	0.19721	N	0.107581	T	0.20007	0.0481	N	0.12611	0.24	0.22468	N	0.999077	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.19095	-1.0316	10	0.66056	D	0.02	-1.8124	13.3756	0.60736	0.0:0.0:0.0:1.0	.	244;244	C9JIM0;P30039	.;PBLD_HUMAN	L	211;244;244;244	ENSP00000338041:H211L;ENSP00000351619:H244L;ENSP00000308466:H244L;ENSP00000395534:H244L	ENSP00000308466:H244L	H	-	2	0	PBLD	69715134	0.977000	0.34250	0.974000	0.42286	0.963000	0.63663	5.608000	0.67654	1.981000	0.57761	0.460000	0.39030	CAT		0.433	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		30	125	0	0	0	1	0	30	125				
ASTN2	23245	broad.mit.edu	37	9	119204767	119204767	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:119204767G>A	ENST00000313400.4	-	21	3663	c.3563C>T	c.(3562-3564)aCg>aTg	p.T1188M	ASTN2_ENST00000361209.2_Missense_Mutation_p.T1137M|ASTN2_ENST00000361477.3_Missense_Mutation_p.T240M|ASTN2_ENST00000288520.5_Missense_Mutation_p.T289M|ASTN2_ENST00000373996.3_Missense_Mutation_p.T1184M|ASTN2_ENST00000341734.4_Missense_Mutation_p.T240M			O75129	ASTN2_HUMAN	astrotactin 2	1188	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGACAGGCCGTCCTCAGGGT	0.512																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3562-3564)aCg>aTg		astrotactin 2							212.0	177.0	189.0					9																	119204767		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119204767G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3563C>T	9.37:g.119204767G>A	ENSP00000314038:p.Thr1188Met					ASTN2_ENST00000361477.3_Missense_Mutation_p.T240M|ASTN2_ENST00000361209.2_Missense_Mutation_p.T1137M|ASTN2_ENST00000373996.3_Missense_Mutation_p.T1184M|ASTN2_ENST00000288520.5_Missense_Mutation_p.T289M|ASTN2_ENST00000341734.4_Missense_Mutation_p.T240M	p.T1188M			O75129	ASTN2_HUMAN			21	3663	-			1188			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3563C>T		.	.	.	.	.	.	.	.	.	.	G	17.02	3.281299	0.59758	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.19938	2.52;2.51;2.11;2.14;2.36;2.54;2.14	5.43	5.43	0.79202	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	N	0.24115	0.695	0.58432	D	0.999999	D;D;D;P;D;D;D	0.58620	0.983;0.983;0.973;0.954;0.975;0.983;0.983	P;P;P;B;P;P;P	0.59643	0.748;0.748;0.536;0.429;0.731;0.748;0.861	T	0.05886	-1.0858	10	0.59425	D	0.04	-9.5191	19.2689	0.94000	0.0:0.0:1.0:0.0	.	240;240;1137;1188;1184;240;289	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	M	1188;1184;289;240;911;1137;240	ENSP00000314038:T1188M;ENSP00000363108:T1184M;ENSP00000288520:T289M;ENSP00000339925:T240M;ENSP00000363098:T911M;ENSP00000354504:T1137M;ENSP00000355116:T240M	ENSP00000288520:T289M	T	-	2	0	ASTN2	118244588	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	7.869000	0.87170	2.546000	0.85860	0.655000	0.94253	ACG		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		16	109	0	0	0	1	0	16	109				
MUC16	94025	broad.mit.edu	37	19	9059462	9059462	+	Silent	SNP	A	A	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:9059462A>T	ENST00000397910.4	-	3	28187	c.27984T>A	c.(27982-27984)tcT>tcA	p.S9328S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9330	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTTCTGCTAGAAGAGATGG	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27982-27984)tcT>tcA		mucin 16, cell surface associated							159.0	155.0	156.0					19																	9059462		1991	4171	6162	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059462A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27984T>A	19.37:g.9059462A>T							p.S9328S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28187	-			9330			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27984T>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		70	128	0	0	0	1	0	70	128				
EML2	24139	broad.mit.edu	37	19	46117912	46117912	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:46117912C>T	ENST00000245925.3	-	17	1694	c.1644G>A	c.(1642-1644)agG>agA	p.R548R	EML2_ENST00000589876.1_Silent_p.R548R|EML2_ENST00000587152.1_Silent_p.R749R|EML2_ENST00000536630.1_Silent_p.R695R	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	548	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ATTCCATGTTCCTCACAGCAT	0.522																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(2083-2085)agG>agA		echinoderm microtubule associated protein like 2							272.0	224.0	240.0					19																	46117912		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46117912C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1644G>A	19.37:g.46117912C>T						EML2_ENST00000587152.1_Silent_p.R749R|EML2_ENST00000245925.3_Silent_p.R548R|EML2_ENST00000589876.1_Silent_p.R548R	p.R695R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	20	2223	-		Ovarian(192;0.179)|all_neural(266;0.224)	548					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.2085G>A	CCDS12670.1																																																																																				0.522	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		32	167	0	0	0	1	0	32	167				
ZAN	7455	broad.mit.edu	37	7	100350033	100350033	+	RNA	SNP	T	T	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:100350033T>C	ENST00000348028.3	+	0	2470				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.522																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							143.0	160.0	154.0					7																	100350033		1832	4071	5903			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350033T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350033T>C						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2453	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	t	4.272	0.049510	0.08243	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62639	0.07;0.01;0.07	3.65	-0.219	0.13135	.	.	.	.	.	T	0.32376	0.0827	N	0.02315	-0.6	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19224	-1.0312	9	0.33141	T	0.24	.	8.1166	0.30946	0.0:0.5985:0.0:0.4015	.	769;769	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	769	ENSP00000445943:S769P;ENSP00000445091:S769P;ENSP00000444427:S769P	ENSP00000423579:S769P	S	+	1	0	ZAN	100187969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.302000	0.19192	-0.057000	0.13199	-0.859000	0.03014	TCC		0.522	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	150	0	0	0	1	0	8	150				
GOLGA4	2803	broad.mit.edu	37	3	37365649	37365649	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:37365649A>G	ENST00000361924.2	+	14	2646	c.2272A>G	c.(2272-2274)Att>Gtt	p.I758V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I780V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	758	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAAGATCAAATTAATCAACT	0.383																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2272-2274)Att>Gtt		golgin A4							71.0	71.0	71.0					3																	37365649		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37365649A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2272A>G	3.37:g.37365649A>G	ENSP00000354486:p.Ile758Val					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I780V	p.I758V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	2646	+			758			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.2272A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	7.059	0.566057	0.13560	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.24908	1.88;1.88;1.83	5.25	-0.0539	0.13816	.	0.240353	0.21485	N	0.073772	T	0.18383	0.0441	L	0.58669	1.825	0.27689	N	0.946188	B;B;B;B	0.12013	0.005;0.002;0.001;0.001	B;B;B;B	0.14023	0.01;0.006;0.006;0.003	T	0.36163	-0.9759	10	0.10111	T	0.7	.	6.2672	0.20934	0.5674:0.2404:0.1922:0.0	.	758;758;780;758	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	V	758;780;319;629	ENSP00000354486:I758V;ENSP00000349305:I780V;ENSP00000405842:I629V	ENSP00000349305:I780V	I	+	1	0	GOLGA4	37340653	0.979000	0.34478	0.873000	0.34254	0.557000	0.35523	0.490000	0.22403	-0.166000	0.10890	-0.993000	0.02533	ATT		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		13	64	0	0	0	1	0	13	64				
AMPH	273	broad.mit.edu	37	7	38424508	38424508	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:38424508C>T	ENST00000356264.2	-	21	2214	c.1999G>A	c.(1999-2001)Gga>Aga	p.G667R	AMPH_ENST00000428293.2_Missense_Mutation_p.G625R|AMPH_ENST00000325590.5_Missense_Mutation_p.G625R	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	667	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCTTCACTCCCACCAGCCAG	0.458																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1999-2001)Gga>Aga		amphiphysin							98.0	93.0	94.0					7																	38424508		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38424508C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1999G>A	7.37:g.38424508C>T	ENSP00000348602:p.Gly667Arg					AMPH_ENST00000428293.2_Missense_Mutation_p.G625R|AMPH_ENST00000325590.5_Missense_Mutation_p.G625R	p.G667R	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			21	2214	-			667			SH3.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1999G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.698140|4.698140	0.88830|0.88830	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|T;T;T	.|0.65732	.|-0.17;-0.17;-0.17	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Src homology-3 domain (3);Variant SH3 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.88983|0.88983	0.6586|0.6586	H|H	0.99117|0.99117	4.435|4.435	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.93140|0.93140	0.6540|0.6540	6|10	.|0.87932	.|D	.|0	-26.6082|-26.6082	19.9249|19.9249	0.97099|0.97099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|625;667;555	.|P49418-2;P49418;Q8NFL4	.|.;AMPH_HUMAN;.	E|R	549|625;667;625;569	.|ENSP00000317441:G625R;ENSP00000348602:G667R;ENSP00000390734:G625R	.|ENSP00000317441:G625R	G|G	-|-	2|1	0|0	AMPH|AMPH	38391033|38391033	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	6.834000|6.834000	0.75339|0.75339	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.458	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		17	76	0	0	0	1	0	17	76				
CNTNAP2	26047	broad.mit.edu	37	7	147183111	147183111	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:147183111C>G	ENST00000361727.3	+	11	2271	c.1755C>G	c.(1753-1755)taC>taG	p.Y585*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	585	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGACAGGATACAGTGGGGCCA	0.468										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1753-1755)taC>taG		contactin associated protein-like 2							113.0	102.0	106.0					7																	147183111		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183111C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1755C>G	7.37:g.147183111C>G	ENSP00000354778:p.Tyr585*	HNSCC(39;0.1)					p.Y585*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2271	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	585			EGF-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.1755C>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	44	11.261811	0.99538	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1924	0.54278	0.0:0.922:0.0:0.078	.	.	.	.	X	585	.	ENSP00000354778:Y585X	Y	+	3	2	CNTNAP2	146814044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.970000	0.56824	2.783000	0.95769	0.655000	0.94253	TAC		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			7	78	0	0	0	1	0	7	78				
HSPB3	8988	broad.mit.edu	37	5	53751746	53751746	+	Missense_Mutation	SNP	G	G	T	rs372203645		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:53751746G>T	ENST00000302005.1	+	1	302	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	43					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GCCAACCATCGTGGACCTGAG	0.552																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(127-129)Gtg>Ttg		heat shock 27kDa protein 3							71.0	68.0	69.0					5																	53751746		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751746G>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.127G>T	5.37:g.53751746G>T	ENSP00000303394:p.Val43Leu						p.V43L	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	302	+		Lung NSC(810;0.00104)	43						Missense_Mutation	SNP	ENST00000302005.1	37	c.127G>T	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	3.614	-0.079022	0.07141	.	.	ENSG00000169271	ENST00000302005	D	0.90900	-2.75	6.03	4.26	0.50523	.	0.997467	0.08120	N	0.994825	D	0.84170	0.5413	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66598	-0.5883	10	0.09843	T	0.71	-36.922	9.0769	0.36527	0.1313:0.1231:0.7456:0.0	.	43	Q12988	HSPB3_HUMAN	L	43	ENSP00000303394:V43L	ENSP00000303394:V43L	V	+	1	0	HSPB3	53787503	0.003000	0.15002	0.963000	0.40424	0.033000	0.12548	0.211000	0.17474	0.880000	0.35969	-0.844000	0.03045	GTG		0.552	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			8	82	1	0	5.18039e-06	1	5.37226e-06	8	82				
FRMPD2	143162	broad.mit.edu	37	10	49393657	49393657	+	Silent	SNP	T	T	A	rs369618533		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:49393657T>A	ENST00000374201.3	-	18	2600	c.2298A>T	c.(2296-2298)atA>atT	p.I766I	FRMPD2_ENST00000305531.3_Silent_p.I741I|FRMPD2_ENST00000407470.4_Silent_p.I734I	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	766					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCGGTTCAGCTATAAAGCTCT	0.473																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(2296-2298)atA>atT		FERM and PDZ domain containing 2							169.0	155.0	160.0					10																	49393657		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49393657T>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2298A>T	10.37:g.49393657T>A						FRMPD2_ENST00000305531.3_Silent_p.I741I|FRMPD2_ENST00000407470.4_Silent_p.I734I	p.I766I	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	18	2600	-			766					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.2298A>T	CCDS31195.1																																																																																				0.473	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		22	67	0	0	0	1	0	22	67				
SLIT1	6585	broad.mit.edu	37	10	98762697	98762697	+	Silent	SNP	G	G	A	rs148583876		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:98762697G>A	ENST00000266058.4	-	35	4163	c.3918C>T	c.(3916-3918)aaC>aaT	p.N1306N	SLIT1_ENST00000371070.4_Silent_p.N1306N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1306	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCCGGTGCCGTTGAGGATCT	0.607																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3916-3918)aaC>aaT		slit homolog 1 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	144.0	145.0	145.0		3918	-9.3	0.5	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	SLIT1	NM_003061.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1306/1535	98762697	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762697G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3918C>T	10.37:g.98762697G>A						SLIT1_ENST00000371070.4_Silent_p.N1306N|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.N1306N	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	35	4163	-		Colorectal(252;0.162)	1306			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3918C>T	CCDS7453.1																																																																																				0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		69	232	0	0	0	1	0	69	232				
TRIM7	81786	broad.mit.edu	37	5	180627055	180627055	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:180627055C>T	ENST00000274773.7	-	3	706	c.645G>A	c.(643-645)aaG>aaA	p.K215K	TRIM7_ENST00000504241.1_5'Flank|CTC-338M12.6_ENST00000514784.1_RNA|TRIM7_ENST00000393315.1_Silent_p.K7K|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Silent_p.K33K|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Silent_p.K7K|TRIM7_ENST00000422067.2_Silent_p.K7K|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000419707.2_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	215						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTGCCCCCACCTTCTCCTGCT	0.602																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(19-21)aaG>aaA		tripartite motif containing 7							68.0	67.0	67.0					5																	180627055		2203	4300	6503	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180627055C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.645G>A	5.37:g.180627055C>T						TRIM7_ENST00000393319.3_Silent_p.K33K|TRIM7_ENST00000274773.7_Silent_p.K215K|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000422067.2_Silent_p.K7K|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.K7K|CTC-338M12.6_ENST00000419707.2_RNA	p.K7K	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	3	718	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	215					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.21G>A	CCDS4462.1																																																																																				0.602	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		51	57	0	0	0	1	0	51	57				
SLC5A7	60482	broad.mit.edu	37	2	108608643	108608643	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:108608643C>T	ENST00000264047.2	+	3	536	c.260C>T	c.(259-261)gCa>gTa	p.A87V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A87V|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	87					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGGCTCAGGCACCAATTGGA	0.413																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(259-261)gCa>gTa		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						149.0	129.0	135.0					2																	108608643		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608643C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.260C>T	2.37:g.108608643C>T	ENSP00000264047:p.Ala87Val					SLC5A7_ENST00000409059.1_Missense_Mutation_p.A87V|SLC5A7_ENST00000540517.1_5'UTR	p.A87V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			3	536	+			87					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.260C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104811	0.94245	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.87412	-2.25;-2.25	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	M	0.77616	2.38	0.80722	D	1	P	0.46395	0.877	P	0.48654	0.585	D	0.90213	0.4266	10	0.49607	T	0.09	-20.9661	20.8598	0.99761	0.0:1.0:0.0:0.0	.	87	Q9GZV3	SC5A7_HUMAN	V	87	ENSP00000387346:A87V;ENSP00000264047:A87V	ENSP00000264047:A87V	A	+	2	0	SLC5A7	107975075	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GCA		0.413	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			13	53	0	0	0	1	0	13	53				
NELFA	7469	broad.mit.edu	37	4	1985046	1985046	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr4:1985046C>T	ENST00000411638.2	-	11	1602	c.1587G>A	c.(1585-1587)taG>taA	p.*529*	NELFA_ENST00000382882.3_Silent_p.*540*|NELFA_ENST00000542778.1_Silent_p.*394*	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	0					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCAGGTGGTTCTAGGACACAT	0.577																																						ENST00000382882.3																			0											c.(1618-1620)taG>taA		negative elongation factor complex member A							116.0	101.0	106.0					4																	1985046		2203	4300	6503	SO:0001819	synonymous_variant	7469							g.chr4:1985046C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1587G>A	4.37:g.1985046C>T						NELFA_ENST00000411638.1_Silent_p.*529*|NELFA_ENST00000542778.1_Silent_p.*394*	p.*540*	NM_005663.4	NP_005654.3					11	2737	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1620G>A																																																																																					0.577	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		9	97	0	0	0	1	0	9	97				
EML1	2009	broad.mit.edu	37	14	100387174	100387174	+	Silent	SNP	A	A	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr14:100387174A>T	ENST00000262233.6	+	17	2008	c.1869A>T	c.(1867-1869)acA>acT	p.T623T	EML1_ENST00000334192.4_Silent_p.T642T|EML1_ENST00000327921.9_Silent_p.T611T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	623	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTTCACACAGATGGAAACG	0.353																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1867-1869)acA>acT		echinoderm microtubule associated protein like 1							135.0	129.0	131.0					14																	100387174		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100387174A>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1869A>T	14.37:g.100387174A>T						EML1_ENST00000327921.9_Silent_p.T611T|EML1_ENST00000334192.4_Silent_p.T642T	p.T623T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			17	2008	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	623					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.1869A>T	CCDS32155.1																																																																																				0.353	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		13	80	0	0	0	1	0	13	80				
VPS13D	55187	broad.mit.edu	37	1	12321202	12321202	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:12321202C>G	ENST00000358136.3	+	12	1540	c.1410C>G	c.(1408-1410)atC>atG	p.I470M	VPS13D_ENST00000356315.4_Missense_Mutation_p.I470M	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGAAGAGATCCTGGGTACGG	0.478																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(1408-1410)atC>atG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							96.0	99.0	98.0					1																	12321202		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12321202C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1410C>G	1.37:g.12321202C>G	ENSP00000350854:p.Ile470Met					VPS13D_ENST00000356315.4_Missense_Mutation_p.I470M	p.I470M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	12	1540	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	470						Missense_Mutation	SNP	ENST00000358136.3	37	c.1410C>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707492	0.48412	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.45276	0.9;0.9	5.84	2.76	0.32466	.	0.059251	0.64402	D	0.000007	T	0.54532	0.1864	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.95	T	0.55811	-0.8082	10	0.72032	D	0.01	.	7.13	0.25496	0.1915:0.6569:0.0:0.1517	.	470;470	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	M	470	ENSP00000348666:I470M;ENSP00000350854:I470M	ENSP00000348666:I470M	I	+	3	3	VPS13D	12243789	0.463000	0.25799	1.000000	0.80357	0.980000	0.70556	-0.214000	0.09292	1.485000	0.48380	0.655000	0.94253	ATC		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		31	169	0	0	0	1	0	31	169				
MCM3	4172	broad.mit.edu	37	6	52138596	52138596	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:52138596G>C	ENST00000229854.7	-	10	1569	c.1493C>G	c.(1492-1494)tCa>tGa	p.S498*	MCM3_ENST00000419835.2_Nonsense_Mutation_p.S452*|MCM3_ENST00000476448.1_5'Flank|MCM3_ENST00000596288.1_Nonsense_Mutation_p.S543*			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	498	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GACATGGTCTGAGATCTCCCG	0.507																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1627-1629)tCa>tGa		minichromosome maintenance complex component 3							149.0	113.0	125.0					6																	52138596		2203	4300	6503	SO:0001587	stop_gained	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52138596G>C	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1493C>G	6.37:g.52138596G>C	ENSP00000229854:p.Ser498*					MCM3_ENST00000419835.2_Nonsense_Mutation_p.S452*|MCM3_ENST00000229854.7_Nonsense_Mutation_p.S498*	p.S543*	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			10	1655	-	Lung NSC(77;0.0931)		498					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Nonsense_Mutation	SNP	ENST00000229854.7	37	c.1628C>G		.	.	.	.	.	.	.	.	.	.	G	40	8.218261	0.98712	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.8239	19.1741	0.93597	0.0:0.0:1.0:0.0	.	.	.	.	X	498;452	.	ENSP00000229854:S498X	S	-	2	0	MCM3	52246555	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	7.674000	0.83992	2.759000	0.94783	0.563000	0.77884	TCA		0.507	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			33	96	0	0	0	1	0	33	96				
NRXN1	9378	broad.mit.edu	37	2	51255135	51255135	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:51255135A>T	ENST00000406316.2	-	2	1753	c.277T>A	c.(277-279)Ttc>Atc	p.F93I	NRXN1_ENST00000404971.1_Missense_Mutation_p.F93I|NRXN1_ENST00000402717.3_Missense_Mutation_p.F93I|NRXN1_ENST00000405472.3_Missense_Mutation_p.F93I|NRXN1_ENST00000406859.3_Missense_Mutation_p.F93I|NRXN1_ENST00000405581.1_Missense_Mutation_p.F93I|NRXN1_ENST00000401669.2_Missense_Mutation_p.F93I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	93	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGATGGAGAAGCTGAGCTGC	0.682																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(277-279)Ttc>Atc		neurexin 1							14.0	19.0	17.0					2																	51255135		2016	4163	6179	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255135A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.277T>A	2.37:g.51255135A>T	ENSP00000384311:p.Phe93Ile					NRXN1_ENST00000405581.1_Missense_Mutation_p.F93I|NRXN1_ENST00000406316.2_Missense_Mutation_p.F93I|NRXN1_ENST00000405472.3_Missense_Mutation_p.F93I|NRXN1_ENST00000402717.3_Missense_Mutation_p.F93I|NRXN1_ENST00000401669.2_Missense_Mutation_p.F93I|NRXN1_ENST00000406859.3_Missense_Mutation_p.F93I	p.F93I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1616	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	93			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.277T>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408587	0.62399	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.328242	0.19971	U	0.101999	D	0.85309	0.5667	M	0.65975	2.015	0.34091	D	0.660744	P;D;B	0.69078	0.883;0.997;0.127	P;D;B	0.83275	0.645;0.996;0.059	D	0.85892	0.1429	10	0.16896	T	0.51	.	14.6578	0.68847	1.0:0.0:0.0:0.0	.	93;93;93	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	I	93	ENSP00000385142:F93I;ENSP00000384311:F93I;ENSP00000434015:F93I;ENSP00000385017:F93I;ENSP00000385434:F93I;ENSP00000385681:F93I;ENSP00000385310:F93I	ENSP00000385017:F93I	F	-	1	0	NRXN1	51108639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.996000	0.70639	1.860000	0.53959	0.460000	0.39030	TTC		0.682	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	35	0	0	0	1	0	5	35				
SSX2IP	117178	broad.mit.edu	37	1	85116066	85116066	+	Missense_Mutation	SNP	C	C	A	rs375917613		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:85116066C>A	ENST00000342203.3	-	13	1912	c.1649G>T	c.(1648-1650)cGt>cTt	p.R550L	SSX2IP_ENST00000605755.1_Missense_Mutation_p.R523L|SSX2IP_ENST00000603677.1_Missense_Mutation_p.R69L|SSX2IP_ENST00000437941.2_Missense_Mutation_p.R523L|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R550L	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	550					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATGCAGGAACGTGTCTGGCA	0.413																																						ENST00000437941.2																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(1567-1569)cGt>cTt		synovial sarcoma, X breakpoint 2 interacting protein							141.0	139.0	139.0					1																	85116066		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85116066C>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1649G>T	1.37:g.85116066C>A	ENSP00000340279:p.Arg550Leu					SSX2IP_ENST00000603677.1_Missense_Mutation_p.R69L|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R523L|SSX2IP_ENST00000342203.3_Missense_Mutation_p.R550L|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R550L	p.R523L	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	12	1920	-			550					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.1568G>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389274	0.25118	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000370612	T;T	0.43294	0.95;0.95	5.67	2.48	0.30137	.	0.731603	0.13955	N	0.351243	T	0.03915	0.0110	N	0.02916	-0.46	0.18873	N	0.999984	B;B;B	0.16802	0.001;0.019;0.019	B;B;B	0.14578	0.001;0.011;0.007	T	0.44636	-0.9315	10	0.02654	T	1	.	4.4198	0.11474	0.1886:0.6233:0.0:0.1881	.	550;550;523	Q9Y2D8-2;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	L	550;523;550	ENSP00000340279:R550L;ENSP00000412781:R523L	ENSP00000340279:R550L	R	-	2	0	SSX2IP	84888654	0.137000	0.22531	0.950000	0.38849	0.426000	0.31534	0.833000	0.27504	1.361000	0.45981	0.655000	0.94253	CGT		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		32	154	1	0	2.61193e-14	1	2.8568e-14	32	154				
TMEM72	643236	broad.mit.edu	37	10	45430235	45430235	+	Missense_Mutation	SNP	G	G	A	rs201160000		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:45430235G>A	ENST00000544540.1	+	4	611	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	161						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GAGCACCACCGGCTCTGGGGA	0.587																																						ENST00000544540.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						c.(127-129)Ggc>Agc		transmembrane protein 72		G	SER/GLY	3,3133		0,3,1565	108.0	114.0	112.0		481	3.3	0.9	10		112	0,7164		0,0,3582	yes	missense	TMEM72	NM_001123376.1	56	0,3,5147	AA,AG,GG		0.0,0.0957,0.0291	probably-damaging	161/276	45430235	3,10297	1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430235G>A	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.127G>A	10.37:g.45430235G>A	ENSP00000439911:p.Gly43Ser					TMEM72-AS1_ENST00000450287.2_RNA	p.G43S			A0PK05	TMM72_HUMAN			4	611	+			161					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.127G>A		.	.	.	.	.	.	.	.	.	.	G	14.12	2.441548	0.43326	9.57E-4	0.0	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.28	3.28	0.37604	.	0.309705	0.26446	N	0.024339	T	0.47021	0.1423	M	0.63428	1.95	0.09310	N	0.999998	D	0.67145	0.996	P	0.59221	0.854	T	0.35748	-0.9776	9	0.08179	T	0.78	-2.8584	7.2473	0.26129	0.0884:0.333:0.5787:0.0	.	161	A0PK05	TMM72_HUMAN	S	161;43	.	ENSP00000374234:G161S	G	+	1	0	TMEM72	44750241	0.407000	0.25352	0.908000	0.35775	0.777000	0.43975	1.178000	0.31981	1.355000	0.45865	0.563000	0.77884	GGC		0.587	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		67	213	0	0	0	1	0	67	213				
GRIN2B	2904	broad.mit.edu	37	12	13764681	13764681	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr12:13764681G>T	ENST00000609686.1	-	8	1967	c.1758C>A	c.(1756-1758)aaC>aaA	p.N586K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	586					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGAGGCACCTGTTATAACCCA	0.493																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1756-1758)aaC>aaA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						116.0	112.0	113.0					12																	13764681		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13764681G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1758C>A	12.37:g.13764681G>T	ENSP00000477455:p.Asn586Lys						p.N586K	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			8	1967	-			586					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1758C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533962	0.85812	.	.	ENSG00000150086	ENST00000279593	T	0.52057	0.68	6.09	6.09	0.99107	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64322	-0.6435	10	0.87932	D	0	.	14.2523	0.66028	0.076:0.0:0.924:0.0	.	586	Q13224	NMDE2_HUMAN	K	586	ENSP00000279593:N586K	ENSP00000279593:N586K	N	-	3	2	GRIN2B	13655948	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.522000	0.73783	2.899000	0.99337	0.655000	0.94253	AAC		0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			42	134	1	0	9.39024e-22	1	1.07757e-21	42	134				
ALDH1B1	219	broad.mit.edu	37	9	38396287	38396287	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:38396287A>G	ENST00000377698.3	+	2	695	c.542A>G	c.(541-543)cAg>cGg	p.Q181R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	181					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		GTCTGTGGCCAGATCATCCCG	0.582																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(541-543)cAg>cGg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						87.0	85.0	86.0					9																	38396287		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396287A>G	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.542A>G	9.37:g.38396287A>G	ENSP00000366927:p.Gln181Arg						p.Q181R	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	695	+			181					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.542A>G	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.632015	0.67015	.	.	ENSG00000137124	ENST00000377698	T	0.15952	2.38	5.61	5.61	0.85477	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000018	T	0.40522	0.1120	M	0.70787	2.145	0.51482	D	0.999924	D	0.59357	0.985	D	0.68192	0.956	T	0.26950	-1.0088	10	0.87932	D	0	.	13.7615	0.62968	1.0:0.0:0.0:0.0	.	181	P30837	AL1B1_HUMAN	R	181	ENSP00000366927:Q181R	ENSP00000366927:Q181R	Q	+	2	0	ALDH1B1	38386287	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.694000	0.68272	2.141000	0.66446	0.533000	0.62120	CAG		0.582	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			39	75	0	0	0	1	0	39	75				
SLFN13	146857	broad.mit.edu	37	17	33772191	33772191	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:33772191G>A	ENST00000285013.6	-	3	784	c.509C>T	c.(508-510)tCt>tTt	p.S170F	SLFN13_ENST00000526861.1_Missense_Mutation_p.S170F|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.S170F|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.S170F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	170						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACTAGGTGGAGACCCTTCATT	0.378																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(508-510)tCt>tTt		schlafen family member 13							97.0	105.0	102.0					17																	33772191		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33772191G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.509C>T	17.37:g.33772191G>A	ENSP00000285013:p.Ser170Phe					SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.S170F|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.S170F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S170F	p.S170F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	784	-			170					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.509C>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	G	6.241	0.412635	0.11812	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.02121	4.44;4.44;4.44	1.8	-2.06	0.07298	.	.	.	.	.	T	0.01092	0.0036	N	0.17082	0.46	0.09310	N	1	P	0.46277	0.875	B	0.31614	0.133	T	0.47302	-0.9128	9	0.52906	T	0.07	.	2.6705	0.05066	0.3804:0.2603:0.3593:0.0	.	170	Q68D06	SLN13_HUMAN	F	170	ENSP00000285013:S170F;ENSP00000434439:S170F;ENSP00000444016:S170F	ENSP00000285013:S170F	S	-	2	0	SLFN13	30796304	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.022000	0.12480	-0.514000	0.06488	0.514000	0.50259	TCT		0.378	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		5	163	0	0	0	1	0	5	163				
ZNF211	10520	broad.mit.edu	37	19	58153055	58153055	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:58153055G>A	ENST00000347302.3	+	3	1380	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZNF211_ENST00000541801.1_Missense_Mutation_p.E392K|ZNF211_ENST00000240731.4_Missense_Mutation_p.E414K|ZNF211_ENST00000544273.1_Missense_Mutation_p.E413K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E392K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E405K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E340K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E466K	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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)		TGAGTGCAATGAATGTGGAAA	0.458																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1237-1239)Gaa>Aaa		zinc finger protein 211							68.0	74.0	72.0					19																	58153055		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153055G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1201G>A	19.37:g.58153055G>A	ENSP00000339562:p.Glu401Lys					ZNF211_ENST00000541801.1_Missense_Mutation_p.E392K|ZNF211_ENST00000240731.4_Missense_Mutation_p.E414K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E340K|ZNF211_ENST00000347302.3_Missense_Mutation_p.E401K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E405K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E466K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E392K	p.E413K			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1564	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	401					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1237G>A	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	g	14.01	2.407087	0.42715	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16685	0.0401	N	0.21545	0.675	0.23406	N	0.997746	D;D;D;B;D;D	0.71674	0.994;0.994;0.998;0.333;0.995;0.995	P;P;D;B;P;P	0.72625	0.748;0.748;0.978;0.035;0.837;0.837	T	0.15321	-1.0441	9	0.54805	T	0.06	.	14.4153	0.67145	0.0:0.0:1.0:0.0	.	405;413;466;392;401;414	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	K	405;401;392;340;392;466;413;414	ENSP00000399193:E405K;ENSP00000339562:E401K;ENSP00000254182:E392K;ENSP00000375584:E340K;ENSP00000442601:E392K;ENSP00000299871:E466K;ENSP00000441386:E413K;ENSP00000240731:E414K	ENSP00000240731:E414K	E	+	1	0	ZNF211	62844867	0.000000	0.05858	0.814000	0.32528	0.900000	0.52787	0.428000	0.21395	1.989000	0.58080	0.585000	0.79938	GAA		0.458	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			11	70	0	0	0	1	0	11	70				
NR4A2	4929	broad.mit.edu	37	2	157186571	157186571	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:157186571C>T	ENST00000339562.4	-	3	490	c.128G>A	c.(127-129)aGc>aAc	p.S43N	NR4A2_ENST00000409108.2_Missense_Mutation_p.S43N|NR4A2_ENST00000539077.1_Missense_Mutation_p.S54N|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.S43N|NR4A2_ENST00000426264.1_Intron	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	43					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GAGGTCCATGCTAAACTTGAC	0.512																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(127-129)aGc>aAc		nuclear receptor subfamily 4, group A, member 2							116.0	119.0	118.0					2																	157186571		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186571C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.128G>A	2.37:g.157186571C>T	ENSP00000344479:p.Ser43Asn					NR4A2_ENST00000539077.1_Missense_Mutation_p.S54N|NR4A2_ENST00000409572.1_Missense_Mutation_p.S43N|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Missense_Mutation_p.S43N|NR4A2_ENST00000426264.1_Intron	p.S43N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	490	-			43					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.128G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669749	0.67814	.	.	ENSG00000153234	ENST00000339562;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000424077	D;D;D;D;T	0.91945	-2.74;-2.74;-2.74;-2.94;-1.11	5.43	5.43	0.79202	.	0.812977	0.11837	N	0.524684	D	0.86977	0.6063	N	0.14661	0.345	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.78380	-0.2226	10	0.40728	T	0.16	.	19.4202	0.94719	0.0:1.0:0.0:0.0	.	43	P43354	NR4A2_HUMAN	N	43;43;54;43;43	ENSP00000344479:S43N;ENSP00000386747:S43N;ENSP00000444925:S54N;ENSP00000386993:S43N;ENSP00000406808:S43N	ENSP00000344479:S43N	S	-	2	0	NR4A2	156894817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.945000	0.56637	2.825000	0.97269	0.655000	0.94253	AGC		0.512	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			33	58	0	0	0	1	0	33	58				
RWDD2A	112611	broad.mit.edu	37	6	83905854	83905854	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:83905854G>C	ENST00000369724.4	+	3	947	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.E194Q|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	248										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GTTACTCCTTGAGGCTCATGG	0.418																																						ENST00000369724.4																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(742-744)Gag>Cag		RWD domain containing 2A							108.0	105.0	106.0					6																	83905854		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83905854G>C	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.742G>C	6.37:g.83905854G>C	ENSP00000358739:p.Glu248Gln					RWDD2A_ENST00000539997.1_Missense_Mutation_p.E194Q	p.E248Q	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	3	947	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	248					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.742G>C	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	G	6.111	0.388785	0.11581	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.38	5.38	0.77491	Domain of unknown function DUF1115 (1);	0.254913	0.35096	N	0.003444	T	0.10766	0.0263	N	0.15975	0.35	0.28873	N	0.894852	B	0.18166	0.026	B	0.22386	0.039	T	0.08186	-1.0734	9	0.22706	T	0.39	-28.9822	8.2389	0.31645	0.0835:0.2069:0.7096:0.0	.	248	Q9UIY3	RWD2A_HUMAN	Q	248;194	.	ENSP00000358739:E248Q	E	+	1	0	RWDD2A	83962573	1.000000	0.71417	0.999000	0.59377	0.274000	0.26718	4.806000	0.62569	2.793000	0.96121	0.655000	0.94253	GAG		0.418	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		15	93	0	0	0	1	0	15	93				
SSTR5	6755	broad.mit.edu	37	16	1129719	1129719	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:1129719G>A	ENST00000293897.4	+	1	939	c.851G>A	c.(850-852)gGc>gAc	p.G284D	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.G284D	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	284					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCCTCCGCCGGCCTCTACTTC	0.617																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(850-852)gGc>gAc		somatostatin receptor 5	Octreotide(DB00104)						70.0	80.0	76.0					16																	1129719		2193	4294	6487	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129719G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.851G>A	16.37:g.1129719G>A	ENSP00000293897:p.Gly284Asp					SSTR5_ENST00000397547.2_Missense_Mutation_p.G284D|SSTR5_ENST00000562758.1_Intron	p.G284D	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	939	+		Hepatocellular(780;0.00369)	284					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.851G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777745	0.31502	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.37058	1.22;1.22	4.76	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.116190	0.64402	U	0.000019	T	0.39410	0.1077	L	0.41824	1.3	0.37170	D	0.903007	P	0.45176	0.852	P	0.49085	0.6	T	0.47774	-0.9091	10	0.59425	D	0.04	.	13.3193	0.60424	0.0:0.0:0.8406:0.1594	.	284	P35346	SSR5_HUMAN	D	284	ENSP00000380680:G284D;ENSP00000293897:G284D	ENSP00000293897:G284D	G	+	2	0	SSTR5	1069720	1.000000	0.71417	0.813000	0.32504	0.007000	0.05969	5.544000	0.67231	0.982000	0.38575	-0.314000	0.08810	GGC		0.617	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			33	77	0	0	0	1	0	33	77				
AURKA	6790	broad.mit.edu	37	20	54961341	54961341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr20:54961341C>A	ENST00000347343.2	-	3	558	c.291G>T	c.(289-291)aaG>aaT	p.K97N	AURKA_ENST00000395913.3_Missense_Mutation_p.K97N|AURKA_ENST00000371356.2_Missense_Mutation_p.K97N|AURKA_ENST00000395914.1_Missense_Mutation_p.K97N|AURKA_ENST00000312783.6_Missense_Mutation_p.K97N|AURKA_ENST00000395909.4_Missense_Mutation_p.K97N|AURKA_ENST00000395915.3_Missense_Mutation_p.K97N|AURKA_ENST00000395907.1_Missense_Mutation_p.K97N|AURKA_ENST00000395911.1_Missense_Mutation_p.K97N	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	97					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTGCTTGCTCTTTTGGGTGT	0.478																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(289-291)aaG>aaT		aurora kinase A							162.0	140.0	148.0					20																	54961341		2203	4300	6503	SO:0001583	missense	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54961341C>A	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.291G>T	20.37:g.54961341C>A	ENSP00000216911:p.Lys97Asn					AURKA_ENST00000395915.3_Missense_Mutation_p.K97N|AURKA_ENST00000395907.1_Missense_Mutation_p.K97N|AURKA_ENST00000395911.1_Missense_Mutation_p.K97N|AURKA_ENST00000312783.6_Missense_Mutation_p.K97N|AURKA_ENST00000395913.3_Missense_Mutation_p.K97N|AURKA_ENST00000395914.1_Missense_Mutation_p.K97N|AURKA_ENST00000347343.2_Missense_Mutation_p.K97N|AURKA_ENST00000371356.2_Missense_Mutation_p.K97N	p.K97N	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		5	856	-			97					E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	c.291G>T	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	3.544	-0.093164	0.07053	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.5;-0.04;2.7;2.48;2.5	5.34	4.32	0.51571	.	0.323928	0.30036	N	0.010579	T	0.50548	0.1622	N	0.12961	0.28	0.09310	N	1	B;B;B;B;B;B;B	0.15473	0.0;0.013;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B	0.12156	0.001;0.007;0.0;0.001;0.0;0.0;0.001	T	0.27640	-1.0068	10	0.25106	T	0.35	-22.795	10.5803	0.45252	0.113:0.6504:0.2366:0.0	.	97;97;97;97;97;97;97	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	N	97	ENSP00000379245:K97N;ENSP00000379250:K97N;ENSP00000216911:K97N;ENSP00000379251:K97N;ENSP00000321591:K97N;ENSP00000360407:K97N;ENSP00000379249:K97N;ENSP00000379247:K97N;ENSP00000379243:K97N;ENSP00000393452:K97N;ENSP00000388073:K97N;ENSP00000405042:K97N;ENSP00000405170:K97N	ENSP00000321591:K97N	K	-	3	2	AURKA	54394748	0.988000	0.35896	0.632000	0.29296	0.016000	0.09150	1.370000	0.34238	2.664000	0.90586	0.655000	0.94253	AAG		0.478	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		22	213	1	0	1.22574e-08	1	1.29025e-08	22	213				
OR51G2	81282	broad.mit.edu	37	11	4936206	4936206	+	Missense_Mutation	SNP	C	C	T	rs185474285		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr11:4936206C>T	ENST00000322013.3	-	1	716	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V230M(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACAGCACGGTGCGCAGG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22581	0.0		0.0	False		,,,				2504	0.0					ENST00000322013.3																			1	Substitution - Missense(1)	p.V230M(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(688-690)Gtg>Atg		olfactory receptor, family 51, subfamily G, member 2							143.0	112.0	123.0					11																	4936206		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936206C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.688G>A	11.37:g.4936206C>T	ENSP00000322593:p.Val230Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V230M	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	716	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	230					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.688G>A	CCDS31365.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.37	1.330623	0.24167	.	.	ENSG00000176893	ENST00000322013	T	0.00321	8.11	5.58	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000349	T	0.01189	0.0039	H	0.98577	4.27	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24584	-1.0156	10	0.87932	D	0	.	9.7645	0.40552	0.0:0.8432:0.0:0.1568	.	230	Q8NGK0	O51G2_HUMAN	M	230	ENSP00000322593:V230M	ENSP00000322593:V230M	V	-	1	0	OR51G2	4892782	0.907000	0.30839	0.233000	0.24025	0.053000	0.15095	1.830000	0.39131	1.596000	0.50062	0.655000	0.94253	GTG		0.522	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		17	66	0	0	0	1	0	17	66				
MALAT1	378938	broad.mit.edu	37	11	65268685	65268685	+	lincRNA	SNP	A	A	G	rs537584365	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr11:65268685A>G	ENST00000534336.1	+	0	3453				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGCGGGGGGGAGTTTTCAGTA	0.398													A|||	3	0.000599042	0.0	0.0	5008	,	,		12403	0.002		0.0	False		,,,				2504	0.001					ENST00000534336.1																			0																				37.0	43.0	41.0					11																	65268685		873	1988	2861			378938							g.chr11:65268685A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268685A>G								NR_002819.2						0	3453	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.398	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	40	0	0	0	1	0	7	40				
HTR1B	3351	broad.mit.edu	37	6	78172432	78172432	+	Missense_Mutation	SNP	C	C	T	rs532415123	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:78172432C>T	ENST00000369947.2	-	1	1058	c.689G>A	c.(688-690)cGc>cAc	p.R230H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	230					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TACGTAGATGCGGCCATAGAG	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		16036	0.0		0.0	False		,,,				2504	0.002					ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(688-690)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						55.0	58.0	57.0					6																	78172432		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172432C>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.689G>A	6.37:g.78172432C>T	ENSP00000358963:p.Arg230His						p.R230H	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1058	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	230					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.689G>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663163	0.88251	.	.	ENSG00000135312	ENST00000369947	T	0.39056	1.1	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.59188	-0.7501	9	.	.	.	.	17.9819	0.89144	0.0:1.0:0.0:0.0	.	230	P28222	5HT1B_HUMAN	H	230	ENSP00000358963:R230H	.	R	-	2	0	HTR1B	78229151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.533000	0.81994	2.728000	0.93425	0.555000	0.69702	CGC		0.607	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		16	72	0	0	0	1	0	16	72				
AGAP3	116988	broad.mit.edu	37	7	150817147	150817147	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:150817147G>A	ENST00000463381.1	+	8	855	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000397238.2_Missense_Mutation_p.R348Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.R348Q|AGAP3_ENST00000335367.3_Missense_Mutation_p.R528Q	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	312	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATCAGCCAGCGGGAGCTGCGC	0.647																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1042-1044)cGg>cAg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							58.0	71.0	66.0					7																	150817147		2174	4275	6449	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150817147G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.359G>A	7.37:g.150817147G>A	ENSP00000418016:p.Arg120Gln					AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Missense_Mutation_p.R528Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.R348Q|AGAP3_ENST00000463381.1_Missense_Mutation_p.R120Q	p.R348Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			8	1043	+			312			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.1043G>A		.	.	.	.	.	.	.	.	.	.	g	20.8	4.053990	0.75960	.	.	ENSG00000133612	ENST00000463381;ENST00000473312;ENST00000397238;ENST00000335355;ENST00000335367;ENST00000468796	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	3.61	2.71	0.32032	.	0.239336	0.27023	U	0.021304	T	0.18299	0.0439	L	0.39898	1.24	0.36493	D	0.868528	P;B;P;P	0.43169	0.791;0.257;0.8;0.751	B;B;B;B	0.35607	0.126;0.014;0.206;0.074	T	0.13522	-1.0506	10	0.29301	T	0.29	.	5.2373	0.15452	0.1079:0.0:0.6857:0.2064	.	528;348;348;120	E7ESL9;Q96P47-4;E9PAL8;B3KNZ8	.;.;.;.	Q	120;348;348;312;528;113	ENSP00000418016:R120Q;ENSP00000418921:R348Q;ENSP00000380413:R348Q;ENSP00000335589:R528Q;ENSP00000418159:R113Q	ENSP00000334157:R312Q	R	+	2	0	AGAP3	150448080	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.794000	0.47853	0.705000	0.31890	0.306000	0.20318	CGG		0.647	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		22	84	0	0	0	1	0	22	84				
MUC16	94025	broad.mit.edu	37	19	9059461	9059461	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:9059461T>C	ENST00000397910.4	-	3	28188	c.27985A>G	c.(27985-27987)Agc>Ggc	p.S9329G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9331	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTTCTGCTAGAAGAGATG	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27985-27987)Agc>Ggc		mucin 16, cell surface associated							159.0	156.0	157.0					19																	9059461		1992	4170	6162	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059461T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27985A>G	19.37:g.9059461T>C	ENSP00000381008:p.Ser9329Gly						p.S9329G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28188	-			9331			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27985A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.210	0.224240	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.43	-1.18	0.09617	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	.	.	.	B	0.28713	0.22	B	0.22880	0.042	T	0.44590	-0.9318	8	0.87932	D	0	.	2.9169	0.05756	0.0:0.3406:0.2559:0.4035	.	9329	B5ME49	.	G	9329	ENSP00000381008:S9329G	ENSP00000381008:S9329G	S	-	1	0	MUC16	8920461	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.053000	0.00627	-0.346000	0.08312	0.378000	0.23410	AGC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	127	0	0	0	1	0	68	127				
HECW2	57520	broad.mit.edu	37	2	197297889	197297889	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:197297889C>A	ENST00000260983.3	-	2	441	c.259G>T	c.(259-261)Gac>Tac	p.D87Y		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	87					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCACTGGGGTCCACCTCCTCT	0.463																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(259-261)Gac>Tac		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							85.0	79.0	81.0					2																	197297889		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197297889C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.259G>T	2.37:g.197297889C>A	ENSP00000260983:p.Asp87Tyr						p.D87Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			2	441	-			87					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.259G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646608	0.87958	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.38401	1.14;1.14;1.14	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64373	-0.6423	10	0.87932	D	0	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	87	Q9P2P5	HECW2_HUMAN	Y	87	ENSP00000260983:D87Y;ENSP00000409918:D87Y;ENSP00000395770:D87Y	ENSP00000260983:D87Y	D	-	1	0	HECW2	197006134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.736000	0.93811	0.561000	0.74099	GAC		0.463	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		7	67	1	0	5.18039e-06	1	5.37226e-06	7	67				
ZNF839	55778	broad.mit.edu	37	14	102805159	102805159	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr14:102805159G>C	ENST00000558850.1	+	6	1668	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	ZNF839_ENST00000559185.1_Missense_Mutation_p.E440Q|ZNF839_ENST00000442396.2_Missense_Mutation_p.E556Q|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000262236.5_Missense_Mutation_p.E440Q|AL137229.1_ENST00000577622.1_RNA	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	440							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCAGGTTGCTGAGTCATTAGG	0.458																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1318-1320)Gag>Cag		zinc finger protein 839							93.0	89.0	90.0					14																	102805159		1929	4145	6074	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102805159G>C	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1318G>C	14.37:g.102805159G>C	ENSP00000453363:p.Glu440Gln					ZNF839_ENST00000559185.1_Missense_Mutation_p.E440Q|ZNF839_ENST00000558850.1_Missense_Mutation_p.E440Q|ZNF839_ENST00000442396.2_Missense_Mutation_p.E556Q|ZNF839_ENST00000420933.2_3'UTR	p.E440Q	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			6	1673	+			440					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.1318G>C	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825345	0.71143	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.20881	2.04;2.04	5.34	4.43	0.53597	.	0.588174	0.17163	N	0.184610	T	0.39091	0.1065	L	0.50333	1.59	0.23464	N	0.997622	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.75484	0.964;0.986;0.947;0.986	T	0.13361	-1.0512	10	0.66056	D	0.02	.	11.4871	0.50361	0.0846:0.0:0.9154:0.0	.	556;440;319;440	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	Q	556;440;108	ENSP00000399863:E556Q;ENSP00000262236:E440Q	ENSP00000262236:E440Q	E	+	1	0	ZNF839	101874912	1.000000	0.71417	0.938000	0.37757	0.850000	0.48378	3.315000	0.51951	1.222000	0.43521	0.558000	0.71614	GAG		0.458	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		12	34	0	0	0	1	0	12	34				
ANKRD1	27063	broad.mit.edu	37	10	92675321	92675321	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:92675321C>T	ENST00000371697.3	-	8	1076	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	276					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TGTTGAGATCCGCGCCATACA	0.458																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(826-828)gcG>gcA		ankyrin repeat domain 1 (cardiac muscle)							112.0	100.0	104.0					10																	92675321		2203	4300	6503	SO:0001819	synonymous_variant	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92675321C>T	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.828G>A	10.37:g.92675321C>T							p.A276A	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			8	1076	-		Colorectal(252;0.0475)	276					Q96LE7	Silent	SNP	ENST00000371697.3	37	c.828G>A	CCDS7412.1																																																																																				0.458	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		7	54	0	0	0	1	0	7	54				
PCDHB16	57717	broad.mit.edu	37	5	140564100	140564100	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:140564100G>A	ENST00000361016.2	+	1	3121	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A656T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706																																						ENST00000361016.2																			1	Substitution - Missense(1)	p.A656T(1)	large_intestine(1)	breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1966-1968)Gcc>Acc									21.0	25.0	23.0					5																	140564100		2165	4244	6409	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564100G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1966G>A	5.37:g.140564100G>A	ENSP00000354293:p.Ala656Thr						p.A656T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3121	+			656			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1966G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.251085	0.39797	.	.	ENSG00000196963	ENST00000361016	T	0.50548	0.74	3.75	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.573872	0.13146	N	0.410254	T	0.43831	0.1265	L	0.43554	1.36	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.43988	-0.9357	10	0.62326	D	0.03	.	15.2277	0.73364	0.0:0.0:1.0:0.0	.	656	Q9NRJ7	PCDBG_HUMAN	T	656	ENSP00000354293:A656T	ENSP00000354293:A656T	A	+	1	0	PCDHB16	140544284	0.001000	0.12720	1.000000	0.80357	0.782000	0.44232	0.923000	0.28757	1.638000	0.50547	0.298000	0.19748	GCC		0.706	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		75	67	0	0	0	1	0	75	67				
TSNARE1	203062	broad.mit.edu	37	8	143396416	143396416	+	Missense_Mutation	SNP	C	C	T	rs188693289		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr8:143396416C>T	ENST00000307180.3	-	8	1139	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R340Q|TSNARE1_ENST00000519651.1_Missense_Mutation_p.R121Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R340Q	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	341					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGTTTTCAGCCGGTCCAGCTG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17047	0.001		0.0	False		,,,				2504	0.0					ENST00000519651.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(361-363)cGg>cAg		t-SNARE domain containing 1							115.0	83.0	94.0					8																	143396416		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143396416C>T			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1022G>A	8.37:g.143396416C>T	ENSP00000303437:p.Arg341Gln					TSNARE1_ENST00000520166.1_Missense_Mutation_p.R340Q|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R340Q|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R341Q	p.R121Q			Q96NA8	TSNA1_HUMAN			6	465	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		341					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.362G>A	CCDS6384.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.501	0.652602	0.14580	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.49	-0.506	0.11989	t-SNARE (1);	0.256528	0.19805	N	0.105674	T	0.22360	0.0539	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.47106	0.89;0.572;0.89;0.89	B;B;B;B	0.30716	0.119;0.051;0.119;0.119	T	0.14699	-1.0463	10	0.87932	D	0	.	7.5537	0.27812	0.0:0.5029:0.0:0.4971	.	340;121;341;341	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	Q	340;341;340;121	ENSP00000428763:R340Q;ENSP00000303437:R341Q;ENSP00000427770:R340Q;ENSP00000429679:R121Q	ENSP00000303437:R341Q	R	-	2	0	TSNARE1	143394323	0.004000	0.15560	0.006000	0.13384	0.271000	0.26615	-0.073000	0.11468	-0.521000	0.06426	-0.827000	0.03088	CGG		0.652	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		4	85	0	0	0	1	0	4	85				
FAT2	2196	broad.mit.edu	37	5	150901065	150901065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:150901065G>A	ENST00000261800.5	-	18	11101	c.11089C>T	c.(11089-11091)Cag>Tag	p.Q3697*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3697					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTAGCTCCTGAAACTCGTAG	0.582																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11089-11091)Cag>Tag		FAT atypical cadherin 2							71.0	70.0	70.0					5																	150901065		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901065G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11089C>T	5.37:g.150901065G>A	ENSP00000261800:p.Gln3697*						p.Q3697*	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	11101	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3697					O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.11089C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.853886|16.853886	0.99873|0.99873	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	.|.	.|.	.|.	5.66|5.66	4.79|4.79	0.61399|0.61399	.|.	0.227342|.	0.30686|.	N|.	0.009088|.	.|T	.|0.65228	.|0.2671	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70974	.|-0.4726	.|3	0.05525|.	T|.	0.97|.	.|.	14.4093|14.4093	0.67103|0.67103	0.0:0.0:0.7312:0.2688|0.0:0.0:0.7312:0.2688	.|.	.|.	.|.	.|.	X|L	3697|555	.|.	ENSP00000261800:Q3697X|.	Q|S	-|-	1|2	0|0	FAT2|FAT2	150881258|150881258	0.643000|0.643000	0.27269|0.27269	0.383000|0.383000	0.26132|0.26132	0.035000|0.035000	0.12851|0.12851	2.951000|2.951000	0.49089|0.49089	1.379000|1.379000	0.46325|0.46325	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		59	51	0	0	0	1	0	59	51				
NPY4R	5540	broad.mit.edu	37	10	47087372	47087372	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:47087372G>C	ENST00000395716.1	+	2	674	c.589G>C	c.(589-591)Gat>Cat	p.D197H	NPY4R_ENST00000374312.1_Missense_Mutation_p.D197H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	197					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GTTCCTGGCGGATAAGGTGGT	0.582																																						ENST00000374312.1																			0											c.(589-591)Gat>Cat		neuropeptide Y receptor Y4							193.0	160.0	171.0					10																	47087372		2203	4300	6503	SO:0001583	missense	5540							g.chr10:47087372G>C		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.589G>C	10.37:g.47087372G>C	ENSP00000379066:p.Asp197His					NPY4R_ENST00000395716.1_Missense_Mutation_p.D197H	p.D197H	NM_005972.4	NP_005963.3					3	1008	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.589G>C	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	g	14.59	2.581352	0.46006	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38887	1.11;1.11	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.051980	0.85682	D	0.000000	T	0.38214	0.1032	L	0.39467	1.215	0.53688	D	0.999979	B	0.32324	0.364	B	0.34931	0.192	T	0.22347	-1.0219	10	0.39692	T	0.17	.	16.0087	0.80380	0.0:0.0:1.0:0.0	.	197	P50391	NPY4R_HUMAN	H	197	ENSP00000363431:D197H;ENSP00000379066:D197H	ENSP00000363431:D197H	D	+	1	0	PPYR1	46507378	1.000000	0.71417	0.940000	0.37924	0.832000	0.47134	9.442000	0.97566	2.460000	0.83146	0.604000	0.83254	GAT		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			18	178	0	0	0	1	0	18	178				
NBEAL1	65065	broad.mit.edu	37	2	204032068	204032068	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:204032068C>T	ENST00000449802.1	+	37	6228	c.5895C>T	c.(5893-5895)ctC>ctT	p.L1965L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1965										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTACTTTCTCAATTTCAAAA	0.383																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5893-5895)ctC>ctT		neurobeachin-like 1							109.0	101.0	103.0					2																	204032068		1800	4076	5876	SO:0001819	synonymous_variant	65065						binding	g.chr2:204032068C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5895C>T	2.37:g.204032068C>T							p.L1965L	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			37	6228	+			1965					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.5895C>T	CCDS46495.1																																																																																				0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			62	80	0	0	0	1	0	62	80				
ADAMTS1	9510	broad.mit.edu	37	21	28210183	28210183	+	Silent	SNP	A	A	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr21:28210183A>G	ENST00000284984.3	-	9	3073	c.2619T>C	c.(2617-2619)ggT>ggC	p.G873G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	873	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTCTCTGCCAACCCAATTCAC	0.478																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2617-2619)ggT>ggC		ADAM metallopeptidase with thrombospondin type 1 motif, 1							121.0	115.0	117.0					21																	28210183		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210183A>G	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2619T>C	21.37:g.28210183A>G							p.G873G	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3073	-		Breast(209;0.000962)	873			TSP type-1 2.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.2619T>C	CCDS33524.1																																																																																				0.478	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			16	113	0	0	0	1	0	16	113				
MYH1	4619	broad.mit.edu	37	17	10404587	10404587	+	Missense_Mutation	SNP	G	G	A	rs563239651		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:10404587G>A	ENST00000226207.5	-	27	3672	c.3578C>T	c.(3577-3579)gCg>gTg	p.A1193V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1193					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGGGTGGCCGCCGTGGCTTC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17504	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3577-3579)gCg>gTg		myosin, heavy chain 1, skeletal muscle, adult							93.0	92.0	93.0					17																	10404587		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404587G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3578C>T	17.37:g.10404587G>A	ENSP00000226207:p.Ala1193Val					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1193V	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3672	-			1193					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3578C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512339	0.64522	.	.	ENSG00000109061	ENST00000226207	T	0.76186	-1.0	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.63604	0.2525	N	0.21583	0.68	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.57171	-0.7857	10	0.16420	T	0.52	.	19.7865	0.96442	0.0:0.0:1.0:0.0	.	1193	P12882	MYH1_HUMAN	V	1193	ENSP00000226207:A1193V	ENSP00000226207:A1193V	A	-	2	0	MYH1	10345312	1.000000	0.71417	0.952000	0.39060	0.989000	0.77384	6.607000	0.74163	2.751000	0.94390	0.650000	0.86243	GCG		0.577	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	151	0	0	0	1	0	26	151				
INTS6	26512	broad.mit.edu	37	13	51950210	51950210	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr13:51950210C>A	ENST00000311234.4	-	13	2175	c.1703G>T	c.(1702-1704)cGc>cTc	p.R568L	INTS6_ENST00000398119.2_Missense_Mutation_p.R555L|INTS6_ENST00000490542.1_Missense_Mutation_p.R252L|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R390L|INTS6_ENST00000425000.1_Missense_Mutation_p.R136L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	568					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGAAATCTGCGAGTGCTCTT	0.338																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1702-1704)cGc>cTc		integrator complex subunit 6							90.0	88.0	88.0					13																	51950210		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51950210C>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1703G>T	13.37:g.51950210C>A	ENSP00000310260:p.Arg568Leu					INTS6_ENST00000490542.1_Missense_Mutation_p.R252L|INTS6_ENST00000425000.1_Missense_Mutation_p.R136L|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R390L|INTS6_ENST00000398119.2_Missense_Mutation_p.R555L	p.R568L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	13	2175	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	568					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.1703G>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913504	0.17907	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.48	4.64	0.57946	.	0.208633	0.51477	D	0.000095	T	0.15912	0.0383	N	0.05078	-0.115	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05500	-1.0881	10	0.23891	T	0.37	0.0604	13.3556	0.60625	0.0:0.9241:0.0:0.0758	.	568	Q9UL03	INT6_HUMAN	L	568;555;390;136;252	ENSP00000310260:R568L;ENSP00000381187:R555L;ENSP00000419871:R390L;ENSP00000406915:R136L;ENSP00000419984:R252L	ENSP00000310260:R568L	R	-	2	0	INTS6	50848211	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.050000	0.57404	1.319000	0.45190	0.650000	0.86243	CGC		0.338	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		18	43	1	0	2.35188e-11	1	2.51346e-11	18	43				
CYB5R3	1727	broad.mit.edu	37	22	43024193	43024193	+	Missense_Mutation	SNP	C	C	T	rs370695594		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr22:43024193C>T	ENST00000352397.5	-	5	680	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	CYB5R3_ENST00000396303.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000361740.4_Missense_Mutation_p.R176Q|CYB5R3_ENST00000407623.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R120Q	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	143	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)	p.R120Q(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	ACTGGGGCCCCGGAACTCAAT	0.562																																						ENST00000361740.4																			1	Substitution - Missense(1)	p.R120Q(1)	large_intestine(1)	kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(526-528)cGg>cAg		cytochrome b5 reductase 3	NADH(DB00157)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	118.0	120.0	120.0		428,359,527,359,359	1.8	1.0	22		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CYB5R3	NM_000398.6,NM_001129819.2,NM_001171660.1,NM_001171661.1,NM_007326.4	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	143/302,120/279,176/335,120/279,120/279	43024193	1,13005	2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43024193C>T	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.428G>A	22.37:g.43024193C>T	ENSP00000338461:p.Arg143Gln					CYB5R3_ENST00000407623.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000407332.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000402438.1_Missense_Mutation_p.R120Q|CYB5R3_ENST00000396303.3_Missense_Mutation_p.R120Q|CYB5R3_ENST00000352397.5_Missense_Mutation_p.R143Q	p.R176Q	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN			5	526	-			143					B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.527G>A	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236541	0.39498	0.0	1.16E-4	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438;ENST00000438270	D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.92	1.76	0.24704	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.102570	0.64402	N	0.000005	D	0.91998	0.7465	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.87578	0.998;0.672	D	0.90638	0.4572	10	0.54805	T	0.06	-25.1066	9.0317	0.36262	0.0:0.8191:0.0:0.1809	.	176;143	B7Z7L3;P00387	.;NB5R3_HUMAN	Q	176;120;143;120;120;120;120	ENSP00000354468:R176Q;ENSP00000379597:R120Q;ENSP00000338461:R143Q;ENSP00000384834:R120Q;ENSP00000384457:R120Q;ENSP00000385679:R120Q;ENSP00000403439:R120Q	ENSP00000338461:R143Q	R	-	2	0	CYB5R3	41354137	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.256000	0.78350	0.574000	0.29417	0.555000	0.69702	CGG		0.562	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			13	210	0	0	0	1	0	13	210				
POM121L12	285877	broad.mit.edu	37	7	53103706	53103706	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:53103706T>G	ENST00000408890.4	+	1	358	c.342T>G	c.(340-342)tgT>tgG	p.C114W		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	114										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCTCCTGTGCCTGGGAGG	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(340-342)tgT>tgG		POM121 transmembrane nucleoporin-like 12							26.0	31.0	30.0					7																	53103706		1985	4132	6117	SO:0001583	missense	285877							g.chr7:53103706T>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.342T>G	7.37:g.53103706T>G	ENSP00000386133:p.Cys114Trp						p.C114W	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	358	+			114					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.342T>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	T	9.865	1.197289	0.22037	.	.	ENSG00000221900	ENST00000408890	T	0.22743	1.94	1.74	-3.05	0.05396	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	P	0.53689	0.732	T	0.21143	-1.0254	9	0.62326	D	0.03	.	6.8577	0.24050	0.0:0.2905:0.0:0.7095	.	114	Q8N7R1	P1L12_HUMAN	W	114	ENSP00000386133:C114W	ENSP00000386133:C114W	C	+	3	2	POM121L12	53071200	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.832000	0.01696	-1.021000	0.03350	-0.381000	0.06696	TGT		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		4	82	0	0	0	1	0	4	82				
MME	4311	broad.mit.edu	37	3	154802023	154802023	+	Nonsense_Mutation	SNP	C	C	T	rs150836510		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:154802023C>T	ENST00000460393.1	+	2	187	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_ENST00000462745.1_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*|MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	23					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R23*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GAAGAAACAGCGATGGACTCC	0.433																																						ENST00000460393.1																			1	Substitution - Nonsense(1)	p.R23*(1)	endometrium(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(67-69)Cga>Tga		membrane metallo-endopeptidase	Candoxatril(DB00616)	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	177.0	179.0		67,67,67,67	1.2	0.5	3	dbSNP_134	179	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained	MME	NM_000902.3,NM_007287.2,NM_007288.2,NM_007289.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	23/751,23/751,23/751,23/751	154802023	1,13005	2203	4300	6503	SO:0001587	stop_gained	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154802023C>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.67C>T	3.37:g.154802023C>T	ENSP00000418525:p.Arg23*					MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000462745.1_Nonsense_Mutation_p.R23*	p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		2	187	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	23					A8K6U6|D3DNJ9|Q3MIX4	Nonsense_Mutation	SNP	ENST00000460393.1	37	c.67C>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640324	0.87859	2.27E-4	0.0	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000462837	.	.	.	5.27	1.22	0.21188	.	0.145316	0.47093	D	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9968	13.6127	0.62088	0.5414:0.4586:0.0:0.0	.	.	.	.	X	23	.	ENSP00000353679:R23X	R	+	1	2	MME	156284717	0.978000	0.34361	0.455000	0.27031	0.894000	0.52154	0.334000	0.19787	0.007000	0.14760	0.591000	0.81541	CGA		0.433	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	202	0	0	0	1	0	20	202				
FLII	2314	broad.mit.edu	37	17	18160272	18160272	+	Missense_Mutation	SNP	C	C	A	rs145813372		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:18160272C>A	ENST00000327031.4	-	2	350	c.125G>T	c.(124-126)cGc>cTc	p.R42L	FLII_ENST00000578558.1_Missense_Mutation_p.R42L|FLII_ENST00000379450.4_Missense_Mutation_p.R11L|FLII_ENST00000579294.1_Missense_Mutation_p.R31L|FLII_ENST00000545457.2_Missense_Mutation_p.R42L|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	42	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GAGGCCAGTGCGGTTCAGCTT	0.652																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(124-126)cGc>cTc		flightless I homolog (Drosophila)							28.0	26.0	27.0					17																	18160272		2202	4300	6502	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18160272C>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.125G>T	17.37:g.18160272C>A	ENSP00000324573:p.Arg42Leu					FLII_ENST00000545457.2_Missense_Mutation_p.R42L|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000579294.1_Missense_Mutation_p.R31L|FLII_ENST00000379450.4_Missense_Mutation_p.R11L|FLII_ENST00000578558.1_Missense_Mutation_p.R42L	p.R42L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			2	350	-	all_neural(463;0.228)		42			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.125G>T	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607229	0.66558	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.37752	1.18;1.84;1.83	5.12	3.13	0.36017	.	0.051548	0.64402	D	0.000001	T	0.36441	0.0967	M	0.64170	1.965	0.58432	D	0.999994	B;B;P;B	0.43578	0.196;0.196;0.811;0.176	B;B;B;B	0.41723	0.113;0.113;0.365;0.142	T	0.19976	-1.0289	10	0.66056	D	0.02	-16.7052	10.4059	0.44256	0.0:0.7801:0.0:0.2199	.	11;11;42;42	E7EPM0;B4DIL0;F5H407;Q13045	.;.;.;FLII_HUMAN	L	42;42;11	ENSP00000324573:R42L;ENSP00000438536:R42L;ENSP00000368763:R11L	ENSP00000324573:R42L	R	-	2	0	FLII	18100997	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.660000	0.37397	0.557000	0.29117	0.511000	0.50034	CGC		0.652	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		6	15	1	0	0.00198382	1	0.00199809	6	15				
MTO1	25821	broad.mit.edu	37	6	74190513	74190513	+	Silent	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:74190513G>A	ENST00000370300.4	+	8	1410	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	MTO1_ENST00000370305.1_Silent_p.E366E|MTO1_ENST00000415954.2_Silent_p.E415E|MTO1_ENST00000498286.1_Silent_p.E415E	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	440					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CTGGTTATGAGGAAGCTGCAG	0.393																																						ENST00000498286.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						c.(1243-1245)gaG>gaA		mitochondrial tRNA translation optimization 1							105.0	92.0	97.0					6																	74190513		2203	4300	6503	SO:0001819	synonymous_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74190513G>A	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1320G>A	6.37:g.74190513G>A						MTO1_ENST00000370300.4_Silent_p.E440E|MTO1_ENST00000370305.1_Silent_p.E366E|MTO1_ENST00000415954.2_Silent_p.E415E	p.E415E			Q9Y2Z2	MTO1_HUMAN			7	1522	+			440					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	c.1245G>A	CCDS4979.1																																																																																				0.393	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		18	42	0	0	0	1	0	18	42				
AKAP9	10142	broad.mit.edu	37	7	91652205	91652205	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:91652205G>C	ENST00000359028.2	+	15	4291	c.4066G>C	c.(4066-4068)Gaa>Caa	p.E1356Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1344Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1356Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1356					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAGAATTAGAAAGCCTCAT	0.343			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4066-4068)Gaa>Caa		A kinase (PRKA) anchor protein 9							67.0	64.0	65.0					7																	91652205		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91652205G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4066G>C	7.37:g.91652205G>C	ENSP00000351922:p.Glu1356Gln					AKAP9_ENST00000356239.3_Missense_Mutation_p.E1344Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1356Q	p.E1356Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		15	4291	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1356					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.4066G>C		.	.	.	.	.	.	.	.	.	.	G	10.97	1.502950	0.26949	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05025	3.53;3.53;3.51	4.77	3.87	0.44632	.	0.185508	0.26282	N	0.025269	T	0.05135	0.0137	N	0.25426	0.745	0.34265	D	0.680362	B;P;B;B	0.37731	0.259;0.607;0.22;0.129	B;B;B;B	0.34652	0.063;0.187;0.062;0.117	T	0.43228	-0.9404	10	0.27082	T	0.32	.	13.0279	0.58825	0.0:0.1688:0.8312:0.0	.	1356;1344;1344;1356	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Q	1344;1356;1356;1356;1356	ENSP00000348573:E1344Q;ENSP00000351922:E1356Q;ENSP00000350813:E1356Q	ENSP00000348573:E1344Q	E	+	1	0	AKAP9	91490141	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.653000	0.54446	1.303000	0.44873	0.591000	0.81541	GAA		0.343	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		17	31	0	0	0	1	0	17	31				
ZNF785	146540	broad.mit.edu	37	16	30593997	30593997	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:30593997T>A	ENST00000395216.2	-	3	1261	c.1102A>T	c.(1102-1104)Agg>Tgg	p.R368W	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R353W|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	368					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(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACGCGCGCCTCTCGCTGCAG	0.637																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1102-1104)Agg>Tgg		zinc finger protein 785							54.0	58.0	57.0					16																	30593997		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30593997T>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1102A>T	16.37:g.30593997T>A	ENSP00000378642:p.Arg368Trp					AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R353W	p.R368W	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1261	-			368					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.1102A>T	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	t	13.44	2.239044	0.39598	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.06218	3.33;3.38	4.07	2.92	0.33932	.	.	.	.	.	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	D;D;D	0.71674	0.997;0.997;0.998	P;P;D	0.65323	0.86;0.86;0.934	T	0.19484	-1.0304	9	0.87932	D	0	.	7.2747	0.26277	0.0:0.0:0.2263:0.7737	.	333;368;353	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	W	353;333;368	ENSP00000420340:R353W;ENSP00000378642:R368W	ENSP00000378642:R368W	R	-	1	2	ZNF785	30501498	0.044000	0.20184	0.009000	0.14445	0.042000	0.13812	-0.083000	0.11286	0.601000	0.29879	0.524000	0.50904	AGG		0.637	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		37	99	0	0	0	1	0	37	99				
WARS2	10352	broad.mit.edu	37	1	119575875	119575875	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:119575875C>A	ENST00000235521.4	-	6	768	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	WARS2_ENST00000537870.1_Missense_Mutation_p.V154L|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	248					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AATTTCTGCACTATCTCCTCT	0.552																																						ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(742-744)Gtg>Ttg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						136.0	126.0	129.0					1																	119575875		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575875C>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.742G>T	1.37:g.119575875C>A	ENSP00000235521:p.Val248Leu					WARS2_ENST00000537870.1_Missense_Mutation_p.V154L|WARS2_ENST00000369426.5_3'UTR	p.V248L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	768	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	248					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.742G>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572379	0.45798	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.52057	0.68;0.68	5.87	3.99	0.46301	.	0.276423	0.40908	D	0.000981	T	0.09818	0.0241	N	0.03115	-0.41	0.34701	D	0.726782	B;B	0.14012	0.009;0.009	B;B	0.18263	0.01;0.021	T	0.09509	-1.0671	10	0.25106	T	0.35	-10.0178	8.9531	0.35801	0.0:0.743:0.1221:0.135	.	191;248	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	L	248;154	ENSP00000235521:V248L;ENSP00000438807:V154L	ENSP00000235521:V248L	V	-	1	0	WARS2	119377398	0.420000	0.25457	0.886000	0.34754	0.988000	0.76386	2.217000	0.42880	1.496000	0.48567	0.655000	0.94253	GTG		0.552	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		38	103	1	0	6.03168e-27	1	7.0961e-27	38	103				
TRIM58	25893	broad.mit.edu	37	1	248039556	248039556	+	Missense_Mutation	SNP	G	G	T	rs571276238		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:248039556G>T	ENST00000366481.3	+	6	1274	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	409	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAGTCCTCGCTGCATTGGG	0.478																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(1225-1227)cGc>cTc		tripartite motif containing 58							157.0	162.0	160.0					1																	248039556		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039556G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1226G>T	1.37:g.248039556G>T	ENSP00000355437:p.Arg409Leu					OR2W3_ENST00000537741.1_Intron	p.R409L	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1274	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	409			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1226G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439216	0.12104	.	.	ENSG00000162722	ENST00000366481	T	0.70631	-0.5	4.05	-0.204	0.13200	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.785486	0.11134	N	0.595961	T	0.68174	0.2972	L	0.60957	1.885	0.09310	N	1	P	0.38978	0.652	P	0.47376	0.545	T	0.56926	-0.7898	10	0.30078	T	0.28	.	4.6685	0.12676	0.3234:0.161:0.5156:0.0	.	409	Q8NG06	TRI58_HUMAN	L	409	ENSP00000355437:R409L	ENSP00000355437:R409L	R	+	2	0	TRIM58	246106179	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.163000	0.16520	-0.019000	0.14055	0.650000	0.86243	CGC		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		56	131	1	0	5.39261e-20	1	6.13793e-20	56	131				
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		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.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(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	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(262-264)Gag>Tag		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001587	stop_gained	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.chr9:21971096C>A	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.262G>T	9.37:g.21971096C>A	ENSP00000307101:p.Glu88*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*	p.E88*	NM_000077.4	NP_000068.1	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	532	-		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)	88		E -> D (in a biliary tract tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.262G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		17	23	1	0	1.40151e-16	1	1.55723e-16	17	23				
TSPAN31	6302	broad.mit.edu	37	12	58139630	58139630	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr12:58139630C>T	ENST00000257910.3	+	2	440	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Missense_Mutation_p.L56F	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	56					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGGAGTCTTCCTTCTCCTTAT	0.577																																						ENST00000547992.1																			0				endometrium(1)|kidney(1)|lung(5)	7						c.(166-168)Ctt>Ttt		tetraspanin 31							121.0	107.0	112.0					12																	58139630		2203	4300	6503	SO:0001583	missense	6302				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58139630C>T		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.166C>T	12.37:g.58139630C>T	ENSP00000257910:p.Leu56Phe					TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.L56F	p.L56F			Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	298	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		56					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.166C>T	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212498	0.95069	.	.	ENSG00000135452	ENST00000257910;ENST00000547992	T	0.81330	-1.48	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	D	0.90342	0.6978	M	0.85630	2.765	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	D	0.91255	0.5032	10	0.54805	T	0.06	-2.5805	16.6554	0.85227	0.0:1.0:0.0:0.0	.	56;56	F8VS78;Q12999	.;TSN31_HUMAN	F	56	ENSP00000257910:L56F	ENSP00000257910:L56F	L	+	1	0	TSPAN31	56425897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.568000	0.67385	2.539000	0.85634	0.460000	0.39030	CTT		0.577	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			15	91	0	0	0	1	0	15	91				
MTUS2	23281	broad.mit.edu	37	13	29600974	29600974	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr13:29600974G>T	ENST00000431530.3	+	1	2227	c.2169G>T	c.(2167-2169)ttG>ttT	p.L723F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	713	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTTCCGGATTGATGGTGTCTG	0.468																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2167-2169)ttG>ttT		microtubule associated tumor suppressor candidate 2							68.0	69.0	69.0					13																	29600974		1886	4102	5988	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600974G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2169G>T	13.37:g.29600974G>T	ENSP00000392057:p.Leu723Phe						p.L723F	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	2227	+			713			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2169G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	17.35	3.368250	0.61513	.	.	ENSG00000132938	ENST00000431530	T	0.31510	1.49	6.17	2.52	0.30459	.	0.000000	0.46145	D	0.000313	T	0.47002	0.1422	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31724	-0.9933	9	.	.	.	.	6.5624	0.22493	0.3173:0.1166:0.5661:0.0	.	713	Q5JR59	MTUS2_HUMAN	F	723	ENSP00000392057:L723F	.	L	+	3	2	MTUS2	28498974	1.000000	0.71417	0.831000	0.32960	0.998000	0.95712	0.622000	0.24433	0.482000	0.27582	0.655000	0.94253	TTG		0.468	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		25	57	1	0	2.41591e-17	1	2.70582e-17	25	57				
AURKC	6795	broad.mit.edu	37	19	57743153	57743153	+	Silent	SNP	C	C	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:57743153C>A	ENST00000302804.7	+	2	288	c.102C>A	c.(100-102)gcC>gcA	p.A34A	AURKC_ENST00000598785.1_De_novo_Start_InFrame|AURKC_ENST00000448930.1_De_novo_Start_InFrame|AURKC_ENST00000415300.2_Silent_p.A15A|AURKC_ENST00000599062.1_Silent_p.A31A	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	34					attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		gcagcccagcCATGTGAGTCC	0.587																																						ENST00000598785.1																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25								aurora kinase C							103.0	101.0	101.0					19																	57743153		2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743153C>A		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.102C>A	19.37:g.57743153C>A						AURKC_ENST00000415300.2_Silent_p.A15A|AURKC_ENST00000448930.1_De_novo_Start_InFrame|AURKC_ENST00000599062.1_Silent_p.A31A|AURKC_ENST00000302804.7_Silent_p.A34A				Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	0	167	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)						O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Translation_Start_Site	SNP	ENST00000302804.7	37		CCDS33128.1																																																																																				0.587	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		8	110	1	0	2.17888e-05	1	2.24296e-05	8	110				
TECTA	7007	broad.mit.edu	37	11	121000526	121000526	+	Silent	SNP	C	C	T	rs148065839		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr11:121000526C>T	ENST00000392793.1	+	10	2818	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	TECTA_ENST00000264037.2_Silent_p.C849C			O75443	TECTA_HUMAN	tectorin alpha	849	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGCTTGTGCGGCTTCTACA	0.547																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2545-2547)tgC>tgT		tectorin alpha		C		0,4406		0,0,2203	144.0	136.0	139.0		2547	-3.8	1.0	11	dbSNP_134	139	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		849/2156	121000526	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000526C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2547C>T	11.37:g.121000526C>T						TECTA_ENST00000264037.2_Silent_p.C849C	p.C849C			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	2818	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	849			VWFD 2.			Silent	SNP	ENST00000392793.1	37	c.2547C>T	CCDS8434.1																																																																																				0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		4	208	0	0	0	1	0	4	208				
P2RY11	5032	broad.mit.edu	37	19	10224527	10224527	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:10224527C>T	ENST00000321826.4	+	2	422	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	PPAN_ENST00000556468.1_Silent_p.L500L|PPAN-P2RY11_ENST00000428358.1_Silent_p.P520P|PPAN-P2RY11_ENST00000393796.4_Silent_p.L500L	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	80					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GCTCTGCGCCCTGACGCTGCC	0.687											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1558-1560)ccC>ccT									33.0	32.0	32.0					19																	10224527		2203	4298	6501	SO:0001819	synonymous_variant	692312				RNA splicing	nucleolus	protein binding	g.chr19:10224527C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.238C>T	19.37:g.10224527C>T			OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	PPAN_ENST00000556468.1_Silent_p.L500L|P2RY11_ENST00000321826.4_Silent_p.L80L|PPAN-P2RY11_ENST00000393796.4_Silent_p.L500L	p.P520P	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1732	+			0					B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.1560C>T	CCDS12226.1																																																																																				0.687	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		6	31	0	0	0	1	0	6	31				
QARS	5859	broad.mit.edu	37	3	49137075	49137075	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:49137075G>C	ENST00000306125.6	-	16	1731	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.S454C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	465					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GAAGTAGGAAGAGCGTCTGGG	0.572																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1393-1395)tCt>tGt		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						63.0	65.0	65.0					3																	49137075		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137075G>C	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1394C>G	3.37:g.49137075G>C	ENSP00000307567:p.Ser465Cys					QARS_ENST00000414533.1_Missense_Mutation_p.S454C	p.S465C			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	1731	-			465					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1394C>G	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448919	0.84101	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.23754	1.89;1.89	5.86	5.86	0.93980	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66052	-0.6019	10	0.66056	D	0.02	-20.7152	20.1865	0.98220	0.0:0.0:1.0:0.0	.	454;465	B4DWJ2;P47897	.;SYQ_HUMAN	C	465;454	ENSP00000307567:S465C;ENSP00000390015:S454C	ENSP00000307567:S465C	S	-	2	0	QARS	49112079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.183000	0.94887	2.775000	0.95449	0.655000	0.94253	TCT		0.572	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		7	59	0	0	0	1	0	7	59				
KLHL22	84861	broad.mit.edu	37	22	20819166	20819166	+	Missense_Mutation	SNP	C	C	A	rs552098595		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr22:20819166C>A	ENST00000328879.4	-	4	1247	c.1091G>T	c.(1090-1092)cGa>cTa	p.R364L	KLHL22_ENST00000440659.2_Missense_Mutation_p.R221L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	364					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGACTCTGCTCGAAATCCTTG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20749	0.0		0.0	False		,,,				2504	0.0					ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1090-1092)cGa>cTa		kelch-like family member 22							90.0	81.0	84.0					22																	20819166		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819166C>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1091G>T	22.37:g.20819166C>A	ENSP00000331682:p.Arg364Leu					KLHL22_ENST00000440659.2_Missense_Mutation_p.R221L	p.R364L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	1247	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	364					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1091G>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213341	0.58452	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.64803	-0.12;-0.12	5.42	4.4	0.53042	Kelch-type beta propeller (1);	0.189133	0.45867	D	0.000340	T	0.60547	0.2277	N	0.20304	0.555	0.52501	D	0.999957	D;D	0.57257	0.979;0.959	P;P	0.59595	0.86;0.767	T	0.63019	-0.6730	10	0.56958	D	0.05	.	11.1705	0.48569	0.0:0.9111:0.0:0.0889	.	221;364	B7Z2G1;Q53GT1	.;KLH22_HUMAN	L	364;221	ENSP00000331682:R364L;ENSP00000405521:R221L	ENSP00000331682:R364L	R	-	2	0	KLHL22	19149166	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.190000	0.58365	2.531000	0.85337	0.655000	0.94253	CGA		0.562	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		35	115	1	0	6.29468e-14	1	6.83144e-14	35	115				
LRP6	4040	broad.mit.edu	37	12	12274116	12274116	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr12:12274116T>C	ENST00000261349.4	-	23	4862	c.4786A>G	c.(4786-4788)Agc>Ggc	p.S1596G	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1551G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1596					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGAGAATAGCTCCTCTCTGTG	0.547																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4786-4788)Agc>Ggc		low density lipoprotein receptor-related protein 6							137.0	112.0	121.0					12																	12274116		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274116T>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4786A>G	12.37:g.12274116T>C	ENSP00000261349:p.Ser1596Gly					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1551G	p.S1596G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4862	-		Prostate(47;0.0865)	1596					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4786A>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418056	0.83449	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96619	-3.56;-4.07	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.50333	1.59	0.80722	D	1	B;B	0.32507	0.373;0.256	B;B	0.35550	0.205;0.101	D	0.94260	0.7501	10	0.66056	D	0.02	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	1551;1596	F5H7J9;O75581	.;LRP6_HUMAN	G	1596;1551	ENSP00000261349:S1596G;ENSP00000442472:S1551G	ENSP00000261349:S1596G	S	-	1	0	LRP6	12165383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.874000	0.69652	2.330000	0.79161	0.528000	0.53228	AGC		0.547	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			6	82	0	0	0	1	0	6	82				
EPB41L5	57669	broad.mit.edu	37	2	120847933	120847933	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:120847933A>C	ENST00000263713.5	+	12	1098	c.884A>C	c.(883-885)cAg>cCg	p.Q295P	EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q295P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q295P|EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q295P|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q295P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	295	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GGCAAAGAACAGGAACATACA	0.373																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(883-885)cAg>cCg		erythrocyte membrane protein band 4.1 like 5							105.0	103.0	104.0					2																	120847933		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120847933A>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.884A>C	2.37:g.120847933A>C	ENSP00000263713:p.Gln295Pro					EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q295P|EPB41L5_ENST00000443124.1_Missense_Mutation_p.Q295P|EPB41L5_ENST00000331393.4_Missense_Mutation_p.Q295P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q295P	p.Q295P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			12	1098	+			295			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.884A>C	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109417	0.77096	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.41	5.41	0.78517	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	D	0.93910	0.8051	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.91635	0.964;0.999;0.986;0.999	D	0.94590	0.7787	10	0.62326	D	0.03	.	15.7378	0.77859	1.0:0.0:0.0:0.0	.	295;295;295;295	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	P	295	ENSP00000263713:Q295P;ENSP00000393856:Q295P;ENSP00000329687:Q295P;ENSP00000393722:Q295P;ENSP00000390439:Q295P	ENSP00000263713:Q295P	Q	+	2	0	EPB41L5	120564403	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.127000	0.94417	2.184000	0.69523	0.477000	0.44152	CAG		0.373	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		7	94	0	0	0	1	0	7	94				
KRTAP13-4	284827	broad.mit.edu	37	21	31802793	31802793	+	Missense_Mutation	SNP	G	G	A	rs139497735	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr21:31802793G>A	ENST00000334068.2	+	1	222	c.200G>A	c.(199-201)cGc>cAc	p.R67H		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	67	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TCCTGCTACCGCCCCAGGACC	0.617																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(199-201)cGc>cAc		keratin associated protein 13-4		G	HIS/ARG	3,4403		0,3,2200	62.0	60.0	61.0		200	-7.5	0.0	21	dbSNP_134	61	0,8600		0,0,4300	no	missense	KRTAP13-4	NM_181600.1	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	67/161	31802793	3,13003	2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802793G>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.200G>A	21.37:g.31802793G>A	ENSP00000334834:p.Arg67His						p.R67H	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	222	+			67			4 X 10 AA approximate repeats.		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.200G>A	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	6.125	0.391317	0.11581	6.81E-4	0.0	ENSG00000186971	ENST00000334068	T	0.03496	3.91	4.29	-7.46	0.01369	.	0.947270	0.08664	N	0.911984	T	0.02848	0.0085	L	0.55481	1.735	0.09310	N	1	B	0.24043	0.096	B	0.19946	0.027	T	0.41556	-0.9502	10	0.25106	T	0.35	.	1.2975	0.02073	0.3058:0.1025:0.151:0.4407	.	67	Q3LI77	KR134_HUMAN	H	67	ENSP00000334834:R67H	ENSP00000334834:R67H	R	+	2	0	KRTAP13-4	30724664	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.277000	0.02812	-1.845000	0.01176	-0.143000	0.13931	CGC		0.617	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			15	86	0	0	0	1	0	15	86				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	10	0	0	0	1	0	4	10				
KIAA0232	9778	broad.mit.edu	37	4	6863455	6863455	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr4:6863455G>C	ENST00000307659.5	+	7	1801	c.1346G>C	c.(1345-1347)tGt>tCt	p.C449S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.C449S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	449							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATGGTCTTTGTATCAGCAAC	0.383																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(1345-1347)tGt>tCt		KIAA0232							79.0	80.0	79.0					4																	6863455		1910	4134	6044	SO:0001583	missense	9778						ATP binding	g.chr4:6863455G>C	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1346G>C	4.37:g.6863455G>C	ENSP00000303928:p.Cys449Ser					KIAA0232_ENST00000425103.1_Missense_Mutation_p.C449S	p.C449S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	1801	+			449					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.1346G>C	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907055	0.72868	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.28	4.3	0.51218	.	0.101421	0.64402	D	0.000001	T	0.53578	0.1805	M	0.62723	1.935	0.44745	D	0.997749	P	0.35272	0.493	B	0.33620	0.167	T	0.57341	-0.7828	9	0.59425	D	0.04	-30.9927	11.6994	0.51562	0.1041:0.0:0.8959:0.0	.	449	Q92628	K0232_HUMAN	S	449	.	ENSP00000303928:C449S	C	+	2	0	KIAA0232	6914356	1.000000	0.71417	0.515000	0.27774	0.996000	0.88848	4.253000	0.58791	1.206000	0.43276	0.655000	0.94253	TGT		0.383	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		22	46	0	0	0	1	0	22	46				
TGFBRAP1	9392	broad.mit.edu	37	2	105883845	105883845	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:105883845T>A	ENST00000393359.2	-	12	3004	c.2578A>T	c.(2578-2580)Act>Tct	p.T860S	AC012360.2_ENST00000595531.1_5'Flank|TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.T860S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	860					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCTTTTCAAGTCCGAGTGCCA	0.557																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(2578-2580)Act>Tct		transforming growth factor, beta receptor associated protein 1							95.0	82.0	86.0					2																	105883845		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105883845T>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2578A>T	2.37:g.105883845T>A	ENSP00000377027:p.Thr860Ser					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.T860S	p.T860S			Q8WUH2	TGFA1_HUMAN			12	3004	-			860					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.2578A>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788006	0.70337	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.42900	0.96;0.96	5.5	5.5	0.81552	.	0.134169	0.49305	D	0.000142	T	0.60766	0.2294	L	0.60455	1.87	0.45662	D	0.998582	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.61987	-0.6949	10	0.52906	T	0.07	.	15.6198	0.76796	0.0:0.0:0.0:1.0	.	315;860	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	S	860;860;315	ENSP00000377027:T860S;ENSP00000258449:T860S	ENSP00000258449:T860S	T	-	1	0	TGFBRAP1	105250277	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.668000	0.74457	2.094000	0.63399	0.455000	0.32223	ACT		0.557	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		17	87	0	0	0	1	0	17	87				
NRXN3	9369	broad.mit.edu	37	14	79746660	79746660	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr14:79746660G>T	ENST00000557594.1	+	1	979	c.26G>T	c.(25-27)cGg>cTg	p.R9L	NRXN3_ENST00000428277.2_Missense_Mutation_p.R9L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.R9L|NRXN3_ENST00000554719.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	9					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACGCGAGACGGAGCCCTCCT	0.557																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(25-27)cGg>cTg		neurexin 3							145.0	142.0	143.0					14																	79746660		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746660G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.26G>T	14.37:g.79746660G>T	ENSP00000451672:p.Arg9Leu					NRXN3_ENST00000428277.2_Missense_Mutation_p.R9L|NRXN3_ENST00000557594.1_Missense_Mutation_p.R9L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron	p.R9L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	905	+		Renal(4;0.00876)	9					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.26G>T		.	.	.	.	.	.	.	.	.	.	G	14.06	2.421560	0.43020	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35048	1.47;1.55;1.33	5.58	5.58	0.84498	.	.	.	.	.	T	0.16085	0.0387	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.28801	0.223;0.001;0.0	B;B;B	0.22601	0.04;0.001;0.001	T	0.18272	-1.0342	8	.	.	.	.	12.4653	0.55755	0.0:0.0:0.7896:0.2104	.	9;9;9	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	9	ENSP00000451672:R9L;ENSP00000281127:R9L;ENSP00000394426:R9L	.	R	+	2	0	NRXN3	78816413	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.290000	0.43531	2.647000	0.89833	0.558000	0.71614	CGG		0.557	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		61	191	1	0	8.81991e-31	1	1.04643e-30	61	191				
PCDHB8	56128	broad.mit.edu	37	5	140558302	140558302	+	Silent	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:140558302C>G	ENST00000239444.2	+	1	932	c.687C>G	c.(685-687)gtC>gtG	p.V229V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	229	Cadherin 2. {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)	p.V229V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTCAGGTCTACATTGAAG	0.512																																						ENST00000239444.2																			1	Substitution - coding silent(1)	p.V229V(1)	lung(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(685-687)gtC>gtG									154.0	193.0	179.0					5																	140558302		2203	4291	6494	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558302C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.687C>G	5.37:g.140558302C>G							p.V229V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	932	+			229			Cadherin 2.		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.687C>G	CCDS4250.1																																																																																				0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		92	322	0	0	0	1	0	92	322				
RASA4	10156	broad.mit.edu	37	7	102246402	102246402	+	Missense_Mutation	SNP	C	C	T	rs372956201		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:102246402C>T	ENST00000262940.7	-	5	398	c.331G>A	c.(331-333)Gac>Aac	p.D111N	RASA4_ENST00000461209.1_Missense_Mutation_p.D39N|RASA4_ENST00000449970.2_Missense_Mutation_p.D111N|RASA4_ENST00000462172.1_Missense_Mutation_p.D39N|AC105052.1_ENST00000411396.1_RNA|RP11-514P8.6_ENST00000519541.1_3'UTR	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	111					cellular response to calcium ion (GO:0071277)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			lung(1)|prostate(1)|urinary_tract(1)	3						TCATCGGGGTCGACCTCCGTC	0.706																																						ENST00000262940.7																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(331-333)Gac>Aac		RAS p21 protein activator 4		C	ASN/ASP,ASN/ASP	1,4389		0,1,2194	33.0	20.0	25.0		331,331	1.8	1.0	7		25	1,8525		0,1,4262	no	missense,missense	RASA4	NM_001079877.2,NM_006989.5	23,23	0,2,6456	TT,TC,CC		0.0117,0.0228,0.0155	probably-damaging,probably-damaging	111/758,111/804	102246402	2,12914	2195	4263	6458	SO:0001583	missense	10156				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity	g.chr7:102246402C>T	AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808			23181	protein-coding gene	gene with protein product		607943				11448776	Standard	NM_001079877		Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.331G>A	7.37:g.102246402C>T	ENSP00000262940:p.Asp111Asn					RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000461209.1_Missense_Mutation_p.D39N|RASA4_ENST00000449970.2_Missense_Mutation_p.D111N|RASA4_ENST00000462172.1_Missense_Mutation_p.D39N	p.D111N	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN			5	398	-			111					O60286|Q14CQ4|Q86UW3|Q96QU0	Missense_Mutation	SNP	ENST00000262940.7	37	c.331G>A	CCDS5725.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.202948	0.79127	2.28E-4	1.17E-4	ENSG00000105808	ENST00000262940;ENST00000461209;ENST00000449970;ENST00000541884;ENST00000462172;ENST00000522801;ENST00000520042	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	2.72	1.82	0.25136	C2 calcium/lipid-binding domain, CaLB (2);	0.000000	0.64402	D	0.000003	T	0.78084	0.4228	M	0.65975	2.015	0.39417	D	0.966844	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.959	T	0.77284	-0.2645	10	0.56958	D	0.05	.	7.7337	0.28802	0.0:0.8633:0.0:0.1367	.	111;111	O43374-2;O43374	.;RASL2_HUMAN	N	111;39;111;39;39;92;39	ENSP00000262940:D111N;ENSP00000420352:D39N;ENSP00000412876:D111N;ENSP00000438250:D39N;ENSP00000417395:D39N;ENSP00000430418:D92N;ENSP00000428732:D39N	ENSP00000262940:D111N	D	-	1	0	RASA4	102033470	0.955000	0.32602	0.990000	0.47175	0.997000	0.91878	2.111000	0.41883	0.719000	0.32188	0.525000	0.51046	GAC		0.706	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317900.3	NM_006989		3	30	0	0	0	1	0	3	30				
SLCO5A1	81796	broad.mit.edu	37	8	70744247	70744247	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr8:70744247G>A	ENST00000260126.4	-	2	1368	c.662C>T	c.(661-663)cCc>cTc	p.P221L	RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221L|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCTGGTAGGGGGGCGAGAT	0.677																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(661-663)cCc>cTc		solute carrier organic anion transporter family, member 5A1							22.0	27.0	25.0					8																	70744247		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744247G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.662C>T	8.37:g.70744247G>A	ENSP00000260126:p.Pro221Leu					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221L|SLCO5A1_ENST00000528658.1_5'UTR	p.P221L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1368	-	Breast(64;0.0654)		221					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.662C>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439770	0.83885	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58797	0.31;0.31;0.31	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	L	0.52573	1.65	0.80722	D	1	D;P;D;D	0.76494	0.998;0.911;0.999;0.999	D;P;D;D	0.75484	0.986;0.64;0.98;0.982	T	0.67401	-0.5680	10	0.32370	T	0.25	.	19.377	0.94514	0.0:0.0:1.0:0.0	.	221;221;221;221	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	L	221	ENSP00000260126:P221L;ENSP00000434422:P221L;ENSP00000431611:P221L	ENSP00000260126:P221L	P	-	2	0	SLCO5A1	70906801	1.000000	0.71417	0.742000	0.31022	0.984000	0.73092	9.864000	0.99589	2.586000	0.87340	0.561000	0.74099	CCC		0.677	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		19	32	0	0	0	1	0	19	32				
BCL2A1	597	broad.mit.edu	37	15	80253470	80253470	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr15:80253470G>A	ENST00000267953.3	-	2	793	c.467C>T	c.(466-468)aCt>aTt	p.T156I	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	156					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTCTAGAAAAGTCATCCAGCC	0.353																																						ENST00000267953.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(466-468)aCt>aTt		BCL2-related protein A1							91.0	88.0	89.0					15																	80253470		2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80253470G>A		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.467C>T	15.37:g.80253470G>A	ENSP00000267953:p.Thr156Ile					BCL2A1_ENST00000335661.6_3'UTR	p.T156I	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN			2	793	-			156					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.467C>T	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	G	8.884	0.952239	0.18431	.	.	ENSG00000140379	ENST00000267953	T	0.17691	2.26	3.89	-0.55	0.11825	.	.	.	.	.	T	0.09642	0.0237	L	0.29908	0.895	0.38571	D	0.949948	B	0.06786	0.001	B	0.04013	0.001	T	0.18366	-1.0339	9	0.46703	T	0.11	-23.6952	2.6051	0.04876	0.3811:0.0:0.4041:0.2148	.	156	Q16548	B2LA1_HUMAN	I	156	ENSP00000267953:T156I	ENSP00000267953:T156I	T	-	2	0	BCL2A1	78040525	0.710000	0.27896	0.991000	0.47740	0.653000	0.38743	0.556000	0.23438	0.252000	0.21531	0.555000	0.69702	ACT		0.353	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		14	28	0	0	0	1	0	14	28				
MAP1B	4131	broad.mit.edu	37	5	71491772	71491772	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:71491772G>A	ENST00000296755.7	+	5	2888	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	864					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E864K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATCGAAGACGAAGAGAAACT	0.493																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - Missense(1)	p.E864K(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2590-2592)Gaa>Aaa		microtubule-associated protein 1B							126.0	124.0	125.0					5																	71491772		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491772G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2590G>A	5.37:g.71491772G>A	ENSP00000296755:p.Glu864Lys						p.E864K	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2888	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	864					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2590G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.880021	0.51801	.	.	ENSG00000131711	ENST00000296755	T	0.03413	3.94	5.34	5.34	0.76211	.	0.192509	0.36167	N	0.002748	T	0.02970	0.0088	N	0.22421	0.69	0.50467	D	0.999875	P;B	0.36483	0.555;0.256	B;B	0.21546	0.035;0.035	T	0.61028	-0.7145	10	0.17369	T	0.5	-10.0824	19.0329	0.92965	0.0:0.0:1.0:0.0	.	738;864	A2BDK6;P46821	.;MAP1B_HUMAN	K	864	ENSP00000296755:E864K	ENSP00000296755:E864K	E	+	1	0	MAP1B	71527528	1.000000	0.71417	0.618000	0.29105	0.013000	0.08279	6.365000	0.73090	2.490000	0.84030	0.591000	0.81541	GAA		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		133	132	0	0	0	1	0	133	132				
WASH3P	374666	broad.mit.edu	37	15	102516483	102516483	+	RNA	SNP	A	A	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr15:102516483A>T	ENST00000557932.1	+	0	1431				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCTCCATGACACCTTCCCCCC	0.632																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516483A>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516483A>T														0	1431	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.632	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		12	119	0	0	0	1	0	12	119				
TMED6	146456	broad.mit.edu	37	16	69385576	69385576	+	Silent	SNP	T	T	A	rs143433971		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr16:69385576T>A	ENST00000288025.3	-	1	136	c.81A>T	c.(79-81)ctA>ctT	p.L27L	RP11-343C2.7_ENST00000564737.1_Nonsense_Mutation_p.K20*|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	27					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CAGAGCCACTTAGAGGTTCTG	0.552																																						ENST00000564737.1																			0											c.(58-60)Aag>Tag									86.0	83.0	84.0					16																	69385576		2198	4300	6498	SO:0001819	synonymous_variant	146456							g.chr16:69385576T>A	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.81A>T	16.37:g.69385576T>A						TMED6_ENST00000288025.3_Silent_p.L27L|RP11-343C2.9_ENST00000563634.1_Intron	p.K20*							1	57	-								Q6UXN5	Nonsense_Mutation	SNP	ENST00000288025.3	37	c.58A>T	CCDS10878.1																																																																																				0.552	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		48	153	0	0	0	1	0	48	153				
HIST3H3	8290	broad.mit.edu	37	1	228612821	228612821	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr1:228612821T>A	ENST00000366696.1	-	1	205	c.206A>T	c.(205-207)cAg>cTg	p.Q69L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	69					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CATCAGCCGCTGGAAGGGCAA	0.642																																						ENST00000366696.1																			0				large_intestine(1)|lung(2)|prostate(2)|skin(1)	6						c.(205-207)cAg>cTg		histone cluster 3, H3							85.0	86.0	86.0					1																	228612821		2203	4300	6503	SO:0001583	missense	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612821T>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.206A>T	1.37:g.228612821T>A	ENSP00000355657:p.Gln69Leu						p.Q69L	NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN			1	205	-		Prostate(94;0.0724)	69					B2R5K3|Q6FGU4	Missense_Mutation	SNP	ENST00000366696.1	37	c.206A>T	CCDS1572.1	.	.	.	.	.	.	.	.	.	.	t	13.10	2.135424	0.37728	.	.	ENSG00000168148	ENST00000366696	T	0.68903	-0.36	3.79	3.79	0.43588	Histone-fold (2);Histone core (1);	0.000000	0.37483	N	0.002061	D	0.87111	0.6096	H	0.98155	4.16	0.46478	D	0.999061	D	0.76494	0.999	D	0.83275	0.996	D	0.90359	0.4372	10	0.87932	D	0	.	11.1716	0.48575	0.0:0.0:0.0:1.0	.	69	Q16695	H31T_HUMAN	L	69	ENSP00000355657:Q69L	ENSP00000355657:Q69L	Q	-	2	0	HIST3H3	226679444	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	7.325000	0.79124	1.927000	0.55829	0.524000	0.50904	CAG		0.642	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		66	161	0	0	0	1	0	66	161				
RC3H2	54542	broad.mit.edu	37	9	125618118	125618118	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:125618118G>A	ENST00000373670.1	-	13	3094	c.2494C>T	c.(2494-2496)Cat>Tat	p.H832Y	RC3H2_ENST00000357244.2_Missense_Mutation_p.H832Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.H832Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	832					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGGAAAGATGATCTTCTTCA	0.358																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2494-2496)Cat>Tat		ring finger and CCCH-type domains 2							102.0	96.0	98.0					9																	125618118		1844	4090	5934	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125618118G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2494C>T	9.37:g.125618118G>A	ENSP00000362774:p.His832Tyr					RC3H2_ENST00000357244.2_Missense_Mutation_p.H832Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.H832Y	p.H832Y			Q9HBD1	RC3H2_HUMAN			13	3094	-			832					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2494C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480711	0.26598	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.41065	1.01;1.01;1.02	5.53	5.53	0.82687	.	0.251631	0.47093	D	0.000259	T	0.25901	0.0631	N	0.08118	0	0.80722	D	1	B;B	0.16603	0.01;0.018	B;B	0.14023	0.008;0.01	T	0.06356	-1.0831	10	0.26408	T	0.33	-17.0161	16.6089	0.84838	0.0:0.0:1.0:0.0	.	832;832	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	Y	832;832;703;832	ENSP00000362774:H832Y;ENSP00000349783:H832Y;ENSP00000411767:H832Y	ENSP00000349783:H832Y	H	-	1	0	RC3H2	124657939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.993000	0.49425	2.595000	0.87683	0.655000	0.94253	CAT		0.358	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		19	52	0	0	0	1	0	19	52				
NOTCH1	4851	broad.mit.edu	37	9	139393350	139393350	+	Splice_Site	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr9:139393350C>G	ENST00000277541.6	-	33	6256		c.e33+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTCGCGCTCACCCTGTTGTTC	0.622			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.e33+1		notch 1							115.0	125.0	122.0					9																	139393350		2115	4224	6339	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393350C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6180+1G>C	9.37:g.139393350C>G		HNSCC(8;0.001)						NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6256	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)						Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37		CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371362	0.82573	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4199	0.87512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138513171	1.000000	0.71417	0.997000	0.53966	0.801000	0.45260	7.251000	0.78297	2.429000	0.82318	0.561000	0.74099	.		0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Intron	37	130	0	0	0	1	0	37	130				
FAM117A	81558	broad.mit.edu	37	17	47788765	47788765	+	Missense_Mutation	SNP	G	G	A	rs138923537		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:47788765G>A	ENST00000240364.2	-	8	1293	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	FAM117A_ENST00000513602.1_Missense_Mutation_p.P133L|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	405	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGGAGATCCCGGGTTTGAGGG	0.647																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(1213-1215)cCg>cTg		family with sequence similarity 117, member A		G	LEU/PRO	0,4406		0,0,2203	32.0	37.0	35.0		1214	4.4	0.7	17	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM117A	NM_030802.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	405/454	47788765	1,13005	2203	4300	6503	SO:0001583	missense	81558							g.chr17:47788765G>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1214C>T	17.37:g.47788765G>A	ENSP00000240364:p.Pro405Leu					RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.P133L	p.P405L	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			8	1293	-			405			Pro-rich.		B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.1214C>T	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680692	0.68042	0.0	1.16E-4	ENSG00000121104	ENST00000240364	.	.	.	5.32	4.36	0.52297	.	0.074056	0.56097	D	0.000036	T	0.64505	0.2604	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.74674	0.984	T	0.63681	-0.6582	9	0.37606	T	0.19	-16.2464	13.963	0.64193	0.0735:0.0:0.9265:0.0	.	405	Q9C073	F117A_HUMAN	L	405	.	ENSP00000240364:P405L	P	-	2	0	FAM117A	45143764	1.000000	0.71417	0.734000	0.30879	0.685000	0.39939	4.266000	0.58871	1.477000	0.48234	0.557000	0.71058	CCG		0.647	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		19	59	0	0	0	1	0	19	59				
DST	667	broad.mit.edu	37	6	56501368	56501368	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:56501368G>A	ENST00000361203.3	-	19	2421	c.2414C>T	c.(2413-2415)aCa>aTa	p.T805I	DST_ENST00000370754.5_Missense_Mutation_p.T983I|DST_ENST00000518935.1_Missense_Mutation_p.T479I|DST_ENST00000312431.6_Missense_Mutation_p.T805I|DST_ENST00000370788.2_Missense_Mutation_p.T805I|DST_ENST00000446842.2_Missense_Mutation_p.T479I|DST_ENST00000421834.2_Missense_Mutation_p.T805I|DST_ENST00000244364.6_Missense_Mutation_p.T479I|DST_ENST00000370769.4_Missense_Mutation_p.T805I|DST_ENST00000370765.6_Missense_Mutation_p.T479I			Q03001	DYST_HUMAN	dystonin	805					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAATACGCTGTGTTCTCCTT	0.413																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2947-2949)aCa>aTa		dystonin							207.0	168.0	181.0					6																	56501368		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56501368G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2414C>T	6.37:g.56501368G>A	ENSP00000354508:p.Thr805Ile					DST_ENST00000370769.4_Missense_Mutation_p.T805I|DST_ENST00000370765.6_Missense_Mutation_p.T479I|DST_ENST00000518935.1_Missense_Mutation_p.T479I|DST_ENST00000312431.6_Missense_Mutation_p.T805I|DST_ENST00000421834.2_Missense_Mutation_p.T805I|DST_ENST00000446842.2_Missense_Mutation_p.T479I|DST_ENST00000370788.2_Missense_Mutation_p.T805I|DST_ENST00000244364.6_Missense_Mutation_p.T479I|DST_ENST00000361203.3_Missense_Mutation_p.T805I	p.T983I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		22	2947	-	Lung NSC(77;0.103)		805					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2948C>T		.	.	.	.	.	.	.	.	.	.	G	9.207	1.029868	0.19512	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.25	2.28	0.28536	.	0.615853	0.14113	N	0.340594	D	0.88883	0.6558	M	0.71036	2.16	0.23991	N	0.99625	B;P;B;B;B;B;B;B	0.49961	0.0;0.93;0.0;0.003;0.026;0.182;0.0;0.371	B;B;B;B;B;B;B;B	0.44224	0.002;0.296;0.002;0.005;0.06;0.177;0.002;0.444	D	0.83490	0.0069	9	0.35671	T	0.21	.	11.9035	0.52697	0.0709:0.3762:0.5529:0.0	.	805;805;983;479;479;479;805;479	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	I	479;983;805;805;479;805;805;805;479;845;479;479	ENSP00000244364:T479I;ENSP00000359790:T983I;ENSP00000359805:T805I;ENSP00000400883:T805I;ENSP00000393645:T479I;ENSP00000307959:T805I;ENSP00000359824:T805I;ENSP00000354508:T805I;ENSP00000404924:T479I;ENSP00000431030:T845I;ENSP00000359801:T479I;ENSP00000431003:T479I	ENSP00000244364:T479I	T	-	2	0	DST	56609327	0.987000	0.35691	0.178000	0.23040	0.304000	0.27724	3.251000	0.51453	0.733000	0.32492	0.579000	0.79373	ACA		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		26	75	0	0	0	1	0	26	75				
RSU1P2	100133308	broad.mit.edu	37	10	45602470	45602470	+	RNA	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:45602470C>T	ENST00000423875.1	-	0	966									Ras suppressor protein 1 pseudogene 2																		TTGTGAGCTTCCCAATATCTG	0.403																																						ENST00000423875.1																			0																																																			100133308							g.chr10:45602470C>T			10q11.21	2013-06-03			ENSG00000242848	ENSG00000232554			44391	pseudogene	pseudogene							Standard	NR_024472		Approved		uc009xmq.2		OTTHUMG00000185442		10.37:g.45602470C>T														0	966	-									RNA	SNP	ENST00000423875.1	37																																																																																						0.403	RSU1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471233.1			3	21	0	0	0	1	0	3	21				
MUC16	94025	broad.mit.edu	37	19	9046079	9046079	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:9046079G>T	ENST00000397910.4	-	5	35755	c.35552C>A	c.(35551-35553)tCc>tAc	p.S11851Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11853	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATGGGTGGAAAGTGGGGC	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35551-35553)tCc>tAc		mucin 16, cell surface associated							79.0	76.0	77.0					19																	9046079		1930	4154	6084	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046079G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35552C>A	19.37:g.9046079G>T	ENSP00000381008:p.Ser11851Tyr						p.S11851Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35755	-			11853			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35552C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.944002	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.02421	4.3	3.69	2.65	0.31530	.	.	.	.	.	T	0.07279	0.0184	L	0.34521	1.04	.	.	.	D	0.71674	0.998	D	0.68943	0.961	T	0.22138	-1.0225	8	0.87932	D	0	.	9.5473	0.39288	0.1066:0.0:0.8934:0.0	.	11851	B5ME49	.	Y	11851	ENSP00000381008:S11851Y	ENSP00000381008:S11851Y	S	-	2	0	MUC16	8907079	0.041000	0.20044	0.007000	0.13788	0.202000	0.24057	2.627000	0.46469	1.132000	0.42129	0.555000	0.69702	TCC		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		59	72	1	0	4.17463e-26	1	4.8704e-26	59	72				
TP53I11	9537	broad.mit.edu	37	11	44957116	44957116	+	Silent	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr11:44957116G>A	ENST00000533940.1	-	9	1036	c.432C>T	c.(430-432)ttC>ttT	p.F144F	TP53I11_ENST00000395648.3_Silent_p.F144F|TP53I11_ENST00000308212.5_Silent_p.F144F|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000525680.1_Silent_p.F144F	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	144					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ACTCACCCAAGAACTGGACCC	0.582																																						ENST00000533940.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(430-432)ttC>ttT		tumor protein p53 inducible protein 11							87.0	70.0	76.0					11																	44957116		2203	4299	6502	SO:0001819	synonymous_variant	9537				negative regulation of cell proliferation|response to stress	integral to membrane		g.chr11:44957116G>A	AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.432C>T	11.37:g.44957116G>A						TP53I11_ENST00000308212.5_Silent_p.F144F|TP53I11_ENST00000395648.3_Silent_p.F144F|TP53I11_ENST00000525680.1_Silent_p.F144F	p.F144F	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN			9	1036	-			144					Q3ZCS0	Silent	SNP	ENST00000533940.1	37	c.432C>T	CCDS7911.1																																																																																				0.582	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		6	60	0	0	0	1	0	6	60				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	42	0	0	0	1	0	4	42				
NSD1	64324	broad.mit.edu	37	5	176687017	176687017	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr5:176687017C>T	ENST00000439151.2	+	14	5039	c.4994C>T	c.(4993-4995)cCt>cTt	p.P1665L	NSD1_ENST00000361032.4_Missense_Mutation_p.P1562L|NSD1_ENST00000354179.4_Missense_Mutation_p.P1396L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1396L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1665					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTCCGCTGTCCTGTGGCATAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4993-4995)cCt>cTt		nuclear receptor binding SET domain protein 1							131.0	121.0	124.0					5																	176687017		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687017C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4994C>T	5.37:g.176687017C>T	ENSP00000395929:p.Pro1665Leu	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.P1396L|NSD1_ENST00000361032.4_Missense_Mutation_p.P1562L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1396L	p.P1665L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5039	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1665					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4994C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405725	0.96051	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.68	5.68	0.88126	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.97860	0.9297	M	0.80746	2.51	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	0.98027	1.0374	10	0.72032	D	0.01	.	20.14	0.98056	0.0:1.0:0.0:0.0	.	1396;1562;1665	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	L	1396;1665;1396;1562	ENSP00000346111:P1396L;ENSP00000395929:P1665L;ENSP00000343209:P1396L;ENSP00000354310:P1562L	ENSP00000343209:P1396L	P	+	2	0	NSD1	176619623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.837000	0.97791	0.591000	0.81541	CCT		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		63	62	0	0	0	1	0	63	62				
CSGALNACT1	55790	broad.mit.edu	37	8	19363248	19363248	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr8:19363248G>A	ENST00000454498.2	-	4	1111	c.98C>T	c.(97-99)gCc>gTc	p.A33V	CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A33V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	33					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGGGTGCAGGCCAACATGTA	0.617																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(97-99)gCc>gTc		chondroitin sulfate N-acetylgalactosaminyltransferase 1							99.0	100.0	99.0					8																	19363248		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19363248G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.98C>T	8.37:g.19363248G>A	ENSP00000411816:p.Ala33Val					CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A33V|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A33V	p.A33V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1111	-			33					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.98C>T	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033124	0.54896	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.84	4.97	0.65823	.	0.108651	0.64402	D	0.000006	T	0.22589	0.0545	L	0.57536	1.79	0.47009	D	0.999287	B	0.34241	0.444	B	0.38880	0.284	T	0.02313	-1.1178	10	0.06625	T	0.88	-27.2776	13.5976	0.62000	0.0747:0.0:0.9253:0.0	.	33	Q8TDX6	CGAT1_HUMAN	V	33	ENSP00000411816:A33V;ENSP00000330805:A33V;ENSP00000310891:A33V;ENSP00000429809:A33V;ENSP00000442155:A33V	ENSP00000310891:A33V	A	-	2	0	CSGALNACT1	19407528	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.066000	0.64351	1.494000	0.48533	0.655000	0.94253	GCC		0.617	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		37	84	0	0	0	1	0	37	84				
HDAC10	83933	broad.mit.edu	37	22	50684138	50684138	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr22:50684138C>G	ENST00000216271.5	-	19	2304	c.1952G>C	c.(1951-1953)aGa>aCa	p.R651T	TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Missense_Mutation_p.R631T|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.R601T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	651					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCTGCCCTCTCAGGTACAT	0.662																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1951-1953)aGa>aCa		histone deacetylase 10							34.0	34.0	34.0					22																	50684138		2203	4300	6503	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50684138C>G	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1952G>C	22.37:g.50684138C>G	ENSP00000216271:p.Arg651Thr					HDAC10_ENST00000349505.4_Missense_Mutation_p.R631T|HDAC10_ENST00000448072.1_Missense_Mutation_p.R601T|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.R651T	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	19	2304	-		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)	651					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1952G>C	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.012039	0.35511	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.29142	1.58;1.58;1.58	4.79	2.57	0.30868	Histone deacetylase domain (1);	0.732533	0.11617	N	0.546143	T	0.39064	0.1064	L	0.57536	1.79	0.20403	N	0.9999	D;D;D	0.59767	0.982;0.986;0.969	P;P;P	0.58970	0.849;0.776;0.711	T	0.20174	-1.0283	10	0.12766	T	0.61	-1.8146	6.3276	0.21253	0.1807:0.7209:0.0:0.0984	.	631;601;651	Q969S8-2;C9J8B8;Q969S8	.;.;HDA10_HUMAN	T	651;601;631	ENSP00000216271:R651T;ENSP00000397542:R601T;ENSP00000343540:R631T	ENSP00000216271:R651T	R	-	2	0	HDAC10	49026265	0.070000	0.21116	0.015000	0.15790	0.115000	0.19883	1.937000	0.40193	1.225000	0.43566	0.462000	0.41574	AGA		0.662	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		4	43	0	0	0	1	0	4	43				
IMPG2	50939	broad.mit.edu	37	3	100963310	100963310	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:100963310T>C	ENST00000193391.7	-	13	2052	c.1865A>G	c.(1864-1866)gAg>gGg	p.E622G		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	622					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AGCGCTCTTCTCTGATGAAGT	0.433																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1864-1866)gAg>gGg		interphotoreceptor matrix proteoglycan 2							129.0	121.0	124.0					3																	100963310		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963310T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1865A>G	3.37:g.100963310T>C	ENSP00000193391:p.Glu622Gly						p.E622G	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			13	2052	-			622					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1865A>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185242	0.57909	.	.	ENSG00000081148	ENST00000193391	T	0.31247	1.5	5.88	5.88	0.94601	.	0.393186	0.26231	N	0.025569	T	0.32010	0.0815	L	0.32530	0.975	0.34486	D	0.704478	D;D	0.53619	0.961;0.961	P;P	0.47206	0.541;0.541	T	0.48055	-0.9068	10	0.66056	D	0.02	-2.1173	14.8503	0.70292	0.0:0.0:0.0:1.0	.	622;622	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	G	622	ENSP00000193391:E622G	ENSP00000193391:E622G	E	-	2	0	IMPG2	102446000	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.041000	0.49807	2.243000	0.73865	0.533000	0.62120	GAG		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			17	195	0	0	0	1	0	17	195				
PRKCG	5582	broad.mit.edu	37	19	54385908	54385908	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:54385908G>T	ENST00000263431.3	+	1	442	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	PRKCG_ENST00000542049.1_5'Flank|PRKCG_ENST00000536044.1_Missense_Mutation_p.D54Y|PRKCG_ENST00000540413.1_Missense_Mutation_p.D54Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	54					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCACTGCACCGACTTCATCTG	0.622																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(160-162)Gac>Tac		protein kinase C, gamma							48.0	48.0	48.0					19																	54385908		2203	4297	6500	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54385908G>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.160G>T	19.37:g.54385908G>T	ENSP00000263431:p.Asp54Tyr					PRKCG_ENST00000540413.1_Missense_Mutation_p.D54Y|PRKCG_ENST00000536044.1_Missense_Mutation_p.D54Y	p.D54Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	1	442	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		54					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.160G>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703212	0.68501	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.85629	-2.01;-2.01;-2.01	3.84	3.84	0.44239	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	.	.	.	.	D	0.92084	0.7491	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.996;0.997	D	0.93276	0.6656	9	0.87932	D	0	.	13.6297	0.62188	0.0:0.0:1.0:0.0	.	54;54;54;54	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	Y	54;54;54;77	ENSP00000440541:D54Y;ENSP00000443493:D54Y;ENSP00000263431:D54Y	ENSP00000263431:D54Y	D	+	1	0	PRKCG	59077720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.094000	0.76944	1.876000	0.54355	0.491000	0.48974	GAC		0.622	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		20	63	1	0	3.51602e-12	1	3.78648e-12	20	63				
ACAD11	84129	broad.mit.edu	37	3	132378464	132378464	+	Silent	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:132378464C>T	ENST00000264990.6	-	1	1103	c.132G>A	c.(130-132)ctG>ctA	p.L44L	UBA5_ENST00000493720.2_5'Flank|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.L44L|UBA5_ENST00000473651.1_5'Flank|UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000489991.1_5'UTR|UBA5_ENST00000494238.2_5'Flank|ACAD11_ENST00000355458.3_Silent_p.L44L	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	44					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGGCAATGGTCAGCGTAGCCT	0.537											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(130-132)ctG>ctA		acyl-CoA dehydrogenase family, member 11							82.0	80.0	81.0					3																	132378464		2203	4300	6503	SO:0001819	synonymous_variant	84129							g.chr3:132378464C>T	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.132G>A	3.37:g.132378464C>T			OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1594	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.L44L|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000355458.3_Silent_p.L44L|UBA5_ENST00000264991.4_Intron|ACAD11_ENST00000489991.1_5'UTR	p.L44L	NM_032169.4	NP_115545.3					1	1103	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	c.132G>A	CCDS3074.1																																																																																				0.537	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		15	86	0	0	0	1	0	15	86				
SORCS1	114815	broad.mit.edu	37	10	108412274	108412274	+	Missense_Mutation	SNP	C	C	T	rs370679881		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr10:108412274C>T	ENST00000263054.6	-	18	2348	c.2341G>A	c.(2341-2343)Gta>Ata	p.V781I	SORCS1_ENST00000369698.1_Missense_Mutation_p.V316I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V781I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	781					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.V781L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTCCCTTACGCCATCAGTG	0.493																																						ENST00000263054.6																			2	Substitution - Missense(2)	p.V781L(2)	lung(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2341-2343)Gta>Ata		sortilin-related VPS10 domain containing receptor 1		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	131.0	121.0	124.0		2341,2341,2341,2341,2341,2341	5.7	1.0	10		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	781/1199,781/1180,781/1131,781/1160,781/1180,781/1169	108412274	1,13005	2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412274C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2341G>A	10.37:g.108412274C>T	ENSP00000263054:p.Val781Ile					SORCS1_ENST00000369698.1_Missense_Mutation_p.V316I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V781I	p.V781I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2348	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	781					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2341G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501295	0.64298	0.0	1.16E-4	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	VPS10 (1);PKD domain (1);	0.071773	0.56097	D	0.000031	T	0.66426	0.2788	L	0.49571	1.57	0.49687	D	0.999816	P;P;P;P;P	0.47910	0.841;0.902;0.902;0.841;0.902	B;B;B;B;B	0.43508	0.241;0.422;0.422;0.241;0.422	T	0.65022	-0.6269	9	.	.	.	-18.4518	19.9145	0.97053	0.0:1.0:0.0:0.0	.	781;781;781;781;781	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	316;781;781	ENSP00000358712:V316I;ENSP00000263054:V781I;ENSP00000345964:V781I	.	V	-	1	0	SORCS1	108402264	1.000000	0.71417	0.990000	0.47175	0.865000	0.49528	5.631000	0.67812	2.709000	0.92574	0.655000	0.94253	GTA		0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		27	94	0	0	0	1	0	27	94				
HNRNPD	3184	broad.mit.edu	37	4	83279847	83279847	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr4:83279847C>G	ENST00000313899.7	-	4	863	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	HNRNPD_ENST00000543098.1_Missense_Mutation_p.E144Q|HNRNPD_ENST00000541060.1_Missense_Mutation_p.E42Q|HNRNPD_ENST00000353341.4_Missense_Mutation_p.E196Q|HNRNPD_ENST00000352301.4_Missense_Mutation_p.E177Q|HNRNPD_ENST00000508119.1_5'Flank	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	196	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTTATTTTCTCTTCAGGTGTA	0.378																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(586-588)Gag>Cag		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							88.0	93.0	91.0					4																	83279847		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83279847C>G	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.586G>C	4.37:g.83279847C>G	ENSP00000313199:p.Glu196Gln					HNRNPD_ENST00000543098.1_Missense_Mutation_p.E144Q|HNRNPD_ENST00000541060.1_Missense_Mutation_p.E42Q|HNRNPD_ENST00000353341.4_Missense_Mutation_p.E196Q|HNRNPD_ENST00000352301.4_Missense_Mutation_p.E177Q	p.E196Q	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			4	863	-			196			RRM 2.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.586G>C	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698938|3.698938	0.68501|0.68501	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432|ENST00000514671	D;D;D;D;D;D;D;D|.	0.85702|.	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73241|0.73241	0.3562|0.3562	L|L	0.55743|0.55743	1.74|1.74	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.48998|.	0.918;0.847;0.521;0.731|.	P;P;P;P|.	0.58210|.	0.835;0.73;0.452;0.588|.	T|T	0.67360|0.67360	-0.5690|-0.5690	10|5	0.72032|.	D|.	0.01|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	177;196;177;196|.	Q14103-4;Q14103-3;Q14103-2;Q14103|.	.;.;.;HNRPD_HUMAN|.	Q|T	196;196;177;144;171;42;129;196;98|99	ENSP00000313199:E196Q;ENSP00000313327:E196Q;ENSP00000305860:E177Q;ENSP00000439380:E144Q;ENSP00000437416:E42Q;ENSP00000420926:E129Q;ENSP00000421952:E196Q;ENSP00000426666:E98Q|.	ENSP00000307544:E171Q|.	E|R	-|-	1|2	0|0	HNRNPD|HNRNPD	83498871|83498871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.369000|0.369000	0.29798|0.29798	7.487000|7.487000	0.81328|0.81328	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.378	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		33	49	0	0	0	1	0	33	49				
ZNF823	55552	broad.mit.edu	37	19	11833927	11833927	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:11833927C>T	ENST00000341191.6	-	4	575	c.422G>A	c.(421-423)cGt>cAt	p.R141H	CTC-499B15.6_ENST00000586983.1_RNA|ZNF823_ENST00000440527.1_Intron|ZNF823_ENST00000545749.1_De_novo_Start_OutOfFrame	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GGCTTTCCCACGTTGTTTATG	0.438										HNSCC(68;0.2)																												ENST00000545749.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26								zinc finger protein 823							205.0	198.0	200.0					19																	11833927		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833927C>T	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.422G>A	19.37:g.11833927C>T	ENSP00000340683:p.Arg141His	HNSCC(68;0.2)				ZNF823_ENST00000341191.6_Missense_Mutation_p.R141H|ZNF823_ENST00000440527.1_Intron				P16415	ZN823_HUMAN			0	514	-								A0PJL4|B7Z8D4|Q6P4A9	Translation_Start_Site	SNP	ENST00000341191.6	37		CCDS45981.1	.	.	.	.	.	.	.	.	.	.	c	14.27	2.485178	0.44147	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.27720	1.65;1.65	0.632	0.632	0.17705	.	.	.	.	.	T	0.15046	0.0363	N	0.17474	0.49	0.80722	D	1	D	0.53619	0.961	B	0.37267	0.245	T	0.08027	-1.0742	9	0.66056	D	0.02	.	8.7993	0.34898	0.0:1.0:0.0:0.0	.	141	P16415	ZN823_HUMAN	H	141;97	ENSP00000340683:R141H;ENSP00000410654:R97H	ENSP00000340683:R141H	R	-	2	0	ZNF823	11694927	0.006000	0.16342	0.076000	0.20297	0.289000	0.27227	1.733000	0.38156	0.618000	0.30179	0.298000	0.19748	CGT		0.438	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		23	143	0	0	0	1	0	23	143				
KMT2C	58508	broad.mit.edu	37	7	151868382	151868382	+	Silent	SNP	T	T	C			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:151868382T>C	ENST00000262189.6	-	40	9638	c.9420A>G	c.(9418-9420)gaA>gaG	p.E3140E	KMT2C_ENST00000355193.2_Silent_p.E3140E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3140	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTTCTGTCCTTCACTGTTCT	0.443																																						ENST00000355193.2																			0											c.(9418-9420)gaA>gaG		lysine (K)-specific methyltransferase 2C							178.0	141.0	153.0					7																	151868382		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151868382T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9420A>G	7.37:g.151868382T>C						KMT2C_ENST00000262189.6_Silent_p.E3140E	p.E3140E							40	9638	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.9420A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.955	0.745623	0.15710	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.86	-6.5	0.01884	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	4	.	.	.	.	12.1763	0.54188	0.1883:0.0:0.5783:0.2333	.	.	.	.	G	646	.	.	R	-	1	2	MLL3	151499315	0.833000	0.29383	0.713000	0.30519	0.033000	0.12548	-0.361000	0.07612	-0.854000	0.04131	0.533000	0.62120	AGG		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			3	12	0	0	0	1	0	3	12				
STK39	27347	broad.mit.edu	37	2	169103872	169103892	+	In_Frame_Del	DEL	GCCGCCGCCGCTGTCACCGGG	GCCGCCGCCGCTGTCACCGGG	-	rs546073753	byFrequency	TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG	ENST00000355999.4	-	1	759_779	c.54_74delCCCGGTGACAGCGGCGGCGGC	c.(52-75)gccccggtgacagcggcggcggcg>gcg	p.18_25APVTAAAA>A		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	18	Ala/Pro-rich.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						cggggccgccgccgccgccgctgtcaccggggccgccTGCT	0.814																																						ENST00000355999.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						c.(52-75)gcg>gc		serine threonine kinase 39																																				SO:0001651	inframe_deletion	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.54_74delCCCGGTGACAGCGGCGGCGGC	2.37:g.169103872_169103892delGCCGCCGCCGCTGTCACCGGG	ENSP00000348278:p.Ala18_Ala24del						p.APVTAAAA18del	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN			1	759_779	-			18			Ala/Pro-rich.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	In_Frame_Del	DEL	ENST00000355999.4	37	c.54_74delCCCGGTGACAGCGGCGGCGGC	CCDS42770.1																																																																																				0.814	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233		7	12						7	12	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97251229	97251229	+	Frame_Shift_Del	DEL	G	G	-	rs563927948		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr3:97251229delG	ENST00000514100.1	+	8	646	c.404delG	c.(403-405)cgtfs	p.R135fs	EPHA6_ENST00000502694.1_Frame_Shift_Del_p.R135fs|EPHA6_ENST00000389672.5_Frame_Shift_Del_p.R743fs|EPHA6_ENST00000442602.2_Frame_Shift_Del_p.R109fs	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	649	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTAGTGGGCGTTTGAAGACA	0.388																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2227-2229)ctfs		EPH receptor A6							133.0	128.0	130.0					3																	97251229		1833	4097	5930	SO:0001589	frameshift_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97251229delG	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.404delG	3.37:g.97251229delG	ENSP00000421711:p.Arg135fs					EPHA6_ENST00000442602.2_Frame_Shift_Del_p.R109fs|EPHA6_ENST00000502694.1_Frame_Shift_Del_p.R135fs|EPHA6_ENST00000514100.1_Frame_Shift_Del_p.R135fs	p.R743fs	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			11	2266	+			648			Protein kinase.		D6RAL5	Frame_Shift_Del	DEL	ENST00000514100.1	37	c.2228delG																																																																																					0.388	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		12	172						12	172	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6174921	6174921	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:6174921delG	ENST00000264870.3	-	12	1904	c.1639delC	c.(1639-1641)cgtfs	p.R547fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	547					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R547C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGTGTAACGGTTGTGGCTG	0.507																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R547C(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1639-1641)gtfs		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						317.0	253.0	275.0					6																	6174921		2203	4300	6503	SO:0001589	frameshift_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6174921delG	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1639delC	6.37:g.6174921delG	ENSP00000264870:p.Arg547fs						p.R547fs	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			12	1904	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	547					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Frame_Shift_Del	DEL	ENST00000264870.3	37	c.1639delC	CCDS4496.1																																																																																				0.507	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		25	90						25	90	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	256						7	256	---	---	---	---
RPF2	84154	broad.mit.edu	37	6	111329306	111329307	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr6:111329306_111329307delAG	ENST00000441448.2	+	7	551_552	c.459_460delAG	c.(457-462)acagaafs	p.E154fs	RNU6-906P_ENST00000384700.1_RNA	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	154	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TCGATGTAACAGAAGATTATAG	0.332																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(457-462)acaafs		ribosome production factor 2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	84154					nucleolus	protein binding	g.chr6:111329306_111329307delAG	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.459_460delAG	6.37:g.111329306_111329307delAG	ENSP00000402338:p.Glu154fs						p.TE153fs	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			7	551_552	+			153			Brix.		Q5VXN1|Q8N4A1	Frame_Shift_Del	DEL	ENST00000441448.2	37	c.459_460delAG	CCDS5088.1																																																																																				0.332	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		8	66						8	66	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4828533	4828533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr7:4828533delC	ENST00000348624.4	+	13	1752	c.1658delC	c.(1657-1659)gccfs	p.A553fs	AP5Z1_ENST00000401897.1_Frame_Shift_Del_p.A553fs|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	553					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCCAGTGTGCCCAGGCCGTG	0.692																																						ENST00000348624.4																			0											c.(1657-1659)gcfs		adaptor-related protein complex 5, zeta 1 subunit							18.0	20.0	19.0					7																	4828533		2175	4267	6442	SO:0001589	frameshift_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4828533delC	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1658delC	7.37:g.4828533delC	ENSP00000297562:p.Ala553fs					AP5Z1_ENST00000401897.1_Frame_Shift_Del_p.A553fs	p.A553fs	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			13	1752	+			553					Q8N3X2|Q96H80	Frame_Shift_Del	DEL	ENST00000348624.4	37	c.1658delC	CCDS47528.1																																																																																				0.692	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			19	69						19	69	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121670836	121670837	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr12:121670836_121670837insT	ENST00000337233.4	+	11	1389_1390	c.1081_1082insT	c.(1081-1083)atgfs	p.M361fs	P2RX4_ENST00000359949.7_Frame_Shift_Ins_p.M377fs|P2RX4_ENST00000543171.1_Frame_Shift_Ins_p.M260fs	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	361					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCTACTGCATGAAGAAAAGA	0.495																																						ENST00000337233.4																			0				breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1081-1083)gaafs		purinergic receptor P2X, ligand-gated ion channel, 4																																				SO:0001589	frameshift_variant	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121670836_121670837insT	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.1082dupT	12.37:g.121670837_121670837dupT	ENSP00000336607:p.Met361fs					P2RX4_ENST00000543171.1_Frame_Shift_Ins_p.E260fs|P2RX4_ENST00000359949.7_Frame_Shift_Ins_p.E377fs	p.E361fs	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN			11	1389_1390	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		361					E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Frame_Shift_Ins	INS	ENST00000337233.4	37	c.1081_1082insT	CCDS9214.1																																																																																				0.495	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		138	296						138	296	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Deletion - In frame(1)	p.H108delH(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(322-327)cag>ca		POU class 4 homeobox 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	p.HQ108del	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	535_537	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																				0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			3	4						3	4	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61345182	61345190	+	In_Frame_Del	DEL	ACGAATGCC	ACGAATGCC	-			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr17:61345182_61345190delACGAATGCC	ENST00000424789.2	+	7	889_897	c.885_893delACGAATGCC	c.(883-894)ctacgaatgcca>cta	p.RMP296del	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_In_Frame_Del_p.RMP296del	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	296					in utero embryonic development (GO:0001701)			p.M297I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAACTTCTCTACGAATGCCAAGACAGAGC	0.483																																						ENST00000424789.2																			2	Substitution - Missense(2)	p.M297I(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(883-894)cta>ct		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2																																				SO:0001651	inframe_deletion	26115						binding	g.chr17:61345182_61345190delACGAATGCC	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.885_893delACGAATGCC	17.37:g.61345182_61345190delACGAATGCC	ENSP00000387593:p.Arg296_Pro298del					TANC2_ENST00000389520.4_In_Frame_Del_p.LRMP295del|AC037445.1_ENST00000581421.1_RNA	p.LRMP295del	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			7	889_897	+			295					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	In_Frame_Del	DEL	ENST00000424789.2	37	c.885_893delACGAATGCC	CCDS45754.1																																																																																				0.483	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			8	43						8	43	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	136						7	136	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	100133163							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	5						4	5	---	---	---	---
EP300-AS1	101927279	broad.mit.edu	37	22	41585696	41585697	+	RNA	INS	-	-	T	rs574135068		TCGA-BA-A4IF-01A-11D-A25Y-08	TCGA-BA-A4IF-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d0d2a4-d35d-4d63-9027-0995f487d377	aa9e0b6f-0add-4de6-bae3-be1f4e19081d	g.chr22:41585696_41585697insT	ENST00000420537.1	-	0	223																											cctgcTGGCCATTTTTTTTTTC	0.49																																						ENST00000420537.1																			0																																																			101927279							g.chr22:41585696_41585697insT																													22.37:g.41585706_41585706dupT														0	223	-									RNA	INS	ENST00000420537.1	37																																																																																						0.490	RP1-85F18.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000320612.1			2	4						2	4	---	---	---	---
