#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
KRT84	3890	broad.mit.edu	37	12	52779179	52779179	+	Missense_Mutation	SNP	C	C	A	rs575564721	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52779179C>A	ENST00000257951.3	-	1	257	c.191G>T	c.(190-192)cGg>cTg	p.R64L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	64	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCTATCCGGGGTGAGTA	0.597																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(190-192)cGg>cTg		keratin 84							93.0	90.0	91.0					12																	52779179		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52779179C>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.191G>T	12.37:g.52779179C>A	ENSP00000257951:p.Arg64Leu					RP3-416H24.4_ENST00000547174.1_RNA	p.R64L	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	257	-	all_hematologic(5;0.12)		64			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.191G>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238350	0.39598	.	.	ENSG00000161849	ENST00000257951	D	0.82433	-1.61	5.15	3.32	0.38043	.	0.348955	0.21654	N	0.071122	T	0.78285	0.4259	M	0.86740	2.835	0.19575	N	0.999968	P	0.44090	0.826	B	0.32090	0.14	T	0.69394	-0.5157	10	0.11485	T	0.65	.	9.6396	0.39831	0.0:0.7781:0.0:0.2219	.	64	Q9NSB2	KRT84_HUMAN	L	64	ENSP00000257951:R64L	ENSP00000257951:R64L	R	-	2	0	KRT84	51065446	0.103000	0.21917	0.922000	0.36590	0.044000	0.14063	0.258000	0.18387	1.537000	0.49254	0.609000	0.83330	CGG		0.597	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		3	61	1	0	1	1	1	3	61				
GSTA4	2941	broad.mit.edu	37	6	52843274	52843274	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:52843274C>A	ENST00000370959.1	-	7	780	c.663G>T	c.(661-663)agG>agT	p.R221S	GSTA4_ENST00000370960.1_Missense_Mutation_p.R128S|GSTA4_ENST00000541324.1_Missense_Mutation_p.R128S|Y_RNA_ENST00000516297.1_RNA|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	221					glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TGTTTTATGGCCTAAAGATGT	0.418																																						ENST00000541324.1																			0				endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.(382-384)agG>agT		glutathione S-transferase alpha 4	Glutathione(DB00143)						196.0	169.0	178.0					6																	52843274		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52843274C>A	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.663G>T	6.37:g.52843274C>A	ENSP00000359998:p.Arg221Ser					GSTA4_ENST00000370959.1_Missense_Mutation_p.R221S|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Missense_Mutation_p.R128S	p.R128S			O15217	GSTA4_HUMAN			5	649	-	Lung NSC(77;0.103)		221			GST C-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.384G>T	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935310	0.34189	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959	T;T;T;T	0.05025	4.76;3.51;3.51;4.76	5.49	3.39	0.38822	.	2.186880	0.01207	N	0.007733	T	0.01029	0.0034	N	0.03016	-0.435	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45571	-0.9252	10	0.72032	D	0.01	-0.5401	2.5224	0.04683	0.2482:0.5098:0.0:0.242	.	221	O15217	GSTA4_HUMAN	S	221;128;128;221	ENSP00000360002:R221S;ENSP00000439439:R128S;ENSP00000359999:R128S;ENSP00000359998:R221S	ENSP00000359998:R221S	R	-	3	2	GSTA4	52951233	0.054000	0.20591	0.018000	0.16275	0.015000	0.08874	0.231000	0.17872	1.358000	0.45922	0.650000	0.86243	AGG		0.418	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		4	117	1	0	0.184627	1	0.187089	4	117				
KRT6C	286887	broad.mit.edu	37	12	52863046	52863046	+	Missense_Mutation	SNP	C	C	T	rs140943956	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52863046C>T	ENST00000252250.6	-	9	1542	c.1495G>A	c.(1495-1497)Ggt>Agt	p.G499S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	499	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G499S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCGCTGGCACCGCCATAGCCA	0.612													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21083	0.0		0.0	False		,,,				2504	0.0					ENST00000252250.6																			1	Substitution - Missense(1)	p.G499S(1)	skin(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1495-1497)Ggt>Agt		keratin 6C		C	SER/GLY	3,4403	6.2+/-15.9	0,3,2200	45.0	43.0	44.0		1495	-3.0	0.0	12	dbSNP_134	44	0,8600		0,0,4300	no	missense	KRT6C	NM_173086.4	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	499/565	52863046	3,13003	2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863046C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1495G>A	12.37:g.52863046C>T	ENSP00000252250:p.Gly499Ser						p.G499S	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	9	1542	-			499			Tail.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1495G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027522	0.19512	6.81E-4	0.0	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90197	-2.63	3.35	-3.05	0.05396	.	0.764153	0.11858	N	0.522647	T	0.78394	0.4276	N	0.15975	0.35	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.63229	-0.6684	10	0.35671	T	0.21	.	7.3586	0.26733	0.1246:0.6854:0.0:0.1899	.	499	P48668	K2C6C_HUMAN	S	499;484	ENSP00000252250:G499S	ENSP00000252250:G499S	G	-	1	0	KRT6C	51149313	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.904000	0.01593	-0.571000	0.06014	0.448000	0.29417	GGT		0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		7	30	0	0	0	1	0	7	30				
ATRX	546	broad.mit.edu	37	X	76813014	76813014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:76813014C>A	ENST00000373344.5	-	30	6821	c.6607G>T	c.(6607-6609)Gag>Tag	p.E2203*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E2165*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2203	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAGTAAGCTCATTCATAGTA	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6607-6609)Gag>Tag		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						152.0	141.0	145.0					X																	76813014		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813014C>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6607G>T	X.37:g.76813014C>A	ENSP00000362441:p.Glu2203*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E2165*	p.E2203*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6821	-			2203			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6607G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	49	15.586796	0.99838	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.4908	18.5298	0.90987	0.0:1.0:0.0:0.0	.	.	.	.	X	2203;2165	.	ENSP00000362441:E2203X	E	-	1	0	ATRX	76699670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.319000	0.78375	0.594000	0.82650	GAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		47	57	1	0	8.04919e-23	1	8.61603e-23	47	57				
EPB41L3	23136	broad.mit.edu	37	18	5397173	5397173	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr18:5397173C>G	ENST00000341928.2	-	18	3065	c.2725G>C	c.(2725-2727)Gtc>Ctc	p.V909L	EPB41L3_ENST00000427684.2_Missense_Mutation_p.V206L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V687L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V909L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V687L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V740L|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V214L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	909	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTTTAGCGACCTCCTCCCCT	0.567																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2725-2727)Gtc>Ctc		erythrocyte membrane protein band 4.1-like 3							125.0	103.0	110.0					18																	5397173		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397173C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2725G>C	18.37:g.5397173C>G	ENSP00000343158:p.Val909Leu					EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V214L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V909L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V687L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V740L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V687L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V206L	p.V909L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			18	3065	-			909			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2725G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104659	0.20632	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.78	3.97	0.46021	.	1.106020	0.06694	N	0.770227	T	0.49047	0.1534	L	0.29908	0.895	0.30194	N	0.799216	B;B;B;B;B;B;B;B	0.30511	0.019;0.282;0.234;0.008;0.002;0.004;0.017;0.025	B;B;B;B;B;B;B;B	0.40982	0.046;0.345;0.209;0.021;0.002;0.019;0.044;0.008	T	0.48854	-0.8998	10	0.19147	T	0.46	.	10.447	0.44499	0.135:0.7951:0.0:0.0699	.	740;206;214;301;578;687;909;144	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	L	909;578;740;578;206;214;909;687	ENSP00000343158:V909L;ENSP00000441174:V740L;ENSP00000392195:V206L;ENSP00000442233:V214L;ENSP00000341138:V909L;ENSP00000382981:V687L	ENSP00000343158:V909L	V	-	1	0	EPB41L3	5387173	0.999000	0.42202	0.345000	0.25642	0.211000	0.24417	1.995000	0.40767	0.773000	0.33404	0.591000	0.81541	GTC		0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		7	110	0	0	0	1	0	7	110				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		3	37	0	0	0	1	0	3	37				
PLCZ1	89869	broad.mit.edu	37	12	18854628	18854628	+	Missense_Mutation	SNP	C	C	T	rs200642156		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:18854628C>T	ENST00000538330.1	-	5	551	c.170G>A	c.(169-171)cGt>cAt	p.R57H	PLCZ1_ENST00000447925.2_Missense_Mutation_p.R314H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R121H|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.R179H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R316H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R123H					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CACCTTACCACGCTTATCAGA	0.413																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(940-942)cGt>cAt		phospholipase C, zeta 1		C	HIS/ARG	0,4406		0,0,2203	102.0	96.0	98.0		947	0.2	0.0	12		98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PLCZ1	NM_033123.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	316/609	18854628	1,13005	2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854628C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.170G>A	12.37:g.18854628C>T	ENSP00000445880:p.Arg57His					PLCZ1_ENST00000541695.1_Missense_Mutation_p.R179H|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R121H|PLCZ1_ENST00000538330.1_Missense_Mutation_p.R57H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R316H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R123H	p.R314H	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			8	1210	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		316						Missense_Mutation	SNP	ENST00000538330.1	37	c.941G>A		.	.	.	.	.	.	.	.	.	.	C	8.947	0.967153	0.18659	0.0	1.16E-4	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.63255	2.91;0.65;0.65;-0.03;0.65;-0.03;-0.03;0.65;-0.03	5.35	0.189	0.15119	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	5.128040	0.00706	N	0.000810	T	0.34106	0.0886	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	10	0.38643	T	0.18	.	7.7233	0.28744	0.0:0.3619:0.0:0.6381	.	316;57	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	H	57;316;314;121;179;123;51;57;143	ENSP00000445880:R57H;ENSP00000266505:R316H;ENSP00000402358:R314H;ENSP00000400504:R121H;ENSP00000443349:R179H;ENSP00000445026:R123H;ENSP00000445889:R51H;ENSP00000443762:R57H;ENSP00000438629:R143H	ENSP00000266505:R316H	R	-	2	0	PLCZ1	18745895	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.008000	0.13197	-0.105000	0.12132	-0.982000	0.02568	CGT		0.413	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		4	19	0	0	0	1	0	4	19				
LACTB2	51110	broad.mit.edu	37	8	71581352	71581352	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:71581352C>G	ENST00000276590.4	-	1	40	c.4G>C	c.(4-6)Gct>Cct	p.A2P	XKR9_ENST00000408926.3_5'Flank|LACTB2_ENST00000522447.1_Missense_Mutation_p.A2P|XKR9_ENST00000520030.1_5'Flank	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	2						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTACAGCAGCCATTCCCGCC	0.642											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000276590.4																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10						c.(4-6)Gct>Cct		lactamase, beta 2							22.0	21.0	22.0					8																	71581352		2175	4241	6416	SO:0001583	missense	51110						hydrolase activity|metal ion binding	g.chr8:71581352C>G	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.4G>C	8.37:g.71581352C>G	ENSP00000276590:p.Ala2Pro		OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	LACTB2_ENST00000522447.1_Missense_Mutation_p.A2P	p.A2P	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		1	40	-	Breast(64;0.0716)		2					A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	c.4G>C	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961933	0.53400	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	D;D	0.95554	-3.74;-3.74	4.66	-4.43	0.03568	.	0.795698	0.12193	N	0.490999	D	0.89608	0.6764	L	0.50333	1.59	0.22001	N	0.999423	P	0.37955	0.612	B	0.32289	0.143	T	0.81531	-0.0890	10	0.39692	T	0.17	-2.8608	6.4873	0.22095	0.549:0.2476:0.0:0.2034	.	2	Q53H82	LACB2_HUMAN	P	2	ENSP00000428801:A2P;ENSP00000276590:A2P	ENSP00000276590:A2P	A	-	1	0	LACTB2	71743906	0.554000	0.26522	0.029000	0.17559	0.105000	0.19272	-0.172000	0.09868	-0.482000	0.06782	0.650000	0.86243	GCT		0.642	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		3	29	0	0	0	1	0	3	29				
RGS14	10636	broad.mit.edu	37	5	176792987	176792987	+	Splice_Site	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:176792987T>C	ENST00000408923.3	+	2	255		c.e2+2			NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14						cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CAGATGGAGGTAAGTGACAGA	0.567																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.e2+2		regulator of G-protein signaling 14							163.0	169.0	167.0					5																	176792987		1963	4155	6118	SO:0001630	splice_region_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176792987T>C	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.67+2T>C	5.37:g.176792987T>C								NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	255	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						O43565|Q506M1|Q6ZWA4|Q8TD62	Splice_Site	SNP	ENST00000408923.3	37		CCDS43405.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536859	0.45176	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6127	0.56560	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS14	176725593	1.000000	0.71417	0.996000	0.52242	0.520000	0.34377	6.415000	0.73328	1.715000	0.51383	0.374000	0.22700	.		0.567	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480	Intron	4	210	0	0	0	1	0	4	210				
SLC7A8	23428	broad.mit.edu	37	14	23598869	23598869	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr14:23598869C>T	ENST00000316902.7	-	9	1978	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	SLC7A8_ENST00000529705.2_Missense_Mutation_p.R313H|SLC7A8_ENST00000422941.2_Missense_Mutation_p.R194H|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R215H	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	418					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTTGATGGGGCGGGGGATATC	0.498																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(1252-1254)cGc>cAc		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						120.0	115.0	117.0					14																	23598869		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23598869C>T	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1253G>A	14.37:g.23598869C>T	ENSP00000320378:p.Arg418His					SLC7A8_ENST00000422941.2_Missense_Mutation_p.R194H|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R215H|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R313H	p.R418H	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	9	1978	-	all_cancers(95;4.6e-05)		418					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.1253G>A	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527624	0.96431	.	.	ENSG00000092068	ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.86	5.86	0.93980	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.98171	1.0452	10	0.87932	D	0	.	18.958	0.92668	0.0:1.0:0.0:0.0	.	313;194;418	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	H	418;215;313;194;215	ENSP00000320378:R418H;ENSP00000391577:R215H;ENSP00000434345:R313H;ENSP00000416398:R194H	ENSP00000206514:R215H	R	-	2	0	SLC7A8	22668709	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.518000	0.81795	2.775000	0.95449	0.655000	0.94253	CGC		0.498	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			5	163	0	0	0	1	0	5	163				
PBXIP1	57326	broad.mit.edu	37	1	154924372	154924372	+	Missense_Mutation	SNP	G	G	A	rs202178266		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:154924372G>A	ENST00000368463.3	-	3	148	c.77C>T	c.(76-78)cCg>cTg	p.P26L	PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P26L|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_5'UTR	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGGATGCCGGGCCCAGTGT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16506	0.0		0.001	False		,,,				2504	0.0					ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(76-78)cCg>cTg		pre-B-cell leukemia homeobox interacting protein 1							74.0	79.0	78.0					1																	154924372		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154924372G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.77C>T	1.37:g.154924372G>A	ENSP00000357448:p.Pro26Leu					PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P26L|PBXIP1_ENST00000368465.1_5'UTR|PBXIP1_ENST00000542459.1_Intron	p.P26L	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	148	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		26					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.77C>T	CCDS1074.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.97	2.693356	0.48202	.	.	ENSG00000163346	ENST00000368463;ENST00000351146;ENST00000368460	T;T	0.15952	2.38;2.38	4.67	4.67	0.58626	.	0.000000	0.49305	D	0.000153	T	0.30198	0.0757	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02789	-1.1110	10	0.87932	D	0	-4.3045	12.928	0.58270	0.0:0.0:1.0:0.0	.	26	Q96AQ6	PBIP1_HUMAN	L	26	ENSP00000357448:P26L;ENSP00000357445:P26L	ENSP00000295523:P26L	P	-	2	0	PBXIP1	153190996	1.000000	0.71417	0.937000	0.37676	0.010000	0.07245	3.192000	0.50989	2.406000	0.81754	0.555000	0.69702	CCG		0.592	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		3	70	0	0	0	1	0	3	70				
FAM57B	83723	broad.mit.edu	37	16	30037991	30037991	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:30037991T>C	ENST00000380495.4	-	3	1114	c.383A>G	c.(382-384)aAg>aGg	p.K128R	FAM57B_ENST00000279389.4_Missense_Mutation_p.K78R|FAM57B_ENST00000564806.1_Missense_Mutation_p.K78R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	128	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGAACTCCTTGTGCAGGTA	0.677																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(382-384)aAg>aGg		family with sequence similarity 57, member B							62.0	56.0	58.0					16																	30037991		2197	4300	6497	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30037991T>C	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.383A>G	16.37:g.30037991T>C	ENSP00000369863:p.Lys128Arg					FAM57B_ENST00000564806.1_Missense_Mutation_p.K78R|FAM57B_ENST00000279389.4_Missense_Mutation_p.K78R	p.K128R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			3	1114	-			128			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.383A>G	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.44|13.44	2.238468|2.238468	0.39598|0.39598	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000380495|ENST00000279389	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	TRAM/LAG1/CLN8 homology domain (3);|.	0.056282|.	0.64402|.	D|.	0.000003|.	T|T	0.40694|0.40694	0.1127|0.1127	N|N	0.11364|0.11364	0.135|0.135	0.36806|0.36806	D|D	0.885625|0.885625	B;B|.	0.29909|.	0.217;0.261|.	B;B|.	0.36378|.	0.193;0.223|.	T|T	0.48433|0.48433	-0.9036|-0.9036	9|5	0.17832|.	T|.	0.49|.	-0.4012|-0.4012	15.1763|15.1763	0.72913|0.72913	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	128;128|.	F1T0F5;Q71RH2|.	.;FA57B_HUMAN|.	R|G	128|95	.|.	ENSP00000369863:K128R|.	K|R	-|-	2|1	0|2	FAM57B|FAM57B	29945492|29945492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	4.707000|4.707000	0.61852|0.61852	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.677	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		18	40	0	0	0	1	0	18	40				
AIM1	202	broad.mit.edu	37	6	106992514	106992514	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:106992514A>G	ENST00000369066.3	+	10	4371	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	AIM1_ENST00000535438.1_Missense_Mutation_p.D114G|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAATACAGGGACTGGAAAGCC	0.418																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3883-3885)gAc>gGc		absent in melanoma 1							94.0	97.0	96.0					6																	106992514		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106992514A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3884A>G	6.37:g.106992514A>G	ENSP00000358062:p.Asp1295Gly					AIM1_ENST00000535438.1_Missense_Mutation_p.D114G|AIM1_ENST00000487681.1_3'UTR	p.D1295G	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	10	4371	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1295			Beta/gamma crystallin 'Greek key' 6.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3884A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076791	0.76415	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.77750	-1.12;-1.12;-1.12	5.85	5.85	0.93711	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.168164	0.64402	D	0.000004	T	0.81941	0.4929	M	0.90082	3.085	0.54753	D	0.999981	P;B	0.39131	0.661;0.117	P;B	0.44447	0.45;0.351	D	0.85939	0.1457	10	0.87932	D	0	.	16.2271	0.82306	1.0:0.0:0.0:0.0	.	114;1295	B4DU04;Q9Y4K1	.;AIM1_HUMAN	G	1295;114;114	ENSP00000358062:D1295G;ENSP00000391419:D114G;ENSP00000439183:D114G	ENSP00000358062:D1295G	D	+	2	0	AIM1	107099207	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.387000	0.66243	2.237000	0.73441	0.533000	0.62120	GAC		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			4	67	0	0	0	1	0	4	67				
SCD	6319	broad.mit.edu	37	10	102112184	102112184	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:102112184C>T	ENST00000370355.2	+	3	753	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	124					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GTCTGTGGAGCCACCGCTCTT	0.522																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(370-372)agC>agT		stearoyl-CoA desaturase (delta-9-desaturase)							137.0	130.0	132.0					10																	102112184		2203	4300	6503	SO:0001819	synonymous_variant	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102112184C>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.372C>T	10.37:g.102112184C>T							p.S124S	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	3	753	+		Colorectal(252;0.0323)	124					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Silent	SNP	ENST00000370355.2	37	c.372C>T	CCDS7493.1																																																																																				0.522	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		67	119	0	0	0	1	0	67	119				
CEP68	23177	broad.mit.edu	37	2	65296819	65296819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296819C>G	ENST00000377990.2	+	2	444	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CEP68_ENST00000537589.1_Intron|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000546106.1_Missense_Mutation_p.P81A|CEP68_ENST00000260569.4_Missense_Mutation_p.P81A	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCCACCAGCCACAGGCCAG	0.632																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(241-243)Cca>Gca		centrosomal protein 68kDa							36.0	42.0	40.0					2																	65296819		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65296819C>G	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.241C>G	2.37:g.65296819C>G	ENSP00000367229:p.Pro81Ala					CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.P81A|CEP68_ENST00000546106.1_Missense_Mutation_p.P81A	p.P81A	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			2	444	+			81					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.241C>G	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591056	0.28357	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.28255	1.62;1.62;1.62	4.56	0.569	0.17340	.	0.561249	0.15174	N	0.276473	T	0.19406	0.0466	L	0.32530	0.975	0.09310	N	1	B;B;B;P;B	0.39022	0.017;0.017;0.007;0.655;0.017	B;B;B;B;B	0.40677	0.011;0.011;0.007;0.337;0.011	T	0.15235	-1.0444	10	0.17369	T	0.5	-0.0043	4.6767	0.12715	0.0:0.4498:0.3492:0.201	.	69;81;81;81;81	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	A	81;81;81;69	ENSP00000367229:P81A;ENSP00000438306:P81A;ENSP00000260569:P81A	ENSP00000260569:P81A	P	+	1	0	CEP68	65150323	0.001000	0.12720	0.004000	0.12327	0.026000	0.11368	0.297000	0.19101	0.090000	0.17273	-0.302000	0.09304	CCA		0.632	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		9	53	0	0	0	1	0	9	53				
MUC17	140453	broad.mit.edu	37	7	100696423	100696423	+	Silent	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:100696423G>C	ENST00000306151.4	+	10	13324	c.13260G>C	c.(13258-13260)gtG>gtC	p.V4420V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4420					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGAGAGAGGTGAAACGGTGAG	0.567																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13258-13260)gtG>gtC		mucin 17, cell surface associated							76.0	60.0	66.0					7																	100696423		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696423G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13260G>C	7.37:g.100696423G>C							p.V4420V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			10	13324	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4420					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13260G>C	CCDS34711.1																																																																																				0.567	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	26	0	0	0	1	0	7	26				
GNAO1	2775	broad.mit.edu	37	16	56226231	56226231	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:56226231C>G	ENST00000262493.6	+	1	930	c.84C>G	c.(82-84)atC>atG	p.I28M	RP11-461O7.1_ENST00000501259.1_lincRNA|GNAO1_ENST00000569295.1_3'UTR|CTD-2050B12.2_ENST00000567381.1_RNA|GNAO1_ENST00000262494.7_Missense_Mutation_p.I28M	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	28					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGATGGCATCAGCGCCGCCA	0.637																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(82-84)atC>atG		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							40.0	43.0	42.0					16																	56226231		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56226231C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.84C>G	16.37:g.56226231C>G	ENSP00000262493:p.Ile28Met					GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_Missense_Mutation_p.I28M	p.I28M	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			1	344	+		all_neural(199;0.159)	28					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.84C>G	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451564	0.43531	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.88201	-2.35;-2.35	4.75	3.76	0.43208	.	0.129961	0.52532	D	0.000063	T	0.78084	0.4228	N	0.10760	0.04	0.43050	D	0.994656	B;B	0.06786	0.001;0.001	B;B	0.18871	0.021;0.023	T	0.70883	-0.4751	10	0.36615	T	0.2	.	13.3624	0.60663	0.0:0.8402:0.1598:0.0	.	28;28	P09471;P09471-2	GNAO_HUMAN;.	M	28	ENSP00000262493:I28M;ENSP00000262494:I28M	ENSP00000262493:I28M	I	+	3	3	GNAO1	54783732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.630000	0.37081	0.933000	0.37291	0.455000	0.32223	ATC		0.637	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		29	37	0	0	0	1	0	29	37				
PYGB	5834	broad.mit.edu	37	20	25261592	25261592	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr20:25261592C>G	ENST00000216962.4	+	11	1357	c.1247C>G	c.(1246-1248)gCc>gGc	p.A416G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	416					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CAGCACGTGGCCGCGCTGTTT	0.647																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1246-1248)gCc>gGc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						120.0	107.0	112.0					20																	25261592		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25261592C>G		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1247C>G	20.37:g.25261592C>G	ENSP00000216962:p.Ala416Gly						p.A416G	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			11	1357	+			416					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1247C>G	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740889	0.30865	.	.	ENSG00000100994	ENST00000216962	D	0.92149	-2.98	4.02	4.02	0.46733	.	0.160037	0.56097	D	0.000032	D	0.90324	0.6973	M	0.66939	2.045	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	D	0.87474	0.2416	10	0.27785	T	0.31	-14.8536	16.2933	0.82760	0.0:1.0:0.0:0.0	.	416	P11216	PYGB_HUMAN	G	416	ENSP00000216962:A416G	ENSP00000216962:A416G	A	+	2	0	PYGB	25209592	1.000000	0.71417	0.932000	0.37286	0.016000	0.09150	4.669000	0.61575	2.231000	0.72958	0.462000	0.41574	GCC		0.647	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		23	151	0	0	0	1	0	23	151				
OVGP1	5016	broad.mit.edu	37	1	111966210	111966210	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:111966210T>A	ENST00000369732.3	-	5	493	c.438A>T	c.(436-438)agA>agT	p.R146S	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Missense_Mutation_p.R86S	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	146					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGGGCTGCCTCTTAGTCCAG	0.403																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(436-438)agA>agT		oviductal glycoprotein 1, 120kDa							86.0	81.0	83.0					1																	111966210		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111966210T>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.438A>T	1.37:g.111966210T>A	ENSP00000358747:p.Arg146Ser					OVGP1_ENST00000540696.1_Missense_Mutation_p.R86S	p.R146S	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	493	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	146					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.438A>T	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247162	0.59103	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.05319	3.46;3.46	4.54	2.27	0.28462	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	M	0.70108	2.13	0.36196	D	0.850436	P;P;D	0.89917	0.813;0.706;1.0	P;P;D	0.87578	0.782;0.782;0.998	T	0.02047	-1.1223	10	0.87932	D	0	-14.7452	5.5518	0.17095	0.0:0.2191:0.0:0.7809	.	146;146;210	B2RA77;Q12889;Q59HH5	.;OVGP1_HUMAN;.	S	146;210;86	ENSP00000358747:R146S;ENSP00000438449:R86S	ENSP00000358743:R210S	R	-	3	2	OVGP1	111767733	0.991000	0.36638	0.978000	0.43139	0.362000	0.29581	0.121000	0.15667	0.872000	0.35775	0.482000	0.46254	AGA		0.403	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		17	49	0	0	0	1	0	17	49				
MTTP	4547	broad.mit.edu	37	4	100532549	100532549	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:100532549T>C	ENST00000265517.5	+	14	2131	c.1928T>C	c.(1927-1929)cTa>cCa	p.L643P	MTTP_ENST00000457717.1_Missense_Mutation_p.L643P|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L670P			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	643	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCTGGCATTCTAAGGAGAAGT	0.433																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(1927-1929)cTa>cCa		microsomal triglyceride transfer protein	Hesperetin(DB01094)						192.0	179.0	184.0					4																	100532549		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532549T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1928T>C	4.37:g.100532549T>C	ENSP00000265517:p.Leu643Pro					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L643P|MTTP_ENST00000511045.1_Missense_Mutation_p.L670P	p.L643P	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	15	2184	+			643			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1928T>C	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728358	0.69074	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.78126	-1.15;-1.13;-1.13	5.62	5.62	0.85841	Lipid transport protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.69307	0.942;0.963	D	0.88999	0.3420	10	0.66056	D	0.02	-8.4283	15.8181	0.78621	0.0:0.0:0.0:1.0	.	670;643	E9PBP6;P55157	.;MTP_HUMAN	P	670;643;643	ENSP00000427679:L670P;ENSP00000400821:L643P;ENSP00000265517:L643P	ENSP00000265517:L643P	L	+	2	0	MTTP	100751572	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.363000	0.79516	2.139000	0.66308	0.533000	0.62120	CTA		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			7	156	0	0	0	1	0	7	156				
ACSM1	116285	broad.mit.edu	37	16	20648161	20648161	+	Splice_Site	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20648161A>G	ENST00000307493.4	-	9	1266	c.1199T>C	c.(1198-1200)gTc>gCc	p.V400A	ACSM1_ENST00000219151.4_Missense_Mutation_p.V51A|ACSM1_ENST00000520010.1_Splice_Site_p.V400A	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	400					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATCAATGACCTGTAGCAA	0.527																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(151-153)gTc>gCc		acyl-CoA synthetase medium-chain family member 1							158.0	111.0	127.0					16																	20648161		2201	4300	6501	SO:0001630	splice_region_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20648161A>G	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1198-1T>C	16.37:g.20648161A>G						ACSM1_ENST00000307493.4_Splice_Site_p.V400_splice|ACSM1_ENST00000520010.1_Splice_Site_p.V400_splice	p.V51A			Q08AH1	ACSM1_HUMAN			10	1362	-			400					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.152T>C	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	a	11.84	1.758120	0.31137	.	.	ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010	T;T;T	0.53640	0.61;0.61;0.61	4.59	4.59	0.56863	AMP-dependent synthetase/ligase (1);	0.384517	0.22119	N	0.064371	T	0.46908	0.1417	L	0.46947	1.48	0.29139	N	0.879166	B	0.33000	0.393	B	0.40256	0.324	T	0.54118	-0.8341	10	0.87932	D	0	.	11.8655	0.52490	1.0:0.0:0.0:0.0	.	400	Q08AH1	ACSM1_HUMAN	A	400;51;400	ENSP00000301956:V400A;ENSP00000219151:V51A;ENSP00000428047:V400A	ENSP00000219151:V51A	V	-	2	0	ACSM1	20555662	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	4.500000	0.60387	2.056000	0.61249	0.416000	0.27883	GTC		0.527	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	Missense_Mutation	22	45	0	0	0	1	0	22	45				
KIF22	3835	broad.mit.edu	37	16	29808401	29808401	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:29808401C>T	ENST00000160827.4	+	2	298	c.258C>T	c.(256-258)ctC>ctT	p.L86L	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Silent_p.L18L|KIF22_ENST00000400751.5_Silent_p.L18L|KIF22_ENST00000569382.2_Silent_p.L18L	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	86	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGAGACTCTCAAATACCAGT	0.587																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(52-54)ctC>ctT		kinesin family member 22							86.0	81.0	82.0					16																	29808401		2197	4296	6493	SO:0001819	synonymous_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29808401C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.258C>T	16.37:g.29808401C>T						KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.L18L|KIF22_ENST00000569382.2_Silent_p.L18L|KIF22_ENST00000160827.4_Silent_p.L86L	p.L18L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			2	691	+			86					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP	ENST00000160827.4	37	c.54C>T	CCDS10653.1																																																																																				0.587	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			4	110	0	0	0	1	0	4	110				
ICAM5	7087	broad.mit.edu	37	19	10402433	10402433	+	Silent	SNP	C	C	T	rs566775151		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:10402433C>T	ENST00000221980.4	+	3	684	c.621C>T	c.(619-621)caC>caT	p.H207H	CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	207	Ig-like C2-type 2.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCGGCCGCACGGACTGGGAC	0.672																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(619-621)caC>caT		intercellular adhesion molecule 5, telencephalin							21.0	26.0	24.0					19																	10402433		2162	4241	6403	SO:0001819	synonymous_variant	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402433C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.621C>T	19.37:g.10402433C>T							p.H207H	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		3	684	+			207			Ig-like C2-type 2.		Q9Y6F3	Silent	SNP	ENST00000221980.4	37	c.621C>T	CCDS12233.1																																																																																				0.672	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		3	64	0	0	0	1	0	3	64				
IFIT5	24138	broad.mit.edu	37	10	91178137	91178137	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:91178137A>G	ENST00000371795.4	+	2	1394	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	IFIT5_ENST00000416601.1_Missense_Mutation_p.N346S	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	394					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AAATCAGAAAATACTGCCATC	0.423																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(1180-1182)aAt>aGt		interferon-induced protein with tetratricopeptide repeats 5							79.0	73.0	75.0					10																	91178137		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91178137A>G	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1181A>G	10.37:g.91178137A>G	ENSP00000360860:p.Asn394Ser					IFIT5_ENST00000416601.1_Missense_Mutation_p.N346S	p.N394S	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1394	+			394					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.1181A>G	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	A	6.086	0.384121	0.11524	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.59083	0.29;0.29	6.17	-1.9	0.07665	Tetratricopeptide-like helical (1);	0.769568	0.12356	N	0.476095	T	0.26159	0.0638	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16571	-1.0398	10	0.34782	T	0.22	-2.2474	7.2985	0.26408	0.463:0.1704:0.3666:0.0	.	394;346	Q13325;B4DDV1	IFIT5_HUMAN;.	S	394;346	ENSP00000360860:N394S;ENSP00000414042:N346S	ENSP00000360860:N394S	N	+	2	0	IFIT5	91168117	0.002000	0.14202	0.001000	0.08648	0.997000	0.91878	0.297000	0.19101	-0.238000	0.09724	0.533000	0.62120	AAT		0.423	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		3	53	0	0	0	1	0	3	53				
SLC39A13	91252	broad.mit.edu	37	11	47434972	47434972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr11:47434972G>A	ENST00000362021.4	+	5	601	c.559G>A	c.(559-561)Gct>Act	p.A187T	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A187T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000524928.1_Missense_Mutation_p.A187T	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	187	Poly-Ala.				cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGACCCCACTGCTGCTGCCGC	0.657																																						ENST00000524928.1																			0				breast(1)|kidney(1)|lung(1)|prostate(1)	4						c.(559-561)Gct>Act		solute carrier family 39 (zinc transporter), member 13							32.0	34.0	33.0					11																	47434972		2201	4298	6499	SO:0001583	missense	91252				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr11:47434972G>A		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.559G>A	11.37:g.47434972G>A	ENSP00000354689:p.Ala187Thr					SLC39A13_ENST00000362021.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A187T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000529740.1_3'UTR	p.A187T			Q96H72	S39AD_HUMAN		Lung(87;0.0936)	4	569	+			187			Poly-Ala.		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	ENST00000362021.4	37	c.559G>A	CCDS44592.1	.	.	.	.	.	.	.	.	.	.	G	7.442	0.640993	0.14386	.	.	ENSG00000165915	ENST00000533076;ENST00000362021;ENST00000354884;ENST00000526614;ENST00000524928	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	3.32	1.29	0.21616	.	0.802697	0.12200	N	0.490387	T	0.43077	0.1231	N	0.16130	0.375	0.09310	N	1	P;B;D	0.69078	0.625;0.244;0.997	B;B;D	0.83275	0.258;0.043;0.996	T	0.30357	-0.9981	10	0.17369	T	0.5	.	4.9636	0.14080	0.3174:0.0:0.6826:0.0	.	187;187;187	Q96H72;Q96H72-2;E9PNE7	S39AD_HUMAN;.;.	T	187	ENSP00000434290:A187T;ENSP00000354689:A187T;ENSP00000346956:A187T;ENSP00000432499:A187T;ENSP00000437186:A187T	ENSP00000346956:A187T	A	+	1	0	SLC39A13	47391548	0.011000	0.17503	0.685000	0.30070	0.628000	0.37860	-0.470000	0.06639	0.190000	0.20209	-0.391000	0.06502	GCT		0.657	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395652.1	NM_152264		13	31	0	0	0	1	0	13	31				
DNAH3	55567	broad.mit.edu	37	16	20990739	20990739	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20990739C>T	ENST00000261383.3	-	50	7988	c.7989G>A	c.(7987-7989)acG>acA	p.T2663T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2663	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATTCAGGAGCGTCTTGAAGG	0.478																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(7987-7989)acG>acA		dynein, axonemal, heavy chain 3							152.0	138.0	143.0					16																	20990739		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990739C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7989G>A	16.37:g.20990739C>T						DNAH3_ENST00000415178.1_3'UTR	p.T2663T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	7988	-			2663			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7989G>A	CCDS10594.1																																																																																				0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		6	87	0	0	0	1	0	6	87				
HCG17	414778	broad.mit.edu	37	6	30231249	30231249	+	lincRNA	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:30231249G>A	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		TATTTCCAGGGCTCTTTCTTG	0.423																																						ENST00000453558.1																			0																				44.0	47.0	46.0					6																	30231249		2203	4300	6503			0							g.chr6:30231249G>A	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30231249G>A						HLA-L_ENST00000463348.1_RNA								0	126	-									RNA	SNP	ENST00000453558.1	37																																																																																						0.423	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		3	34	0	0	0	1	0	3	34				
DISP2	85455	broad.mit.edu	37	15	40661464	40661464	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:40661464C>T	ENST00000267889.3	+	8	3238	c.3151C>T	c.(3151-3153)Cgt>Tgt	p.R1051C	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1051					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCGCCTGAGCCGTGTGGCCTT	0.632																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3151-3153)Cgt>Tgt		dispatched homolog 2 (Drosophila)							94.0	93.0	93.0					15																	40661464		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661464C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3151C>T	15.37:g.40661464C>T	ENSP00000267889:p.Arg1051Cys					RP11-64K12.4_ENST00000558421.1_RNA	p.R1051C	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3238	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1051					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.3151C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286442	0.59867	.	.	ENSG00000140323	ENST00000267889	D	0.92299	-3.01	4.88	4.88	0.63580	.	0.053137	0.64402	D	0.000001	D	0.95121	0.8419	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95111	0.8238	10	0.66056	D	0.02	-16.3689	13.2239	0.59905	0.1589:0.8411:0.0:0.0	.	1051	A7MBM2	DISP2_HUMAN	C	1051	ENSP00000267889:R1051C	ENSP00000267889:R1051C	R	+	1	0	DISP2	38448756	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.818000	0.62657	2.527000	0.85204	0.511000	0.50034	CGT		0.632	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		5	167	0	0	0	1	0	5	167				
DOPEY1	23033	broad.mit.edu	37	6	83863326	83863326	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:83863326C>G	ENST00000349129.2	+	31	6486	c.6226C>G	c.(6226-6228)Ctc>Gtc	p.L2076V	DOPEY1_ENST00000237163.5_Missense_Mutation_p.L2006V|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L2067V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2076					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGCCCTACCTCAGAAATCA	0.313																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6226-6228)Ctc>Gtc		dopey family member 1							137.0	136.0	136.0					6																	83863326		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83863326C>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6226C>G	6.37:g.83863326C>G	ENSP00000195654:p.Leu2076Val					DOPEY1_ENST00000369739.3_Missense_Mutation_p.L2067V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L2006V|DOPEY1_ENST00000484282.1_3'UTR	p.L2076V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	31	6486	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2076					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6226C>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586765	0.66105	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.42900	0.96;1.19	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.75447	2.3	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.74674	0.984;0.978;0.984	T	0.57551	-0.7792	10	0.59425	D	0.04	.	12.2105	0.54377	0.0:0.9226:0.0:0.0774	.	1967;2067;2076	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	2076;2006;2006	ENSP00000195654:L2076V;ENSP00000237163:L2006V	ENSP00000237163:L2006V	L	+	1	0	DOPEY1	83920045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.434000	0.59935	2.688000	0.91661	0.650000	0.86243	CTC		0.313	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		6	62	0	0	0	1	0	6	62				
VAV1	7409	broad.mit.edu	37	19	6828446	6828446	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:6828446C>T	ENST00000602142.1	+	11	1122	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	VAV1_ENST00000596764.1_Missense_Mutation_p.T315M|VAV1_ENST00000539284.1_Missense_Mutation_p.T250M|VAV1_ENST00000304076.2_Missense_Mutation_p.T347M|VAV1_ENST00000599806.1_Missense_Mutation_p.T292M	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	347	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T347M(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAAACACACGCAGGAGGCG	0.622																																						ENST00000304076.2																			1	Substitution - Missense(1)	p.T347M(1)	large_intestine(1)	biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1039-1041)aCg>aTg		vav 1 guanine nucleotide exchange factor							65.0	66.0	65.0					19																	6828446		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828446C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1040C>T	19.37:g.6828446C>T	ENSP00000472929:p.Thr347Met					VAV1_ENST00000599806.1_Missense_Mutation_p.T292M|VAV1_ENST00000596764.1_Missense_Mutation_p.T315M|VAV1_ENST00000602142.1_Missense_Mutation_p.T347M|VAV1_ENST00000539284.1_Missense_Mutation_p.T250M	p.T347M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			11	1134	+			347			DH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1040C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273812	0.80580	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.72394	-0.65;-0.65	4.7	4.7	0.59300	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.78314	0.847;0.957;0.985;0.991	D	0.89867	0.4020	10	0.72032	D	0.01	.	15.4995	0.75684	0.0:1.0:0.0:0.0	.	250;347;292;347	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	M	347;250	ENSP00000302269:T347M;ENSP00000443242:T250M	ENSP00000302269:T347M	T	+	2	0	VAV1	6779446	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	5.090000	0.64498	2.337000	0.79520	0.467000	0.42956	ACG		0.622	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			5	56	0	0	0	1	0	5	56				
NF2	4771	broad.mit.edu	37	22	30077486	30077486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr22:30077486G>A	ENST00000338641.4	+	15	2074	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	NF2_ENST00000403435.1_Missense_Mutation_p.E516K|NF2_ENST00000334961.7_Missense_Mutation_p.E462K|NF2_ENST00000397789.3_Missense_Mutation_p.E545K|NF2_ENST00000361452.4_Missense_Mutation_p.E504K|NF2_ENST00000403999.3_Missense_Mutation_p.E545K|NF2_ENST00000361166.4_Missense_Mutation_p.E545K|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.E462K|NF2_ENST00000361676.4_Missense_Mutation_p.E503K|NF2_ENST00000347330.5_3'UTR	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	545					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACTCAAGACAGAAATCGAGGC	0.498			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		4	Unknown(3)|Deletion - Frameshift(1)	p.?(3)|p.K525fs*18(1)	large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776	GRCh37	CD984140	NF2	D		c.(1633-1635)Gaa>Aaa		neurofibromin 2 (merlin)							122.0	122.0	122.0					22																	30077486		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30077486G>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1633G>A	22.37:g.30077486G>A	ENSP00000344666:p.Glu545Lys					NF2_ENST00000397789.3_Missense_Mutation_p.E545K|NF2_ENST00000361676.4_Missense_Mutation_p.E503K|NF2_ENST00000403999.3_Missense_Mutation_p.E545K|NF2_ENST00000353887.4_Missense_Mutation_p.E462K|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361166.4_Missense_Mutation_p.E545K|NF2_ENST00000334961.7_Missense_Mutation_p.E462K|NF2_ENST00000361452.4_Missense_Mutation_p.E504K|NF2_ENST00000403435.1_Missense_Mutation_p.E516K	p.E545K	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			15	2074	+			545					O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.1633G>A	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	36	5.820748	0.96989	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	6.03	6.03	0.97812	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.997;0.999;1.0;0.999;0.999;0.999;0.999	D	0.93943	0.7225	9	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	520;516;504;545;545;503;462;545	B7Z4B6;P35240-8;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;.;MERL_HUMAN;.;.;.;.	K	545;516;504;520;545;462;462;545;503;545	ENSP00000344666:E545K;ENSP00000384029:E516K;ENSP00000354897:E504K;ENSP00000384797:E545K;ENSP00000335652:E462K;ENSP00000340626:E462K;ENSP00000380891:E545K;ENSP00000355183:E503K;ENSP00000354529:E545K	.	E	+	1	0	NF2	28407486	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	9.824000	0.99380	2.854000	0.98071	0.655000	0.94253	GAA		0.498	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		5	134	0	0	0	1	0	5	134				
MDM2	4193	broad.mit.edu	37	12	69229630	69229630	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:69229630G>C	ENST00000350057.5	+	7	613	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.E35Q|MDM2_ENST00000356290.4_Missense_Mutation_p.E60Q|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E175Q|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.E236Q|MDM2_ENST00000540827.1_Missense_Mutation_p.E35Q|MDM2_ENST00000258148.7_Missense_Mutation_p.E181Q|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.E30Q|MDM2_ENST00000360430.2_Missense_Mutation_p.E35Q|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.E60Q			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	230	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGGTGTAAGTGAACATTCAGG	0.363			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(706-708)Gaa>Caa		MDM2 oncogene, E3 ubiquitin protein ligase							199.0	185.0	190.0					12																	69229630		1853	4109	5962	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69229630G>C		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.613G>C	12.37:g.69229630G>C	ENSP00000266624:p.Glu205Gln					MDM2_ENST00000545204.1_Intron|MDM2_ENST00000428863.2_Missense_Mutation_p.E35Q|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.E30Q|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.E35Q|MDM2_ENST00000360430.2_Missense_Mutation_p.E35Q|MDM2_ENST00000356290.4_Missense_Mutation_p.E60Q|MDM2_ENST00000350057.5_Missense_Mutation_p.E205Q|MDM2_ENST00000299252.4_Missense_Mutation_p.E60Q|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.E181Q|MDM2_ENST00000258149.5_Missense_Mutation_p.E175Q|MDM2_ENST00000517852.1_Intron	p.E236Q	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1008	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		230			ARF-binding.|Interaction with MTBP (By similarity).		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.706G>C		.	.	.	.	.	.	.	.	.	.	G	26.2	4.712350	0.89112	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000543323;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430;ENST00000348801	T;T;T;T;T;T;T;T;T;T;T	0.50548	1.39;0.8;0.85;0.87;0.81;0.8;0.74;1.4;0.85;0.87;0.8	4.92	4.92	0.64577	.	0.302477	0.39615	N	0.001303	T	0.58061	0.2096	L	0.47716	1.5	0.80722	D	1	B;P;P;D;P;P	0.56521	0.343;0.893;0.933;0.976;0.893;0.907	B;P;P;P;B;P	0.58660	0.245;0.624;0.623;0.843;0.44;0.557	T	0.55134	-0.8188	9	.	.	.	-3.5756	17.511	0.87760	0.0:0.0:1.0:0.0	.	185;35;60;181;35;236	Q00987-9;Q00987-3;Q00987-5;G3XA89;Q00987-2;Q00987-11	.;.;.;.;.;.	Q	236;185;175;60;35;35;60;191;181;230;60;60;205;60;35;30	ENSP00000417281:E236Q;ENSP00000258149:E175Q;ENSP00000348637:E60Q;ENSP00000440932:E35Q;ENSP00000410694:E35Q;ENSP00000258148:E181Q;ENSP00000444430:E230Q;ENSP00000266624:E205Q;ENSP00000299252:E60Q;ENSP00000353611:E35Q;ENSP00000335096:E30Q	.	E	+	1	0	MDM2	67515897	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.908000	0.63307	2.443000	0.82685	0.460000	0.39030	GAA		0.363	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		4	112	0	0	0	1	0	4	112				
NOA1	84273	broad.mit.edu	37	4	57834617	57834617	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:57834617C>G	ENST00000264230.4	-	4	2817	c.1580G>C	c.(1579-1581)aGa>aCa	p.R527T		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	527					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CACAAAAGTTCTTGGAACAAT	0.328																																						ENST00000264230.4																			0											c.(1579-1581)aGa>aCa		nitric oxide associated 1							69.0	73.0	72.0					4																	57834617		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57834617C>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1580G>C	4.37:g.57834617C>G	ENSP00000264230:p.Arg527Thr						p.R527T	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			4	2817	-			527					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1580G>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869117	0.91587	.	.	ENSG00000084092	ENST00000264230	T	0.38077	1.16	5.93	5.93	0.95920	.	0.118601	0.64402	D	0.000012	T	0.62696	0.2449	M	0.76574	2.34	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.63404	-0.6645	10	0.72032	D	0.01	.	19.9467	0.97184	0.0:1.0:0.0:0.0	.	527	Q8NC60	CD014_HUMAN	T	527	ENSP00000264230:R527T	ENSP00000264230:R527T	R	-	2	0	C4orf14	57529374	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.027000	0.76463	2.814000	0.96858	0.563000	0.77884	AGA		0.328	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		4	69	0	0	0	1	0	4	69				
HYAL2	8692	broad.mit.edu	37	3	50357532	50357532	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr3:50357532G>A	ENST00000447092.1	-	1	2681	c.389C>T	c.(388-390)gCg>gTg	p.A130V	HYAL2_ENST00000442581.1_Missense_Mutation_p.A130V|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.A130V|HYAL2_ENST00000395139.3_Missense_Mutation_p.A130V			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	130					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTCGATGACCGCCAGCCCCGC	0.592																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(388-390)gCg>gTg		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						84.0	80.0	82.0					3																	50357532		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50357532G>A	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.389C>T	3.37:g.50357532G>A	ENSP00000401853:p.Ala130Val					HYAL2_ENST00000442581.1_Missense_Mutation_p.A130V|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.A130V|HYAL2_ENST00000395139.3_Missense_Mutation_p.A130V	p.A130V			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	2681	-			130					B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.389C>T	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632826	0.67015	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.81	5.81	0.92471	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.094804	0.64402	D	0.000001	T	0.61800	0.2376	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.79784	0.993;0.937	T	0.59584	-0.7427	10	0.44086	T	0.13	-21.7116	14.293	0.66292	0.0:0.1487:0.8513:0.0	.	130;130	B3KRZ2;Q12891	.;HYAL2_HUMAN	V	130	ENSP00000401853:A130V;ENSP00000350387:A130V;ENSP00000378571:A130V;ENSP00000406657:A130V	ENSP00000350387:A130V	A	-	2	0	HYAL2	50332536	1.000000	0.71417	0.968000	0.41197	0.031000	0.12232	9.768000	0.98965	2.752000	0.94435	0.557000	0.71058	GCG		0.592	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		4	130	0	0	0	1	0	4	130				
PPP1CB	5500	broad.mit.edu	37	2	29016792	29016792	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:29016792A>T	ENST00000395366.2	+	7	1080	c.808A>T	c.(808-810)Aat>Tat	p.N270Y	PPP1CB_ENST00000358506.2_Missense_Mutation_p.N270Y|PPP1CB_ENST00000296122.6_Missense_Mutation_p.N270Y|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	270					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCCCAAATTACTGTGG	0.348																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(808-810)Aat>Tat		protein phosphatase 1, catalytic subunit, beta isozyme							147.0	135.0	139.0					2																	29016792		2203	4300	6503	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29016792A>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.808A>T	2.37:g.29016792A>T	ENSP00000378769:p.Asn270Tyr					PPP1CB_ENST00000358506.2_Missense_Mutation_p.N270Y|PPP1CB_ENST00000296122.6_Missense_Mutation_p.N270Y|SPDYA_ENST00000462832.1_3'UTR	p.N270Y	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN			7	1080	+	Acute lymphoblastic leukemia(172;0.155)		270					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.808A>T	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711724	0.89112	.	.	ENSG00000213639	ENST00000358506;ENST00000296122;ENST00000395366	D;D;D	0.81739	-1.53;-1.53;-1.53	5.31	5.31	0.75309	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.040601	0.85682	D	0.000000	D	0.91408	0.7289	H	0.96430	3.82	0.80722	D	1	P	0.51653	0.947	P	0.56088	0.791	D	0.94056	0.7322	10	0.87932	D	0	-17.8983	15.5562	0.76196	1.0:0.0:0.0:0.0	.	270	P62140	PP1B_HUMAN	Y	270	ENSP00000351298:N270Y;ENSP00000296122:N270Y;ENSP00000378769:N270Y	ENSP00000296122:N270Y	N	+	1	0	PPP1CB	28870296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.139000	0.66308	0.477000	0.44152	AAT		0.348	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			14	39	0	0	0	1	0	14	39				
UGT2B11	10720	broad.mit.edu	37	4	70080096	70080096	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:70080096G>A	ENST00000446444.1	-	1	353	c.345C>T	c.(343-345)atC>atT	p.I115I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	115					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(343-345)atC>atT		UDP glucuronosyltransferase 2 family, polypeptide B11							30.0	36.0	34.0					4																	70080096		2144	4269	6413	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080096G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.345C>T	4.37:g.70080096G>A						RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.I115I	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	353	-			115					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.345C>T	CCDS3527.1																																																																																				0.299	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	22	0	0	0	1	0	7	22				
TFCP2	7024	broad.mit.edu	37	12	51497961	51497961	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:51497961C>G	ENST00000257915.5	-	9	1401	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	TFCP2_ENST00000548115.1_Missense_Mutation_p.E264Q|TFCP2_ENST00000307660.4_Missense_Mutation_p.E264Q|TFCP2_ENST00000549867.1_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	315	DNA-binding.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGGGTGGCTCTGGCTGGTGG	0.418																																						ENST00000307660.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(790-792)Gag>Cag		transcription factor CP2							127.0	121.0	123.0					12																	51497961		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51497961C>G	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.943G>C	12.37:g.51497961C>G	ENSP00000257915:p.Glu315Gln					TFCP2_ENST00000257915.5_Missense_Mutation_p.E315Q|TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Missense_Mutation_p.E264Q	p.E264Q	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN			8	1510	-			315			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.790G>C	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296129	0.81025	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.48201	2.17;0.82;0.82;2.15	4.46	4.46	0.54185	Sterile alpha motif/pointed domain (1);	0.049758	0.85682	D	0.000000	T	0.56877	0.2015	L	0.45698	1.435	0.80722	D	1	D;D;B	0.58620	0.983;0.977;0.185	P;P;B	0.59825	0.674;0.864;0.281	T	0.47623	-0.9103	10	0.23891	T	0.37	-21.5726	17.075	0.86584	0.0:1.0:0.0:0.0	.	264;315;315	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	Q	315;264;264;217	ENSP00000257915:E315Q;ENSP00000304411:E264Q;ENSP00000447991:E264Q;ENSP00000449280:E217Q	ENSP00000257915:E315Q	E	-	1	0	TFCP2	49784228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.971000	0.76105	2.754000	0.94517	0.655000	0.94253	GAG		0.418	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		6	135	0	0	0	1	0	6	135				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		3	102	0	0	0	1	0	3	102				
PCMT1	5110	broad.mit.edu	37	6	150111138	150111138	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:150111138A>G	ENST00000367380.5	+	4	448	c.241A>G	c.(241-243)Aaa>Gaa	p.K81E	PCMT1_ENST00000544496.1_Missense_Mutation_p.K46E|PCMT1_ENST00000367384.2_Missense_Mutation_p.K139E|PCMT1_ENST00000367378.1_Missense_Mutation_p.K139E|PCMT1_ENST00000464889.1_Missense_Mutation_p.K139E	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	81					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGAAGGAGCTAAAGCTCTTGA	0.378																																						ENST00000464889.1																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(415-417)Aaa>Gaa		protein-L-isoaspartate (D-aspartate) O-methyltransferase							151.0	147.0	148.0					6																	150111138		2203	4300	6503	SO:0001583	missense	5110							g.chr6:150111138A>G		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.241A>G	6.37:g.150111138A>G	ENSP00000356350:p.Lys81Glu					PCMT1_ENST00000544496.1_Missense_Mutation_p.K46E|PCMT1_ENST00000367378.1_Missense_Mutation_p.K139E|PCMT1_ENST00000367384.2_Missense_Mutation_p.K139E|PCMT1_ENST00000367380.5_Missense_Mutation_p.K81E	p.K139E					BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)	4	699	+		Ovarian(120;0.0907)						A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37	c.415A>G		.	.	.	.	.	.	.	.	.	.	A	27.6	4.847460	0.91277	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496;ENST00000495487	T;T;T;T;T;T	0.48836	0.83;0.83;0.83;0.83;0.8;1.87	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.89287	3.02	0.80722	D	1	P;P;P	0.46912	0.738;0.886;0.808	P;P;P	0.52031	0.574;0.688;0.623	T	0.69785	-0.5051	10	0.72032	D	0.01	-15.3229	16.5724	0.84622	1.0:0.0:0.0:0.0	.	46;81;81	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	E	139;139;139;81;46;50	ENSP00000356354:K139E;ENSP00000356348:K139E;ENSP00000420813:K139E;ENSP00000356350:K81E;ENSP00000438247:K46E;ENSP00000418881:K50E	ENSP00000356348:K139E	K	+	1	0	PCMT1	150152831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.812000	0.69194	2.313000	0.78055	0.455000	0.32223	AAA		0.378	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				40	73	0	0	0	1	0	40	73				
PGLYRP4	57115	broad.mit.edu	37	1	153315567	153315567	+	Splice_Site	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:153315567T>C	ENST00000359650.5	-	5	535	c.471A>G	c.(469-471)aaA>aaG	p.K157K	PGLYRP4_ENST00000368739.3_Splice_Site_p.K153K|PGLYRP4_ENST00000490266.1_5'Flank	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	157					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTTACCTTTCTTAGTGC	0.478																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e5+1		peptidoglycan recognition protein 4							149.0	119.0	129.0					1																	153315567		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153315567T>C	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.472+1A>G	1.37:g.153315567T>C						PGLYRP4_ENST00000359650.5_Splice_Site_p.K157_splice	p.K153_splice			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	817	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		157					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.460_splice	CCDS30871.1																																																																																				0.478	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Silent	19	25	0	0	0	1	0	19	25				
ABHD16A	7920	broad.mit.edu	37	6	31668779	31668779	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:31668779G>A	ENST00000395952.3	-	4	445	c.283C>T	c.(283-285)Ccg>Tcg	p.P95S	ABHD16A_ENST00000538874.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P62S|ABHD16A_ENST00000375842.4_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	95						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGAGAAAACGGCACCACTTTG	0.537																																						ENST00000395952.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(283-285)Ccg>Tcg		abhydrolase domain containing 16A							104.0	90.0	95.0					6																	31668779		2203	4300	6503	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31668779G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.283C>T	6.37:g.31668779G>A	ENSP00000379282:p.Pro95Ser					ABHD16A_ENST00000440843.2_Missense_Mutation_p.P62S|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR	p.P95S	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN			4	445	-			95					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.283C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899828	0.52227	.	.	ENSG00000204427	ENST00000395952;ENST00000440843	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	L	0.46157	1.445	0.80722	D	1	D;P	0.89917	1.0;0.793	D;B	0.83275	0.996;0.272	T	0.52675	-0.8544	9	0.16420	T	0.52	-17.6992	16.904	0.86120	0.0:0.0:1.0:0.0	.	62;95	B7Z4R6;O95870	.;ABHGA_HUMAN	S	95;62	.	ENSP00000379282:P95S	P	-	1	0	ABHD16A	31776758	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.773000	0.68898	2.664000	0.90586	0.491000	0.48974	CCG		0.537	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			12	61	0	0	0	1	0	12	61				
GABRA6	2559	broad.mit.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:161128598C>T	ENST00000274545.5	+	9	1614	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_ENST00000523217.1_Missense_Mutation_p.A384V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	394					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1150-1152)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111.0	106.0	108.0					5																	161128598		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128598C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1181C>T	5.37:g.161128598C>T	ENSP00000274545:p.Ala394Val	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.A394V	p.A384V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1393	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	394					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1151C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058849	0.01950	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.203	0.13204	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.119710	0.06693	N	0.770002	T	0.62744	0.2453	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47182	-0.9137	10	0.30078	T	0.28	.	2.5722	0.04798	0.3645:0.3806:0.1184:0.1366	.	394	Q16445	GBRA6_HUMAN	V	394;384	ENSP00000274545:A394V;ENSP00000430527:A384V	ENSP00000274545:A394V	A	+	2	0	GABRA6	161061176	0.001000	0.12720	0.026000	0.17262	0.022000	0.10575	-0.310000	0.08135	-0.032000	0.13758	0.655000	0.94253	GCG		0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			16	55	0	0	0	1	0	16	55				
CEP68	23177	broad.mit.edu	37	2	65296821	65296821	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296821A>G	ENST00000377990.2	+	2	446	c.243A>G	c.(241-243)ccA>ccG	p.P81P	CEP68_ENST00000537589.1_Intron|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000546106.1_Silent_p.P81P|CEP68_ENST00000260569.4_Silent_p.P81P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCCACCAGCCACAGGCCAGTG	0.632																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(241-243)ccA>ccG		centrosomal protein 68kDa							37.0	42.0	40.0					2																	65296821		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65296821A>G	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.243A>G	2.37:g.65296821A>G						CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Silent_p.P81P|CEP68_ENST00000546106.1_Silent_p.P81P	p.P81P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			2	446	+			81					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.243A>G	CCDS1880.2																																																																																				0.632	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		10	53	0	0	0	1	0	10	53				
SEMA6A	57556	broad.mit.edu	37	5	115803413	115803413	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:115803413G>C	ENST00000343348.6	-	18	2547	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S	SEMA6A_ENST00000513137.1_Missense_Mutation_p.T14S|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T587S|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T604S|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	587					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCTGATGTGGTTGTGCTGGG	0.522																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1759-1761)aCc>aGc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							103.0	100.0	101.0					5																	115803413		1994	4160	6154	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115803413G>C	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1760C>G	5.37:g.115803413G>C	ENSP00000345512:p.Thr587Ser					SEMA6A_ENST00000257414.8_Missense_Mutation_p.T604S|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T587S|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T14S|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Intron	p.T587S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	18	2547	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	587					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.1760C>G	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694075	0.30052	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000510263	T;T;T;T	0.48836	2.32;2.33;0.8;2.32	5.95	5.95	0.96441	.	1.353370	0.04754	N	0.425100	T	0.58963	0.2159	N	0.19112	0.55	0.80722	D	1	B;B;B;D	0.67145	0.001;0.004;0.0;0.996	B;B;B;D	0.70935	0.001;0.004;0.001;0.971	T	0.54146	-0.8337	10	0.09590	T	0.72	.	19.9975	0.97389	0.0:0.0:1.0:0.0	.	587;131;604;14	Q9H2E6;Q96SM8;Q9H2E6-2;B3KU01	SEM6A_HUMAN;.;.;.	S	587;604;14;587	ENSP00000345512:T587S;ENSP00000257414:T604S;ENSP00000422997:T14S;ENSP00000424388:T587S	ENSP00000257414:T604S	T	-	2	0	SEMA6A	115831312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.072000	0.64389	2.827000	0.97445	0.650000	0.86243	ACC		0.522	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		13	26	0	0	0	1	0	13	26				
CGB7	94027	broad.mit.edu	37	19	49557632	49557632	+	Silent	SNP	G	G	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:49557632G>T	ENST00000597853.1	-	5	3285	c.414C>A	c.(412-414)tcC>tcA	p.S138S	CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000356213.4_Silent_p.S136S|CGB7_ENST00000377280.3_Silent_p.S138S|CGB7_ENST00000596965.1_Silent_p.S138S			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	138					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTGAGGAAGAGGAGGCCTGGA	0.637																																						ENST00000597853.1																			0				lung(3)|urinary_tract(2)	5						c.(412-414)tcC>tcA		chorionic gonadotropin, beta polypeptide 7							21.0	22.0	22.0					19																	49557632		1503	2675	4178	SO:0001819	synonymous_variant	94027							g.chr19:49557632G>T	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.414C>A	19.37:g.49557632G>T						CGB7_ENST00000377280.3_Silent_p.S138S|CGB7_ENST00000596965.1_Silent_p.S138S|CGB7_ENST00000356213.4_Silent_p.S136S	p.S138S						all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	5	3285	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Silent	SNP	ENST00000597853.1	37	c.414C>A	CCDS33071.1																																																																																				0.637	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		3	61	1	0	0.00024832	1	0.000255031	3	61				
OR2A25	392138	broad.mit.edu	37	7	143771775	143771775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:143771775G>A	ENST00000408898.2	+	1	501	c.463G>A	c.(463-465)Gcc>Acc	p.A155T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCTTATTGGCCCTTGTCCA	0.458																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(463-465)Gcc>Acc		olfactory receptor, family 2, subfamily A, member 25							156.0	159.0	158.0					7																	143771775		2176	4292	6468	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771775G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.463G>A	7.37:g.143771775G>A	ENSP00000386167:p.Ala155Thr						p.A155T	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	501	+	Melanoma(164;0.0783)		155					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.463G>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	8.473	0.858005	0.17178	.	.	ENSG00000221933	ENST00000408898	T	0.39056	1.1	4.59	0.417	0.16421	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40886	0.1135	L	0.52126	1.63	0.09310	N	1	P	0.38223	0.623	P	0.45232	0.474	T	0.36311	-0.9753	9	0.66056	D	0.02	-5.4639	6.0699	0.19883	0.091:0.0:0.4449:0.4641	.	155	A4D2G3	O2A25_HUMAN	T	155	ENSP00000386167:A155T	ENSP00000386167:A155T	A	+	1	0	OR2A25	143402708	0.000000	0.05858	0.045000	0.18777	0.000000	0.00434	-0.112000	0.10791	0.172000	0.19760	-1.359000	0.01217	GCC		0.458	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			6	138	0	0	0	1	0	6	138				
UMODL1	89766	broad.mit.edu	37	21	43519274	43519274	+	Silent	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr21:43519274G>A	ENST00000408910.2	+	7	1170	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	UMODL1_ENST00000400424.2_Silent_p.T318T|UMODL1_ENST00000400427.1_Silent_p.T318T|UMODL1_ENST00000408989.2_Silent_p.T390T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	390	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTCCACCACGCTGACCATCA	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(952-954)acG>acA		uromodulin-like 1							36.0	42.0	40.0					21																	43519274		2178	4275	6453	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519274G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1170G>A	21.37:g.43519274G>A						UMODL1_ENST00000400424.1_Silent_p.T318T|UMODL1_ENST00000408989.2_Silent_p.T390T|UMODL1_ENST00000408910.2_Silent_p.T390T	p.T318T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			7	1350	+			390			Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.954G>A	CCDS42936.1																																																																																				0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			3	64	0	0	0	1	0	3	64				
SUGCT	79783	broad.mit.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:40899974G>A	ENST00000335693.4	+	14	1257	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000309930.5_Missense_Mutation_p.G438R|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		412					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1312-1314)Ggg>Agg		chromosome 7 open reading frame 10							99.0	110.0	106.0					7																	40899974		2104	4227	6331	SO:0001583	missense	79783						transferase activity	g.chr7:40899974G>A																												ENST00000335693.4:c.1234G>A	7.37:g.40899974G>A	ENSP00000338475:p.Gly412Arg					C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R|C7orf10_ENST00000464028.1_3'UTR	p.G438R	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1336	+			412					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1312G>A	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637058	0.87760	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.96396	-4.0;-1.11;-1.11	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.275863	0.34484	N	0.003935	D	0.98689	0.9560	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.99593	1.0976	10	0.87932	D	0	-10.9205	18.9884	0.92782	0.0:0.0:1.0:0.0	.	364;412;401	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	R	438;364;412	ENSP00000312054:G438R;ENSP00000385222:G364R;ENSP00000338475:G412R	ENSP00000312054:G438R	G	+	1	0	C7orf10	40866499	1.000000	0.71417	0.988000	0.46212	0.858000	0.48976	6.455000	0.73497	2.575000	0.86900	0.655000	0.94253	GGG		0.567	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			31	140	0	0	0	1	0	31	140				
PA2G4	5036	broad.mit.edu	37	12	56501319	56501319	+	Silent	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:56501319A>G	ENST00000303305.6	+	5	827	c.408A>G	c.(406-408)acA>acG	p.T136T	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.T136T|RP11-603J24.9_ENST00000548861.1_Silent_p.T117T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	136					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAAGTAACAGGGAGGAAAG	0.453																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(406-408)acA>acG		proliferation-associated 2G4, 38kDa							122.0	121.0	121.0					12																	56501319		2203	4300	6503	SO:0001819	synonymous_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56501319A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.408A>G	12.37:g.56501319A>G						RP11-603J24.9_ENST00000548861.1_Silent_p.T117T|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.T136T	p.T136T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		5	827	+			136					O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	c.408A>G	CCDS8902.1																																																																																				0.453	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		20	128	0	0	0	1	0	20	128				
ST6GAL2	84620	broad.mit.edu	37	2	107460056	107460056	+	Silent	SNP	C	C	T			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:107460056C>T	ENST00000409382.3	-	2	988	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ST6GAL2_ENST00000361686.4_Silent_p.P126P|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.P126P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	126					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTCATCCTCCGGGTAGAAAG	0.552																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(376-378)ccG>ccA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							77.0	92.0	87.0					2																	107460056		2199	4299	6498	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460056C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.378G>A	2.37:g.107460056C>T						ST6GAL2_ENST00000361686.4_Silent_p.P126P|ST6GAL2_ENST00000409087.3_Silent_p.P126P	p.P126P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	988	-			126					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.378G>A	CCDS2073.1																																																																																				0.552	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	145	0	0	0	1	0	5	145				
MBNL3	55796	broad.mit.edu	37	X	131524902	131524902	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:131524902C>G	ENST00000370853.3	-	4	822	c.744G>C	c.(742-744)caG>caC	p.Q248H	MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000538204.1_Missense_Mutation_p.Q198H|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q152H|MBNL3_ENST00000370849.3_Missense_Mutation_p.Q198H|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q248H|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q152H|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q248H|RAP2C-AS1_ENST00000441399.2_RNA	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	248					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AATGGTTCATCTGATGATGAG	0.458																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(592-594)caG>caC		muscleblind-like splicing regulator 3							111.0	87.0	95.0					X																	131524902		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131524902C>G	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.744G>C	X.37:g.131524902C>G	ENSP00000359890:p.Gln248His					RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q152H|MBNL3_ENST00000370853.3_Missense_Mutation_p.Q248H|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q248H|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q152H|MBNL3_ENST00000370849.3_Missense_Mutation_p.Q198H|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q248H|RP5-842K24.2_ENST00000421483.1_RNA	p.Q198H	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			4	659	-	Acute lymphoblastic leukemia(192;0.000127)		248					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.594G>C	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927485	0.73327	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000442191;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.74	4.86	0.63082	.	0.076644	0.56097	N	0.000033	T	0.68577	0.3016	M	0.85630	2.765	0.50632	D	0.999886	D;D;D;D;D	0.69078	0.958;0.997;0.997;0.997;0.958	P;D;D;D;P	0.87578	0.749;0.998;0.998;0.998;0.882	T	0.74481	-0.3651	10	0.66056	D	0.02	-4.4312	15.6878	0.77424	0.0:0.8664:0.1336:0.0	.	198;248;248;198;152	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	H	152;198;248;248;198;248;152;29;152;152	ENSP00000377848:Q152H;ENSP00000439618:Q198H;ENSP00000359894:Q248H;ENSP00000359890:Q248H;ENSP00000359886:Q198H;ENSP00000359876:Q248H;ENSP00000359881:Q152H;ENSP00000412065:Q29H;ENSP00000406014:Q152H;ENSP00000402128:Q152H	ENSP00000359876:Q248H	Q	-	3	2	MBNL3	131352583	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.459000	0.35234	1.129000	0.42072	0.513000	0.50165	CAG		0.458	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		5	79	0	0	0	1	0	5	79				
TLN2	83660	broad.mit.edu	37	15	63127959	63127959	+	Silent	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:63127959T>C	ENST00000561311.1	+	55	7382	c.7152T>C	c.(7150-7152)gcT>gcC	p.A2384A	TLN2_ENST00000306829.6_Silent_p.A2384A|RP11-1069G10.1_ENST00000558404.1_RNA|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2384	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCAATGCTGCAGACGACG	0.602																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7150-7152)gcT>gcC		talin 2							182.0	186.0	185.0					15																	63127959		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63127959T>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7152T>C	15.37:g.63127959T>C						RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Silent_p.A2384A	p.A2384A			Q9Y4G6	TLN2_HUMAN			55	7382	+			2384			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7152T>C	CCDS32261.1																																																																																				0.602	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			40	194	0	0	0	1	0	40	194				
ERC1	23085	broad.mit.edu	37	12	1219448	1219448	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:1219448G>A	ENST00000397203.2	+	5	1658	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.E418K|ERC1_ENST00000546231.2_Missense_Mutation_p.E418K|ERC1_ENST00000589028.1_Missense_Mutation_p.E418K|ERC1_ENST00000543086.3_Missense_Mutation_p.E418K|ERC1_ENST00000360905.4_Missense_Mutation_p.E418K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	418					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTACTGAGGAAAGGGAAGA	0.388																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1252-1254)Gaa>Aaa		ELKS/RAB6-interacting/CAST family member 1							114.0	116.0	116.0					12																	1219448		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1219448G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1252G>A	12.37:g.1219448G>A	ENSP00000380386:p.Glu418Lys					ERC1_ENST00000355446.5_Missense_Mutation_p.E418K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.E418K|ERC1_ENST00000546231.2_Missense_Mutation_p.E418K|ERC1_ENST00000543086.3_Missense_Mutation_p.E418K|ERC1_ENST00000589028.1_Missense_Mutation_p.E418K	p.E418K			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		5	1658	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		418					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1252G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535756	0.96460	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.93	5.93	0.95920	.	0.195954	0.53938	D	0.000054	T	0.65176	0.2666	L	0.54323	1.7	0.80722	D	1	B;B;D;D;B	0.76494	0.065;0.065;0.999;0.992;0.418	B;B;D;D;B	0.80764	0.044;0.049;0.994;0.944;0.377	T	0.54675	-0.8258	10	0.21540	T	0.41	-11.1144	20.3938	0.98981	0.0:0.0:1.0:0.0	.	194;55;418;418;418	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	K	418;418;418;418;418;418;418;418;418;418;194;55	ENSP00000340054:E418K;ENSP00000380386:E418K;ENSP00000438546:E418K;ENSP00000445336:E418K;ENSP00000442739:E418K;ENSP00000347621:E418K;ENSP00000354158:E418K;ENSP00000410064:E418K	ENSP00000340054:E418K	E	+	1	0	ERC1	1089709	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	9.823000	0.99369	2.831000	0.97527	0.585000	0.79938	GAA		0.388	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		7	52	0	0	0	1	0	7	52				
SPATA31E1	286234	broad.mit.edu	37	9	90500727	90500727	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr9:90500727A>G	ENST00000325643.5	+	4	1391	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	442					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTTTCTGGGACCTCCCCTCT	0.567																																						ENST00000325643.5																			0											c.(1324-1326)gAc>gGc		SPATA31 subfamily E, member 1							132.0	130.0	131.0					9																	90500727		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90500727A>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1325A>G	9.37:g.90500727A>G	ENSP00000322640:p.Asp442Gly						p.D442G	NM_178828.4	NP_849150.3					4	1391	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1325A>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.533330	0.00145	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.01388	4.95	2.64	1.73	0.24493	.	0.261415	0.27415	N	0.019473	T	0.00328	0.0010	N	0.00072	-2.265	0.19775	N	0.999957	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.46289	-0.9202	10	0.02654	T	1	.	5.2028	0.15275	0.1711:0.0:0.8289:0.0	.	442;94	Q6ZUB1;Q8NA33	CI079_HUMAN;.	G	442;94	ENSP00000322640:D442G	ENSP00000322640:D442G	D	+	2	0	C9orf79	89690547	0.983000	0.35010	0.957000	0.39632	0.012000	0.07955	-0.040000	0.12104	0.670000	0.31165	-0.237000	0.12165	GAC		0.567	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		6	146	0	0	0	1	0	6	146				
CASZ1	54897	broad.mit.edu	37	1	10703273	10703273	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:10703273G>A	ENST00000377022.3	-	19	4281	c.3964C>T	c.(3964-3966)Cgg>Tgg	p.R1322W	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1322					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ATGTGCTTCCGCGCGTGGGAG	0.642																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(3964-3966)Cgg>Tgg		castor zinc finger 1							58.0	66.0	63.0					1																	10703273		2095	4211	6306	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10703273G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3964C>T	1.37:g.10703273G>A	ENSP00000366221:p.Arg1322Trp					RP4-734G22.3_ENST00000606802.1_RNA	p.R1322W	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	19	4281	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1322					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.3964C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658834	0.88154	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.94	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.46145	U	0.000311	T	0.75488	0.3856	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77800	-0.2452	9	0.87932	D	0	-12.1937	13.3004	0.60321	0.0:0.0:0.6971:0.3029	.	1322	Q86V15	CASZ1_HUMAN	W	1322	.	ENSP00000366221:R1322W	R	-	1	2	CASZ1	10625860	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.391000	0.73208	1.044000	0.40200	0.561000	0.74099	CGG		0.642	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	109	0	0	0	1	0	4	109				
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T	rs200171403		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)cGg>cAg		CD209 molecule							88.0	91.0	90.0					19																	7810766		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810766C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.386G>A	19.37:g.7810766C>T	ENSP00000315477:p.Arg129Gln					CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q	p.R129Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	408	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.386G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	0.564	-0.844081	0.02671	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;2.29	1.41	-2.82	0.05787	.	.	.	.	.	T	0.07413	0.0187	N	0.04787	-0.16	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.19935	0.038;0.002;0.002;0.012;0.021;0.005;0.013;0.02;0.04;0.021	B;B;B;B;B;B;B;B;B;B	0.12156	0.006;0.006;0.001;0.004;0.004;0.002;0.002;0.005;0.005;0.007	T	0.38866	-0.9641	9	0.09843	T	0.71	.	6.588	0.22632	0.0:0.4003:0.0:0.5997	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	129;129;105;85;129;85;113	ENSP00000315477:R129Q;ENSP00000346373:R129Q;ENSP00000315407:R105Q;ENSP00000204801:R85Q;ENSP00000301357:R85Q	ENSP00000204801:R85Q	R	-	2	0	CD209	7716766	0.000000	0.05858	0.009000	0.14445	0.384000	0.30261	-1.923000	0.01567	-1.604000	0.01595	-1.804000	0.00617	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	203	0	0	0	1	0	5	203				
MYOM2	9172	broad.mit.edu	37	8	2040226	2040226	+	Silent	SNP	G	G	A	rs376971771		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:2040226G>A	ENST00000262113.4	+	16	2022	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	MYOM2_ENST00000523438.1_Silent_p.S52S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	627	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGACGTCGGTGGTGGTGC	0.577																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1879-1881)tcG>tcA		myomesin 2		G		0,4406		0,0,2203	194.0	176.0	182.0		1881	-11.4	0.0	8		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		627/1466	2040226	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040226G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1881G>A	8.37:g.2040226G>A						MYOM2_ENST00000523438.1_Silent_p.S52S	p.S627S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	16	2022	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	627			Fibronectin type-III 3.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1881G>A	CCDS5957.1																																																																																				0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	174	0	0	0	1	0	16	174				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	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)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		62	32	0	0	0	1	0	62	32				
BNIP2	663	broad.mit.edu	37	15	59961125	59961125	+	Missense_Mutation	SNP	T	T	C	rs201360063		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:59961125T>C	ENST00000607373.1	-	9	1061	c.859A>G	c.(859-861)Atg>Gtg	p.M287V	BNIP2_ENST00000478981.1_5'UTR|BNIP2_ENST00000267859.3_Missense_Mutation_p.M408V|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Missense_Mutation_p.M349V	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	287	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACGTATTCCATGGGGACAAGT	0.308																																					Ovarian(174;1936 1978 6671 8240 38212)	ENST00000267859.3																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(1222-1224)Atg>Gtg		BCL2/adenovirus E1B 19kDa interacting protein 2		T	VAL/MET	0,4380		0,0,2190	86.0	82.0	83.0		1222	5.9	1.0	15		83	2,8578	1.2+/-3.3	0,2,4288	yes	missense	BNIP2	NM_004330.2	21	0,2,6478	CC,CT,TT		0.0233,0.0,0.0154	benign	408/436	59961125	2,12958	2190	4290	6480	SO:0001583	missense	663				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	g.chr15:59961125T>C	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.859A>G	15.37:g.59961125T>C	ENSP00000475320:p.Met287Val					BNIP2_ENST00000607373.1_Missense_Mutation_p.M287V|BNIP2_ENST00000478981.1_5'UTR|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Missense_Mutation_p.M349V	p.M408V			Q12982	BNIP2_HUMAN			9	1315	-			287					B4DS94	Missense_Mutation	SNP	ENST00000607373.1	37	c.1222A>G		.	.	.	.	.	.	.	.	.	.	T	20.4	3.975876	0.74360	0.0	2.33E-4	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	D;D;T	0.83837	-1.77;-1.77;0.07	5.93	5.93	0.95920	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.43554	1.36	0.80722	D	1	B;B	0.33379	0.41;0.198	B;B	0.41174	0.349;0.237	T	0.78585	-0.2147	9	.	.	.	-17.4239	16.3871	0.83514	0.0:0.0:0.0:1.0	.	287;349	Q12982;Q12982-2	BNIP2_HUMAN;.	V	408;349;165	ENSP00000267859:M408V;ENSP00000412767:M349V;ENSP00000393644:M165V	.	M	-	1	0	BNIP2	57748417	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.698000	0.84413	2.270000	0.75569	0.482000	0.46254	ATG		0.308	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		27	47	0	0	0	1	0	27	47				
DNAJC11	55735	broad.mit.edu	37	1	6697392	6697392	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:6697392T>C	ENST00000377577.5	-	14	1513	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Missense_Mutation_p.I374V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.I426V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I412V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	464						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCATTGACGATGATGAGGCCT	0.572																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1390-1392)Atc>Gtc		DnaJ (Hsp40) homolog, subfamily C, member 11							240.0	199.0	213.0					1																	6697392		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6697392T>C	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1390A>G	1.37:g.6697392T>C	ENSP00000366800:p.Ile464Val					DNAJC11_ENST00000377573.5_Missense_Mutation_p.I374V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I412V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.I426V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR	p.I464V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1513	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	464					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1390A>G	CCDS87.1	.	.	.	.	.	.	.	.	.	.	T	7.526	0.657660	0.14645	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.53640	1.31;1.33;1.08;0.61	5.71	4.59	0.56863	DnaJ-like protein C11, C-terminal (1);	0.172850	0.50627	D	0.000118	T	0.40979	0.1139	L	0.55103	1.725	0.45995	D	0.998808	B;B;B	0.23806	0.006;0.091;0.024	B;B;B	0.25506	0.01;0.061;0.047	T	0.21655	-1.0239	10	0.31617	T	0.26	-7.5285	8.3093	0.32062	0.0:0.1674:0.0:0.8326	.	374;412;464	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	V	464;412;426;374	ENSP00000366800:I464V;ENSP00000294401:I412V;ENSP00000444020:I426V;ENSP00000366796:I374V	ENSP00000294401:I412V	I	-	1	0	DNAJC11	6619979	1.000000	0.71417	0.950000	0.38849	0.082000	0.17680	3.090000	0.50191	0.998000	0.38996	-0.250000	0.11733	ATC		0.572	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		7	153	0	0	0	1	0	7	153				
IDH2	3418	broad.mit.edu	37	15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:90631837C>A	ENST00000330062.3	-	4	629	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000540499.2_Missense_Mutation_p.R120S	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172S(17)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		18	Substitution - Missense(18)	p.R172S(17)|p.R172N(1)	bone(11)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(1)|large_intestine(1)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)agG>agT		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	80.0	82.0					15																	90631837		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631837C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.516G>T	15.37:g.90631837C>A	ENSP00000331897:p.Arg172Ser					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000540499.2_Missense_Mutation_p.R120S	p.R172S	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	629	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.516G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068847	0.36470	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86865	-2.18;-2.18;-2.18	5.93	-3.19	0.05171	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	H	0.98487	4.245	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	5.0108	0.14312	0.237:0.2848:0.0:0.4782	.	172	P48735	IDHP_HUMAN	S	172;42;120	ENSP00000331897:R172S;ENSP00000438457:R42S;ENSP00000446147:R120S	ENSP00000331897:R172S	R	-	3	2	IDH2	88432841	0.145000	0.22656	0.004000	0.12327	0.001000	0.01503	-0.449000	0.06812	-0.649000	0.05430	-1.288000	0.01363	AGG		0.637	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			26	43	1	0	6.32553e-13	1	6.67695e-13	26	43				
AR	367	broad.mit.edu	37	X	66765383	66765383	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:66765383T>C	ENST00000374690.3	+	1	919	c.395T>C	c.(394-396)gTc>gCc	p.V132A	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.V132A|AR_ENST00000504326.1_Missense_Mutation_p.V132A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	130	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGAGGTTGCGTCCCAGAGCCT	0.677									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(394-396)gTc>gCc		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						16.0	12.0	14.0					X																	66765383		2163	4241	6404	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765383T>C	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.395T>C	X.37:g.66765383T>C	ENSP00000363822:p.Val132Ala					AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.V132A|AR_ENST00000396044.3_Missense_Mutation_p.V132A	p.V132A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	919	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	130			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.395T>C	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	t	9.704	1.155220	0.21371	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95001	-3.58;-3.58;-3.58	5.21	5.21	0.72293	.	0.987011	0.08261	N	0.973012	D	0.96093	0.8727	M	0.83692	2.655	0.09310	N	1	B;B;B	0.30361	0.277;0.078;0.112	B;B;B	0.43194	0.411;0.297;0.119	D	0.90796	0.4690	10	0.72032	D	0.01	.	10.152	0.42801	0.0:0.0:0.0:1.0	.	132;132;130	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	A	132;132;132;124	ENSP00000363822:V132A;ENSP00000421155:V132A;ENSP00000379359:V132A	ENSP00000363822:V132A	V	+	2	0	AR	66682108	0.598000	0.26882	0.005000	0.12908	0.077000	0.17291	0.922000	0.28734	1.921000	0.55644	0.414000	0.27820	GTC		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	2	0	0	0	1	0	3	2				
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T	rs368233775	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587													-|||	10	0.00199681	0.0061	0.0	5008	,	,		27740	0.001		0.001	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1717-1719)gaC>gaT		TRIO and F-actin binding protein		C		7,3759		0,7,1876	56.0	91.0	80.0		1719	-4.7	0.0	22		80	3,8255		0,3,4126	no	coding-synonymous	TRIOBP	NM_001039141.2		0,10,6002	TT,TC,CC		0.0363,0.1859,0.0832		573/2366	38120282	10,12014	1883	4129	6012	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120282C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1719C>T	22.37:g.38120282C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.D573D	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1974	+	Melanoma(58;0.0574)		573					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1719C>T	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	154	0	0	0	1	0	7	154				
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A	rs183702666	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470									tubulin, beta pseudogene 5									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592													.|||	1260	0.251597	0.2526	0.2939	5008	,	,		9939	0.125		0.339	False		,,,				2504	0.2607					ENST00000503395.1																			1	Substitution - Missense(1)	p.R105H(1)	prostate(1)																																																0							g.chr9:141070695G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070695G>A														0	1470	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.592	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	9	0	0	0	1	0	5	9				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	28	0	0	0	1	0	3	28				
ABLIM1	3983	broad.mit.edu	37	10	116207683	116207683	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:116207683A>G	ENST00000277895.5	-	15	1788	c.1691T>C	c.(1690-1692)aTt>aCt	p.I564T	ABLIM1_ENST00000392952.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000369266.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000533213.2_Missense_Mutation_p.I504T|ABLIM1_ENST00000369252.4_Missense_Mutation_p.I504T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.I187T	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	564					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCGTCTCAATCTTTGGTGT	0.547																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1510-1512)aTt>aCt		actin binding LIM protein 1							133.0	111.0	118.0					10																	116207683		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116207683A>G	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1691T>C	10.37:g.116207683A>G	ENSP00000277895:p.Ile564Thr					ABLIM1_ENST00000392952.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000277895.5_Missense_Mutation_p.I564T|ABLIM1_ENST00000369266.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000533213.2_Missense_Mutation_p.I504T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.I187T	p.I504T	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	15	1812	-		Colorectal(252;0.0373)|Breast(234;0.231)	564					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1511T>C	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537197	0.45176	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000277895;ENST00000369253	T;T;T;T	0.38722	1.28;1.12;1.28;1.12	5.83	5.83	0.93111	.	0.053607	0.85682	D	0.000000	T	0.50411	0.1614	L	0.54965	1.715	0.58432	D	0.999998	P;P;B;P;B;B;P	0.52316	0.843;0.952;0.079;0.746;0.444;0.013;0.843	P;P;B;P;B;B;P	0.52598	0.487;0.703;0.065;0.557;0.164;0.004;0.487	T	0.39375	-0.9617	10	0.22109	T	0.4	.	16.2041	0.82108	1.0:0.0:0.0:0.0	.	504;532;564;241;534;488;187	F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.;.;ABLM1_HUMAN;.;.;.;.	T	564;504;241;187;532;504;632;488;241;488;632;316	ENSP00000358256:I504T;ENSP00000376679:I241T;ENSP00000433629:I504T;ENSP00000358270:I241T	ENSP00000277895:I632T	I	-	2	0	ABLIM1	116197673	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.881000	0.69706	2.219000	0.72066	0.533000	0.62120	ATT		0.547	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			4	87	0	0	0	1	0	4	87				
ZNF318	24149	broad.mit.edu	37	6	43310590	43310590	+	Missense_Mutation	SNP	G	G	A	rs147313268		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:43310590G>A	ENST00000361428.2	-	7	3177	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C	ZNF318_ENST00000318149.3_Missense_Mutation_p.R1034C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1034				RT -> CI (in Ref. 1; AAD47387/AAD17298). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTTAGTACGAAACTTCTCA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		17354	0.0		0.001	False		,,,				2504	0.0					ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3100-3102)Cgt>Tgt		zinc finger protein 318		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	74.0	72.0		3100	-0.5	0.0	6	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZNF318	NM_014345.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	1034/2280	43310590	3,13003	2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43310590G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3100C>T	6.37:g.43310590G>A	ENSP00000354964:p.Arg1034Cys					ZNF318_ENST00000318149.3_Missense_Mutation_p.R1034C	p.R1034C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		7	3177	-			1034	RT -> CI (in Ref. 1; AAD47387/AAD17298).				O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3100C>T	CCDS4895.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.640	0.895673	0.17686	2.27E-4	2.33E-4	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.32988	1.43;2.65	5.51	-0.507	0.11985	.	1.685180	0.02824	N	0.125882	T	0.04770	0.0129	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.23297	-1.0192	10	0.37606	T	0.19	15.5149	1.0506	0.01579	0.344:0.1049:0.3346:0.2165	.	1034	Q5VUA4	ZN318_HUMAN	C	1034	ENSP00000323032:R1034C;ENSP00000354964:R1034C	ENSP00000323032:R1034C	R	-	1	0	ZNF318	43418568	0.000000	0.05858	0.000000	0.03702	0.933000	0.57130	0.049000	0.14099	-0.295000	0.08960	0.557000	0.71058	CGT		0.433	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		6	28	0	0	0	1	0	6	28				
CXCR2	3579	broad.mit.edu	37	2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	rs75759064		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19612	0.0		0.0	False		,,,				2504	0.0					ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(109-111)Gcc>Acc		chemokine (C-X-C motif) receptor 2		G	THR/ALA,THR/ALA	0,4406		0,0,2203	138.0	134.0	135.0		109,109	-0.2	0.0	2	dbSNP_131	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CXCR2	NM_001168298.1,NM_001557.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	37/361,37/361	218999633	1,13005	2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999633G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.109G>A	2.37:g.218999633G>A	ENSP00000319635:p.Ala37Thr						p.A37T	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	536	+			37					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.109G>A	CCDS2408.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.924	0.961740	0.18583	0.0	1.16E-4	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.29	-0.235	0.13071	.	1.705500	0.03116	N	0.163122	T	0.20780	0.0500	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.16041	-1.0416	10	0.32370	T	0.25	.	6.1886	0.20512	0.152:0.0:0.2775:0.5705	.	37	P25025	CXCR2_HUMAN	T	37	ENSP00000413686:A37T;ENSP00000392348:A37T;ENSP00000319635:A37T;ENSP00000415148:A37T;ENSP00000392698:A37T	ENSP00000319635:A37T	A	+	1	0	CXCR2	218707878	0.000000	0.05858	0.027000	0.17364	0.060000	0.15804	0.060000	0.14342	-0.270000	0.09285	-0.225000	0.12378	GCC		0.448	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		53	116	0	0	0	1	0	53	116				
TEX11	56159	broad.mit.edu	37	X	70073157	70073157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:70073157C>A	ENST00000395889.2	-	7	546	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.E116*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E131*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	131					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCAACCATTCTTTTCCTATT	0.343																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(391-393)Gaa>Taa		testis expressed 11							62.0	55.0	57.0					X																	70073157		2203	4299	6502	SO:0001587	stop_gained	0						protein binding	g.chrX:70073157C>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.391G>T	X.37:g.70073157C>A	ENSP00000379226:p.Glu131*					TEX11_ENST00000374333.2_Nonsense_Mutation_p.E116*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E131*	p.E131*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			7	546	-	Renal(35;0.156)		131					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.391G>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.855052	0.51376	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	4.67	2.88	0.33553	.	0.610172	0.16556	N	0.209274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5313	7.6777	0.28494	0.0:0.743:0.1611:0.0959	.	.	.	.	X	116;131;131	.	.	E	-	1	0	TEX11	69989882	0.908000	0.30866	0.120000	0.21714	0.001000	0.01503	1.553000	0.36255	0.504000	0.28082	-0.208000	0.12717	GAA		0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			16	37	1	0	3.32936e-07	1	3.46618e-07	16	37				
NDST2	8509	broad.mit.edu	37	10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:75565368G>C	ENST00000309979.6	-	8	2279	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Q575E|NDST2_ENST00000299641.4_Missense_Mutation_p.Q452E			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	575	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.Q575E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512																																						ENST00000299641.4																			1	Substitution - Missense(1)	p.Q575E(1)	lung(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1354-1356)Cag>Gag		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							49.0	46.0	47.0					10																	75565368		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75565368G>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1723C>G	10.37:g.75565368G>C	ENSP00000310657:p.Gln575Glu					NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E	p.Q452E	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			9	2324	-	Prostate(51;0.0112)		575			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1354C>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	3.636	-0.074493	0.07184	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.38240	1.48;1.15	5.8	4.89	0.63831	.	0.171411	0.50627	N	0.000104	T	0.07999	0.0200	N	0.00085	-2.2	0.41151	D	0.986028	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	15.5503	0.76145	0.0:0.4206:0.5794:0.0	.	452;245;575	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	E	575;452	ENSP00000310657:Q575E;ENSP00000299641:Q452E	ENSP00000299641:Q452E	Q	-	1	0	NDST2	75235374	0.938000	0.31826	1.000000	0.80357	0.998000	0.95712	1.720000	0.38022	1.416000	0.47057	0.650000	0.86243	CAG		0.512	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		3	41	0	0	0	1	0	3	41				
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		7	218						7	218	---	---	---	---
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581																																						ENST00000510274.1																			0																																																			0							g.chr5:87980814_87980816delGAG																													5.37:g.87980823_87980825delGAG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.581	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			4	9						4	9	---	---	---	---
ZACN	353174	broad.mit.edu	37	17	74076491	74076492	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:74076491_74076492delCT	ENST00000334586.5	+	5	613_614	c.530_531delCT	c.(529-531)gctfs	p.A177fs	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	177					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCTTCTACGCTCTCAGCAACA	0.644																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(529-531)gfs		zinc activated ligand-gated ion channel																																				SO:0001589	frameshift_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74076491_74076492delCT	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.530_531delCT	17.37:g.74076493_74076494delCT	ENSP00000334854:p.Ala177fs					ZACN_ENST00000392503.2_Intron	p.A177fs	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			5	613_614	+			177					Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Del	DEL	ENST00000334586.5	37	c.530_531delCT	CCDS11740.2																																																																																				0.644	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		60	94						60	94	---	---	---	---
SRPK3	26576	broad.mit.edu	37	X	153046565	153046566	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:153046565_153046566insA	ENST00000370101.3	+	1	70_71	c.24_25insA	c.(25-27)gggfs	p.G9fs	SRPK3_ENST00000370108.3_Frame_Shift_Ins_p.G9fs|SRPK3_ENST00000370104.1_Frame_Shift_Ins_p.G9fs|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000489426.1_Intron|SRPK3_ENST00000393786.3_Frame_Shift_Ins_p.G9fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	9					cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGggcggtggtggggacagcgg	0.748																																					Esophageal Squamous(167;766 3400 32156)	ENST00000370101.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(22-27)gggggafs		SRSF protein kinase 3																																				SO:0001589	frameshift_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153046565_153046566insA	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	Exception_encountered	X.37:g.153046565_153046566insA	ENSP00000359119:p.Gly9fs					SRPK3_ENST00000393786.3_Frame_Shift_Ins_p.GG8fs|SRPK3_ENST00000489426.1_Intron|SRPK3_ENST00000370108.3_Frame_Shift_Ins_p.GG8fs|SRPK3_ENST00000370104.1_Frame_Shift_Ins_p.GG8fs	p.GG8fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN			1	70_71	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		8					Q13583|Q4F970|Q562F5|Q9UM62	Frame_Shift_Ins	INS	ENST00000370101.3	37	c.24_25insA	CCDS35441.1																																																																																				0.748	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		2	4						2	4	---	---	---	---
