#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
ALOX5	240	broad.mit.edu	37	10	45941110	45941110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:45941110G>A	ENST00000374391.2	+	14	2053	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R610Q|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	667	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TCCCCAGACCGGATTCCGAAC	0.587																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1999-2001)cGg>cAg		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						100.0	93.0	95.0					10																	45941110		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941110G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.2000G>A	10.37:g.45941110G>A	ENSP00000363512:p.Arg667Gln					ALOX5_ENST00000542434.1_Missense_Mutation_p.R610Q|RP11-67C2.2_ENST00000435635.1_RNA	p.R667Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			14	2053	+		Lung SC(717;0.0257)	667			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.2000G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171098	0.38315	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89875	-2.58;-2.58	5.44	4.55	0.56014	Lipoxygenase, C-terminal (2);	0.097634	0.64402	N	0.000003	T	0.81635	0.4864	M	0.62209	1.925	0.26670	N	0.971741	B;P;P	0.39480	0.343;0.51;0.675	B;B;B	0.19391	0.019;0.025;0.014	T	0.71600	-0.4544	10	0.11182	T	0.66	-35.258	11.9177	0.52776	0.0833:0.0:0.9167:0.0	.	610;635;667	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	Q	610;667	ENSP00000437634:R610Q;ENSP00000363512:R667Q	ENSP00000363512:R667Q	R	+	2	0	ALOX5	45261116	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	5.287000	0.65645	1.544000	0.49359	0.655000	0.94253	CGG		0.587	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			8	83	0	0	0	1	0	8	83				
ZNF532	55205	broad.mit.edu	37	18	56586443	56586443	+	Silent	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr18:56586443G>A	ENST00000336078.4	+	4	1700	c.924G>A	c.(922-924)ccG>ccA	p.P308P	ZNF532_ENST00000589288.1_Silent_p.P308P|ZNF532_ENST00000591230.1_Silent_p.P308P|ZNF532_ENST00000591083.1_Silent_p.P308P|ZNF532_ENST00000591808.1_Silent_p.P308P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGACAGTCCGAGAGCCGCTG	0.517																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(922-924)ccG>ccA		zinc finger protein 532							90.0	92.0	91.0					18																	56586443		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586443G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.924G>A	18.37:g.56586443G>A						ZNF532_ENST00000591808.1_Silent_p.P308P|ZNF532_ENST00000591230.1_Silent_p.P308P|ZNF532_ENST00000591083.1_Silent_p.P308P|ZNF532_ENST00000589288.1_Silent_p.P308P	p.P308P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1700	+			308					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.924G>A	CCDS11969.1																																																																																				0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		5	117	0	0	0	1	0	5	117				
SOCS6	9306	broad.mit.edu	37	18	67992202	67992202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr18:67992202G>A	ENST00000397942.3	+	2	614	c.298G>A	c.(298-300)Gac>Aac	p.D100N	SOCS6_ENST00000582322.1_Missense_Mutation_p.D100N	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	100					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAGCTCTGCCGACGAGGACAC	0.552																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(298-300)Gac>Aac		suppressor of cytokine signaling 6							57.0	61.0	59.0					18																	67992202		2203	4299	6502	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992202G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.298G>A	18.37:g.67992202G>A	ENSP00000381034:p.Asp100Asn					SOCS6_ENST00000582322.1_Missense_Mutation_p.D100N	p.D100N	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	614	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	100					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.298G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	9.713	1.157722	0.21454	.	.	ENSG00000170677	ENST00000397942	T	0.30182	1.54	5.12	4.24	0.50183	.	0.197384	0.40818	N	0.001018	T	0.23926	0.0579	L	0.43923	1.385	0.54753	D	0.999986	P	0.35793	0.521	B	0.21708	0.036	T	0.06752	-1.0809	10	0.87932	D	0	-12.6606	13.4933	0.61408	0.0757:0.0:0.9243:0.0	.	100	O14544	SOCS6_HUMAN	N	100	ENSP00000381034:D100N	ENSP00000381034:D100N	D	+	1	0	SOCS6	66143182	1.000000	0.71417	0.030000	0.17652	0.009000	0.06853	7.929000	0.87595	1.139000	0.42245	0.561000	0.74099	GAC		0.552	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			4	72	0	0	0	1	0	4	72				
UNC5B	219699	broad.mit.edu	37	10	73046597	73046597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:73046597G>A	ENST00000335350.6	+	5	1120	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	UNC5B_ENST00000373192.4_Missense_Mutation_p.R235Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	235	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCAAACGCCGGAGCACCACT	0.647																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(703-705)cGg>cAg		unc-5 homolog B (C. elegans)							165.0	154.0	158.0					10																	73046597		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73046597G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.704G>A	10.37:g.73046597G>A	ENSP00000334329:p.Arg235Gln					UNC5B_ENST00000373192.4_Missense_Mutation_p.R235Q	p.R235Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			5	1120	+			235			Ig-like C2-type.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.704G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.889680	0.97068	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.66280	-0.2;-0.2	5.34	5.34	0.76211	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	L	0.60012	1.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.71663	-0.4525	10	0.25751	T	0.34	-31.4861	19.0368	0.92982	0.0:0.0:1.0:0.0	.	235;235	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	Q	235	ENSP00000334329:R235Q;ENSP00000362288:R235Q	ENSP00000334329:R235Q	R	+	2	0	UNC5B	72716603	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.031000	0.88826	2.504000	0.84457	0.561000	0.74099	CGG		0.647	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	203	0	0	0	1	0	7	203				
KCNG4	93107	broad.mit.edu	37	16	84255940	84255940	+	Silent	SNP	G	G	A	rs201846853		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr16:84255940G>A	ENST00000308251.4	-	3	1511	c.1443C>T	c.(1441-1443)acC>acT	p.T481T		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	481					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGGCTGGACCGGTGTTTTGGA	0.587																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1441-1443)acC>acT		potassium voltage-gated channel, subfamily G, member 4							115.0	120.0	118.0					16																	84255940		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84255940G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1443C>T	16.37:g.84255940G>A							p.T481T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1511	-			481					Q96H24	Silent	SNP	ENST00000308251.4	37	c.1443C>T	CCDS10945.1																																																																																				0.587	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		4	164	0	0	0	1	0	4	164				
SLC27A4	10999	broad.mit.edu	37	9	131115818	131115818	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr9:131115818C>G	ENST00000300456.4	+	9	1439	c.1322C>G	c.(1321-1323)cCa>cGa	p.P441R	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	441					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCCTGCCAGCCAGGTCTGCCA	0.642																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1321-1323)cCa>cGa		solute carrier family 27 (fatty acid transporter), member 4							41.0	44.0	43.0					9																	131115818		2203	4298	6501	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131115818C>G	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1322C>G	9.37:g.131115818C>G	ENSP00000300456:p.Pro441Arg					SLC27A4_ENST00000372870.1_Intron	p.P441R	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			9	1439	+			441					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.1322C>G	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814766	0.90790	.	.	ENSG00000167114	ENST00000300456	T	0.45276	0.9	5.9	5.9	0.94986	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.49485	-0.8935	10	0.31617	T	0.26	-11.6461	19.2671	0.93993	0.0:1.0:0.0:0.0	.	441	Q6P1M0	S27A4_HUMAN	R	441	ENSP00000300456:P441R	ENSP00000300456:P441R	P	+	2	0	SLC27A4	130155639	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.460000	0.80816	2.788000	0.95919	0.650000	0.86243	CCA		0.642	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			5	73	0	0	0	1	0	5	73				
SPOPL	339745	broad.mit.edu	37	2	139326635	139326635	+	Silent	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr2:139326635G>A	ENST00000280098.4	+	11	1543	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	388					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CACGCAAACGGCTAAAACAGT	0.443																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(1162-1164)cgG>cgA		speckle-type POZ protein-like							221.0	217.0	218.0					2																	139326635		2203	4300	6503	SO:0001819	synonymous_variant	339745					nucleus		g.chr2:139326635G>A		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1164G>A	2.37:g.139326635G>A							p.R388R	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	11	1543	+			388						Silent	SNP	ENST00000280098.4	37	c.1164G>A	CCDS33298.1																																																																																				0.443	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			5	263	0	0	0	1	0	5	263				
HMGB4	127540	broad.mit.edu	37	1	34330062	34330062	+	Silent	SNP	C	C	T			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr1:34330062C>T	ENST00000522796.1	+	4	2175	c.270C>T	c.(268-270)ccC>ccT	p.P90P	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P90P			Q8WW32	HMGB4_HUMAN	high mobility group box 4	90						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCGGGATCCCCAGGAACCCA	0.532																																						ENST00000522796.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(268-270)ccC>ccT		high mobility group box 4							125.0	141.0	136.0					1																	34330062		2203	4300	6503	SO:0001819	synonymous_variant	127540					nucleus	DNA binding	g.chr1:34330062C>T		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.270C>T	1.37:g.34330062C>T						HMGB4_ENST00000519684.1_Silent_p.P90P|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron	p.P90P			B2R4X7	B2R4X7_HUMAN			4	2175	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	90					B2R4X7|Q0QWA4	Silent	SNP	ENST00000522796.1	37	c.270C>T	CCDS30668.1																																																																																				0.532	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		4	125	0	0	0	1	0	4	125				
RXFP3	51289	broad.mit.edu	37	5	33937183	33937183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr5:33937183G>A	ENST00000330120.3	+	1	693	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	113					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGGGCTGGCGCAAGTCCTCT	0.592																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(337-339)cGc>cAc		relaxin/insulin-like family peptide receptor 3							113.0	105.0	108.0					5																	33937183		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937183G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.338G>A	5.37:g.33937183G>A	ENSP00000328708:p.Arg113His						p.R113H	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	693	+			113					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.338G>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360684	0.61403	.	.	ENSG00000182631	ENST00000330120	T	0.38560	1.13	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.153499	0.53938	D	0.000047	T	0.39253	0.1071	L	0.39898	1.24	0.33688	D	0.613029	P	0.42456	0.78	P	0.45406	0.479	T	0.54302	-0.8314	10	0.48119	T	0.1	-20.2284	10.1322	0.42685	0.1488:0.0:0.8512:0.0	.	113	Q9NSD7	RL3R1_HUMAN	H	113	ENSP00000328708:R113H	ENSP00000328708:R113H	R	+	2	0	RXFP3	33972940	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.322000	0.43814	2.700000	0.92200	0.650000	0.86243	CGC		0.592	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		5	66	0	0	0	1	0	5	66				
GNS	2799	broad.mit.edu	37	12	65122744	65122744	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr12:65122744G>A	ENST00000258145.3	-	10	1362	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	GNS_ENST00000542058.1_Missense_Mutation_p.P378S|GNS_ENST00000418919.2_Missense_Mutation_p.P342S|GNS_ENST00000543646.1_Missense_Mutation_p.P430S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	398					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCAAAATGGGCAATAAGGAC	0.408																																						ENST00000258145.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15						c.(1192-1194)Ccc>Tcc		glucosamine (N-acetyl)-6-sulfatase							170.0	130.0	143.0					12																	65122744		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65122744G>A		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1192C>T	12.37:g.65122744G>A	ENSP00000258145:p.Pro398Ser					GNS_ENST00000418919.2_Missense_Mutation_p.P342S|GNS_ENST00000543646.1_Missense_Mutation_p.P430S|GNS_ENST00000542058.1_Missense_Mutation_p.P378S	p.P398S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	10	1362	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		398					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1192C>T	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172466	0.38315	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.44	5.44	0.79542	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	L	0.61218	1.895	0.80722	D	1	B;P;B;P	0.46859	0.387;0.885;0.115;0.489	B;P;B;B	0.45449	0.137;0.481;0.173;0.137	D	0.95192	0.8309	9	.	.	.	-17.5655	19.6457	0.95776	0.0:0.0:1.0:0.0	.	378;430;398;342	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	S	342;398;430;378;315;335	ENSP00000413130:P342S;ENSP00000258145:P398S;ENSP00000438497:P430S;ENSP00000444819:P378S	.	P	-	1	0	GNS	63409011	1.000000	0.71417	0.999000	0.59377	0.028000	0.11728	9.552000	0.98115	2.733000	0.93635	0.557000	0.71058	CCC		0.408	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			3	39	0	0	0	1	0	3	39				
CCNF	899	broad.mit.edu	37	16	2499864	2499864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr16:2499864G>A	ENST00000397066.4	+	13	1523	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	RP11-715J22.3_ENST00000561653.1_RNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	479					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)		p.G479V(1)|p.G479*(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGACCTCACCGGATTCTCCTA	0.617																																						ENST00000397066.4																			2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.G479V(1)|p.G479*(1)	lung(2)	breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1435-1437)Gga>Aga		cyclin F							144.0	134.0	137.0					16																	2499864		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2499864G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1435G>A	16.37:g.2499864G>A	ENSP00000380256:p.Gly479Arg						p.G479R	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			13	1523	+		Ovarian(90;0.17)	479					B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1435G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699439	0.68501	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.28069	1.63	5.2	5.2	0.72013	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.55471	-0.8136	10	0.56958	D	0.05	-39.5006	15.4697	0.75432	0.0:0.0:1.0:0.0	.	479	P41002	CCNF_HUMAN	R	479;394	ENSP00000380256:G479R	ENSP00000293968:G394R	G	+	1	0	CCNF	2439865	1.000000	0.71417	0.627000	0.29227	0.335000	0.28730	6.714000	0.74692	2.434000	0.82447	0.462000	0.41574	GGA		0.617	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		5	184	0	0	0	1	0	5	184				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	50	0	0	0	1	0	4	50				
PCIF1	63935	broad.mit.edu	37	20	44569514	44569514	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr20:44569514A>G	ENST00000372409.3	+	6	818	c.454A>G	c.(454-456)Acg>Gcg	p.T152A		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	152					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						AGGAACCCCAACGCTGAAGAT	0.562																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(454-456)Acg>Gcg		PDX1 C-terminal inhibiting factor 1							103.0	95.0	98.0					20																	44569514		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44569514A>G	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.454A>G	20.37:g.44569514A>G	ENSP00000361486:p.Thr152Ala						p.T152A	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			6	818	+			152					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.454A>G	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	A	5.585	0.292678	0.10567	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.12	3.99	0.46301	.	0.341686	0.30210	N	0.010150	T	0.12347	0.0300	N	0.02011	-0.69	0.26727	N	0.970662	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	9	0.21014	T	0.42	-1.2733	6.4014	0.21640	0.8316:0.0:0.1684:0.0	.	152	Q9H4Z3	PCIF1_HUMAN	A	152	.	ENSP00000361486:T152A	T	+	1	0	PCIF1	44002921	0.998000	0.40836	0.977000	0.42913	0.965000	0.64279	2.199000	0.42715	2.152000	0.67230	0.533000	0.62120	ACG		0.562	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		11	99	0	0	0	1	0	11	99				
CC2D2A	57545	broad.mit.edu	37	4	15504111	15504111	+	Missense_Mutation	SNP	C	C	T	rs367699902		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr4:15504111C>T	ENST00000503292.1	+	6	487	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CC2D2A_ENST00000413206.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R54C|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	103					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATGAGGGGACGCATGAGGGA	0.388																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(307-309)Cgc>Tgc		coiled-coil and C2 domain containing 2A							72.0	69.0	70.0					4																	15504111		1832	4094	5926	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15504111C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.307C>T	4.37:g.15504111C>T	ENSP00000421809:p.Arg103Cys					CC2D2A_ENST00000413206.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R103C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R54C	p.R103C			Q9P2K1	C2D2A_HUMAN			5	561	+			103					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.307C>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834763	0.71373	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.56	4.64	0.57946	.	0.065851	0.64402	D	0.000014	T	0.50735	0.1633	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.953;1.0	T	0.53885	-0.8375	10	0.87932	D	0	.	14.3659	0.66805	0.1579:0.8421:0.0:0.0	.	103;54;103	Q9P2K1;Q9P2K1-2;C9JKY6	C2D2A_HUMAN;.;.	C	103;103;54;54;103;103;54	ENSP00000403465:R103C;ENSP00000398391:R103C;ENSP00000422875:R103C;ENSP00000421809:R103C;ENSP00000374303:R54C	ENSP00000374303:R54C	R	+	1	0	CC2D2A	15113209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.767000	0.55288	2.616000	0.88540	0.563000	0.77884	CGC		0.388	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		6	48	0	0	0	1	0	6	48				
CPNE8	144402	broad.mit.edu	37	12	39079337	39079337	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr12:39079337A>G	ENST00000331366.5	-	16	1322	c.1226T>C	c.(1225-1227)cTa>cCa	p.L409P	CPNE8_ENST00000538596.2_Missense_Mutation_p.L78P|CPNE8_ENST00000360449.3_Missense_Mutation_p.L397P	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	409	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GGGCCCATATAGTTGTACAGA	0.428																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1225-1227)cTa>cCa		copine VIII							167.0	164.0	165.0					12																	39079337		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39079337A>G	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1226T>C	12.37:g.39079337A>G	ENSP00000329748:p.Leu409Pro					CPNE8_ENST00000538596.2_Missense_Mutation_p.L78P|CPNE8_ENST00000360449.3_Missense_Mutation_p.L397P	p.L409P	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			16	1322	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	409			VWFA.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.1226T>C	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241605	0.79912	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.31510	1.49;1.49;1.49	4.71	4.71	0.59529	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68191	-0.5474	10	0.87932	D	0	-11.086	13.8767	0.63657	1.0:0.0:0.0:0.0	.	409	Q86YQ8	CPNE8_HUMAN	P	409;78;397	ENSP00000329748:L409P;ENSP00000439237:L78P;ENSP00000353633:L397P	ENSP00000329748:L409P	L	-	2	0	CPNE8	37365604	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	8.555000	0.90693	2.062000	0.61559	0.533000	0.62120	CTA		0.428	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		3	84	0	0	0	1	0	3	84				
ESRP1	54845	broad.mit.edu	37	8	95690546	95690546	+	Silent	SNP	G	G	A	rs368022443		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr8:95690546G>A	ENST00000433389.2	+	13	1957	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	ESRP1_ENST00000358397.5_Silent_p.A585A|ESRP1_ENST00000454170.2_Silent_p.A589A|ESRP1_ENST00000423620.2_Silent_p.A585A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	589					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CCTCCACAGCGTACTACCCAG	0.512																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1765-1767)gcG>gcA		epithelial splicing regulatory protein 1		G	,,,,	0,4112		0,0,2056	95.0	91.0	93.0		1755,1767,1755,1755,1767	-10.7	0.0	8		93	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESRP1	NM_001034915.2,NM_001122825.1,NM_001122826.1,NM_001122827.1,NM_017697.3	,,,,	0,1,6270	AA,AG,GG		0.0119,0.0,0.0080	,,,,	585/678,589/609,585/660,585/605,589/682	95690546	1,12541	2056	4215	6271	SO:0001819	synonymous_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95690546G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1767G>A	8.37:g.95690546G>A						ESRP1_ENST00000358397.5_Silent_p.A585A|ESRP1_ENST00000423620.2_Silent_p.A585A|ESRP1_ENST00000454170.2_Silent_p.A589A	p.A589A	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			13	1957	+			589					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	c.1767G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056817	0.08339	0.0	1.19E-4	ENSG00000104413	ENST00000519505	.	.	.	5.36	-10.7	0.00240	.	.	.	.	.	T	0.48003	0.1476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73075	-0.4097	4	.	.	.	-13.3779	9.3933	0.38386	0.1781:0.5206:0.2498:0.0515	.	.	.	.	I	455	.	.	V	+	1	0	ESRP1	95759722	0.000000	0.05858	0.000000	0.03702	0.640000	0.38277	-5.987000	0.00087	-6.213000	0.00005	-0.345000	0.07892	GTA		0.512	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		4	60	0	0	0	1	0	4	60				
JAKMIP3	282973	broad.mit.edu	37	10	133967303	133967303	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:133967303G>A	ENST00000298622.4	+	17	2246	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	703						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCGCTGCAGCGGAAGATGGTG	0.637																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2107-2109)cGg>cAg		Janus kinase and microtubule interacting protein 3							121.0	128.0	126.0					10																	133967303		2203	4300	6503	SO:0001583	missense	282973							g.chr10:133967303G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2108G>A	10.37:g.133967303G>A	ENSP00000298622:p.Arg703Gln					JAKMIP3_ENST00000477275.1_3'UTR	p.R703Q	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	17	2246	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.2108G>A	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846330	0.16963	.	.	ENSG00000188385	ENST00000298622	T	0.19394	2.15	4.76	2.59	0.31030	.	.	.	.	.	T	0.02649	0.0080	N	0.00308	-1.67	0.28129	N	0.930264	P;B	0.43607	0.812;0.002	B;B	0.28385	0.089;0.001	T	0.12167	-1.0558	9	0.02654	T	1	.	4.1442	0.10209	0.5697:0.0:0.4303:0.0	.	140;703	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	Q	703	ENSP00000298622:R703Q	ENSP00000298622:R703Q	R	+	2	0	JAKMIP3	133817293	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.925000	0.70062	0.991000	0.38814	0.585000	0.79938	CGG		0.637	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		6	160	0	0	0	1	0	6	160				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	52	0	0	0	1	0	4	52				
APOB	338	broad.mit.edu	37	2	21236228	21236228	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr2:21236228A>C	ENST00000233242.1	-	25	4147	c.4020T>G	c.(4018-4020)ttT>ttG	p.F1340L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1340					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGAATGGTAAAAGTAGGGA	0.488																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4018-4020)ttT>ttG		apolipoprotein B	Atorvastatin(DB01076)						153.0	147.0	149.0					2																	21236228		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236228A>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4020T>G	2.37:g.21236228A>C	ENSP00000233242:p.Phe1340Leu						p.F1340L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4147	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1340					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4020T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758047	0.31137	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00966	5.49	5.32	-2.18	0.07037	.	0.000000	0.64402	D	0.000006	T	0.00998	0.0033	L	0.46885	1.475	0.80722	D	1	P	0.47962	0.903	B	0.41236	0.351	T	0.66799	-0.5832	10	0.52906	T	0.07	.	8.4623	0.32936	0.4117:0.1221:0.4662:0.0	.	1340	P04114	APOB_HUMAN	L	1340	ENSP00000233242:F1340L	ENSP00000233242:F1340L	F	-	3	2	APOB	21089733	0.960000	0.32886	0.811000	0.32455	0.233000	0.25261	0.058000	0.14301	-0.182000	0.10602	-0.376000	0.06991	TTT		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	106	0	0	0	1	0	4	106				
FAT3	120114	broad.mit.edu	37	11	92087645	92087645	+	Missense_Mutation	SNP	G	G	T	rs267603242		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr11:92087645G>T	ENST00000298047.6	+	1	2384	c.2367G>T	c.(2365-2367)atG>atT	p.M789I	FAT3_ENST00000409404.2_Missense_Mutation_p.M789I|FAT3_ENST00000525166.1_Missense_Mutation_p.M639I|FAT3_ENST00000541502.1_Missense_Mutation_p.M789I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	789	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTATGCCCATGGATCGAGAAC	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2365-2367)atG>atT		FAT atypical cadherin 3							107.0	103.0	104.0					11																	92087645		1950	4142	6092	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087645G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2367G>T	11.37:g.92087645G>T	ENSP00000298047:p.Met789Ile	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.M789I|FAT3_ENST00000409404.2_Missense_Mutation_p.M789I|FAT3_ENST00000525166.1_Missense_Mutation_p.M639I	p.M789I			Q8TDW7	FAT3_HUMAN			1	2384	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	789			Cadherin 7.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2367G>T		.	.	.	.	.	.	.	.	.	.	G	10.64	1.407205	0.25378	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.71	5.71	0.89125	.	.	.	.	.	T	0.28896	0.0717	N	0.04787	-0.16	0.38884	D	0.956974	B	0.20459	0.045	B	0.17722	0.019	T	0.14144	-1.0483	9	0.41790	T	0.15	.	13.7707	0.63023	0.0:0.0:0.8467:0.1533	.	789	Q8TDW7-3	.	I	789;789;789;639	ENSP00000298047:M789I;ENSP00000387040:M789I;ENSP00000443786:M789I;ENSP00000432586:M639I	ENSP00000298047:M789I	M	+	3	0	FAT3	91727293	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.136000	0.50554	2.700000	0.92200	0.467000	0.42956	ATG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	48	1	0	0.00909568	1	0.00958734	3	48				
EVPL	2125	broad.mit.edu	37	17	74005011	74005011	+	Silent	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr17:74005011G>A	ENST00000301607.3	-	22	4528	c.4275C>T	c.(4273-4275)ttC>ttT	p.F1425F	EVPL_ENST00000586740.1_Silent_p.F1447F|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1425	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCTCCTGGAAGCTGAGCA	0.692																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4273-4275)ttC>ttT		envoplakin							51.0	54.0	53.0					17																	74005011		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005011G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4275C>T	17.37:g.74005011G>A						EVPL_ENST00000586740.1_Silent_p.F1447F	p.F1425F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4528	-			1425			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.4275C>T	CCDS11737.1																																																																																				0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	119	0	0	0	1	0	5	119				
PPP6R3	55291	broad.mit.edu	37	11	68370842	68370842	+	Missense_Mutation	SNP	G	G	A	rs201280471		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr11:68370842G>A	ENST00000393800.2	+	22	2586	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N	PPP6R3_ENST00000524845.1_Missense_Mutation_p.D749N|PPP6R3_ENST00000393799.2_Missense_Mutation_p.D778N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D698N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D546N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D743N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D698N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D778N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D732N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D772N	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	778					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGCCAGCTCTGACGGAGAGGA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19675	0.0		0.001	False		,,,				2504	0.0					ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2332-2334)Gac>Aac		protein phosphatase 6, regulatory subunit 3							123.0	95.0	105.0					11																	68370842		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68370842G>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2332G>A	11.37:g.68370842G>A	ENSP00000377389:p.Asp778Asn					PPP6R3_ENST00000534534.1_Missense_Mutation_p.D546N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D743N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D772N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D749N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D778N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D698N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D698N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D778N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D732N	p.D778N			Q5H9R7	PP6R3_HUMAN			22	2599	+			778					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2332G>A	CCDS53672.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.67	3.674538	0.67928	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.18	5.18	0.71444	.	0.222162	0.45126	D	0.000387	T	0.45796	0.1360	N	0.22421	0.69	0.49582	D	0.999809	P;P;P;P;P;P;P;P	0.50443	0.883;0.9;0.877;0.865;0.551;0.615;0.935;0.929	B;B;P;P;P;B;P;P	0.50791	0.4;0.436;0.604;0.604;0.466;0.334;0.65;0.466	T	0.27157	-1.0082	10	0.23891	T	0.37	.	18.7143	0.91670	0.0:0.0:1.0:0.0	.	461;546;698;749;772;778;778;698	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	N	778;778;546;749;732;772;778;698;698;743;485	ENSP00000377388:D778N;ENSP00000377389:D778N;ENSP00000434429:D546N;ENSP00000431415:D749N;ENSP00000265637:D732N;ENSP00000433058:D772N;ENSP00000377390:D778N;ENSP00000265636:D698N;ENSP00000437329:D698N;ENSP00000433565:D743N;ENSP00000436209:D485N	ENSP00000265636:D698N	D	+	1	0	PPP6R3	68127418	1.000000	0.71417	0.922000	0.36590	0.937000	0.57800	6.989000	0.76219	2.422000	0.82143	0.655000	0.94253	GAC		0.537	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		6	58	0	0	0	1	0	6	58				
BAG6	7917	broad.mit.edu	37	6	31609355	31609355	+	Silent	SNP	T	T	C			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr6:31609355T>C	ENST00000375964.6	-	17	2743	c.2430A>G	c.(2428-2430)acA>acG	p.T810T	BAG6_ENST00000362049.6_Silent_p.T804T|BAG6_ENST00000439687.2_Silent_p.T678T|BAG6_ENST00000375976.4_Silent_p.T804T|BAG6_ENST00000211379.5_Silent_p.T804T|BAG6_ENST00000404765.2_Silent_p.T840T|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	810					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCGTGATCAATGTGTGGGTTG	0.527																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2518-2520)acA>acG		BCL2-associated athanogene 6							117.0	122.0	120.0					6																	31609355		2203	4300	6503	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31609355T>C	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2430A>G	6.37:g.31609355T>C						BAG6_ENST00000375964.6_Silent_p.T810T|BAG6_ENST00000211379.5_Silent_p.T804T|BAG6_ENST00000439687.2_Silent_p.T678T|BAG6_ENST00000375976.4_Silent_p.T804T|BAG6_ENST00000362049.6_Silent_p.T804T	p.T840T			P46379	BAG6_HUMAN			18	2809	-			810					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.2520A>G	CCDS47403.1																																																																																				0.527	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		9	137	0	0	0	1	0	9	137				
ZNF532	55205	broad.mit.edu	37	18	56586604	56586604	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr18:56586604G>A	ENST00000336078.4	+	4	1861	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF532_ENST00000589288.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R362H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCCAAAGTCCGCATAAAAACC	0.507																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(1084-1086)cGc>cAc		zinc finger protein 532							60.0	62.0	61.0					18																	56586604		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586604G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1085G>A	18.37:g.56586604G>A	ENSP00000338217:p.Arg362His					ZNF532_ENST00000591808.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R362H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R362H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R362H	p.R362H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1861	+			362					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.1085G>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	g	14.50	2.552595	0.45487	.	.	ENSG00000074657	ENST00000336078	T	0.14516	2.5	4.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	M	0.82823	2.61	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.48559	-0.9025	10	0.87932	D	0	-14.1362	15.2127	0.73238	0.0:0.1413:0.8587:0.0	.	362	Q9HCE3	ZN532_HUMAN	H	362	ENSP00000338217:R362H	ENSP00000338217:R362H	R	+	2	0	ZNF532	54737584	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	7.968000	0.87980	1.114000	0.41781	-0.242000	0.12053	CGC		0.507	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		4	67	0	0	0	1	0	4	67				
KIF4B	285643	broad.mit.edu	37	5	154394712	154394712	+	Silent	SNP	C	C	T	rs557606097	byFrequency	TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr5:154394712C>T	ENST00000435029.4	+	1	1453	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	431					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAAACTGAACGCCAAGCTAG	0.448													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22046	0.0		0.0	False		,,,				2504	0.0					ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1291-1293)aaC>aaT		kinesin family member 4B							108.0	110.0	109.0					5																	154394712		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394712C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1293C>T	5.37:g.154394712C>T							p.N431N	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1453	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	431						Silent	SNP	ENST00000435029.4	37	c.1293C>T	CCDS47324.1																																																																																				0.448	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			6	97	0	0	0	1	0	6	97				
RAB7A	7879	broad.mit.edu	37	3	128526443	128526443	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr3:128526443G>C	ENST00000265062.3	+	5	703	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	RAB7A_ENST00000482525.1_Missense_Mutation_p.E106Q|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	153					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCTACTTTGAGACCAGTGC	0.552																																						ENST00000265062.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(457-459)Gag>Cag		RAB7A, member RAS oncogene family							178.0	162.0	167.0					3																	128526443		2203	4300	6503	SO:0001583	missense	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128526443G>C	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.457G>C	3.37:g.128526443G>C	ENSP00000265062:p.Glu153Gln					RAB7A_ENST00000482525.1_Missense_Mutation_p.E106Q|RAB7A_ENST00000485280.1_Intron	p.E153Q	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	5	703	+			153					A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	c.457G>C	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392984	0.83011	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000490093;ENST00000483906	D;D;D;D	0.83250	-1.67;-1.7;-1.7;-1.7	5.06	4.19	0.49359	Small GTP-binding protein domain (1);	.	.	.	.	D	0.91529	0.7325	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.964;0.994	D	0.93020	0.6439	9	0.87932	D	0	-16.6794	14.0955	0.65019	0.0728:0.0:0.9272:0.0	.	106;153	C9J8S3;P51149	.;RAB7A_HUMAN	Q	153;106;112;80	ENSP00000265062:E153Q;ENSP00000417668:E106Q;ENSP00000418955:E112Q;ENSP00000417155:E80Q	ENSP00000265062:E153Q	E	+	1	0	RAB7A	130009133	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	8.735000	0.91549	1.493000	0.48517	-0.157000	0.13467	GAG		0.552	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			9	115	0	0	0	1	0	9	115				
SLC45A2	51151	broad.mit.edu	37	5	33947385	33947385	+	Silent	SNP	G	G	A	rs533032986	byFrequency	TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr5:33947385G>A	ENST00000296589.4	-	6	1397	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	SLC45A2_ENST00000382102.3_Silent_p.L417L|SLC45A2_ENST00000342059.3_Silent_p.L358L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	417					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(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTCGGGAAGAGCCCAATAA	0.483																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1249-1251)ctC>ctT		solute carrier family 45, member 2							155.0	156.0	156.0					5																	33947385		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947385G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1251C>T	5.37:g.33947385G>A						SLC45A2_ENST00000342059.3_Silent_p.L358L|SLC45A2_ENST00000296589.4_Silent_p.L417L	p.L417L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			6	1308	-			417					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1251C>T	CCDS3901.1																																																																																				0.483	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		10	127	0	0	0	1	0	10	127				
ATXN1	6310	broad.mit.edu	37	6	16327909	16327909	+	Missense_Mutation	SNP	A	A	C	rs59310777	byFrequency	TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr6:16327909A>C	ENST00000244769.4	-	8	1569	c.633T>G	c.(631-633)caT>caG	p.H211Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgatgctgatgct	0.672													A|||	1334	0.266374	0.2897	0.2161	5008	,	,		12493	0.3879		0.0964	False		,,,				2504	0.32					ENST00000244769.4																			1	Deletion - In frame(1)	p.H209_H211delHQH(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(631-633)caT>caG		ataxin 1							4.0	7.0	6.0					6																	16327909		1575	3495	5070	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327909A>C	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.633T>G	6.37:g.16327909A>C	ENSP00000244769:p.His211Gln					ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q	p.H211Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1569	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	211	H -> HQ (in Ref. 1; CAA55793).		Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.633T>G	CCDS34342.1	369	0.16895604395604397	105	0.21341463414634146	59	0.16298342541436464	150	0.26223776223776224	55	0.07255936675461741	A	5.976	0.364085	0.11296	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50813	0.73;0.73	.	.	.	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.31223	-0.9951	4	0.15952	T	0.53	.	.	.	.	rs59310777	211	P54253	ATX1_HUMAN	Q	211	ENSP00000244769:H211Q;ENSP00000416360:H211Q	ENSP00000244769:H211Q	H	-	3	2	ATXN1	16435888	0.694000	0.27738	0.023000	0.16930	0.066000	0.16364	1.537000	0.36083	0.000000	0.14550	0.000000	0.15137	CAT		0.672	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	24	0	0	0	1	0	3	24				
PTPN18	26469	broad.mit.edu	37	2	131116497	131116497	+	Missense_Mutation	SNP	G	G	A	rs374051599		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr2:131116497G>A	ENST00000175756.5	+	2	252	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	51	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CACCGTGGCCGGCAGTCGGCC	0.637																																						ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(151-153)Ggc>Agc		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							87.0	86.0	86.0					2																	131116497		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116497G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.151G>A	2.37:g.131116497G>A	ENSP00000175756:p.Gly51Ser					PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.G51S	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			2	252	+	Colorectal(110;0.1)		51			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.151G>A	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041932	0.75732	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.11063	2.81	3.55	3.55	0.40652	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.34853	N	0.003629	T	0.18045	0.0433	L	0.33668	1.02	0.27128	N	0.961958	D;D	0.76494	0.997;0.999	P;D	0.64877	0.694;0.93	T	0.01378	-1.1370	10	0.45353	T	0.12	.	10.9271	0.47197	0.0:0.0:1.0:0.0	.	51;51	E7EMB8;Q99952	.;PTN18_HUMAN	S	51	ENSP00000175756:G51S	ENSP00000175756:G51S	G	+	1	0	PTPN18	130832967	0.438000	0.25602	0.274000	0.24659	0.006000	0.05464	4.522000	0.60539	2.280000	0.76307	0.561000	0.74099	GGC		0.637	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			8	100	0	0	0	1	0	8	100				
OR5K1	26339	broad.mit.edu	37	3	98188907	98188907	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr3:98188907G>T	ENST00000332650.5	+	1	584	c.487G>T	c.(487-489)Gta>Tta	p.V163L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTAGGGCTTGTATTTAGGTT	0.408																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(487-489)Gta>Tta		olfactory receptor, family 5, subfamily K, member 1							223.0	225.0	225.0					3																	98188907		2202	4300	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188907G>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.487G>T	3.37:g.98188907G>T	ENSP00000373193:p.Val163Leu						p.V163L	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	584	+			163					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.487G>T	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.494797	0.00159	.	.	ENSG00000232382	ENST00000332650	T	0.00084	8.75	5.33	-8.95	0.00765	GPCR, rhodopsin-like superfamily (1);	0.513303	0.14385	N	0.322885	T	0.00039	0.0001	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30995	-0.9959	10	0.18276	T	0.48	-2.4593	1.5107	0.02495	0.215:0.1372:0.19:0.4578	.	163	Q8NHB7	OR5K1_HUMAN	L	163	ENSP00000373193:V163L	ENSP00000373193:V163L	V	+	1	0	OR5K1	99671597	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.812000	0.01726	-1.323000	0.02275	-1.565000	0.00878	GTA		0.408	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			4	120	1	0	4.096e-09	1	4.56411e-09	4	120				
SYNE2	23224	broad.mit.edu	37	14	64612904	64612904	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr14:64612904G>C	ENST00000344113.4	+	84	15814	c.15602G>C	c.(15601-15603)aGt>aCt	p.S5201T	SYNE2_ENST00000358025.3_Missense_Mutation_p.S5201T|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1835T|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1586T|SYNE2_ENST00000357395.3_Missense_Mutation_p.S1586T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5118T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5201					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTGAAAGTGTGATCTCA	0.478																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4756-4758)aGt>aCt		spectrin repeat containing, nuclear envelope 2							66.0	71.0	69.0					14																	64612904		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64612904G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15602G>C	14.37:g.64612904G>C	ENSP00000341781:p.Ser5201Thr					SYNE2_ENST00000394768.2_Missense_Mutation_p.S1586T|SYNE2_ENST00000358025.3_Missense_Mutation_p.S5201T|SYNE2_ENST00000344113.4_Missense_Mutation_p.S5201T|SYNE2_ENST00000554584.1_Missense_Mutation_p.S5118T|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1835T|ESR2_ENST00000542956.1_Intron	p.S1586T			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	85	15901	+			5201					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4757G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559205	0.65538	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;3.83;1.25	5.47	2.64	0.31445	.	0.300114	0.28301	N	0.015849	T	0.43233	0.1238	M	0.64997	1.995	0.80722	D	1	P;P;P;D	0.53312	0.855;0.493;0.774;0.959	P;B;B;P	0.52109	0.69;0.116;0.271;0.658	T	0.19844	-1.0293	10	0.45353	T	0.12	.	8.9774	0.35944	0.1358:0.1225:0.7416:0.0	.	1586;5118;5201;5201	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	T	5201;1586;5201;5118;5124;1835;1586	ENSP00000350719:S5201T;ENSP00000349969:S1586T;ENSP00000341781:S5201T;ENSP00000452570:S5118T;ENSP00000450831:S1835T;ENSP00000378249:S1586T	ENSP00000261678:S5124T	S	+	2	0	SYNE2	63682657	1.000000	0.71417	0.444000	0.26895	0.963000	0.63663	3.907000	0.56348	0.272000	0.22027	0.655000	0.94253	AGT		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	43	0	0	0	1	0	6	43				
IL17RB	55540	broad.mit.edu	37	3	53883708	53883708	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr3:53883708C>A	ENST00000288167.3	+	3	121	c.112C>A	c.(112-114)Cat>Aat	p.H38N		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	38					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GATGCTACAACATGATCTAAT	0.488																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(112-114)Cat>Aat		interleukin 17 receptor B							136.0	133.0	134.0					3																	53883708		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53883708C>A	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.112C>A	3.37:g.53883708C>A	ENSP00000288167:p.His38Asn						p.H38N	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	121	+			38					Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.112C>A	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	C	2.679	-0.275707	0.05679	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.22539	1.95;1.95	5.21	4.24	0.50183	.	0.105617	0.42420	D	0.000714	T	0.19644	0.0472	L	0.50919	1.6	0.09310	N	1	B	0.32071	0.355	B	0.33121	0.158	T	0.11518	-1.0584	10	0.25106	T	0.35	-18.8905	11.7146	0.51645	0.1885:0.8115:0.0:0.0	.	38	Q9NRM6	I17RB_HUMAN	N	38	ENSP00000288167:H38N;ENSP00000418638:H38N	ENSP00000288167:H38N	H	+	1	0	IL17RB	53858748	0.394000	0.25246	0.072000	0.20136	0.005000	0.04900	2.048000	0.41278	2.419000	0.82065	0.561000	0.74099	CAT		0.488	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		4	101	1	0	0.00024832	1	0.000269013	4	101				
MAGEC1	9947	broad.mit.edu	37	X	140995349	140995349	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chrX:140995349C>A	ENST00000285879.4	+	4	2445	c.2159C>A	c.(2158-2160)tCc>tAc	p.S720Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	720										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAGGACTCCCTCTCTCCT	0.537										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2158-2160)tCc>tAc		melanoma antigen family C, 1							89.0	95.0	93.0					X																	140995349		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995349C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2159C>A	X.37:g.140995349C>A	ENSP00000285879:p.Ser720Tyr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S720Y	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2445	+	Acute lymphoblastic leukemia(192;6.56e-05)		720					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2159C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	6.840	0.524181	0.13066	.	.	ENSG00000155495	ENST00000285879	T	0.02812	4.15	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01454	0.0047	N	0.14661	0.345	0.09310	N	0.999993	P	0.37233	0.588	B	0.21546	0.035	T	0.43988	-0.9357	9	0.66056	D	0.02	.	5.5629	0.17154	0.0:0.7517:0.0:0.2483	.	720	O60732	MAGC1_HUMAN	Y	720	ENSP00000285879:S720Y	ENSP00000285879:S720Y	S	+	2	0	MAGEC1	140823015	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	0.342000	0.19926	-1.095000	0.03050	-1.093000	0.02169	TCC		0.537	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	77	1	0	0.0293803	1	0.0301535	7	77				
ARHGAP1	392	broad.mit.edu	37	11	46703669	46703669	+	Silent	SNP	G	G	A	rs564406586		TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr11:46703669G>A	ENST00000311956.4	-	5	478	c.381C>T	c.(379-381)caC>caT	p.H127H		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	127	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTCAGGCCGTGGTGCAGAT	0.607													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18293	0.0		0.0	False		,,,				2504	0.0					ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(379-381)caC>caT		Rho GTPase activating protein 1							242.0	184.0	204.0					11																	46703669		2201	4299	6500	SO:0001819	synonymous_variant	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46703669G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.381C>T	11.37:g.46703669G>A							p.H127H	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	5	478	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	127			CRAL-TRIO.		D3DQQ6	Silent	SNP	ENST00000311956.4	37	c.381C>T	CCDS7922.1																																																																																				0.607	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		6	135	0	0	0	1	0	6	135				
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479|rs150497047|rs397951667	byFrequency	TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)ttcfs	p.F18fs				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTCCCCTGGCTTCTTTGCCCTC	0.515														2957	0.590455	0.5499	0.6398	5008	,	,		5805	0.626		0.5865	False		,,,				2504	0.5777					ENST00000460972.3																			0											c.(52-54)cttfs		olfactory receptor, family 2, subfamily T, member 7																																				SO:0001589	frameshift_variant	81458							g.chr1:248604559_248604560insTC			1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.53_54dupTC	1.37:g.248604560_248604561dupTC	ENSP00000475521:p.Phe18fs						p.L18fs							1	52_53	+									Frame_Shift_Ins	INS	ENST00000460972.3	37	c.52_53insTC																																																																																					0.515	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000097345.3			3	2						3	2	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs376717445|rs199682553|rs112820043|rs11197776	byFrequency	TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr10:118396277_118396278insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													-|-|T|insertion	732	0.146166	0.0136	0.1686	5008	,	,		20647	0.3413		0.1252	False		,,,				2504	0.1299					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277_118396278insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277_118396278insT						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.421	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		3	5						3	5	---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2983952	2983952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K0-01B-21D-A31L-08	TCGA-CV-A6K0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fdb3e5f-ca6a-416b-a1d4-96e3a41f2f8e	1c720c94-81ab-428f-916b-db6bb48c969f	g.chr16:2983952delC	ENST00000253928.9	+	6	1890	c.1485delC	c.(1483-1485)cgcfs	p.R495fs	FLYWCH1_ENST00000399667.2_Frame_Shift_Del_p.R495fs|FLYWCH1_ENST00000416288.2_Frame_Shift_Del_p.R494fs			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	495						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGGAGAAACGCCCCAACACGG	0.716																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1483-1485)cgfs		FLYWCH-type zinc finger 1							6.0	8.0	7.0					16																	2983952		1929	4049	5978	SO:0001589	frameshift_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983952delC	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1485delC	16.37:g.2983952delC	ENSP00000253928:p.Arg495fs					FLYWCH1_ENST00000253928.9_Frame_Shift_Del_p.R495fs|FLYWCH1_ENST00000416288.2_Frame_Shift_Del_p.R494fs	p.R495fs			Q4VC44	FWCH1_HUMAN			6	1848	+			495					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Frame_Shift_Del	DEL	ENST00000253928.9	37	c.1485delC																																																																																					0.716	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		2	4						2	4	---	---	---	---
