#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
MAP2K7	5609	broad.mit.edu	37	19	7970733	7970733	+	Intron	SNP	A	A	G	rs562064143		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:7970733A>G	ENST00000397979.3	+	1	178				MAP2K7_ENST00000397981.3_Intron|MAP2K7_ENST00000545011.1_Intron|AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000397983.3_Silent_p.Q55Q	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCCCGTCCCAACGAGCAGGTA	0.532																																						ENST00000397983.3																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(163-165)caA>caG		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						384.0	375.0	378.0					19																	7970733		876	1991	2867	SO:0001627	intron_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7970733A>G	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.124+1780A>G	19.37:g.7970733A>G						MAP2K7_ENST00000397981.3_Intron|MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000545011.1_Intron	p.Q55Q			O14733	MP2K7_HUMAN			2	225	+			41					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.165A>G	CCDS42491.1																																																																																				0.532	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			27	107	0	0	0	1	0	27	107				
LUZP2	338645	broad.mit.edu	37	11	25071608	25071608	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:25071608A>C	ENST00000336930.6	+	10	856	c.790A>C	c.(790-792)Aat>Cat	p.N264H	LUZP2_ENST00000533227.1_Missense_Mutation_p.N178H			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	264						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTGGAAACAATGAGAGCTC	0.353																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(532-534)Aat>Cat		leucine zipper protein 2							92.0	91.0	92.0					11																	25071608		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25071608A>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.790A>C	11.37:g.25071608A>C	ENSP00000336817:p.Asn264His					LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H	p.N178H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			10	819	+			264			Leucine-zipper.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.532A>C	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693625	0.30052	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.43294	1.56;0.95	5.24	2.8	0.32819	.	0.803739	0.11408	N	0.567081	T	0.21674	0.0522	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.20605	-1.0270	10	0.37606	T	0.19	-3.1886	9.5703	0.39425	0.657:0.343:0.0:0.0	.	178;264	E9PN53;Q86TE4	.;LUZP2_HUMAN	H	264;178	ENSP00000336817:N264H;ENSP00000432952:N178H	ENSP00000336817:N264H	N	+	1	0	LUZP2	25028184	0.001000	0.12720	0.000000	0.03702	0.632000	0.37999	0.873000	0.28052	0.341000	0.23771	0.528000	0.53228	AAT		0.353	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		4	45	0	0	0	1	0	4	45				
PASD1	139135	broad.mit.edu	37	X	150840968	150840968	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chrX:150840968A>G	ENST00000370357.4	+	14	1996	c.1751A>G	c.(1750-1752)cAg>cGg	p.Q584R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	584						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGTGCAGATATGCCTG	0.532																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1750-1752)cAg>cGg		PAS domain containing 1							182.0	129.0	147.0					X																	150840968		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840968A>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1751A>G	X.37:g.150840968A>G	ENSP00000359382:p.Gln584Arg						p.Q584R	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			14	1996	+	Acute lymphoblastic leukemia(192;6.56e-05)		584					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1751A>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192541	0.21954	.	.	ENSG00000166049	ENST00000370357	T	0.36699	1.24	2.63	1.45	0.22620	.	.	.	.	.	T	0.37433	0.1003	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.12578	-1.0542	9	0.48119	T	0.1	.	3.9284	0.09273	0.8176:0.0:0.1824:0.0	.	584	Q8IV76	PASD1_HUMAN	R	584	ENSP00000359382:Q584R	ENSP00000359382:Q584R	Q	+	2	0	PASD1	150591624	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.189000	0.09629	0.319000	0.23209	0.422000	0.28245	CAG		0.532	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		12	17	0	0	0	1	0	12	17				
NYNRIN	57523	broad.mit.edu	37	14	24884232	24884232	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr14:24884232G>A	ENST00000382554.3	+	9	3595	c.3277G>A	c.(3277-3279)Gca>Aca	p.A1093T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1093					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAACTTCACCGCACTCTCCTT	0.617																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3277-3279)Gca>Aca		NYN domain and retroviral integrase containing							75.0	81.0	79.0					14																	24884232		2058	4211	6269	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884232G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3277G>A	14.37:g.24884232G>A	ENSP00000371994:p.Ala1093Thr						p.A1093T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3595	+			1093					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3277G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291165	0.23564	.	.	ENSG00000205978	ENST00000382554	T	0.42900	0.96	4.45	3.53	0.40419	.	.	.	.	.	T	0.35248	0.0925	M	0.61703	1.905	0.09310	N	1	P	0.40083	0.702	B	0.29663	0.105	T	0.28808	-1.0032	9	0.72032	D	0.01	.	9.3615	0.38199	0.0:0.0:0.7867:0.2133	.	1093	Q9P2P1	NYNRI_HUMAN	T	1093	ENSP00000371994:A1093T	ENSP00000371994:A1093T	A	+	1	0	NYNRIN	23954072	0.977000	0.34250	0.010000	0.14722	0.931000	0.56810	3.062000	0.49971	1.038000	0.40049	0.561000	0.74099	GCA		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			9	41	0	0	0	1	0	9	41				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	64	0	0	0	1	0	6	64				
RAG1	5896	broad.mit.edu	37	11	36594954	36594954	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:36594954C>T	ENST00000299440.5	+	2	212	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	34	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TAAGCTGTTCCGGGTGAGATC	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(100-102)Cgg>Tgg		recombination activating gene 1							50.0	55.0	53.0					11																	36594954		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36594954C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.100C>T	11.37:g.36594954C>T	ENSP00000299440:p.Arg34Trp						p.R34W	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	212	+	all_lung(20;0.226)	all_hematologic(20;0.107)	34			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.100C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975790	0.53720	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.75260	-0.92;-0.91	6.14	5.02	0.67125	.	0.101971	0.64402	D	0.000005	D	0.84624	0.5513	M	0.83012	2.62	0.48511	D	0.99966	D	0.76494	0.999	P	0.60541	0.876	D	0.86389	0.1734	10	0.87932	D	0	.	12.4113	0.55469	0.7216:0.2784:0.0:0.0	.	34	P15918	RAG1_HUMAN	W	34	ENSP00000434610:R34W;ENSP00000299440:R34W	ENSP00000299440:R34W	R	+	1	2	RAG1	36551530	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.422000	0.52749	1.159000	0.42565	-0.271000	0.10264	CGG		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	38	0	0	0	1	0	8	38				
CLPTM1	1209	broad.mit.edu	37	19	45494556	45494556	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:45494556A>G	ENST00000337392.5	+	12	1630	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000541297.2_Missense_Mutation_p.S480G	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	494				S -> G (in Ref. 3; BAG52034). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCCGTCTACAGTCTTCTGTA	0.637																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1438-1440)Agt>Ggt		cleft lip and palate associated transmembrane protein 1							242.0	209.0	220.0					19																	45494556		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494556A>G	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1480A>G	19.37:g.45494556A>G	ENSP00000336994:p.Ser494Gly					CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G|CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G	p.S480G			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	12	1903	+		all_neural(266;0.224)|Ovarian(192;0.231)	494					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1438A>G	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718971	0.89205	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	H	0.94345	3.525	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.72338	0.949;0.977	D	0.89664	0.3879	9	0.87932	D	0	-36.235	13.6308	0.62193	1.0:0.0:0.0:0.0	.	480;494	F5H8J3;O96005	.;CLPT1_HUMAN	G	392;480;494;494	.	ENSP00000336994:S494G	S	+	1	0	CLPTM1	50186396	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.546000	0.90661	2.109000	0.64355	0.529000	0.55759	AGT		0.637	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		25	118	0	0	0	1	0	25	118				
CP	1356	broad.mit.edu	37	3	148903046	148903046	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:148903046C>T	ENST00000264613.6	-	12	2527	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	755	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAAATGATGCAGCTCCTTTT	0.428																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2263-2265)ctG>ctA		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						190.0	192.0	191.0					3																	148903046		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903046C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2265G>A	3.37:g.148903046C>T						CP_ENST00000462336.1_5'UTR	p.L755L	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2527	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	755			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2265G>A	CCDS3141.1																																																																																				0.428	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		4	152	0	0	0	1	0	4	152				
SIGLEC1	6614	broad.mit.edu	37	20	3673297	3673297	+	Silent	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:3673297G>A	ENST00000344754.4	-	15	3900	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	SIGLEC1_ENST00000202578.4_Silent_p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1301	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTCCTGCAGCCAACGACCG	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3901-3903)Ctg>Ttg		sialic acid binding Ig-like lectin 1, sialoadhesin							47.0	47.0	47.0					20																	3673297		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673297G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3901C>T	20.37:g.3673297G>A						SIGLEC1_ENST00000202578.4_Silent_p.L1301L	p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3900	-			1301			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3901C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459254	0.04508	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.71	4.74	0.60224	.	.	.	.	.	T	0.57021	0.2025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	7.2786	0.26297	0.0843:0.0:0.7454:0.1703	.	.	.	.	V	114	.	.	A	-	2	0	SIGLEC1	3621297	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	1.451000	0.35145	1.376000	0.46267	0.655000	0.94253	GCT		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	12	0	0	0	1	0	3	12				
USP10	9100	broad.mit.edu	37	16	84778363	84778363	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr16:84778363C>T	ENST00000219473.7	+	4	389	c.276C>T	c.(274-276)ctC>ctT	p.L92L	USP10_ENST00000570191.1_Silent_p.L96L|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	92	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AATTTATTCTCGGTTGTACAG	0.498																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(274-276)ctC>ctT		ubiquitin specific peptidase 10							66.0	66.0	66.0					16																	84778363		1839	4079	5918	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778363C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.276C>T	16.37:g.84778363C>T						USP10_ENST00000570191.1_Silent_p.L96L|USP10_ENST00000562743.1_3'UTR	p.L92L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	389	+			92			Interaction with p53/TP53.		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.276C>T	CCDS45537.1																																																																																				0.498	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			9	42	0	0	0	1	0	9	42				
FLNB	2317	broad.mit.edu	37	3	58148895	58148895	+	Missense_Mutation	SNP	C	C	G	rs149638325		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:58148895C>G	ENST00000295956.4	+	43	7201	c.7036C>G	c.(7036-7038)Cgc>Ggc	p.R2346G	FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000488720.1_RNA|FLNB-AS1_ENST00000472922.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.R2322G|FLNB_ENST00000348383.5_Missense_Mutation_p.R2305G|FLNB_ENST00000490882.1_Missense_Mutation_p.R2377G|FLNB_ENST00000429972.2_Missense_Mutation_p.R2335G|FLNB_ENST00000493452.1_Missense_Mutation_p.R2153G|FLNB_ENST00000419752.2_Missense_Mutation_p.R2166G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2346	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTATGCTGTTCGCTTCATCCC	0.517																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7036-7038)Cgc>Ggc		filamin B, beta							127.0	104.0	111.0					3																	58148895		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58148895C>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7036C>G	3.37:g.58148895C>G	ENSP00000295956:p.Arg2346Gly					FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000429972.2_Missense_Mutation_p.R2335G|FLNB_ENST00000419752.2_Missense_Mutation_p.R2166G|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.R2322G|FLNB_ENST00000348383.5_Missense_Mutation_p.R2305G|FLNB_ENST00000493452.1_Missense_Mutation_p.R2153G|FLNB_ENST00000490882.1_Missense_Mutation_p.R2377G	p.R2346G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	43	7201	+			2346			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7036C>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493231	0.64186	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.39	5.39	0.77823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.047466	0.85682	D	0.000000	D	0.91981	0.7460	M	0.76727	2.345	0.80722	D	1	D;P;P;B;D;P	0.62365	0.977;0.551;0.953;0.16;0.991;0.726	P;B;D;B;D;P	0.65773	0.805;0.428;0.911;0.18;0.938;0.699	D	0.92046	0.5644	10	0.59425	D	0.04	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	2322;2377;2153;2166;2335;2346	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	2346;2377;2322;2335;2305;2153;2166	ENSP00000295956:R2346G;ENSP00000420213:R2377G;ENSP00000351339:R2322G;ENSP00000415599:R2335G;ENSP00000232447:R2305G;ENSP00000418510:R2153G;ENSP00000414532:R2166G	ENSP00000295956:R2346G	R	+	1	0	FLNB	58123935	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	4.686000	0.61700	2.689000	0.91719	0.655000	0.94253	CGC		0.517	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	27	0	0	0	1	0	5	27				
PYCARD	29108	broad.mit.edu	37	16	31213083	31213083	+	Silent	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr16:31213083G>A	ENST00000247470.9	-	3	712	c.411C>T	c.(409-411)taC>taT	p.Y137Y	PYCARD_ENST00000350605.4_Silent_p.Y118Y|C16orf98_ENST00000561916.2_5'Flank	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	137	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						GGACCTTCCCGTACAGAGCAT	0.592																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(409-411)taC>taT		PYD and CARD domain containing							87.0	78.0	81.0					16																	31213083		2197	4300	6497	SO:0001819	synonymous_variant	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213083G>A	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.411C>T	16.37:g.31213083G>A						PYCARD_ENST00000350605.4_Silent_p.Y118Y	p.Y137Y	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			3	712	-			137			CARD.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Silent	SNP	ENST00000247470.9	37	c.411C>T	CCDS10708.1																																																																																				0.592	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		3	52	0	0	0	1	0	3	52				
OR10A5	144124	broad.mit.edu	37	11	6867462	6867462	+	Silent	SNP	G	G	A	rs543931840		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:6867462G>A	ENST00000299454.4	+	1	580	c.549G>A	c.(547-549)ccG>ccA	p.P183P	OR10A5_ENST00000379831.2_Silent_p.P187P			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	183					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183P(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGACAGCCCGCCTGTGCTGA	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		23000	0.001		0.0	False		,,,				2504	0.0				Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			2	Substitution - coding silent(2)	p.P183P(2)	kidney(2)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(547-549)ccG>ccA		olfactory receptor, family 10, subfamily A, member 5							180.0	152.0	161.0					11																	6867462		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867462G>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.549G>A	11.37:g.6867462G>A						OR10A5_ENST00000379831.2_Silent_p.P187P	p.P183P			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	580	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	183					O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.549G>A	CCDS7773.1																																																																																				0.527	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		9	99	0	0	0	1	0	9	99				
GAL3ST1	9514	broad.mit.edu	37	22	30950959	30950959	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr22:30950959C>T	ENST00000402321.1	-	3	1570	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R418H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R418H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	418				R -> L (in Ref. 1; AA sequence). {ECO:0000305}.	galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGAAATCGCGAATGAACTT	0.687																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1252-1254)cGc>cAc		galactose-3-O-sulfotransferase 1							51.0	46.0	48.0					22																	30950959		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30950959C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1253G>A	22.37:g.30950959C>T	ENSP00000385735:p.Arg418His					GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R418H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R418H	p.R418H			Q99999	G3ST1_HUMAN			3	1570	-			418	R -> L (in Ref. 1; AA sequence).				Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1253G>A	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.949488	0.73787	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.73	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.49899	-0.8890	10	0.72032	D	0.01	-27.2137	15.7748	0.78204	0.1377:0.8623:0.0:0.0	.	418	Q99999	G3ST1_HUMAN	H	418	ENSP00000385825:R418H;ENSP00000385735:R418H;ENSP00000384122:R418H;ENSP00000384388:R418H;ENSP00000343234:R418H;ENSP00000385207:R418H;ENSP00000402587:R418H	ENSP00000343234:R418H	R	-	2	0	GAL3ST1	29280959	1.000000	0.71417	0.278000	0.24718	0.865000	0.49528	5.736000	0.68597	1.409000	0.46915	0.561000	0.74099	CGC		0.687	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	15	0	0	0	1	0	6	15				
SELENBP1	8991	broad.mit.edu	37	1	151337077	151337077	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:151337077G>A	ENST00000368868.5	-	12	1452	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.A496V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	454					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAAGGGCTGGGCCAAG	0.567																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(1486-1488)gCc>gTc		selenium binding protein 1							116.0	120.0	119.0					1																	151337077		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337077G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1361C>T	1.37:g.151337077G>A	ENSP00000357861:p.Ala454Val					SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V|SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V	p.A496V	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	1631	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		454					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1487C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492482	0.26774	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.86	4.86	0.63082	.	0.163511	0.53938	D	0.000059	T	0.15652	0.0377	N	0.11870	0.19	0.41902	D	0.990428	B;B;B;B	0.13594	0.005;0.004;0.004;0.008	B;B;B;B	0.20384	0.016;0.02;0.009;0.029	T	0.11518	-1.0584	9	0.22706	T	0.39	-8.9292	7.1008	0.25336	0.0922:0.1754:0.7324:0.0	.	392;307;390;454	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	V	454;392;390	.	ENSP00000357861:A454V	A	-	2	0	SELENBP1	149603701	0.067000	0.21026	0.991000	0.47740	0.821000	0.46438	0.521000	0.22893	2.264000	0.75181	0.555000	0.69702	GCC		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	80	0	0	0	1	0	4	80				
NEU2	4759	broad.mit.edu	37	2	233899065	233899065	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:233899065C>T	ENST00000233840.3	+	2	441	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	147					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ATGCGGCCATCGGCCCAGCCT	0.667																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(439-441)atC>atT		sialidase 2 (cytosolic sialidase)							47.0	50.0	49.0					2																	233899065		2203	4300	6503	SO:0001819	synonymous_variant	4759						exo-alpha-sialidase activity	g.chr2:233899065C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.441C>T	2.37:g.233899065C>T							p.I147I	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	441	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	147					Q3KNW4|Q6NTB4	Silent	SNP	ENST00000233840.3	37	c.441C>T	CCDS2501.1																																																																																				0.667	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		3	16	0	0	0	1	0	3	16				
DHX29	54505	broad.mit.edu	37	5	54558526	54558526	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:54558526C>T	ENST00000251636.5	-	24	3908	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1254						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTACTTGTGCTTTGCCTTGG	0.433																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3760-3762)Gca>Aca		DEAH (Asp-Glu-Ala-His) box polypeptide 29							184.0	176.0	179.0					5																	54558526		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54558526C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3760G>A	5.37:g.54558526C>T	ENSP00000251636:p.Ala1254Thr					RP11-506H20.1_ENST00000506435.1_RNA	p.A1254T	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			24	3908	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1254					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3760G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230284	0.79688	.	.	ENSG00000067248	ENST00000251636	T	0.03607	3.87	5.42	5.42	0.78866	Domain of unknown function DUF1605 (1);	0.047001	0.85682	D	0.000000	T	0.14700	0.0355	M	0.68317	2.08	0.58432	D	0.999996	P	0.51653	0.947	P	0.56563	0.801	T	0.00039	-1.2242	10	0.62326	D	0.03	.	19.5786	0.95455	0.0:1.0:0.0:0.0	.	1254	Q7Z478	DHX29_HUMAN	T	1254	ENSP00000251636:A1254T	ENSP00000251636:A1254T	A	-	1	0	DHX29	54594283	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.386000	0.79775	2.711000	0.92665	0.655000	0.94253	GCA		0.433	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		8	99	0	0	0	1	0	8	99				
NPAT	4863	broad.mit.edu	37	11	108032402	108032402	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:108032402C>T	ENST00000278612.8	-	17	3516	c.3411G>A	c.(3409-3411)cgG>cgA	p.R1137R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1137					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1137R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTGGTATGCCGGCTAATGG	0.383																																						ENST00000278612.8																			1	Substitution - coding silent(1)	p.R1137R(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3409-3411)cgG>cgA		nuclear protein, ataxia-telangiectasia locus							83.0	77.0	79.0					11																	108032402		1823	4075	5898	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032402C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3411G>A	11.37:g.108032402C>T							p.R1137R	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3516	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1137					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.3411G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.684198	0.00745	.	.	ENSG00000149308	ENST00000527296	.	.	.	5.55	-1.78	0.07957	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.22571	N	0.998978	.	.	.	.	.	.	T	0.39418	-0.9615	4	.	.	.	-6.4166	13.0217	0.58791	0.0:0.2324:0.0:0.7676	.	.	.	.	D	136	.	.	G	-	2	0	NPAT	107537612	0.916000	0.31088	0.427000	0.26684	0.019000	0.09904	0.065000	0.14466	-0.204000	0.10235	-0.345000	0.07892	GGC		0.383	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		3	56	0	0	0	1	0	3	56				
ESCO2	157570	broad.mit.edu	37	8	27645492	27645492	+	Silent	SNP	T	T	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr8:27645492T>C	ENST00000305188.8	+	6	1342	c.1104T>C	c.(1102-1104)agT>agC	p.S368S	ESCO2_ENST00000397418.2_Silent_p.S16S	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	368					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GAGATACAAGTAAAAAAACAA	0.383									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1102-1104)agT>agC		establishment of sister chromatid cohesion N-acetyltransferase 2							98.0	97.0	98.0					8																	27645492		2203	4300	6503	SO:0001819	synonymous_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27645492T>C	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1104T>C	8.37:g.27645492T>C						ESCO2_ENST00000397418.2_Silent_p.S16S	p.S368S	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	6	1342	+		Ovarian(32;0.000953)	368					B3KW59|Q49AP4	Silent	SNP	ENST00000305188.8	37	c.1104T>C	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	t	4.435	0.080446	0.08533	.	.	ENSG00000171320	ENST00000518262	.	.	.	5.79	-5.02	0.02982	.	.	.	.	.	T	0.50497	0.1619	.	.	.	0.40030	D	0.975521	.	.	.	.	.	.	T	0.52162	-0.8612	4	.	.	.	-8.3995	8.476	0.33014	0.0:0.3365:0.4883:0.1752	.	.	.	.	A	73	.	.	V	+	2	0	ESCO2	27701411	0.986000	0.35501	0.759000	0.31340	0.385000	0.30292	-0.102000	0.10956	-0.771000	0.04608	-0.360000	0.07572	GTA		0.383	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		3	90	0	0	0	1	0	3	90				
TBC1D15	64786	broad.mit.edu	37	12	72278651	72278651	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr12:72278651T>C	ENST00000550746.1	+	5	468	c.404T>C	c.(403-405)cTg>cCg	p.L135P	TBC1D15_ENST00000485960.2_Missense_Mutation_p.L135P|TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L143P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	135					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGACAGACCTGAAATCAATC	0.403																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(403-405)cTg>cCg		TBC1 domain family, member 15							187.0	181.0	183.0					12																	72278651		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72278651T>C	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.404T>C	12.37:g.72278651T>C	ENSP00000448182:p.Leu135Pro					TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L143P|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L135P	p.L135P	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			5	468	+			135					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.404T>C	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557830	0.86231	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.76	5.76	0.90799	Domain of unknown function DUF3548 (1);	0.000000	0.64402	D	0.000001	T	0.78717	0.4327	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.81143	-0.1067	10	0.87932	D	0	-14.3783	16.0665	0.80887	0.0:0.0:0.0:1.0	.	143;135;135	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	P	36;135;36;143;135	ENSP00000449643:L36P;ENSP00000448182:L135P;ENSP00000418091:L36P;ENSP00000318262:L143P;ENSP00000420678:L135P	ENSP00000318262:L143P	L	+	2	0	TBC1D15	70564918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.201000	0.77847	2.185000	0.69588	0.482000	0.46254	CTG		0.403	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		3	34	0	0	0	1	0	3	34				
HIST1H2BM	8342	broad.mit.edu	37	6	27783060	27783060	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:27783060G>C	ENST00000359465.4	+	1	239	c.239G>C	c.(238-240)cGc>cCc	p.R80P	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	80					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGCGTCACGCCTGGCGCAT	0.592																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(238-240)cGc>cCc		histone cluster 1, H2bm							110.0	101.0	104.0					6																	27783060		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783060G>C	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.239G>C	6.37:g.27783060G>C	ENSP00000352442:p.Arg80Pro						p.R80P	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	239	+			80					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.239G>C	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.403356	0.62288	.	.	ENSG00000196374	ENST00000359465	T	0.32272	1.46	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000013	T	0.58552	0.2130	H	0.96015	3.755	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.74506	-0.3643	10	0.87932	D	0	.	15.9934	0.80223	0.0:0.0:1.0:0.0	.	80	Q99879	H2B1M_HUMAN	P	80	ENSP00000352442:R80P	ENSP00000352442:R80P	R	+	2	0	HIST1H2BM	27891039	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	7.036000	0.76524	2.308000	0.77769	0.563000	0.77884	CGC		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		16	65	0	0	0	1	0	16	65				
HOXD8	3234	broad.mit.edu	37	2	176996330	176996330	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:176996330T>G	ENST00000313173.4	+	2	1490	c.863T>G	c.(862-864)cTg>cGg	p.L288R	HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	288					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGAAGGCCTGACAAATTAA	0.433																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(862-864)cTg>cGg		homeobox D8							35.0	43.0	41.0					2																	176996330		2203	4299	6502	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996330T>G		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.863T>G	2.37:g.176996330T>G	ENSP00000315949:p.Leu288Arg					HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R	p.L288R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1490	+			288					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.863T>G	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	t	4.977	0.181542	0.09495	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91407	-2.75;-2.84;-2.73;-2.58;-2.73	6.03	1.79	0.24919	.	0.618146	0.14464	N	0.317974	T	0.76702	0.4024	N	0.08118	0	0.09310	N	0.999999	B;B	0.20671	0.047;0.047	B;B	0.16289	0.015;0.015	T	0.61342	-0.7082	10	0.15952	T	0.53	.	7.8811	0.29623	0.1491:0.619:0.0:0.2319	.	287;288	Q8IXZ1;P13378	.;HXD8_HUMAN	R	104;288;287;184;287	ENSP00000406045:L104R;ENSP00000315949:L288R;ENSP00000437431:L287R;ENSP00000448196:L184R;ENSP00000409026:L287R	ENSP00000315949:L288R	L	+	2	0	HOXD8	176704576	0.000000	0.05858	0.512000	0.27736	0.965000	0.64279	0.098000	0.15189	0.409000	0.25649	-0.140000	0.14226	CTG		0.433	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			7	26	0	0	0	1	0	7	26				
LARGE	9215	broad.mit.edu	37	22	33700368	33700368	+	Missense_Mutation	SNP	C	C	T	rs536420427		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr22:33700368C>T	ENST00000354992.2	-	13	2148	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	LARGE_ENST00000397394.2_Missense_Mutation_p.R526H|LARGE_ENST00000452586.2_Missense_Mutation_p.R325H|LARGE_ENST00000402320.1_Missense_Mutation_p.R474H|LARGE_ENST00000437602.2_Missense_Mutation_p.R526H|LARGE_ENST00000337431.2_Missense_Mutation_p.R474H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	526					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CACGTTGTGGCGGCTCATAAG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20507	0.001		0.0	False		,,,				2504	0.0				Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1576-1578)cGc>cAc		like-glycosyltransferase							123.0	97.0	106.0					22																	33700368		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700368C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1577G>A	22.37:g.33700368C>T	ENSP00000347088:p.Arg526His					LARGE_ENST00000402320.1_Missense_Mutation_p.R474H|LARGE_ENST00000337431.2_Missense_Mutation_p.R474H|LARGE_ENST00000452586.2_Missense_Mutation_p.R325H|LARGE_ENST00000397394.2_Missense_Mutation_p.R526H|LARGE_ENST00000437602.2_Missense_Mutation_p.R526H	p.R526H	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			13	2148	-		Lung NSC(1;0.219)	526					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1577G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643584	0.87859	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.58940	0.73;0.78;0.73;0.78;0.3;1.73	5.46	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.969;0.975;1.0	T	0.82673	-0.0341	10	0.72032	D	0.01	-5.196	14.1826	0.65583	0.0:0.9284:0.0:0.0716	.	526;325;474;526	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	H	203;203;526;474;526;474;325;526	ENSP00000347088:R526H;ENSP00000336636:R474H;ENSP00000380549:R526H;ENSP00000385223:R474H;ENSP00000407917:R325H;ENSP00000388544:R526H	ENSP00000336636:R474H	R	-	2	0	LARGE	32030368	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.257000	0.78362	1.318000	0.45170	-0.136000	0.14681	CGC		0.617	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		4	53	0	0	0	1	0	4	53				
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																						ENST00000494540.1																			0																																																			0							g.chr10:38645343C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T								NR_003086.1						0	36	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	11	0	0	0	1	0	3	11				
ATP10B	23120	broad.mit.edu	37	5	160114831	160114831	+	Missense_Mutation	SNP	C	C	T	rs200273307		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:160114831C>T	ENST00000327245.5	-	5	1097	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	84					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGAGATTCCGGGGCAGGAA	0.453																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(250-252)cGg>cAg		ATPase, class V, type 10B		C	GLN/ARG	0,3844		0,0,1922	174.0	179.0	177.0		251	-3.5	1.0	5		177	1,8237		0,1,4118	no	missense	ATP10B	NM_025153.2	43	0,1,6040	TT,TC,CC		0.0121,0.0,0.0083	benign	84/1462	160114831	1,12081	1922	4119	6041	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160114831C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.251G>A	5.37:g.160114831C>T	ENSP00000313600:p.Arg84Gln					ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	p.R84Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	1097	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	84					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.251G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318300	0.40996	0.0	1.21E-4	ENSG00000118322	ENST00000327245	T	0.80480	-1.38	5.37	-3.5	0.04710	.	0.609648	0.16243	N	0.223076	T	0.65811	0.2727	L	0.31926	0.97	0.22240	N	0.99927	B;B;B	0.27765	0.04;0.188;0.003	B;B;B	0.24269	0.009;0.052;0.001	T	0.51228	-0.8732	9	.	.	.	.	12.6961	0.57005	0.0:0.4697:0.0:0.5303	.	128;84;84	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Q	84	ENSP00000313600:R84Q	.	R	-	2	0	ATP10B	160047409	0.573000	0.26676	0.958000	0.39756	0.692000	0.40212	0.209000	0.17435	-0.506000	0.06558	0.467000	0.42956	CGG		0.453	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		7	56	0	0	0	1	0	7	56				
ZBTB7B	51043	broad.mit.edu	37	1	154988869	154988869	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:154988869A>G	ENST00000368426.3	+	4	1465	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	443					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAAGGAGGACCACCTGCAG	0.642																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1327-1329)gAc>gGc		zinc finger and BTB domain containing 7B							85.0	75.0	78.0					1																	154988869		2202	4300	6502	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988869A>G	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1328A>G	1.37:g.154988869A>G	ENSP00000357411:p.Asp443Gly					ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G	p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1465	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		443					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1328A>G	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	a	14.32	2.501088	0.44455	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	3.62	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000002	T	0.01800	0.0057	L	0.29908	0.895	0.43043	D	0.994637	B;B;B	0.15473	0.013;0.007;0.013	B;B;B	0.14023	0.01;0.003;0.01	T	0.40757	-0.9546	10	0.41790	T	0.15	.	8.2677	0.31824	0.7981:0.2019:0.0:0.0	.	443;443;477	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	G	443;443;477;443	ENSP00000438647:D443G;ENSP00000357411:D443G;ENSP00000406286:D477G;ENSP00000292176:D443G	ENSP00000292176:D443G	D	+	2	0	ZBTB7B	153255493	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.790000	0.75115	0.540000	0.28808	0.375000	0.23000	GAC		0.642	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		6	27	0	0	0	1	0	6	27				
TRIM8	81603	broad.mit.edu	37	10	104414440	104414440	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:104414440G>A	ENST00000302424.7	+	2	723	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	201					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGACCGGCTGGAGGAGCGAGA	0.592																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(601-603)Gag>Aag		tripartite motif containing 8							167.0	157.0	160.0					10																	104414440		2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414440G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.601G>A	10.37:g.104414440G>A	ENSP00000302120:p.Glu201Lys					TRIM8_ENST00000487927.1_3'UTR	p.E201K	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	723	+		Colorectal(252;0.122)	201					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.601G>A	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.526871	0.85706	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.55588	0.51	5.19	4.29	0.51040	.	0.057228	0.64402	D	0.000002	T	0.42268	0.1195	L	0.27053	0.805	0.58432	D	0.999999	P	0.52842	0.956	P	0.46718	0.525	T	0.18023	-1.0350	10	0.10377	T	0.69	.	13.9579	0.64162	0.0734:0.0:0.9266:0.0	.	201	Q9BZR9	TRIM8_HUMAN	K	201;200	ENSP00000302120:E201K	ENSP00000302120:E201K	E	+	1	0	TRIM8	104404430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.409000	0.73289	1.221000	0.43506	-0.230000	0.12252	GAG		0.592	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		17	114	0	0	0	1	0	17	114				
SEL1L2	80343	broad.mit.edu	37	20	13894588	13894588	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:13894588G>A	ENST00000284951.5	-	5	463	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	130						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGTAGGTAGGCTCTGTTTCA	0.353																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(388-390)gCc>gTc		sel-1 suppressor of lin-12-like 2 (C. elegans)							56.0	52.0	53.0					20																	13894588		1815	4083	5898	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13894588G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.389C>T	20.37:g.13894588G>A	ENSP00000284951:p.Ala130Val					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V	p.A130V			Q5TEA6	SE1L2_HUMAN			5	463	-			130					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.389C>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648216	0.87958	.	.	ENSG00000101251	ENST00000378072;ENST00000284951;ENST00000473203	T;T;T	0.81078	-0.71;-0.71;-1.45	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.52532	D	0.000065	D	0.84032	0.5383	L	0.27053	0.805	0.51233	D	0.999911	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	D	0.84022	0.0354	10	0.51188	T	0.08	-4.8075	16.3795	0.83443	0.0:0.0:1.0:0.0	.	130;130	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	130;130;18	ENSP00000367312:A130V;ENSP00000284951:A130V;ENSP00000420372:A18V	ENSP00000284951:A130V	A	-	2	0	SEL1L2	13842588	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.175000	0.65021	2.941000	0.99782	0.655000	0.94253	GCC		0.353	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	31	0	0	0	1	0	3	31				
LRRK2	120892	broad.mit.edu	37	12	40697755	40697755	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr12:40697755G>A	ENST00000298910.7	+	27	3654	c.3596G>A	c.(3595-3597)cGg>cAg	p.R1199Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1199Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1199					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTAGCTTGCGGTCTTTAGAT	0.358																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3595-3597)cGg>cAg		leucine-rich repeat kinase 2							71.0	73.0	72.0					12																	40697755		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697755G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3596G>A	12.37:g.40697755G>A	ENSP00000298910:p.Arg1199Gln					LRRK2_ENST00000343742.2_Missense_Mutation_p.R1199Q	p.R1199Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			27	3654	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1199					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3596G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080857	0.94050	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.55760	0.5;1.83	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	N	0.04686	-0.185	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.988;0.994;0.973	T	0.65639	-0.6119	10	0.56958	D	0.05	.	19.0716	0.93140	0.0:0.0:1.0:0.0	.	1199;1199;1199	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	Q	1199	ENSP00000341930:R1199Q;ENSP00000298910:R1199Q	ENSP00000298910:R1199Q	R	+	2	0	LRRK2	38984022	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.175000	0.94831	2.677000	0.91161	0.557000	0.71058	CGG		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		11	40	0	0	0	1	0	11	40				
FAT3	120114	broad.mit.edu	37	11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A	rs200399875		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1. {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)				TAATGCTACCGTGTATGAGAA	0.488										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.(154-156)Gtg>Atg		FAT atypical cadherin 3							69.0	69.0	69.0					11																	92085432		1940	4132	6072	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085432G>A	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.154G>A	11.37:g.92085432G>A	ENSP00000298047:p.Val52Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M	p.V52M			Q8TDW7	FAT3_HUMAN			1	171	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	52			Cadherin 1.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.154G>A		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146411	0.57044	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.66099	-0.19;-0.19;-0.19	5.61	5.61	0.85477	.	.	.	.	.	T	0.78929	0.4361	M	0.84433	2.695	0.35343	D	0.786633	D	0.67145	0.996	P	0.56648	0.803	D	0.85703	0.1314	9	0.72032	D	0.01	.	18.9894	0.92784	0.0:0.0:1.0:0.0	.	52	Q8TDW7-3	.	M	52	ENSP00000298047:V52M;ENSP00000387040:V52M;ENSP00000443786:V52M	ENSP00000298047:V52M	V	+	1	0	FAT3	91725080	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.161000	0.50747	2.802000	0.96397	0.655000	0.94253	GTG		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	30	0	0	0	1	0	3	30				
TRIM15	89870	broad.mit.edu	37	6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:30138773G>A	ENST00000376694.4	+	6	1337	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	290	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(868-870)Gaa>Aaa		tripartite motif containing 15							165.0	178.0	173.0					6																	30138773		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138773G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.868G>A	6.37:g.30138773G>A	ENSP00000365884:p.Glu290Lys					TRIM15_ENST00000376688.1_Intron	p.E290K	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			6	1337	+			290			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.868G>A	CCDS4677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.833140|3.833140	0.71258|0.71258	.|.	.|.	ENSG00000204610|ENSG00000204610	ENST00000376695;ENST00000376694|ENST00000433744	T|.	0.53640|.	0.61|.	5.1|5.1	4.22|4.22	0.49857|0.49857	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	0.284737|.	0.26321|.	N|.	0.025058|.	T|.	0.45316|.	0.1336|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D|.	0.56968|.	0.978|.	P|.	0.56865|.	0.808|.	T|.	0.42155|.	-0.9468|.	10|.	0.34782|.	T|.	0.22|.	.|.	11.3132|11.3132	0.49377|0.49377	0.0:0.1988:0.8012:0.0|0.0:0.1988:0.8012:0.0	.|.	290|.	Q9C019|.	TRI15_HUMAN|.	K|X	221;290|126	ENSP00000365884:E290K|.	ENSP00000365884:E290K|.	E|W	+|+	1|3	0|0	TRIM15|TRIM15	30246752|30246752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.585000|2.585000	0.46111|0.46111	1.356000|1.356000	0.45884|0.45884	0.579000|0.579000	0.79373|0.79373	GAA|TGG		0.428	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		16	58	0	0	0	1	0	16	58				
PCDHA5	56143	broad.mit.edu	37	5	140203041	140203041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:140203041G>A	ENST00000529859.1	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A561S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGCT	0.716																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.A561S(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1681-1683)Gcg>Acg									52.0	58.0	56.0					5																	140203041		2202	4296	6498	SO:0001583	missense	0							g.chr5:140203041G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1681G>A	5.37:g.140203041G>A	ENSP00000436557:p.Ala561Thr					PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A561T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1681	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1681G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511195	0.27036	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.43294	0.95;0.95;0.95	3.86	2.9	0.33743	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.41373	0.1156	M	0.69823	2.125	0.26803	N	0.969159	P;P;P	0.43607	0.466;0.812;0.812	B;B;B	0.36244	0.094;0.22;0.22	T	0.46091	-0.9216	9	0.66056	D	0.02	.	13.1137	0.59288	0.0:0.0:0.8399:0.1601	.	561;561;561	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	561	ENSP00000433416:A561T;ENSP00000436557:A561T;ENSP00000367366:A561T	ENSP00000367366:A561T	A	+	1	0	PCDHA5	140183225	0.225000	0.23685	0.978000	0.43139	0.010000	0.07245	1.728000	0.38105	1.864000	0.54056	0.461000	0.40582	GCG		0.716	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	79	0	0	0	1	0	4	79				
ITGA9	3680	broad.mit.edu	37	3	37818970	37818970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:37818970A>G	ENST00000264741.5	+	24	2885	c.2629A>G	c.(2629-2631)Ata>Gta	p.I877V	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	877					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTTCCACACAATATTTGCTTT	0.428																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2629-2631)Ata>Gta		integrin, alpha 9							119.0	117.0	118.0					3																	37818970		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37818970A>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2629A>G	3.37:g.37818970A>G	ENSP00000264741:p.Ile877Val					AC093415.2_ENST00000438136.1_RNA	p.I877V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	24	2885	+			877					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2629A>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958144	0.73902	.	.	ENSG00000144668	ENST00000264741	T	0.43688	0.94	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49640	1.575	0.80722	D	1	B	0.32968	0.392	B	0.37091	0.241	T	0.19418	-1.0306	10	0.21540	T	0.41	.	15.1835	0.72978	1.0:0.0:0.0:0.0	.	877	Q13797	ITA9_HUMAN	V	877	ENSP00000264741:I877V	ENSP00000264741:I877V	I	+	1	0	ITGA9	37793974	1.000000	0.71417	0.895000	0.35142	0.992000	0.81027	8.438000	0.90305	2.285000	0.76669	0.533000	0.62120	ATA		0.428	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		10	25	0	0	0	1	0	10	25				
NPC1L1	29881	broad.mit.edu	37	7	44575523	44575523	+	Silent	SNP	C	C	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr7:44575523C>A	ENST00000289547.4	-	5	1954	c.1899G>T	c.(1897-1899)ctG>ctT	p.L633L	NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	633	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAAGATGGGCAGGTCTTCAG	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1897-1899)ctG>ctT		NPC1-like 1	Ezetimibe(DB00973)						129.0	111.0	117.0					7																	44575523		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575523C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1899G>T	7.37:g.44575523C>A						NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			5	1954	-			633			SSD.		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1899G>T	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	28	1	0	0.150653	1	0.150653	3	28				
ITGA8	8516	broad.mit.edu	37	10	15649742	15649742	+	Silent	SNP	G	G	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:15649742G>T	ENST00000378076.3	-	17	2051	c.1698C>A	c.(1696-1698)cgC>cgA	p.R566R		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	566					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGGGAAGACGCGATGAGCCT	0.453																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1696-1698)cgC>cgA		integrin, alpha 8							174.0	172.0	173.0					10																	15649742		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649742G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1698C>A	10.37:g.15649742G>T							p.R566R	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			17	2051	-			566					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.1698C>A	CCDS31155.1																																																																																				0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		19	88	1	0	8.00594e-06	1	8.38717e-06	19	88				
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386																																						ENST00000521433.1																			0																																																			0							g.chr8:89498121_89498122insA																													8.37:g.89498131_89498131dupA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	INS	ENST00000521433.1	37																																																																																						0.386	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			2	4						2	4	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316387	12316389	+	In_Frame_Del	DEL	CTA	CTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:12316387_12316389delCTA	ENST00000256186.2	+	3	1700_1702	c.1409_1411delCTA	c.(1408-1413)cctaca>cca	p.T471del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	471			T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctACAGCGGGAGG	0.576																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1408-1413)cca>c		MICAL C-terminal like				571,2409		136,299,1055						0.4	0.0		dbSNP_107	5	2322,4470		556,1210,1630	no	coding	MICALCL	NM_032867.2		692,1509,2685	A1A1,A1R,RR		34.1873,19.1611,29.605				2893,6879				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316387_12316389delCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1409_1411delCTA	11.37:g.12316387_12316389delCTA	ENSP00000256186:p.Thr471del						p.PT470del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1700_1702	+			470			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1409_1411delCTA	CCDS41620.1																																																																																				0.576	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		2	4						2	4	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80047029	80047029	+	Frame_Shift_Del	DEL	G	G	-	rs144627566		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr17:80047029delG	ENST00000306749.2	-	14	2338	c.2120delC	c.(2119-2121)ccafs	p.P707fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	707	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCTGAACGTGGCTTCGGCTC	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2119-2121)cafs		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						42.0	41.0	41.0					17																	80047029		2167	4267	6434	SO:0001589	frameshift_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80047029delG	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2120delC	17.37:g.80047029delG	ENSP00000304592:p.Pro707fs						p.P707fs	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		14	2338	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		707			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000306749.2	37	c.2120delC	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	9						5	9	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19751408	19751408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr18:19751408delC	ENST00000269216.3	+	2	580	c.303delC	c.(301-303)ggcfs	p.G101fs	GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	101					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGGTCGCGGGCCCCGGGGGCA	0.726																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(301-303)ggfs		GATA binding protein 6							6.0	9.0	8.0					18																	19751408		1887	3973	5860	SO:0001589	frameshift_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751408delC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.303delC	18.37:g.19751408delC	ENSP00000269216:p.Gly101fs					GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs	p.G101fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	580	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		101					B0YJ17|P78327	Frame_Shift_Del	DEL	ENST00000269216.3	37	c.303delC	CCDS11872.1																																																																																				0.726	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---
MAP2K4P1	139201	broad.mit.edu	37	X	72755791	72755791	+	RNA	DEL	A	A	-			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chrX:72755791delA	ENST00000602584.1	-	0	126					NR_029423.1				mitogen-activated protein kinase kinase 4 pseudogene 1																		TAAATAAACTAATCTACAAGT	0.368																																						ENST00000602584.1																			0																																																			0							g.chrX:72755791delA			Xq13.2	2013-08-05			ENSG00000269904	ENSG00000269904			43837	pseudogene	pseudogene							Standard	NR_029423		Approved		uc022bza.1		OTTHUMG00000021833		X.37:g.72755791delA								NR_029423.1						0	126	-									RNA	DEL	ENST00000602584.1	37																																																																																						0.368	MAP2K4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467477.1			2	4						2	4	---	---	---	---
