#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
TRIM5	85363	broad.mit.edu	37	11	5686810	5686810	+	Intron	SNP	C	C	A	rs575235627		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:5686810C>A	ENST00000380034.3	-	7	1152				TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_Missense_Mutation_p.C324F|TRIM5_ENST00000396853.4_Intron	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|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)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TAATAGAGAACATAAAATTCT	0.373											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000396847.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(970-972)tGt>tTt		tripartite motif containing 5							56.0	60.0	59.0					11																	5686810		2199	4295	6494	SO:0001627	intron_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686810C>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.895+75G>T	11.37:g.5686810C>A			OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Intron	p.C324F			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	7	1206	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	0			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.971G>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661902	0.14645	.	.	ENSG00000132256	ENST00000396847	T	0.66995	-0.24	3.55	-7.09	0.01553	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	8	0.11182	T	0.66	.	4.9444	0.13982	0.3353:0.1414:0.0:0.5233	.	324	Q9C035-3	.	F	324	ENSP00000380058:C324F	ENSP00000380058:C324F	C	-	2	0	TRIM5	5643386	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.646000	0.01998	-1.794000	0.01256	-0.362000	0.07510	TGT		0.373	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		20	43	1	0	2.94398e-08	1	3.10754e-08	20	43				
ZFYVE26	23503	broad.mit.edu	37	14	68265336	68265336	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:68265336G>A	ENST00000347230.4	-	11	1781	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	548					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGATTTGCAGCACCTACAAA	0.443																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(1642-1644)gCt>gTt		zinc finger, FYVE domain containing 26							43.0	40.0	41.0					14																	68265336		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68265336G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1643C>T	14.37:g.68265336G>A	ENSP00000251119:p.Ala548Val					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	1781	-			548					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1643C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464648	0.12402	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26957	1.84;1.7	6.06	6.06	0.98353	.	0.392036	0.27677	N	0.018313	T	0.38665	0.1049	L	0.56769	1.78	0.32910	D	0.514396	D;D;B	0.65815	0.995;0.975;0.006	P;P;B	0.56163	0.793;0.644;0.005	T	0.49312	-0.8953	10	0.39692	T	0.17	-11.6475	11.3854	0.49782	0.0813:0.0:0.9187:0.0	.	548;548;548	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	548;527;548	ENSP00000251119:A548V;ENSP00000450603:A548V	ENSP00000251119:A548V	A	-	2	0	ZFYVE26	67335089	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.421000	0.59848	2.882000	0.98803	0.655000	0.94253	GCT		0.443	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		14	23	0	0	0	1	0	14	23				
RP1L1	94137	broad.mit.edu	37	8	10469466	10469466	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:10469466C>T	ENST00000382483.3	-	4	2365	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	714					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCAGAGGCCTGTGTCCTGG	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2140-2142)caG>caA		retinitis pigmentosa 1-like 1							46.0	56.0	52.0					8																	10469466		2039	4177	6216	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469466C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2142G>A	8.37:g.10469466C>T							p.Q714Q	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2365	-			714					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2142G>A	CCDS43708.1																																																																																				0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			20	28	0	0	0	1	0	20	28				
ZNF90	7643	broad.mit.edu	37	19	20229690	20229690	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:20229690C>A	ENST00000418063.2	+	4	1439	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	443					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCTTAGCACACATAAGATAAT	0.388																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(1327-1329)Cat>Aat		zinc finger protein 90							43.0	40.0	41.0					19																	20229690		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229690C>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1327C>A	19.37:g.20229690C>A	ENSP00000410466:p.His443Asn					ZNF90_ENST00000474284.1_Intron	p.H443N	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	1439	+			443					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1327C>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346161	0.41599	.	.	ENSG00000213988	ENST00000418063	D	0.86865	-2.18	0.793	0.793	0.18632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93556	0.7943	M	0.93550	3.43	0.31469	N	0.668635	D	0.60160	0.987	D	0.71870	0.975	D	0.89596	0.3831	8	.	.	.	.	7.0937	0.25297	0.0:1.0:0.0:0.0	.	443	Q03938	ZNF90_HUMAN	N	443	ENSP00000410466:H443N	.	H	+	1	0	ZNF90	20090690	0.986000	0.35501	0.011000	0.14972	0.011000	0.07611	3.674000	0.54598	0.283000	0.22279	0.289000	0.19496	CAT		0.388	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		8	22	1	0	1.06961e-07	1	1.11663e-07	8	22				
KRTAP11-1	337880	broad.mit.edu	37	21	32253792	32253792	+	Missense_Mutation	SNP	G	G	A	rs199724044		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:32253792G>A	ENST00000332378.4	-	1	82	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAATGCAGCGTCCTCCAATG	0.542																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(52-54)Cgc>Tgc		keratin associated protein 11-1							97.0	89.0	92.0					21																	32253792		2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253792G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.52C>T	21.37:g.32253792G>A	ENSP00000330720:p.Arg18Cys						p.R18C	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	82	-			18					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.52C>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950332	0.34377	.	.	ENSG00000182591	ENST00000332378	T	0.03094	4.05	5.4	3.57	0.40892	.	0.608443	0.16373	N	0.217235	T	0.06645	0.0170	L	0.27053	0.805	0.35242	D	0.777883	D	0.71674	0.998	P	0.57846	0.828	T	0.47169	-0.9138	10	0.37606	T	0.19	-3.1116	9.2557	0.37581	0.0807:0.147:0.7723:0.0	.	18	Q8IUC1	KR111_HUMAN	C	18	ENSP00000330720:R18C	ENSP00000330720:R18C	R	-	1	0	KRTAP11-1	31175663	0.904000	0.30761	0.533000	0.28001	0.344000	0.29017	1.338000	0.33873	0.776000	0.33473	0.650000	0.86243	CGC		0.542	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			29	63	0	0	0	1	0	29	63				
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:11461589A>G	ENST00000535904.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000279575.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	131	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(328-330)Tcc>Ccc		proline-rich protein BstNI subfamily 4							166.0	175.0	172.0					12																	11461589		2202	4300	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461589A>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.328T>C	12.37:g.11461589A>G	ENSP00000442834:p.Ser110Pro	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P	p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	361	-			152			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.328T>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.945176	0.00479	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04706	3.57;3.57;3.57	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02380	0.0073	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	8	0.32370	T	0.25	.	.	.	.	.	110	E9PAL0	.	P	110	ENSP00000279575:S110P;ENSP00000442834:S110P;ENSP00000412740:S110P	ENSP00000279575:S110P	S	-	1	0	PRB4	11352856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.351000	0.02622	-3.181000	0.00222	-3.255000	0.00050	TCC		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		8	342	0	0	0	1	0	8	342				
HDAC7	51564	broad.mit.edu	37	12	48196010	48196010	+	5'UTR	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:48196010C>T	ENST00000427332.2	-	0	106				HDAC7_ENST00000080059.7_Missense_Mutation_p.A23T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000552960.1_Intron			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(67-69)Gca>Aca		histone deacetylase 7							41.0	42.0	42.0					12																	48196010		1885	4110	5995	SO:0001623	5_prime_UTR_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48196010C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.-51G>A	12.37:g.48196010C>T			OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T	p.A23T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	2	66	-			207			Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	C	5.673	0.308718	0.10733	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000380610;ENST00000430670	T;T;T;T	0.56275	0.53;0.6;0.47;1.0	5.34	-0.178	0.13303	.	1.715750	0.03877	N	0.276633	T	0.30262	0.0759	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20505	-1.0273	10	0.27785	T	0.31	.	4.6103	0.12399	0.0:0.1729:0.3144:0.5127	.	23;23	Q8WUI4-5;Q8WUI4-7	.;.	T	23;23;40;23	ENSP00000080059:A23T;ENSP00000351326:A23T;ENSP00000369984:A40T;ENSP00000396159:A23T	ENSP00000080059:A23T	A	-	1	0	HDAC7	46482277	1.000000	0.71417	0.971000	0.41717	0.889000	0.51656	0.296000	0.19083	0.077000	0.16863	-0.295000	0.09555	GCA		0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			6	18	0	0	0	1	0	6	18				
ZNF521	25925	broad.mit.edu	37	18	22807028	22807028	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:22807028T>C	ENST00000361524.3	-	4	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	285					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCGTGGCAGTAGACACACTG	0.547			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(853-855)tAc>tGc		zinc finger protein 521							99.0	94.0	95.0					18																	22807028		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807028T>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.854A>G	18.37:g.22807028T>C	ENSP00000354794:p.Tyr285Cys					ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C	p.Y285C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1002	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		285					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.854A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370987	0.24771	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.29142	1.58;1.58	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.53780	1.695	0.47949	D	0.999552	D	0.76494	0.999	D	0.73708	0.981	T	0.52087	-0.8622	10	0.72032	D	0.01	-45.4738	16.5446	0.84426	0.0:0.0:0.0:1.0	.	285	Q96K83	ZN521_HUMAN	C	285;319;285	ENSP00000354794:Y285C;ENSP00000382352:Y285C	ENSP00000354794:Y285C	Y	-	2	0	ZNF521	21061026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.311000	0.77944	0.533000	0.62120	TAC		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		28	39	0	0	0	1	0	28	39				
MAP3K9	4293	broad.mit.edu	37	14	71227862	71227862	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:71227862G>T	ENST00000554752.2	-	3	857	c.858C>A	c.(856-858)agC>agA	p.S286R	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAATCTTGTTGCTCAGGTCTC	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(856-858)agC>agA		mitogen-activated protein kinase kinase kinase 9							115.0	103.0	107.0					14																	71227862		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71227862G>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.858C>A	14.37:g.71227862G>T	ENSP00000451612:p.Ser286Arg					MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R	p.S286R			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	3	857	-			286			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.858C>A		.	.	.	.	.	.	.	.	.	.	G	18.42	3.620659	0.66787	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250;ENST00000554146;ENST00000542284	D;D;T	0.89617	-2.54;-2.54;-0.88	5.13	2.24	0.28232	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	L	0.41079	1.255	0.42978	D	0.994452	B;B;B	0.30179	0.271;0.068;0.055	B;B;B	0.35859	0.212;0.145;0.089	T	0.72978	-0.4127	10	0.19147	T	0.46	.	8.4193	0.32690	0.3098:0.0:0.6902:0.0	.	23;286;286	G3V4P9;P80192;P80192-4	.;M3K9_HUMAN;.	R	286;286;286;23;14	ENSP00000451612:S286R;ENSP00000370649:S286R;ENSP00000451921:S23R	ENSP00000005198:S286R	S	-	3	2	MAP3K9	70297615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.191000	0.32138	0.738000	0.32606	0.455000	0.32223	AGC		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			15	13	1	0	7.93312e-07	1	8.19181e-07	15	13				
AREL1	9870	broad.mit.edu	37	14	75151317	75151317	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:75151317C>T	ENST00000356357.4	-	4	598	c.83G>A	c.(82-84)cGt>cAt	p.R28H	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	28					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTGACTACACGTGCGGCAAG	0.517																																						ENST00000356357.4																			0											c.(82-84)cGt>cAt		apoptosis resistant E3 ubiquitin protein ligase 1							52.0	52.0	52.0					14																	75151317		1984	4172	6156	SO:0001583	missense	9870							g.chr14:75151317C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.83G>A	14.37:g.75151317C>T	ENSP00000348714:p.Arg28His					AREL1_ENST00000557401.1_5'UTR	p.R28H	NM_001039479.1	NP_001034568.1					4	598	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.83G>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366322	0.95900	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.964	T	0.58885	-0.7557	10	0.42905	T	0.14	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	28;28	O15033-2;O15033	.;K0317_HUMAN	H	28	ENSP00000348714:R28H;ENSP00000450458:R28H	ENSP00000348714:R28H	R	-	2	0	KIAA0317	74221070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.730000	0.93505	0.655000	0.94253	CGT		0.517	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		23	22	0	0	0	1	0	23	22				
TTN	7273	broad.mit.edu	37	2	179489454	179489454	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179489454G>A	ENST00000591111.1	-	192	39854	c.39630C>T	c.(39628-39630)ccC>ccT	p.P13210P	TTN_ENST00000342992.6_Silent_p.P12283P|TTN_ENST00000589042.1_Silent_p.P14851P|TTN_ENST00000342175.6_Silent_p.P5978P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.P5911P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P5786P			Q8WZ42	TITIN_HUMAN	titin	13210	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCAACTGGGGGTTCTGAAA	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44551-44553)ccC>ccT		titin							54.0	54.0	54.0					2																	179489454		1841	4077	5918	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489454G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39630C>T	2.37:g.179489454G>A						TTN_ENST00000342175.6_Silent_p.P5978P|TTN_ENST00000460472.2_Silent_p.P5786P|TTN_ENST00000359218.5_Silent_p.P5911P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P13210P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P12283P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.P14851P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	44777	-			13210			Fibronectin type-III 7.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.44553C>T																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	21	0	0	0	1	0	21	21				
PDZRN3	23024	broad.mit.edu	37	3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3115-3117)aCg>aTg		PDZ domain containing ring finger 3							236.0	246.0	243.0					3																	73432601		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432601G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3116C>T	3.37:g.73432601G>A	ENSP00000263666:p.Thr1039Met					PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M	p.T1039M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3230	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1039					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3116C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.21|15.21	2.765645|2.765645	0.49574|0.49574	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.68915	.|0.3053	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.998;0.999;0.997	.|T	.|0.72246	.|-0.4349	.|10	.|0.87932	.|D	.|0	.|.	19.3333|19.3333	0.94303|0.94303	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|761;756;756;1039	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	X|M	355|1039;761;696;696;756	.|ENSP00000263666:T1039M;ENSP00000442026:T761M;ENSP00000418168:T696M;ENSP00000418484:T696M;ENSP00000418624:T756M	.|ENSP00000263666:T1039M	R|T	-|-	1|2	2|0	PDZRN3|PDZRN3	73515291|73515291	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.232000|0.232000	0.25224|0.25224	9.572000|9.572000	0.98179|0.98179	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		4	204	0	0	0	1	0	4	204				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	23	0	0	0	1	0	4	23				
FAM135A	57579	broad.mit.edu	37	6	71234964	71234964	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:71234964G>A	ENST00000418814.2	+	15	2791	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	726										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTTCTATTGGAGAATCATTA	0.318																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(2176-2178)gGa>gAa		family with sequence similarity 135, member A							47.0	52.0	50.0					6																	71234964		2203	4299	6502	SO:0001583	missense	57579							g.chr6:71234964G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2177G>A	6.37:g.71234964G>A	ENSP00000410768:p.Gly726Glu					FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E	p.G726E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	2791	+			726					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.2177G>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059227	0.19987	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	6.07	5.2	0.72013	.	0.424838	0.27710	N	0.018166	T	0.18425	0.0442	L	0.39147	1.195	0.27108	N	0.962444	B;B;B;B	0.17667	0.005;0.003;0.004;0.023	B;B;B;B	0.22386	0.028;0.011;0.009;0.039	T	0.10200	-1.0640	10	0.42905	T	0.14	.	11.5833	0.50904	0.1436:0.0:0.8564:0.0	.	726;726;530;513	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	E	726;513;513;530;726	ENSP00000410768:G726E;ENSP00000359510:G513E;ENSP00000409201:G513E;ENSP00000354913:G530E;ENSP00000423307:G726E	ENSP00000354913:G530E	G	+	2	0	FAM135A	71291685	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.674000	0.37544	1.549000	0.49425	0.655000	0.94253	GGA		0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		6	53	0	0	0	1	0	6	53				
MYBPC2	4606	broad.mit.edu	37	19	50939061	50939061	+	Silent	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:50939061T>C	ENST00000357701.5	+	3	189	c.138T>C	c.(136-138)acT>acC	p.T46T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	46					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTCCCCGACTGCAGAGGAGC	0.662																																						ENST00000357701.5																			0				breast(1)	1						c.(136-138)acT>acC		myosin binding protein C, fast type							23.0	26.0	25.0					19																	50939061		1880	4103	5983	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939061T>C		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.138T>C	19.37:g.50939061T>C							p.T46T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	3	189	+		all_neural(266;0.057)	46					A1L4G9	Silent	SNP	ENST00000357701.5	37	c.138T>C	CCDS46152.1																																																																																				0.662	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		7	10	0	0	0	1	0	7	10				
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		37	Substitution - Missense(37)	p.H1047Y(37)	large_intestine(15)|endometrium(13)|breast(5)|ovary(3)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)Cat>Tat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							100.0	89.0	92.0					3																	178952084		1912	4132	6044	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952084C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3139C>T	3.37:g.178952084C>T	ENSP00000263967:p.His1047Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3296	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3139C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173289	0.38413	.	.	ENSG00000121879	ENST00000263967	T	0.80480	-1.38	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	N	0.00265	-1.74	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56908	-0.7901	10	0.36615	T	0.2	-21.2893	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	Y	1047	ENSP00000263967:H1047Y	ENSP00000263967:H1047Y	H	+	1	0	PIK3CA	180434778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.894000	0.99253	0.591000	0.81541	CAT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			22	31	0	0	0	1	0	22	31				
HYDIN	54768	broad.mit.edu	37	16	71007758	71007758	+	Missense_Mutation	SNP	C	C	T	rs532099780	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:71007758C>T	ENST00000393567.2	-	34	5353	c.5203G>A	c.(5203-5205)Gtc>Atc	p.V1735I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1735					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGCTCTGGACGAACCATTCA	0.483													C|||	3	0.000599042	0.0023	0.0	5008	,	,		31231	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(5203-5205)Gtc>Atc		HYDIN, axonemal central pair apparatus protein																																				SO:0001583	missense	54768							g.chr16:71007758C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5203G>A	16.37:g.71007758C>T	ENSP00000377197:p.Val1735Ile						p.V1735I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			34	5353	-		Ovarian(137;0.0654)	1735					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.5203G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	0.497	-0.872483	0.02570	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.52526	0.66	4.82	0.527	0.17084	.	0.000000	0.30109	U	0.010394	T	0.22704	0.0548	N	0.17594	0.5	0.80722	D	1	B	0.20459	0.045	B	0.13407	0.009	T	0.19844	-1.0293	10	0.05721	T	0.95	.	8.2851	0.31924	0.1201:0.7116:0.0:0.1682	.	1734	F8WD23	.	I	1735;1734	ENSP00000377197:V1735I	ENSP00000310485:V26I	V	-	1	0	HYDIN	69565259	0.903000	0.30736	0.943000	0.38184	0.531000	0.34715	0.028000	0.13644	0.190000	0.20209	0.505000	0.49811	GTC		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	47	0	0	0	1	0	7	47				
NOS2	4843	broad.mit.edu	37	17	26084290	26084290	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:26084290C>T	ENST00000313735.6	-	27	3677	c.3444G>A	c.(3442-3444)ctG>ctA	p.L1148L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1148					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTGACATCTCCAGGCTGCTGG	0.547											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(3442-3444)ctG>ctA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						61.0	53.0	56.0					17																	26084290		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26084290C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3444G>A	17.37:g.26084290C>T			OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97		p.L1148L	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			27	3677	-			1148					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.3444G>A	CCDS11223.1																																																																																				0.547	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		39	60	0	0	0	1	0	39	60				
TONSL	4796	broad.mit.edu	37	8	145667765	145667765	+	Silent	SNP	G	G	A	rs569775648	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:145667765G>A	ENST00000409379.3	-	6	638	c.609C>T	c.(607-609)cgC>cgT	p.R203R	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	203					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGTAGCGGGCGCGGAATAGGT	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		15572	0.0		0.0	False		,,,				2504	0.002					ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(607-609)cgC>cgT		tonsoku-like, DNA repair protein							42.0	40.0	41.0					8																	145667765		2200	4299	6499	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145667765G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.609C>T	8.37:g.145667765G>A							p.R203R	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			6	638	-			203					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.609C>T	CCDS34968.2																																																																																				0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		21	31	0	0	0	1	0	21	31				
S1PR4	8698	broad.mit.edu	37	19	3179742	3179742	+	Missense_Mutation	SNP	G	G	A	rs145561195	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:3179742G>A	ENST00000246115.3	+	1	1007	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	318					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.V318M(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGCAGAGCCGTGCTCAGCTT	0.687																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			2	Substitution - Missense(2)	p.V318M(2)	breast(2)	breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(952-954)Gtg>Atg		sphingosine-1-phosphate receptor 4		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	54.0	56.0	56.0		952	3.7	1.0	19	dbSNP_134	56	3,8597	3.7+/-12.6	0,3,4297	yes	missense	S1PR4	NM_003775.3	21	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging	318/385	3179742	4,13002	2203	4300	6503	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179742G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.952G>A	19.37:g.3179742G>A	ENSP00000246115:p.Val318Met						p.V318M	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	1007	+			318					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.952G>A	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807081	0.31961	2.27E-4	3.49E-4	ENSG00000125910	ENST00000246115	T	0.39229	1.09	3.71	3.71	0.42584	.	0.151251	0.45606	D	0.000355	T	0.34366	0.0895	L	0.29908	0.895	0.43766	D	0.996288	D	0.57257	0.979	P	0.44518	0.452	T	0.23190	-1.0195	10	0.46703	T	0.11	.	14.2033	0.65719	0.0:0.0:1.0:0.0	.	318	O95977	S1PR4_HUMAN	M	318	ENSP00000246115:V318M	ENSP00000246115:V318M	V	+	1	0	S1PR4	3130742	0.997000	0.39634	0.994000	0.49952	0.100000	0.18952	3.155000	0.50700	1.923000	0.55706	0.462000	0.41574	GTG		0.687	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		32	70	0	0	0	1	0	32	70				
OR2A25	392138	broad.mit.edu	37	7	143771612	143771612	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:143771612G>A	ENST00000408898.2	+	1	338	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACCCAGATGTTTCTGTTTT	0.537																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(298-300)atG>atA		olfactory receptor, family 2, subfamily A, member 25							81.0	88.0	86.0					7																	143771612		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771612G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.300G>A	7.37:g.143771612G>A	ENSP00000386167:p.Met100Ile						p.M100I	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	338	+	Melanoma(164;0.0783)		100					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.300G>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107335	0.06924	.	.	ENSG00000221933	ENST00000408898	T	0.02944	4.1	4.88	-0.304	0.12788	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02767	0.0083	L	0.51914	1.62	0.20196	N	0.999928	B	0.19073	0.033	B	0.13407	0.009	T	0.45789	-0.9237	9	0.37606	T	0.19	-4.7255	1.2815	0.02042	0.135:0.3219:0.2853:0.2578	.	100	A4D2G3	O2A25_HUMAN	I	100	ENSP00000386167:M100I	ENSP00000386167:M100I	M	+	3	0	OR2A25	143402545	0.000000	0.05858	0.993000	0.49108	0.358000	0.29455	-3.521000	0.00443	-0.005000	0.14395	-0.344000	0.07964	ATG		0.537	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			44	81	0	0	0	1	0	44	81				
CRTAC1	55118	broad.mit.edu	37	10	99640052	99640052	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:99640052C>T	ENST00000370597.3	-	14	2128	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K	CRTAC1_ENST00000298819.4_Missense_Mutation_p.S577N|CRTAC1_ENST00000370591.2_Silent_p.K591K|CRTAC1_ENST00000468549.1_5'Flank	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	591	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGACTGCACTTCTTGTTGG	0.572																																						ENST00000298819.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1729-1731)aGt>aAt		cartilage acidic protein 1							139.0	114.0	123.0					10																	99640052		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99640052C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1773G>A	10.37:g.99640052C>T						CRTAC1_ENST00000370597.3_Silent_p.K591K|CRTAC1_ENST00000370591.2_Silent_p.K591K	p.S577N			Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	13	2085	-		Colorectal(252;0.24)	0			EGF-like.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1730G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630252	0.28978	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35605	1.3;1.33	4.39	-2.42	0.06542	.	.	.	.	.	T	0.23410	0.0566	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.04005	-1.0985	8	0.45353	T	0.12	-7.641	6.9536	0.24558	0.0:0.3712:0.12:0.5088	.	473	Q5T4F6	.	N	473;577	ENSP00000408445:S473N;ENSP00000298819:S577N	ENSP00000298819:S577N	S	-	2	0	CRTAC1	99630042	1.000000	0.71417	0.923000	0.36655	0.980000	0.70556	0.706000	0.25690	-0.396000	0.07703	0.448000	0.29417	AGT		0.572	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		34	18	0	0	0	1	0	34	18				
ATXN7	6314	broad.mit.edu	37	3	63975932	63975932	+	Missense_Mutation	SNP	T	T	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:63975932T>A	ENST00000295900.6	+	10	1992	c.1442T>A	c.(1441-1443)cTg>cAg	p.L481Q	ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000398590.3_Missense_Mutation_p.L481Q|ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q|ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	481	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACCCTCCCCTGCCTGCCACT	0.552																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1441-1443)cTg>cAg		ataxin 7							69.0	77.0	74.0					3																	63975932		2025	4183	6208	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63975932T>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1442T>A	3.37:g.63975932T>A	ENSP00000295900:p.Leu481Gln					ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q|ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000295900.6_Missense_Mutation_p.L481Q	p.L481Q	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	10	1995	+		Prostate(884;0.0181)	481			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1442T>A	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749886	0.69533	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.16457	2.34;2.35;2.35;2.34;2.36	5.91	5.91	0.95273	.	0.389813	0.26616	N	0.023395	T	0.28764	0.0713	L	0.34521	1.04	0.38122	D	0.937885	B;B;D	0.61697	0.144;0.225;0.99	B;B;P	0.59703	0.035;0.07;0.862	T	0.03750	-1.1007	10	0.51188	T	0.08	-7.079	16.3512	0.83208	0.0:0.0:0.0:1.0	.	336;481;481	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	Q	481;481;481;481;336	ENSP00000381590:L481Q;ENSP00000295900:L481Q;ENSP00000420234:L481Q;ENSP00000439585:L481Q;ENSP00000428277:L336Q	ENSP00000295900:L481Q	L	+	2	0	ATXN7	63950972	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.248000	0.51430	2.266000	0.75297	0.533000	0.62120	CTG		0.552	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		19	22	0	0	0	1	0	19	22				
IGHG2	3501	broad.mit.edu	37	14	106110412	106110412	+	RNA	SNP	C	C	T	rs117098144		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:106110412C>T	ENST00000390545.2	-	0	323							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TACCTGGGCACGGTGGGCACT	0.617													N|||	1	0.000199681	0.0	0.0	5008	,	,		21919	0.0		0.001	False		,,,				2504	0.0					ENST00000390545.2																			0															C		0,4144		0,0,2072	137.0	134.0	135.0			-2.1	0.0	14	dbSNP_132	135	1,8433		0,1,4216	no	intergenic				0,1,6288	TT,TC,CC		0.0119,0.0,0.0080			106110412	1,12577	2072	4217	6289			0							g.chr14:106110412C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110412C>T														0	323	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		69	102	0	0	0	1	0	69	102				
URGCP	55665	broad.mit.edu	37	7	43916839	43916839	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:43916839C>T	ENST00000453200.1	-	6	2716	c.2223G>A	c.(2221-2223)caG>caA	p.Q741Q	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000336086.6_Silent_p.Q698Q			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	741	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAGGTCCTGGCTGAAGC	0.602																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2092-2094)caG>caA		upregulator of cell proliferation							40.0	42.0	41.0					7																	43916839		2067	4218	6285	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916839C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2223G>A	7.37:g.43916839C>T						URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000453200.1_Silent_p.Q741Q	p.Q698Q			Q8TCY9	URGCP_HUMAN			4	4330	-			741					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2094G>A	CCDS47578.1																																																																																				0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		21	54	0	0	0	1	0	21	54				
DHX30	22907	broad.mit.edu	37	3	47887324	47887324	+	Missense_Mutation	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:47887324A>G	ENST00000445061.1	+	10	1481	c.1074A>G	c.(1072-1074)atA>atG	p.I358M	DHX30_ENST00000348968.4_Missense_Mutation_p.I330M|DHX30_ENST00000457607.1_Missense_Mutation_p.I386M|DHX30_ENST00000446256.2_Missense_Mutation_p.I319M	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	358						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCGCAAGATAGAGACCTTCC	0.597																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(955-957)atA>atG		DEAH (Asp-Glu-Ala-His) box helicase 30							98.0	83.0	89.0					3																	47887324		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887324A>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1074A>G	3.37:g.47887324A>G	ENSP00000405620:p.Ile358Met					DHX30_ENST00000457607.1_Missense_Mutation_p.I386M|DHX30_ENST00000445061.1_Missense_Mutation_p.I358M|DHX30_ENST00000348968.4_Missense_Mutation_p.I330M	p.I319M	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	1529	+			358					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.957A>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034785	0.35893	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03413	3.95;3.94;3.95;3.94	5.38	-6.06	0.02165	.	0.092578	0.64402	D	0.000001	T	0.01905	0.0060	N	0.25647	0.755	0.45607	D	0.99854	B;B	0.19706	0.033;0.038	B;B	0.15870	0.01;0.014	T	0.45366	-0.9266	10	0.31617	T	0.26	.	4.6495	0.12587	0.2602:0.4678:0.0712:0.2008	.	358;319	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	M	319;358;330;386	ENSP00000392601:I319M;ENSP00000405620:I358M;ENSP00000343442:I330M;ENSP00000394682:I386M	ENSP00000343442:I330M	I	+	3	3	DHX30	47862328	0.135000	0.22499	0.988000	0.46212	0.997000	0.91878	-0.892000	0.04131	-0.584000	0.05913	0.533000	0.62120	ATA		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		20	20	0	0	0	1	0	20	20				
PLEKHN1	84069	broad.mit.edu	37	1	905681	905681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:905681C>T	ENST00000379409.2	+	3	238	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.3_Nonsense_Mutation_p.R70*			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	70										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGAACCAGCGAGAAAACCT	0.617																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(208-210)Cga>Tga		pleckstrin homology domain containing, family N member 1							38.0	41.0	40.0					1																	905681		2202	4300	6502	SO:0001587	stop_gained	84069							g.chr1:905681C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.208C>T	1.37:g.905681C>T	ENSP00000368719:p.Arg70*					PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.2_Nonsense_Mutation_p.R70*	p.R70*			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	3	238	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	70					Q494U2|Q5SV98|Q9H0M7	Nonsense_Mutation	SNP	ENST00000379409.2	37	c.208C>T		.	.	.	.	.	.	.	.	.	.	C	14.30	2.494249	0.44352	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	.	.	.	5.11	3.06	0.35304	.	1.134170	0.06963	N	0.816714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9582	0.24583	0.2667:0.5771:0.1562:0.0	.	.	.	.	X	70	.	ENSP00000368717:R70X	R	+	1	2	PLEKHN1	895544	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.416000	0.21198	1.358000	0.45922	0.643000	0.83706	CGA		0.617	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		11	25	0	0	0	1	0	11	25				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	125	0	0	0	1	0	4	125				
BAGE2	85319	broad.mit.edu	37	21	11039052	11039052	+	RNA	SNP	T	T	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:11039052T>A	ENST00000470054.1	-	0	1151							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAGAGTCCATCAATCCAGTA	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039052T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039052T>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1151	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		23	546	0	0	0	1	0	23	546				
NLRC5	84166	broad.mit.edu	37	16	57054711	57054711	+	Silent	SNP	C	C	T	rs200713636	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:57054711C>T	ENST00000262510.6	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000436936.1_Silent_p.N29N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													C|||	4	0.000798722	0.0	0.0	5008	,	,		14507	0.0		0.001	False		,,,				2504	0.0031					ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(85-87)aaC>aaT		NLR family, CARD domain containing 5							98.0	87.0	91.0					16																	57054711		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57054711C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.87C>T	16.37:g.57054711C>T						NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000262510.6_Silent_p.N29N	p.N29N			Q86WI3	NLRC5_HUMAN			3	312	+		all_neural(199;0.225)	29					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.87C>T	CCDS10773.1																																																																																				0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	44	0	0	0	1	0	4	44				
AMMECR1L	83607	broad.mit.edu	37	2	128628858	128628858	+	Silent	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:128628858A>G	ENST00000272647.5	-	4	743	c.483T>C	c.(481-483)aaT>aaC	p.N161N	AMMECR1L_ENST00000393001.1_Silent_p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	161	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTGAATGAAGATTCATGGCTG	0.448																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(481-483)aaT>aaC		AMMECR1-like							76.0	74.0	75.0					2																	128628858		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128628858A>G		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.483T>C	2.37:g.128628858A>G						AMMECR1L_ENST00000393001.1_Silent_p.N161N	p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	4	743	-	Colorectal(110;0.1)		161			AMMECR1.		B4E276	Silent	SNP	ENST00000272647.5	37	c.483T>C	CCDS2152.1																																																																																				0.448	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		21	25	0	0	0	1	0	21	25				
FRY	10129	broad.mit.edu	37	13	32653043	32653043	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr13:32653043C>T	ENST00000380250.3	+	2	639	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	48						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGAAAGGGCCGCCAACCATG	0.502																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(142-144)cCg>cTg		furry homolog (Drosophila)							228.0	231.0	230.0					13																	32653043		1977	4157	6134	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32653043C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.143C>T	13.37:g.32653043C>T	ENSP00000369600:p.Pro48Leu						p.P48L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	2	639	+		Lung SC(185;0.0271)	48					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.143C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139393	0.94560	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.22945	1.93	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.65975	2.015	0.80722	D	1	B	0.28636	0.218	B	0.12837	0.008	T	0.06162	-1.0842	10	0.54805	T	0.06	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	48	Q5TBA9	FRY_HUMAN	L	48;45	ENSP00000369600:P48L	ENSP00000369600:P48L	P	+	2	0	FRY	31551043	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	7.207000	0.77899	2.770000	0.95276	0.655000	0.94253	CCG		0.502	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		94	147	0	0	0	1	0	94	147				
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1255-1257)Cga>Tga		chromosome 10 open reading frame 76							105.0	98.0	100.0					10																	103753315		1815	4071	5886	SO:0001587	stop_gained	79591					integral to membrane		g.chr10:103753315G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1255C>T	10.37:g.103753315G>A	ENSP00000359050:p.Arg419*						p.R419*	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	17	1374	-		Colorectal(252;0.123)	419					Q2TB87|Q9H8Z9	Nonsense_Mutation	SNP	ENST00000370033.4	37	c.1255C>T	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	36	5.971913	0.97162	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.75	4.85	0.62838	.	0.055918	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9236	14.7233	0.69323	0.0694:0.0:0.9306:0.0	.	.	.	.	X	419	.	ENSP00000359050:R419X	R	-	1	2	C10orf76	103743305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	1.445000	0.47624	0.491000	0.48974	CGA		0.313	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		17	11	0	0	0	1	0	17	11				
CHRNA4	1137	broad.mit.edu	37	20	61981649	61981649	+	Missense_Mutation	SNP	T	T	C	rs371777027		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:61981649T>C	ENST00000370263.4	-	5	1335	c.1114A>G	c.(1114-1116)Atc>Gtc	p.I372V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	372					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ATGGACTCGATGAGCCGCCGG	0.672																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1114-1116)Atc>Gtc		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						42.0	35.0	37.0					20																	61981649		2201	4300	6501	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981649T>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1114A>G	20.37:g.61981649T>C	ENSP00000359285:p.Ile372Val					CHRNA4_ENST00000463705.1_5'UTR	p.I372V	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1335	-	all_cancers(38;1.71e-10)		372					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1114A>G	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483285	0.26598	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85861	-2.04	4.41	2.02	0.26589	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.566480	0.01360	U	0.012216	T	0.81346	0.4803	L	0.42487	1.325	0.49915	D	0.999839	B;B	0.23058	0.079;0.0	B;B	0.26310	0.068;0.012	T	0.57154	-0.7860	10	0.15066	T	0.55	.	9.3979	0.38415	0.0:0.1594:0.0:0.8406	.	301;372	Q4VAQ5;P43681	.;ACHA4_HUMAN	V	278;372;301	ENSP00000359285:I372V	ENSP00000359280:I278V	I	-	1	0	CHRNA4	61452093	1.000000	0.71417	0.977000	0.42913	0.537000	0.34900	2.391000	0.44424	0.630000	0.30394	0.533000	0.62120	ATC		0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			5	19	0	0	0	1	0	5	19				
BTN3A2	11118	broad.mit.edu	37	6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A	rs373600244	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:26370798G>A	ENST00000356386.2	+	5	870	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	228					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TTCCCTCCTCGGCCTGGAAAA	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		17048	0.0		0.001	False		,,,				2504	0.001					ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(682-684)Ggc>Agc		butyrophilin, subfamily 3, member A2		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	109.0	107.0	108.0		682,556,613,682,682	-2.8	0.0	6		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BTN3A2	NM_007047.3,NM_001197249.1,NM_001197248.1,NM_001197247.1,NM_001197246.1	56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	228/335,186/293,205/312,228/335,228/335	26370798	1,13005	2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370798G>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.682G>A	6.37:g.26370798G>A	ENSP00000348751:p.Gly228Ser					BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S	p.G228S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	870	+			228					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.682G>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	6.765	0.509998	0.12883	0.0	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.12255	2.7;3.44;3.44;3.44;3.44;3.44;3.44	2.16	-2.77	0.05877	Immunoglobulin-like fold (1);	.	.	.	.	T	0.03608	0.0103	L	0.50847	1.595	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.08055	0.003;0.001	T	0.41822	-0.9487	9	0.39692	T	0.17	.	6.7759	0.23619	0.4977:0.0:0.5023:0.0	.	205;228	F8W6E0;P78410	.;BT3A2_HUMAN	S	186;228;228;228;205;228;228;186	ENSP00000435952:G186S;ENSP00000432138:G228S;ENSP00000348751:G228S;ENSP00000380140:G205S;ENSP00000366937:G228S;ENSP00000380152:G228S;ENSP00000442687:G186S	ENSP00000348751:G228S	G	+	1	0	BTN3A2	26478777	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.876000	0.04201	-0.724000	0.04908	-2.079000	0.00380	GGC		0.537	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			6	86	0	0	0	1	0	6	86				
TTN	7273	broad.mit.edu	37	2	179640529	179640529	+	Missense_Mutation	SNP	C	C	T	rs150884428		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179640529C>T	ENST00000591111.1	-	28	6286	c.6062G>A	c.(6061-6063)cGa>cAa	p.R2021Q	TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q|TTN_ENST00000589042.1_Missense_Mutation_p.R2021Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q			Q8WZ42	TITIN_HUMAN	titin	12808					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTTCTTTCGAGACTTGAG	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6061-6063)cGa>cAa		titin							133.0	138.0	137.0					2																	179640529		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640529C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6062G>A	2.37:g.179640529C>T	ENSP00000465570:p.Arg2021Gln					TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2021Q|TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q	p.R2021Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6286	-			1783					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6062G>A		.	.	.	.	.	.	.	.	.	.	C	13.55	2.269774	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63913	-0.07;0.11;0.09;0.08;0.25	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.72170	0.3427	L	0.34521	1.04	0.41863	D	0.990236	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.992;0.992;0.992;0.999	T	0.76127	-0.3073	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1975;1975;1975;2021;2021	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2021;1975;1975;1975;1975;2021	ENSP00000343764:R2021Q;ENSP00000434586:R1975Q;ENSP00000340554:R1975Q;ENSP00000352154:R1975Q;ENSP00000354117:R2021Q	ENSP00000340554:R1975Q	R	-	2	0	TTN	179348774	1.000000	0.71417	0.939000	0.37840	0.778000	0.44026	7.779000	0.85648	2.387000	0.81309	0.609000	0.83330	CGA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	159	0	0	0	1	0	21	159				
FAM47C	442444	broad.mit.edu	37	X	37026705	37026705	+	Silent	SNP	C	C	T	rs149618786	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:37026705C>T	ENST00000358047.3	+	1	274	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74								p.D74D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCGCCGTGACGAGTTTTTAC	0.527																																						ENST00000358047.3																			1	Substitution - coding silent(1)	p.D74D(1)	ovary(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(220-222)gaC>gaT		family with sequence similarity 47, member C		C		2,3831		0,2,0,1629,571	78.0	71.0	74.0		222	-1.0	0.0	X	dbSNP_134	74	5,6723		0,2,3,2426,1869	no	coding-synonymous	FAM47C	NM_001013736.2		0,4,3,4055,2440	TT,TC,T,CC,C		0.0743,0.0522,0.0663		74/1036	37026705	7,10554	2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37026705C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.222C>T	X.37:g.37026705C>T							p.D74D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	274	+			74					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.222C>T	CCDS35227.1																																																																																				0.527	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		33	9	0	0	0	1	0	33	9				
PRB4	5545	broad.mit.edu	37	12	11461583	11461583	+	Missense_Mutation	SNP	C	C	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:11461583C>G	ENST00000535904.1	-	3	367	c.334G>C	c.(334-336)Ggt>Cgt	p.G112R	PRB4_ENST00000279575.1_Missense_Mutation_p.G112R|PRB4_ENST00000445719.2_Splice_Site_p.G112R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	133	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGGGTACCTTGGGACTGG	0.607										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(334-336)Ggt>Cgt		proline-rich protein BstNI subfamily 4							147.0	157.0	153.0					12																	11461583		2202	4299	6501	SO:0001583	missense	5545					extracellular region		g.chr12:11461583C>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.334G>C	12.37:g.11461583C>G	ENSP00000442834:p.Gly112Arg	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Splice_Site_p.G112_splice|PRB4_ENST00000535904.1_Missense_Mutation_p.G112R	p.G112R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	367	-			154			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.334G>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	4.465	0.086165	0.08583	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.07688	3.62;3.62;3.17	0.458	-0.917	0.10485	.	.	.	.	.	T	0.13670	0.0331	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.15492	-1.0435	8	0.49607	T	0.09	.	.	.	.	.	112	E9PAL0	.	R	112	ENSP00000279575:G112R;ENSP00000442834:G112R;ENSP00000412740:G112R	ENSP00000279575:G112R	G	-	1	0	PRB4	11352850	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.507000	0.00961	-0.639000	0.05502	0.197000	0.17608	GGT;GGT;GGA		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		8	310	0	0	0	1	0	8	310				
TRPM5	29850	broad.mit.edu	37	11	2432644	2432644	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:2432644C>T	ENST00000155858.6	-	18	2728	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H	TRPM5_ENST00000452833.1_Missense_Mutation_p.R909H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACCCGGCGGAAGATCCA	0.627																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2725-2727)cGc>cAc		transient receptor potential cation channel, subfamily M, member 5							32.0	35.0	34.0					11																	2432644		2199	4297	6496	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432644C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2720G>A	11.37:g.2432644C>T	ENSP00000155858:p.Arg907His					TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H|TRPM5_ENST00000155858.6_Missense_Mutation_p.R907H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H	p.R909H			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2734	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	907						Missense_Mutation	SNP	ENST00000155858.6	37	c.2726G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770979	0.90108	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	3.89	3.89	0.44902	Ion transport (1);	0.136471	0.48286	D	0.000186	D	0.84515	0.5489	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87720	0.2572	10	0.87932	D	0	-27.2321	15.2605	0.73617	0.0:1.0:0.0:0.0	.	907;909;907	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	901;907;909;907;907	ENSP00000434383:R901H;ENSP00000155858:R907H;ENSP00000387965:R909H;ENSP00000434121:R907H;ENSP00000436809:R907H	ENSP00000155858:R907H	R	-	2	0	TRPM5	2389220	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.407000	0.80029	1.928000	0.55862	0.561000	0.74099	CGC		0.627	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		4	40	0	0	0	1	0	4	40				
MRGPRE	116534	broad.mit.edu	37	11	3249242	3249242	+	Missense_Mutation	SNP	G	G	A	rs555203753	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:3249242G>A	ENST00000389832.5	-	2	1094	c.788C>T	c.(787-789)gCg>gTg	p.A263V	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGGCCGCGCAGTGCAC	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		14988	0.0		0.0	False		,,,				2504	0.002					ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(787-789)gCg>gTg		MAS-related GPR, member E							13.0	19.0	17.0					11																	3249242		1905	4101	6006	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249242G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.788C>T	11.37:g.3249242G>A	ENSP00000374482:p.Ala263Val					AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V	p.A263V			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1094	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	262					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.788C>T		.	.	.	.	.	.	.	.	.	.	g	12.76	2.035104	0.35893	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.35605	1.3	3.6	-3.58	0.04597	GPCR, rhodopsin-like superfamily (1);	1.222060	0.06421	U	0.722385	T	0.23094	0.0558	L	0.36672	1.1	0.09310	N	1	P	0.46578	0.88	B	0.32677	0.15	T	0.36817	-0.9732	10	0.45353	T	0.12	-5.5822	11.4443	0.50114	0.0957:0.6904:0.2139:0.0	.	262	Q86SM8	MRGRE_HUMAN	V	263;262	ENSP00000393251:A263V	ENSP00000374482:A262V	A	-	2	0	MRGPRE	3205818	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.004000	0.12878	-0.492000	0.06687	0.462000	0.41574	GCG		0.672	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		6	9	0	0	0	1	0	6	9				
CHST11	50515	broad.mit.edu	37	12	105151445	105151445	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:105151445C>T	ENST00000303694.5	+	3	1362	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	308					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAAGTCTACGAGAACTACT	0.473																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(922-924)aCg>aTg		carbohydrate (chondroitin 4) sulfotransferase 11							79.0	73.0	75.0					12																	105151445		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151445C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.923C>T	12.37:g.105151445C>T	ENSP00000305725:p.Thr308Met					CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	p.T308M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1362	+			308					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.923C>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584345	0.65992	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.74315	-0.83;-0.83	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.82716	2.605	0.80722	D	1	D;P	0.55385	0.971;0.95	P;P	0.50405	0.507;0.64	D	0.83452	0.0049	10	0.48119	T	0.1	-23.5302	14.8824	0.70542	0.1447:0.8553:0.0:0.0	.	303;308	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	M	303;308	ENSP00000450004:T303M;ENSP00000305725:T308M	ENSP00000305725:T308M	T	+	2	0	CHST11	103675575	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.818000	0.86416	1.168000	0.42723	0.555000	0.69702	ACG		0.473	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		14	22	0	0	0	1	0	14	22				
ATP2B2	491	broad.mit.edu	37	3	10417231	10417231	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:10417231C>T	ENST00000352432.4	-	10	1368	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	ATP2B2_ENST00000397077.1_Silent_p.T388T|ATP2B2_ENST00000383800.4_Silent_p.T388T|ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	433					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTAGACGGGCGTGCACTCAG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1162-1164)acG>acA		ATPase, Ca++ transporting, plasma membrane 2							89.0	77.0	81.0					3																	10417231		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417231C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1299G>A	3.37:g.10417231C>T						ATP2B2_ENST00000383800.4_Silent_p.T388T|ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000352432.4_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T	p.T388T			Q01814	AT2B2_HUMAN			10	1739	-			433					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1164G>A	CCDS33701.1																																																																																				0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		24	45	0	0	0	1	0	24	45				
CDC14B	8555	broad.mit.edu	37	9	99284801	99284801	+	Missense_Mutation	SNP	C	C	T	rs371730723		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:99284801C>T	ENST00000375241.1	-	12	1781	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T|CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T|CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	444					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AGAGGAATAGCGTTTGTTTTG	0.423																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(1330-1332)Gct>Act		cell division cycle 14B		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	252.0	179.0	204.0		1219,1330,1330	-0.5	0.0	9		204	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC14B	NM_001077181.1,NM_003671.3,NM_033331.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	407/462,444/460,444/499	99284801	1,13005	2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99284801C>T	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1330G>A	9.37:g.99284801C>T	ENSP00000364389:p.Ala444Thr					CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T	p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			12	1781	-		Acute lymphoblastic leukemia(62;0.0559)	444					A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.1330G>A	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202232	0.22121	0.0	1.16E-4	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	D;D;D;D;D;D	0.92348	-3.01;-2.94;-3.0;-2.92;-3.02;-3.02	5.13	-0.466	0.12153	.	0.381500	0.28448	N	0.015314	T	0.69958	0.3169	N	0.00771	-1.2	0.09310	N	1	B;B;B	0.20988	0.002;0.004;0.05	B;B;B	0.18263	0.002;0.003;0.021	T	0.65717	-0.6100	10	0.18710	T	0.47	-20.7101	5.9798	0.19401	0.2957:0.5156:0.0:0.1887	.	444;444;407	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	T	444;444;444;407;444;444	ENSP00000265659:A444T;ENSP00000364389:A444T;ENSP00000364388:A444T;ENSP00000364390:A407T;ENSP00000420572:A444T;ENSP00000364384:A444T	ENSP00000265659:A444T	A	-	1	0	CDC14B	98324622	0.000000	0.05858	0.001000	0.08648	0.953000	0.61014	-0.862000	0.04263	0.091000	0.17302	0.650000	0.86243	GCT		0.423	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		28	41	0	0	0	1	0	28	41				
TUBB6	84617	broad.mit.edu	37	18	12325299	12325299	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:12325299C>T	ENST00000317702.5	+	4	745	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	171					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAGCGTCATGCCCTCGCCCAA	0.617																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(511-513)Ccc>Tcc		tubulin, beta 6 class V							175.0	139.0	152.0					18																	12325299		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325299C>T	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.511C>T	18.37:g.12325299C>T	ENSP00000318697:p.Pro171Ser					TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron	p.P171S			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	745	+			171					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.511C>T	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721169	0.68959	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.89681	-2.55	5.04	5.04	0.67666	Tubulin/FtsZ, GTPase domain (4);	0.049922	0.85682	D	0.000000	D	0.96648	0.8906	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.97110	0.814;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	18.7482	0.91802	0.0:1.0:0.0:0.0	.	143;171	B4DP54;Q9BUF5	.;TBB6_HUMAN	S	171;99;143	ENSP00000318697:P171S	ENSP00000318697:P171S	P	+	1	0	TUBB6	12315299	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.669000	0.83911	2.506000	0.84524	0.462000	0.41574	CCC		0.617	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		4	119	0	0	0	1	0	4	119				
CBX6	23466	broad.mit.edu	37	22	39262562	39262562	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr22:39262562G>A	ENST00000407418.3	-	5	1014	c.891C>T	c.(889-891)ccC>ccT	p.P297P	CBX6_ENST00000216083.6_Silent_p.P279P			O95503	CBX6_HUMAN	chromobox homolog 6	297					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCACGGTCTCGGGGAGGAGCT	0.741																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(889-891)ccC>ccT		chromobox homolog 6							5.0	6.0	5.0					22																	39262562		2058	4090	6148	SO:0001819	synonymous_variant	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262562G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.891C>T	22.37:g.39262562G>A						CBX6_ENST00000216083.6_Silent_p.P279P	p.P297P			O95503	CBX6_HUMAN			5	1014	-	Melanoma(58;0.04)		297					A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	c.891C>T	CCDS13980.1																																																																																				0.741	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		3	10	0	0	0	1	0	3	10				
ASAP3	55616	broad.mit.edu	37	1	23758408	23758408	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:23758408C>T	ENST00000336689.3	-	23	2371	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H|ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	776					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACTTCAGAACGATCTGGAAT	0.502																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2326-2328)cGt>cAt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							26.0	30.0	29.0					1																	23758408		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23758408C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2327G>A	1.37:g.23758408C>T	ENSP00000338769:p.Arg776His					ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H|ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H|ASAP3_ENST00000484906.1_5'UTR	p.R776H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			23	2371	-			776					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.2327G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853606	0.17106	.	.	ENSG00000088280	ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.54071	1.95;0.59;0.59	4.71	0.591	0.17465	.	47.639000	0.00166	N	0.000000	T	0.41351	0.1155	N	0.24115	0.695	0.09310	N	0.999999	B;B;B;B	0.13594	0.008;0.004;0.001;0.002	B;B;B;B	0.10450	0.005;0.002;0.001;0.001	T	0.29305	-1.0016	10	0.45353	T	0.12	.	7.8811	0.29623	0.0:0.6305:0.0:0.3695	.	767;666;299;776	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	H	280;776;76;767	ENSP00000436150:R280H;ENSP00000338769:R776H;ENSP00000408826:R767H	ENSP00000338769:R776H	R	-	2	0	ASAP3	23630995	0.735000	0.28153	0.090000	0.20809	0.750000	0.42670	0.577000	0.23758	0.008000	0.14787	-1.429000	0.01096	CGT		0.502	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		10	21	0	0	0	1	0	10	21				
NDUFV3	4731	broad.mit.edu	37	21	44323624	44323624	+	Intron	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:44323624G>C	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.A168P|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TGATGATGAGGCTGACGTTTC	0.542																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(502-504)Gct>Cct		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						94.0	95.0	95.0					21																	44323624		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323624G>C		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5350G>C	21.37:g.44323624G>C						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.A168P	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	571	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.502G>C	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934651	0.34189	.	.	ENSG00000160194	ENST00000354250	T	0.47177	0.85	5.84	3.08	0.35506	.	1.002100	0.08042	N	0.995228	T	0.28433	0.0703	N	0.14661	0.345	0.19945	N	0.999947	P	0.50617	0.937	B	0.37550	0.253	T	0.07177	-1.0786	10	0.34782	T	0.22	-0.0222	8.8934	0.35449	0.2976:0.0:0.7024:0.0	.	168	P56181-2	.	P	168	ENSP00000346196:A168P	ENSP00000346196:A168P	A	+	1	0	NDUFV3	43196693	0.933000	0.31639	0.041000	0.18516	0.002000	0.02628	1.117000	0.31234	0.392000	0.25172	-0.150000	0.13652	GCT		0.542	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			49	119	0	0	0	1	0	49	119				
GNA13	10672	broad.mit.edu	37	17	63049735	63049735	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:63049735G>A	ENST00000439174.2	-	2	640	c.395C>T	c.(394-396)gCa>gTa	p.A132V	GNA13_ENST00000541118.1_Missense_Mutation_p.A37V|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	132					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCCTTGGGCTGCCATGGGGGC	0.488																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(394-396)gCa>gTa		guanine nucleotide binding protein (G protein), alpha 13							132.0	132.0	132.0					17																	63049735		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63049735G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.395C>T	17.37:g.63049735G>A	ENSP00000400717:p.Ala132Val					GNA13_ENST00000541118.1_Missense_Mutation_p.A37V	p.A132V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			2	640	-			132					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.395C>T	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924868	0.34002	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88201	-2.35;-2.35	5.42	-0.0457	0.13850	G protein alpha subunit, helical insertion (2);	2.399980	0.01467	N	0.016107	T	0.78629	0.4313	N	0.14661	0.345	0.32711	N	0.511547	B	0.15141	0.012	B	0.04013	0.001	T	0.68104	-0.5497	10	0.06494	T	0.89	.	9.6309	0.39778	0.5761:0.0:0.4239:0.0	.	132	Q14344	GNA13_HUMAN	V	132;37;107	ENSP00000400717:A132V;ENSP00000439647:A37V	ENSP00000239138:A107V	A	-	2	0	GNA13	60480197	1.000000	0.71417	0.505000	0.27651	0.959000	0.62525	2.265000	0.43311	-0.004000	0.14419	0.655000	0.94253	GCA		0.488	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		5	297	0	0	0	1	0	5	297				
MPP6	51678	broad.mit.edu	37	7	24720070	24720070	+	Silent	SNP	G	G	A	rs139735308		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:24720070G>A	ENST00000222644.5	+	11	1627	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	MPP6_ENST00000396475.2_Silent_p.P459P|MPP6_ENST00000409761.1_Silent_p.P347P			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCGGCTCCGGAGCTAGAGA	0.413																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(1375-1377)ccG>ccA		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		G		0,4406		0,0,2203	159.0	147.0	151.0		1377	-7.4	1.0	7	dbSNP_134	151	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MPP6	NM_016447.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		459/541	24720070	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51678				protein complex assembly		protein binding	g.chr7:24720070G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1377G>A	7.37:g.24720070G>A						MPP6_ENST00000409761.1_Silent_p.P347P|MPP6_ENST00000222644.4_Silent_p.P459P	p.P459P	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			12	1676	+			459			Guanylate kinase-like.		B2RAF0	Silent	SNP	ENST00000222644.5	37	c.1377G>A	CCDS5388.1																																																																																				0.413	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			49	118	0	0	0	1	0	49	118				
GSDMC	56169	broad.mit.edu	37	8	130789815	130789815	+	Missense_Mutation	SNP	G	G	A	rs369692449		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:130789815G>A	ENST00000276708.4	-	2	900	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	7						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTGCTAATGCGTTCCAACATG	0.408																																						ENST00000276708.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(19-21)Cgc>Tgc		gasdermin C		G	CYS/ARG	0,4406		0,0,2203	136.0	124.0	128.0		19	-6.6	0.0	8		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	GSDMC	NM_031415.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	7/509	130789815	1,13005	2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789815G>A	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.19C>T	8.37:g.130789815G>A	ENSP00000276708:p.Arg7Cys						p.R7C	NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN			2	900	-			7					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.19C>T	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	9.635	1.137332	0.21123	0.0	1.16E-4	ENSG00000147697	ENST00000276708	T	0.26373	1.74	4.01	-6.58	0.01836	.	4.045600	0.00397	N	0.000046	T	0.13372	0.0324	N	0.21282	0.65	0.09310	N	1	B	0.31351	0.32	B	0.23716	0.048	T	0.08911	-1.0699	10	0.44086	T	0.13	.	3.6491	0.08196	0.0859:0.2014:0.4419:0.2708	.	7	Q9BYG8	GSDMC_HUMAN	C	7	ENSP00000276708:R7C	ENSP00000276708:R7C	R	-	1	0	GSDMC	130858997	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.896000	0.00706	-1.665000	0.01477	-0.424000	0.05967	CGC		0.408	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			28	47	0	0	0	1	0	28	47				
DNAH9	1770	broad.mit.edu	37	17	11666834	11666834	+	Missense_Mutation	SNP	C	C	T	rs568542419		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:11666834C>T	ENST00000262442.4	+	36	7141	c.7073C>T	c.(7072-7074)aCg>aTg	p.T2358M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2358					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCTGACCACGGAGGACATC	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21587	0.0		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7072-7074)aCg>aTg		dynein, axonemal, heavy chain 9							145.0	134.0	138.0					17																	11666834		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666834C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7073C>T	17.37:g.11666834C>T	ENSP00000262442:p.Thr2358Met					DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7141	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2358					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7073C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757530	0.31137	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25912	1.77;1.77	4.65	-0.994	0.10225	.	0.634340	0.16558	N	0.209176	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	P	0.40398	0.716	B	0.39379	0.298	T	0.16719	-1.0393	10	0.87932	D	0	.	3.939	0.09318	0.4193:0.3876:0.072:0.1211	.	2358	Q9NYC9	DYH9_HUMAN	M	2358;2358;940	ENSP00000262442:T2358M;ENSP00000414874:T2358M	ENSP00000262442:T2358M	T	+	2	0	DNAH9	11607559	0.000000	0.05858	0.062000	0.19696	0.503000	0.33858	0.172000	0.16704	-0.067000	0.12976	-0.266000	0.10368	ACG		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		32	68	0	0	0	1	0	32	68				
MAGEB6	158809	broad.mit.edu	37	X	26212102	26212102	+	Missense_Mutation	SNP	G	G	A	rs369371623		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:26212102G>A	ENST00000379034.1	+	2	288	c.139G>A	c.(139-141)Gct>Act	p.A47T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	47	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCTTCTCGCGCTTGTCTGGG	0.552																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(139-141)Gct>Act		melanoma antigen family B, 6		G	THR/ALA	1,3832		0,1,1630,571	116.0	98.0	104.0		139	-3.3	0.0	X		104	0,6728		0,0,2428,1872	no	missense	MAGEB6	NM_173523.2	58	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	47/408	26212102	1,10560	2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212102G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.139G>A	X.37:g.26212102G>A	ENSP00000368320:p.Ala47Thr						p.A47T	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	288	+			47			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.139G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	1.453	-0.564410	0.03939	2.61E-4	0.0	ENSG00000176746	ENST00000379034	T	0.04234	3.67	1.67	-3.33	0.04958	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02230	0.0069	N	0.24115	0.695	0.09310	N	1	B	0.28933	0.228	B	0.14023	0.01	T	0.47787	-0.9090	9	0.10377	T	0.69	.	4.064	0.09851	0.0:0.3921:0.3826:0.2253	.	47	Q8N7X4	MAGB6_HUMAN	T	47	ENSP00000368320:A47T	ENSP00000368320:A47T	A	+	1	0	MAGEB6	26122023	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.112000	0.02984	-0.328000	0.08392	GCT		0.552	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		50	8	0	0	0	1	0	50	8				
ELK1	2002	broad.mit.edu	37	X	47500629	47500629	+	Splice_Site	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:47500629A>G	ENST00000247161.3	-	2	310		c.e2+1		ELK1_ENST00000592066.1_Splice_Site|ELK1_ENST00000343894.4_Splice_Site|ELK1_ENST00000376983.3_Splice_Site	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family						cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GAGAGACTGTACCTTGTCATA	0.478																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.e2+1		ELK1, member of ETS oncogene family							103.0	85.0	91.0					X																	47500629		2203	4300	6503	SO:0001630	splice_region_variant	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47500629A>G	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.210+1T>C	X.37:g.47500629A>G						ELK1_ENST00000343894.4_Splice_Site|ELK1_ENST00000376983.3_Splice_Site|ELK1_ENST00000592066.1_Splice_Site		NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			2	310	-								B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Splice_Site	SNP	ENST00000247161.3	37		CCDS14283.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945394	0.53079	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.607	0.51037	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELK1	47385573	1.000000	0.71417	0.994000	0.49952	0.567000	0.35839	9.031000	0.93731	1.869000	0.54173	0.412000	0.27726	.		0.478	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229	Intron	25	4	0	0	0	1	0	25	4				
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A	rs185822333	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		17507	0.002		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(994-996)cGc>cAc		solute carrier family 4 (anion exchanger), member 3							38.0	44.0	42.0					2																	220497018		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220497018G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.995G>A	2.37:g.220497018G>A	ENSP00000350756:p.Arg332His					SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H	p.R332H			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1507	+		Renal(207;0.0183)	332					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.995G>A	CCDS2445.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.185146	0.78677	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	3.85	2.96	0.34315	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.215051	0.40144	N	0.001179	T	0.69196	0.3084	N	0.08118	0	0.30454	N	0.775007	P;P	0.49961	0.818;0.93	B;P	0.53401	0.416;0.725	T	0.67791	-0.5579	10	0.62326	D	0.03	.	6.4671	0.21987	0.2241:0.0:0.7759:0.0	.	332;359	P48751;P48751-3	B3A3_HUMAN;.	H	332;332;359;359;332;134	ENSP00000350756:R332H;ENSP00000362865:R332H;ENSP00000273063:R359H;ENSP00000362867:R359H;ENSP00000314006:R332H;ENSP00000414722:R134H	ENSP00000273063:R359H	R	+	2	0	SLC4A3	220205262	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.221000	0.58574	2.126000	0.65437	0.561000	0.74099	CGC		0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		23	22	0	0	0	1	0	23	22				
COLEC12	81035	broad.mit.edu	37	18	346800	346800	+	Silent	SNP	C	C	T	rs374626477		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:346800C>T	ENST00000400256.3	-	5	1029	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	274					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTGGCCAACGCAGAGTTGT	0.502																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(820-822)gcG>gcA		collectin sub-family member 12		C		0,4406		0,0,2203	143.0	118.0	127.0		822	3.3	1.0	18		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COLEC12	NM_130386.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		274/743	346800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346800C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.822G>A	18.37:g.346800C>T							p.A274A	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	1029	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	274					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.822G>A	CCDS32782.1																																																																																				0.502	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			26	52	0	0	0	1	0	26	52				
GYS2	2998	broad.mit.edu	37	12	21728850	21728850	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:21728850C>T	ENST00000261195.2	-	3	699	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	149					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATCATTGGCTTCTCGGTCA	0.438																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(445-447)Gcc>Acc		glycogen synthase 2 (liver)							141.0	131.0	134.0					12																	21728850		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21728850C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.445G>A	12.37:g.21728850C>T	ENSP00000261195:p.Ala149Thr						p.A149T	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			3	699	-			149					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.445G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872416	0.33069	.	.	ENSG00000111713	ENST00000261195	T	0.62639	0.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	N	0.05199	-0.095	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.51529	-0.8694	10	0.02654	T	1	-19.87	18.9212	0.92526	0.0:1.0:0.0:0.0	.	149	P54840	GYS2_HUMAN	T	149	ENSP00000261195:A149T	ENSP00000261195:A149T	A	-	1	0	GYS2	21620117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.451000	0.66632	2.781000	0.95711	0.650000	0.86243	GCC		0.438	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		45	51	0	0	0	1	0	45	51				
DEFB112	245915	broad.mit.edu	37	6	50011490	50011490	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:50011490G>A	ENST00000322246.4	-	2	139	c.140C>T	c.(139-141)aCc>aTc	p.T47I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	47					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTACTAAAGGTGATATGGTG	0.408																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(139-141)aCc>aTc		defensin, beta 112							155.0	125.0	135.0					6																	50011490		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011490G>A	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.140C>T	6.37:g.50011490G>A	ENSP00000319126:p.Thr47Ile						p.T47I	NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN			2	139	-	Lung NSC(77;0.042)		47					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.140C>T	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	G	2.345	-0.350165	0.05173	.	.	ENSG00000180872	ENST00000322246	T	0.21734	1.99	3.43	-6.86	0.01676	.	3.846670	0.01111	N	0.005577	T	0.01905	0.0060	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23226	-1.0194	10	0.26408	T	0.33	3.3565	4.401	0.11386	0.2004:0.1419:0.5257:0.132	.	47	Q30KQ8	DB112_HUMAN	I	47	ENSP00000319126:T47I	ENSP00000319126:T47I	T	-	2	0	DEFB112	50119449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.530000	0.00944	-1.771000	0.01293	-0.369000	0.07265	ACC		0.408	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		5	72	0	0	0	1	0	5	72				
TEC	7006	broad.mit.edu	37	4	48139472	48139472	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:48139472T>C	ENST00000381501.3	-	18	2014	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	619	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGTTCATCTATTGTGCGCA	0.443																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1855-1857)atA>atG		tec protein tyrosine kinase							128.0	120.0	122.0					4																	48139472		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48139472T>C	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1857A>G	4.37:g.48139472T>C	ENSP00000370912:p.Ile619Met						p.I619M	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			18	2014	-			619			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1857A>G	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450852	0.43531	.	.	ENSG00000135605	ENST00000381501	T	0.62639	0.01	5.25	-2.45	0.06481	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.072966	0.51477	D	0.000082	T	0.61652	0.2364	L	0.42632	1.34	0.37997	D	0.934108	D	0.67145	0.996	D	0.66351	0.943	T	0.62388	-0.6865	10	0.72032	D	0.01	.	4.6604	0.12639	0.1142:0.074:0.4528:0.359	.	619	P42680	TEC_HUMAN	M	619	ENSP00000370912:I619M	ENSP00000370912:I619M	I	-	3	3	TEC	47834229	0.972000	0.33761	0.972000	0.41901	0.094000	0.18550	-0.122000	0.10627	-0.267000	0.09325	-0.438000	0.05819	ATA		0.443	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			11	26	0	0	0	1	0	11	26				
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	rs121918454		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		A -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.|A -> S (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|A -> T (in JMML). {ECO:0000269|PubMed:12717436}.|A -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		38	Substitution - Missense(38)	p.A72V(35)|p.A72D(3)	haematopoietic_and_lymphoid_tissue(38)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM013417	PTPN11	M	rs121918454	c.(214-216)gCc>gAc		protein tyrosine phosphatase, non-receptor type 11							154.0	142.0	146.0					12																	112888199		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888199C>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.215C>A	12.37:g.112888199C>A	ENSP00000340944:p.Ala72Asp					PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			3	413	+			72		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.215C>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940643	0.92526	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96073	-3.9;-3.9	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	L	0.33624	1.015	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71184	0.938;0.972	D	0.96297	0.9218	10	0.62326	D	0.03	.	14.8021	0.69924	0.0:0.9312:0.0:0.0688	.	72;72	Q06124-2;Q06124-3	.;.	D	72	ENSP00000376376:A72D;ENSP00000340944:A72D	ENSP00000340944:A72D	A	+	2	0	PTPN11	111372582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	1.496000	0.48567	0.650000	0.86243	GCC		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			5	97	1	0	1.23904e-05	1	1.25222e-05	5	97				
TRGV2	6974	broad.mit.edu	37	7	38402510	38402510	+	RNA	SNP	T	T	A	rs3999869		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:38402510T>A	ENST00000426402.2	-	0	498									T cell receptor gamma variable 2																		CATTTTCAATTAGATTTCGCA	0.463																																						ENST00000426402.2																			0																				95.0	88.0	90.0					7																	38402510		1894	4109	6003			0							g.chr7:38402510T>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402510T>A														0	498	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.463	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		5	89	0	0	0	1	0	5	89				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	11	1	0	0.004672	1	0.004672	3	11				
NUP155	9631	broad.mit.edu	37	5	37293066	37293066	+	Missense_Mutation	SNP	T	T	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:37293066T>G	ENST00000231498.3	-	34	4155	c.3952A>C	c.(3952-3954)Aag>Cag	p.K1318Q	NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q|NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1318					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGGCTTCTTCATTCTGTTC	0.299																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(3952-3954)Aag>Cag		nucleoporin 155kDa							74.0	85.0	81.0					5																	37293066		2203	4290	6493	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37293066T>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3952A>C	5.37:g.37293066T>G	ENSP00000231498:p.Lys1318Gln					NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q	p.K1318Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4155	-	all_lung(31;0.000137)		1318					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.3952A>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202038	0.79127	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.77750	-1.12;-1.11;-1.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	L	0.47716	1.5	0.58432	D	0.999998	D;B	0.58268	0.982;0.415	P;B	0.54060	0.741;0.131	T	0.76337	-0.2996	10	0.22706	T	0.39	.	15.4811	0.75528	0.0:0.0:0.0:1.0	.	1254;1318	E9PF10;O75694	.;NU155_HUMAN	Q	1318;1259;1280;1254	ENSP00000231498:K1318Q;ENSP00000371265:K1259Q;ENSP00000422019:K1254Q	ENSP00000231498:K1318Q	K	-	1	0	NUP155	37328823	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.978000	0.76147	2.113000	0.64589	0.477000	0.44152	AAG		0.299	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		10	101	0	0	0	1	0	10	101				
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(229-231)caG>caA		TATA box binding protein							14.0	18.0	17.0					6																	170871055		1934	3804	5738	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871055G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A						TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	510	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	77			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.231G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	58	0	0	0	1	0	5	58				
CUBN	8029	broad.mit.edu	37	10	16957131	16957131	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:16957131G>T	ENST00000377833.4	-	47	7316	c.7251C>A	c.(7249-7251)gaC>gaA	p.D2417E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2417	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTATGCTGTCAGGAATGG	0.428																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7249-7251)gaC>gaA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						118.0	104.0	109.0					10																	16957131		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957131G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7251C>A	10.37:g.16957131G>T	ENSP00000367064:p.Asp2417Glu						p.D2417E	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			47	7316	-			2417			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7251C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388959	0.04932	.	.	ENSG00000107611	ENST00000377833	T	0.16457	2.34	5.01	-0.769	0.11009	CUB (5);	1.421110	0.04588	N	0.396181	T	0.08223	0.0205	N	0.21097	0.63	0.09310	N	1	B	0.24675	0.109	B	0.23852	0.049	T	0.20538	-1.0272	10	0.02654	T	1	.	0.9932	0.01461	0.1931:0.2573:0.3132:0.2365	.	2417	O60494	CUBN_HUMAN	E	2417	ENSP00000367064:D2417E	ENSP00000367064:D2417E	D	-	3	2	CUBN	16997137	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-0.039000	0.12124	0.113000	0.18004	0.585000	0.79938	GAC		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		31	11	1	0	2.47316e-13	1	2.70057e-13	31	11				
PCLO	27445	broad.mit.edu	37	7	82545708	82545708	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:82545708C>T	ENST00000333891.9	-	7	11931	c.11594G>A	c.(11593-11595)aGc>aAc	p.S3865N	PCLO_ENST00000437081.1_Missense_Mutation_p.S585N|PCLO_ENST00000423517.2_Missense_Mutation_p.S3865N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATAAACTGGCTGAATTCAGT	0.463																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11593-11595)aGc>aAc		piccolo presynaptic cytomatrix protein							457.0	452.0	454.0					7																	82545708		2027	4182	6209	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545708C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11594G>A	7.37:g.82545708C>T	ENSP00000334319:p.Ser3865Asn					PCLO_ENST00000437081.1_Missense_Mutation_p.S585N|PCLO_ENST00000333891.8_Missense_Mutation_p.S3865N	p.S3865N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11931	-			3796			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11594G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150279	0.06585	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16196	2.36;2.36	5.71	1.33	0.21861	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.27258	N	0.958712	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.27872	-1.0061	9	0.87932	D	0	.	4.653	0.12605	0.0:0.438:0.1846:0.3774	.	3796;3865;3865	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	3865;3865;585	ENSP00000334319:S3865N;ENSP00000388393:S3865N	ENSP00000334319:S3865N	S	-	2	0	PCLO	82383644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.231000	0.43009	0.348000	0.23949	-0.244000	0.11960	AGC		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		104	272	0	0	0	1	0	104	272				
NEBL	10529	broad.mit.edu	37	10	21462709	21462709	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:21462709G>A	ENST00000417816.2	-	1	407	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NEBL_ENST00000464278.1_5'UTR|NEBL-AS1_ENST00000439097.1_RNA|NEBL-AS1_ENST00000417845.1_RNA	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGGCAGTTGACTTTCTCGG	0.677																																						ENST00000417816.2																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(52-54)gtC>gtT		nebulette							51.0	50.0	50.0					10																	21462709		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21462709G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.54C>T	10.37:g.21462709G>A						NEBL_ENST00000464278.1_5'UTR	p.V18V	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN			1	407	-			0					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	37	c.54C>T	CCDS7133.1																																																																																				0.677	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		15	13	0	0	0	1	0	15	13				
THSD7A	221981	broad.mit.edu	37	7	11521486	11521486	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:11521486G>T	ENST00000423059.4	-	7	2197	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	649	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTGAGCAGGTGTGTGAGCA	0.562										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1945-1947)aCc>aAc		thrombospondin, type I, domain containing 7A							138.0	136.0	137.0					7																	11521486		2134	4244	6378	SO:0001583	missense	221981					integral to membrane		g.chr7:11521486G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1946C>A	7.37:g.11521486G>T	ENSP00000406482:p.Thr649Asn	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.T649N	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2197	-			649			TSP type-1 6.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1946C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336072	0.95758	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.70869	-0.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	M	0.87900	2.915	0.80722	D	1	D	0.55800	0.973	D	0.65233	0.933	D	0.86031	0.1513	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	649	Q9UPZ6	THS7A_HUMAN	N	649	ENSP00000406482:T649N	ENSP00000262042:T649N	T	-	2	0	THSD7A	11488011	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACC		0.562	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	108	1	0	1.23904e-05	1	1.25222e-05	5	108				
SPDEF	25803	broad.mit.edu	37	6	34511928	34511928	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:34511928G>A	ENST00000374037.3	-	2	719	c.305C>T	c.(304-306)gCg>gTg	p.A102V	SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	102					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CAGGCTGCCCGCTGGGGCTTG	0.677																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(304-306)gCg>gTg		SAM pointed domain containing ETS transcription factor							35.0	36.0	35.0					6																	34511928		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34511928G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.305C>T	6.37:g.34511928G>A	ENSP00000363149:p.Ala102Val					SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			2	719	-			102					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.305C>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145788	0.94603	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.13778	2.56;2.77	5.12	3.3	0.37823	.	0.521672	0.17229	N	0.182010	T	0.01730	0.0055	N	0.08118	0	0.09310	N	0.999998	B;B	0.20887	0.049;0.029	B;B	0.08055	0.003;0.001	T	0.48127	-0.9062	10	0.20519	T	0.43	.	8.8822	0.35380	0.0:0.6401:0.2839:0.0759	.	102;102	F5H778;O95238	.;SPDEF_HUMAN	V	102	ENSP00000363149:A102V;ENSP00000442715:A102V	ENSP00000363149:A102V	A	-	2	0	SPDEF	34619906	0.987000	0.35691	0.939000	0.37840	0.975000	0.68041	2.151000	0.42263	0.181000	0.19994	-0.194000	0.12790	GCG		0.677	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		16	16	0	0	0	1	0	16	16				
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578400G>T	ENST00000269305.4	-	5	719	c.530C>A	c.(529-531)cCc>cAc	p.P177H	TP53_ENST00000420246.2_Missense_Mutation_p.P177H|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000455263.2_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H|TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCATGGTGGGGGCAGCGCCT	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(529-531)cCc>cAc	Other conserved DNA damage response genes	tumor protein p53							48.0	48.0	48.0					17																	7578400		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578400G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.530C>A	17.37:g.7578400G>T	ENSP00000269305:p.Pro177His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000269305.4_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H|TP53_ENST00000455263.2_Missense_Mutation_p.P177H	p.P177H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	662	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.530C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495206	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	D	0.000000	D	0.99832	0.9924	M	0.81239	2.535	0.80722	D	1	P;P;B;D;P;P;P	0.58268	0.596;0.691;0.062;0.982;0.908;0.737;0.485	P;P;B;P;P;P;B	0.59221	0.53;0.65;0.085;0.854;0.782;0.697;0.4	D	0.96353	0.9260	10	0.72032	D	0.01	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177H;ENSP00000352610:P177H;ENSP00000269305:P177H;ENSP00000398846:P177H;ENSP00000391127:P177H;ENSP00000391478:P177H;ENSP00000425104:P45H;ENSP00000423862:P84H	ENSP00000269305:P177H	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	29	1	0	3.1745e-13	1	3.42701e-13	31	29				
NAA11	84779	broad.mit.edu	37	4	80246628	80246628	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:80246628G>A	ENST00000286794.4	-	1	576	c.404C>T	c.(403-405)cCt>cTt	p.P135L	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	135	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATAGTATTTAGGTTCCACCTC	0.488																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(403-405)cCt>cTt		N(alpha)-acetyltransferase 11, NatA catalytic subunit							67.0	68.0	68.0					4																	80246628		2012	4225	6237	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246628G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.404C>T	4.37:g.80246628G>A	ENSP00000286794:p.Pro135Leu						p.P135L	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	576	-			135			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.404C>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694552	0.48202	.	.	ENSG00000156269	ENST00000286794	T	0.28255	1.62	5.17	4.32	0.51571	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.35682	0.0940	L	0.48986	1.54	0.80722	D	1	P	0.47253	0.892	P	0.47251	0.542	T	0.20974	-1.0259	10	0.62326	D	0.03	-25.9256	13.1392	0.59426	0.0:0.0:0.8388:0.1612	.	135	Q9BSU3	NAA11_HUMAN	L	135	ENSP00000286794:P135L	ENSP00000286794:P135L	P	-	2	0	NAA11	80465652	1.000000	0.71417	0.991000	0.47740	0.004000	0.04260	6.914000	0.75764	1.539000	0.49286	-0.181000	0.13052	CCT		0.488	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			22	42	0	0	0	1	0	22	42				
USP24	23358	broad.mit.edu	37	1	55563343	55563343	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:55563343C>T	ENST00000294383.6	-	48	5642	c.5643G>A	c.(5641-5643)ttG>ttA	p.L1881L	USP24_ENST00000407756.1_Silent_p.L1721L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1881	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTGAATTACCAAGACGCTAG	0.338																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(5641-5643)ttG>ttA		ubiquitin specific peptidase 24							40.0	37.0	38.0					1																	55563343		1800	4064	5864	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55563343C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5643G>A	1.37:g.55563343C>T						USP24_ENST00000407756.1_Silent_p.L1721L	p.L1881L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			48	5642	-			1881					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.5643G>A	CCDS44154.2																																																																																				0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	9	0	0	0	1	0	7	9				
NRROS	375387	broad.mit.edu	37	3	196387651	196387651	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:196387651C>T	ENST00000328557.4	+	3	1340	c.1137C>T	c.(1135-1137)acC>acT	p.T379T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	379					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GAGCGCTCACCGAGCTGGACC	0.637																																						ENST00000328557.4																			0											c.(1135-1137)acC>acT		negative regulator of reactive oxygen species							55.0	60.0	58.0					3																	196387651		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196387651C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1137C>T	3.37:g.196387651C>T							p.T379T	NM_198565.1	NP_940967.1					3	1340	+									Silent	SNP	ENST00000328557.4	37	c.1137C>T	CCDS3319.1																																																																																				0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		30	62	0	0	0	1	0	30	62				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	331	0	0	0	1	0	5	331				
GABRD	2563	broad.mit.edu	37	1	1957053	1957053	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:1957053G>A	ENST00000378585.4	+	4	429	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	116					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGCCGCTTCGTGGACAAGCT	0.617																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(346-348)Gtg>Atg		gamma-aminobutyric acid (GABA) A receptor, delta							96.0	94.0	95.0					1																	1957053		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957053G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.346G>A	1.37:g.1957053G>A	ENSP00000367848:p.Val116Met						p.V116M	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	429	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	116					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.346G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100575	0.94245	.	.	ENSG00000187730	ENST00000378585	T	0.78707	-1.2	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85455	0.1163	10	0.72032	D	0.01	-2.5669	16.5096	0.84281	0.0:0.0:1.0:0.0	.	116	O14764	GBRD_HUMAN	M	116	ENSP00000367848:V116M	ENSP00000367848:V116M	V	+	1	0	GABRD	1946913	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	9.364000	0.97136	2.444000	0.82710	0.561000	0.74099	GTG		0.617	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		28	40	0	0	0	1	0	28	40				
PCDHA5	56143	broad.mit.edu	37	5	140203424	140203424	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:140203424C>T	ENST00000529859.1	+	1	2064	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	688					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(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)			CTGTGGGTCCCGAGGCTGCCC	0.677																																						ENST00000529859.1																			0				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.(2062-2064)ccC>ccT									49.0	53.0	52.0					5																	140203424		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140203424C>T	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.2064C>T	5.37:g.140203424C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P	p.P688P	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2064	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2064C>T	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		29	86	0	0	0	1	0	29	86				
SURF2	6835	broad.mit.edu	37	9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	244						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(730-732)cGc>cAc		surfeit 2							166.0	169.0	168.0					9																	136227975		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227975G>A		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.731G>A	9.37:g.136227975G>A	ENSP00000361032:p.Arg244His						p.R244H	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	6	772	+			244					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.731G>A	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	0.927	-0.713895	0.03206	.	.	ENSG00000148291	ENST00000371964	T	0.29917	1.55	5.15	0.0952	0.14484	.	0.911277	0.09659	N	0.772669	T	0.18173	0.0436	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.17722	0.019	T	0.35674	-0.9779	10	0.12103	T	0.63	-18.6517	9.3417	0.38085	0.4709:0.0:0.5291:0.0	.	244	Q15527	SURF2_HUMAN	H	244	ENSP00000361032:R244H	ENSP00000361032:R244H	R	+	2	0	SURF2	135217796	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	0.233000	0.17911	-0.274000	0.09232	0.561000	0.74099	CGC		0.463	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		4	185	0	0	0	1	0	4	185				
TMEM132D	121256	broad.mit.edu	37	12	129566495	129566495	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:129566495G>A	ENST00000422113.2	-	7	2058	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	578					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R578W(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCAGGACCCGCACCATGGCG	0.652																																						ENST00000422113.2																			2	Substitution - Missense(2)	p.R578W(2)	large_intestine(2)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1732-1734)Cgg>Tgg		transmembrane protein 132D							45.0	47.0	47.0					12																	129566495		2203	4299	6502	SO:0001583	missense	121256					integral to membrane		g.chr12:129566495G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1732C>T	12.37:g.129566495G>A	ENSP00000408581:p.Arg578Trp					TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	p.R578W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2058	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	578					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1732C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787869	0.70337	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.55588	0.51;0.51	4.72	3.76	0.43208	.	0.101204	0.42964	D	0.000622	T	0.74741	0.3756	M	0.88105	2.93	0.44619	D	0.997599	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	T	0.79671	-0.1706	9	.	.	.	-44.7815	12.9732	0.58524	0.0:0.0:0.7201:0.2798	.	578;116	Q14C87;Q14C87-2	T132D_HUMAN;.	W	116;578	ENSP00000374092:R116W;ENSP00000408581:R578W	.	R	-	1	2	TMEM132D	128132448	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.775000	0.47702	2.149000	0.67028	0.561000	0.74099	CGG		0.652	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		30	33	0	0	0	1	0	30	33				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			0							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	78	0	0	0	1	0	4	78				
OR4D9	390199	broad.mit.edu	37	11	59283161	59283161	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:59283161C>T	ENST00000329328.3	+	1	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TATGTCTATGCCCGGCCCTTC	0.552																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(775-777)gCc>gTc		olfactory receptor, family 4, subfamily D, member 9							241.0	215.0	224.0					11																	59283161		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283161C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.776C>T	11.37:g.59283161C>T	ENSP00000328563:p.Ala259Val						p.A259V	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	776	+			259					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.776C>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871573	0.51695	.	.	ENSG00000172742	ENST00000329328	T	0.35789	1.29	4.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	U	0.000871	T	0.16811	0.0404	N	0.02865	-0.47	0.21147	N	0.999772	P	0.34997	0.479	P	0.46452	0.517	T	0.45469	-0.9259	10	0.05436	T	0.98	-14.4267	4.8868	0.13706	0.3564:0.539:0.0:0.1045	.	259	Q8NGE8	OR4D9_HUMAN	V	259	ENSP00000328563:A259V	ENSP00000328563:A259V	A	+	2	0	OR4D9	59039737	0.000000	0.05858	0.998000	0.56505	0.982000	0.71751	-0.504000	0.06375	2.062000	0.61559	0.563000	0.77884	GCC		0.552	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		88	104	0	0	0	1	0	88	104				
FCER1A	2205	broad.mit.edu	37	1	159275806	159275806	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:159275806G>T	ENST00000368115.1	+	5	459	c.360G>T	c.(358-360)gaG>gaT	p.E120D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	120	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCTCTGCTGAGGTGGTGATGG	0.448																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(358-360)gaG>gaT		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						60.0	59.0	59.0					1																	159275806		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275806G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.360G>T	1.37:g.159275806G>T	ENSP00000357097:p.Glu120Asp					FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	p.E120D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	459	+	all_hematologic(112;0.0429)		120			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.360G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197626	0.09652	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12465	2.68;2.68	4.69	-4.04	0.04010	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.216450	0.05746	N	0.602318	T	0.01320	0.0043	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45308	-0.9270	10	0.15952	T	0.53	.	1.0389	0.01555	0.1636:0.2464:0.2377:0.3522	.	120	P12319	FCERA_HUMAN	D	120;87	ENSP00000357097:E120D;ENSP00000357096:E87D	ENSP00000357096:E87D	E	+	3	2	FCER1A	157542430	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.039000	0.03550	-0.716000	0.04962	0.585000	0.79938	GAG		0.448	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		19	32	1	0	5.03518e-11	1	5.37463e-11	19	32				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	C	rs28934874|rs137852790|rs137852791		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578479G>C	ENST00000269305.4	-	5	640	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TP53_ENST00000420246.2_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A|TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGGCGGGGGTGTGGAATCA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Gcc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578479G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.451C>G	17.37:g.7578479G>C	ENSP00000269305:p.Pro151Ala	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000269305.4_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A	p.P151A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967091	0.53507	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99885	0.9945	M	0.83692	2.655	0.53688	D	0.999972	D;P;D;P;D;P;D	0.89917	0.994;0.919;0.97;0.912;0.98;0.934;1.0	P;P;P;P;D;P;D	0.91635	0.854;0.796;0.867;0.819;0.918;0.871;0.999	D	0.96428	0.9317	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	A	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151A;ENSP00000352610:P151A;ENSP00000269305:P151A;ENSP00000398846:P151A;ENSP00000391127:P151A;ENSP00000391478:P151A;ENSP00000425104:P19A;ENSP00000423862:P58A;ENSP00000424104:P151A	ENSP00000269305:P151A	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	43	0	0	0	1	0	18	43				
SORT1	6272	broad.mit.edu	37	1	109883360	109883360	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:109883360C>T	ENST00000256637.6	-	10	1308	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	417					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGAGAGCACGCTTGTTATGTA	0.537																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1249-1251)aGc>aAc		sortilin 1							155.0	121.0	132.0					1																	109883360		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109883360C>T	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1250G>A	1.37:g.109883360C>T	ENSP00000256637:p.Ser417Asn					SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	p.S417N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	10	1308	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	417					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1250G>A	CCDS798.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247230	0.80024	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.21932	1.98;1.98	5.61	5.61	0.85477	VPS10 (1);	0.116742	0.85682	N	0.000000	T	0.06416	0.0165	N	0.13168	0.305	0.80722	D	1	B;P	0.44281	0.019;0.831	B;B	0.42495	0.045;0.389	T	0.03493	-1.1031	10	0.02654	T	1	-17.8645	18.764	0.91865	0.0:1.0:0.0:0.0	.	280;417	B4DWI3;Q99523	.;SORT_HUMAN	N	417;280	ENSP00000256637:S417N;ENSP00000438597:S280N	ENSP00000256637:S417N	S	-	2	0	SORT1	109684883	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.562000	0.82300	2.804000	0.96469	0.651000	0.88453	AGC		0.537	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		21	23	0	0	0	1	0	21	23				
ZDBF2	57683	broad.mit.edu	37	2	207170473	207170473	+	Silent	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:207170473T>C	ENST00000374423.3	+	5	1607	c.1221T>C	c.(1219-1221)agT>agC	p.S407S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	407							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGAAATGAGTTTTGATTGCA	0.403																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1219-1221)agT>agC		zinc finger, DBF-type containing 2							112.0	110.0	111.0					2																	207170473		1866	4110	5976	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207170473T>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1221T>C	2.37:g.207170473T>C							p.S407S	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1607	+			407					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.1221T>C	CCDS46501.1																																																																																				0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		29	33	0	0	0	1	0	29	33				
MYF6	4618	broad.mit.edu	37	12	81101548	81101548	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:81101548G>C	ENST00000228641.3	+	1	272	c.50G>C	c.(49-51)gGg>gCg	p.G17A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	17					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACTTGGATGGGGAAAATGTT	0.498																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(49-51)gGg>gCg		myogenic factor 6 (herculin)							100.0	106.0	104.0					12																	81101548		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101548G>C		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.50G>C	12.37:g.81101548G>C	ENSP00000228641:p.Gly17Ala						p.G17A	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	272	+			17					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.50G>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537345	0.65085	.	.	ENSG00000111046	ENST00000228641	T	0.77358	-1.09	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.046876	0.85682	D	0.000000	D	0.84674	0.5524	M	0.71581	2.175	0.80722	D	1	D	0.56035	0.974	P	0.53912	0.737	D	0.84040	0.0364	10	0.42905	T	0.14	.	19.6517	0.95819	0.0:0.0:1.0:0.0	.	17	P23409	MYF6_HUMAN	A	17	ENSP00000228641:G17A	ENSP00000228641:G17A	G	+	2	0	MYF6	79625679	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.939000	0.75911	2.662000	0.90505	0.655000	0.94253	GGG		0.498	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		18	51	0	0	0	1	0	18	51				
APOA2	336	broad.mit.edu	37	1	161192119	161192119	+	3'UTR	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:161192119A>G	ENST00000367990.3	-	0	436				APOA2_ENST00000463812.1_3'UTR|APOA2_ENST00000468465.1_3'UTR|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000470459.2_3'UTR|AL590714.1_ENST00000594609.1_Silent_p.V18V|APOA2_ENST00000464492.1_3'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II						acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGAGTGGGTAGGGACAGGAG	0.532																																						ENST00000594609.1																			0											c.(52-54)gtA>gtG																																						SO:0001624	3_prime_UTR_variant	0							g.chr1:161192119A>G		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.*76T>C	1.37:g.161192119A>G						APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000481413.1_5'UTR	p.V18V							2	54	+								B2R524	Silent	SNP	ENST00000367990.3	37	c.54A>G	CCDS1226.1																																																																																				0.532	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		34	43	0	0	0	1	0	34	43				
NKD2	85409	broad.mit.edu	37	5	1038429	1038431	+	In_Frame_Del	DEL	CAC	CAC	-	rs562708775	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:1038429_1038431delCAC	ENST00000296849.5	+	10	1526_1528	c.1297_1299delCAC	c.(1297-1299)cacdel	p.H437del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P76del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	437	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCGGCACGAGcaccaccaccacc	0.685																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1297-1299)del		naked cuticle homolog 2 (Drosophila)				51,3471		7,37,1717						1.1	0.5			6	77,6725		5,67,3329	no	coding	NKD2	NM_033120.2		12,104,5046	A1A1,A1R,RR		1.132,1.448,1.2398				128,10196				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038429_1038431delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1297_1299delCAC	5.37:g.1038438_1038440delCAC	ENSP00000296849:p.His437del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP72del|NKD2_ENST00000274150.4_3'UTR	p.H437del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1526_1528	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		437			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1297_1299delCAC	CCDS3859.1																																																																																				0.685	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		19	1533						19	1533	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	83040943	83040944	+	RNA	INS	-	-	T	rs369211335		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr15:83040943_83040944insT	ENST00000558477.1	+	0	233					NR_004847.2																						GAACAAAAATCTTTTTTTTTTT	0.312																																						ENST00000558477.1																			0																																																			0							g.chr15:83040943_83040944insT																													15.37:g.83040954_83040954dupT								NR_004847.2						0	233	+									RNA	INS	ENST00000558477.1	37																																																																																						0.312	UBE2Q2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419279.1			2	4						2	4	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16339588	16339588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:16339588delT	ENST00000400202.1	-	3	1638	c.926delA	c.(925-927)cagfs	p.Q309fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	309	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AACATCCTTCTGGCCATTTTC	0.433																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(925-927)cgfs		nuclear receptor interacting protein 1							64.0	61.0	62.0					21																	16339588		2203	4300	6503	SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339588delT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.926delA	21.37:g.16339588delT	ENSP00000383063:p.Gln309fs					NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs	p.Q309fs			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1638	-			309			Repression domain 1.		Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	c.926delA	CCDS13568.1																																																																																				0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		18	71						18	71	---	---	---	---
